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 100515493 100515493 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 100515493 100515493 A G SNP HIAT1 ENST00000370152 human ensembl 74_37 +1 known missense c.113 p.Y38C 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 129 0 0 91 24 20.8696 RTCA 0 genome.wustl.edu 37 1 100736176 100736176 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 100736176 100736176 A G SNP RTCA ENST00000260563 human ensembl 74_37 +1 known silent c.393 p.E131 0.998 pfam_RNA3'_phos_cyclase_dom,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,tigrfam_RNA3'_term_phos_cyc_type_1 pfam_RNA3'_phos_cyclase_dom,pfam_RNA3'-term_phos_cycl_insert,superfamily_RNA3'P_cycl/enolpyr_Trfase_a/b,superfamily_RNA3'-term_phos_cycl_insert,tigrfam_RNA3'_term_phos_cyc_type_1 - no_errors RTCA HGNC ENSG00000137996 444 0 0 211 103 32.8025 CDC14A 0 genome.wustl.edu 37 1 100928305 100928305 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 100928305 100928305 C T SNP CDC14A ENST00000361544 human ensembl 74_37 +1 known missense c.706 p.R236C 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 142 0 0 71 30 29.703 SLC30A7 0 genome.wustl.edu 37 1 101431476 101431476 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 101431476 101431476 T C SNP SLC30A7 ENST00000357650 human ensembl 74_37 +1 novel splice_site c.1083+2 e10+2 1.000 - - - no_errors SLC30A7 HGNC ENSG00000162695 143 0 0 77 6 7.22892 DPH5 0 genome.wustl.edu 37 1 101458257 101458257 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 101458257 101458257 T C SNP DPH5 ENST00000370109 human ensembl 74_37 -1 known silent c.570 p.V190 0.939 pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 225 0 0 123 65 34.5745 UBE4B 0 genome.wustl.edu 37 1 10211616 10211616 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 10211616 10211616 A G SNP UBE4B ENST00000343090 human ensembl 74_37 +1 known missense c.2923 p.T975A 1.000 pfam_Ub_conjug_fac_E4_core pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain - no_errors UBE4B HGNC ENSG00000130939 195 0 0 131 17 11.4865 COL11A1 0 genome.wustl.edu 37 1 103474066 103474066 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 103474066 103474066 G C SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.1672 p.P558A 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 COL11A1 HGNC ENSG00000060718 147 0 0 74 31 29.5238 KIF1B 0 genome.wustl.edu 37 1 10381811 10381811 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 10381811 10381811 C T SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known missense c.2116 p.R706W 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1B HGNC ENSG00000054523 115 0 0 74 31 29.5238 C1orf194 0 genome.wustl.edu 37 1 109649218 109649218 + Nonstop_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 109649218 109649218 A G SNP C1orf194 ENST00000460065 human ensembl 74_37 -1 known nonstop c.145 p.*49Q 0.374 NULL NULL - no_errors C1orf194 HGNC ENSG00000179902 344 0 0 220 35 13.7255 CELSR2 0 genome.wustl.edu 37 1 109813589 109813589 + Silent SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 109813589 109813589 T G SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.7524 p.P2508 0.849 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like 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 531 0 0 312 102 24.6377 AMPD2 0 genome.wustl.edu 37 1 110172064 110172064 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 110172064 110172064 A G SNP AMPD2 ENST00000256578 human ensembl 74_37 +1 known missense c.1976 p.Y659C 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 559 2 0.356506 385 45 10.4651 EPS8L3 0 genome.wustl.edu 37 1 110301240 110301240 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 110301240 110301240 C A SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known silent c.510 p.G170 0.003 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 120 0 0 58 18 23.6842 SLC16A4 0 genome.wustl.edu 37 1 110925584 110925584 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 110925584 110925584 T C SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known missense c.92 p.N31S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 136 0 0 76 30 28.3019 PROK1 0 genome.wustl.edu 37 1 110996681 110996681 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 110996681 110996681 C T SNP PROK1 ENST00000271331 human ensembl 74_37 +1 known silent c.171 p.G57 0.980 pfam_Prokineticin_domain pfam_Prokineticin_domain - no_errors PROK1 HGNC ENSG00000143125 56 0 0 29 14 32.5581 MASP2 0 genome.wustl.edu 37 1 11105575 11105575 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 11105575 11105575 G A SNP MASP2 ENST00000400897 human ensembl 74_37 -1 known missense c.434 p.A145V 0.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors MASP2 HGNC ENSG00000009724 44 0 0 26 10 27.7778 DDX20 0 genome.wustl.edu 37 1 112299330 112299330 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 112299330 112299330 G C SNP DDX20 ENST00000369702 human ensembl 74_37 +1 known missense c.364 p.D122H 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 127 0 0 54 20 27.027 LRIG2 0 genome.wustl.edu 37 1 113653136 113653136 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 113653136 113653136 A G SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.1750 p.N584D 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 115 0 0 62 25 28.7356 LRIG2 0 genome.wustl.edu 37 1 113657106 113657106 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 113657106 113657106 C T SNP LRIG2 ENST00000361127 human ensembl 74_37 +1 known missense c.2138 p.A713V 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIG2 HGNC ENSG00000198799 147 0 0 65 31 32.2917 OLFML3 0 genome.wustl.edu 37 1 114524259 114524259 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 114524259 114524259 T C SNP OLFML3 ENST00000320334 human ensembl 74_37 +1 known silent c.1089 p.P363 0.067 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML3 HGNC ENSG00000116774 145 0 0 81 6 6.89655 AMPD1 0 genome.wustl.edu 37 1 115226954 115226954 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 115226954 115226954 T C SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.512 p.K171R 0.999 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 133 0 0 55 22 28.5714 SDF4 0 genome.wustl.edu 37 1 1154242 1154242 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 1154242 1154242 G A SNP SDF4 ENST00000465727 human ensembl 74_37 -1 known missense c.659 p.A220V 1.000 NULL pfscan_EF_hand_dom - no_errors SDF4 HGNC ENSG00000078808 319 0 0 218 13 5.62771 DRAXIN 0 genome.wustl.edu 37 1 11766661 11766661 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 11766661 11766661 G C SNP DRAXIN ENST00000294485 human ensembl 74_37 +1 known missense c.346 p.A116P 0.875 NULL NULL - no_errors DRAXIN HGNC ENSG00000162490 40 0 0 21 14 40 WARS2 0 genome.wustl.edu 37 1 119575543 119575543 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 119575543 119575543 A G SNP WARS2 ENST00000235521 human ensembl 74_37 -1 known silent c.1074 p.G358 0.004 tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS2 HGNC ENSG00000116874 131 0 0 67 30 30.9278 ADAM30 0 genome.wustl.edu 37 1 120436588 120436588 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 120436588 120436588 T C SNP ADAM30 ENST00000369400 human ensembl 74_37 -1 known silent c.2372 p.*791 0.002 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 ADAM30 HGNC ENSG00000134249 546 0 0 451 24 5.05263 NBPF9 0 genome.wustl.edu 37 1 144828665 144828665 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 144828665 144828665 T C SNP NBPF9 ENST00000281815 human ensembl 74_37 +1 known missense c.505 p.F169L 0.002 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF9 HGNC ENSG00000168614 553 0 0 305 99 24.505 PDE4DIP 0 genome.wustl.edu 37 1 144930752 144930752 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 144930752 144930752 T C SNP PDE4DIP ENST00000313431 human ensembl 74_37 -1 known silent c.957 p.L319 0.998 NULL superfamily_ARM-type_fold - no_errors PDE4DIP HGNC ENSG00000178104 273 1 0.364964 213 36 14.4578 ANKRD35 0 genome.wustl.edu 37 1 145562258 145562258 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 145562258 145562258 G A SNP ANKRD35 ENST00000355594 human ensembl 74_37 +1 known missense c.1946 p.S649N 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD35 HGNC ENSG00000198483 157 0 0 56 37 39.7849 HIST2H3PS2 0 genome.wustl.edu 37 1 149400326 149400326 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 149400326 149400326 G A SNP HIST2H3PS2 ENST00000392948 human ensembl 74_37 -1 putative missense c.217 p.R73C 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST2H3PS2 HGNC ENSG00000203818 79 0 0 35 8 18.6047 HIST2H2AC 0 genome.wustl.edu 37 1 149858676 149858676 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 149858676 149858676 A G SNP HIST2H2AC ENST00000331380 human ensembl 74_37 +1 known missense c.152 p.Y51C 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 140 0 0 61 27 30.6818 CTSS 0 genome.wustl.edu 37 1 150724313 150724313 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 150724313 150724313 A G SNP CTSS ENST00000368985 human ensembl 74_37 -1 known missense c.571 p.Y191H 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSS HGNC ENSG00000163131 218 0 0 84 43 33.8583 SETDB1 0 genome.wustl.edu 37 1 150915397 150915397 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 150915397 150915397 C T SNP SETDB1 ENST00000271640 human ensembl 74_37 +1 known missense c.743 p.A248V 1.000 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 200 0 0 105 14 11.7647 GABPB2 0 genome.wustl.edu 37 1 151062940 151062940 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151062940 151062940 T C SNP GABPB2 ENST00000368918 human ensembl 74_37 +1 known missense c.167 p.V56A 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors GABPB2 HGNC ENSG00000143458 152 0 0 97 18 15.6522 POGZ 0 genome.wustl.edu 37 1 151378275 151378275 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151378275 151378275 T C SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3236 p.H1079R 1.000 pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 174 0 0 89 55 38.1944 CGN 0 genome.wustl.edu 37 1 151491656 151491656 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151491656 151491656 C T SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.661 p.R221W 0.021 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 332 0 0 137 58 29.7436 CGN 0 genome.wustl.edu 37 1 151502450 151502450 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151502450 151502450 G A SNP CGN ENST00000271636 human ensembl 74_37 +1 known silent c.2172 p.T724 0.121 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 118 0 0 52 29 35.8025 CGN 0 genome.wustl.edu 37 1 151502999 151502999 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151502999 151502999 C T SNP CGN ENST00000271636 human ensembl 74_37 +1 known missense c.2348 p.A783V 0.000 NULL pfam_Myosin_tail - no_errors CGN HGNC ENSG00000143375 156 1 0.636943 62 27 30.3371 SNX27 0 genome.wustl.edu 37 1 151664929 151664929 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151664929 151664929 A G SNP SNX27 ENST00000368843 human ensembl 74_37 +1 known missense c.1258 p.T420A 0.996 NULL pfam_Phox,pfam_PDZ,pfam_Ras-assoc,superfamily_Phox,superfamily_PDZ,smart_PDZ,smart_Phox,pfscan_PDZ,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX27 HGNC ENSG00000143376 71 0 0 51 8 13.5593 RORC 0 genome.wustl.edu 37 1 151785369 151785369 + RNA SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151785369 151785369 T A SNP RORC ENST00000480719 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RORC HGNC ENSG00000143365 37 0 0 15 9 37.5 JTB 0 genome.wustl.edu 37 1 153947257 153947257 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 153947257 153947257 G A SNP JTB ENST00000271843 human ensembl 74_37 -1 known silent c.339 p.V113 0.000 pfam_JTB pfam_JTB - no_errors JTB HGNC ENSG00000143543 140 0 0 69 41 37.2727 JTB 0 genome.wustl.edu 37 1 153949675 153949675 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 153949675 153949675 C T SNP JTB ENST00000271843 human ensembl 74_37 -1 known nonsense c.54 p.W18* 0.980 NULL pfam_JTB - no_errors JTB HGNC ENSG00000143543 283 0 0 217 22 9.20502 UBAP2L 0 genome.wustl.edu 37 1 154227697 154227697 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 154227697 154227697 T C SNP UBAP2L ENST00000361546 human ensembl 74_37 +1 known missense c.1979 p.V660A 1.000 NULL pfam_DUF3697_Uba2,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP2L HGNC ENSG00000143569 188 1 0.529101 132 9 6.38298 ATP8B2 0 genome.wustl.edu 37 1 154317917 154317917 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 154317917 154317917 T C SNP ATP8B2 ENST00000368489 human ensembl 74_37 +1 known missense c.2689 p.S897P 1.000 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B2 HGNC ENSG00000143515 889 1 0.11236 490 251 33.8731 SHC1 0 genome.wustl.edu 37 1 154938847 154938847 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 154938847 154938847 G A SNP SHC1 ENST00000368445 human ensembl 74_37 -1 known missense c.1130 p.A377V 0.006 NULL pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC1 HGNC ENSG00000160691 49 0 0 46 4 8 HCN3 0 genome.wustl.edu 37 1 155257627 155257627 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 155257627 155257627 T C SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known silent c.1698 p.S566 0.003 NULL pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 168 0 0 103 14 11.9658 FDPS 0 genome.wustl.edu 37 1 155289536 155289536 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 155289536 155289536 C T SNP FDPS ENST00000489324 human ensembl 74_37 +1 known rna NULL NULL 0.042 - - - no_errors FDPS HGNC ENSG00000160752 339 0 0 155 82 34.5992 TMEM51 0 genome.wustl.edu 37 1 15541903 15541903 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 15541903 15541903 G A SNP TMEM51 ENST00000376008 human ensembl 74_37 +1 known missense c.320 p.G107E 0.000 NULL NULL - no_errors TMEM51 HGNC ENSG00000171729 60 0 0 20 17 45.9459 ARHGEF2 0 genome.wustl.edu 37 1 155920975 155920975 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 155920975 155920975 C T SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.2351 p.R784Q 0.915 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 15 0 0 7 8 53.3333 ARHGEF2 0 genome.wustl.edu 37 1 155932848 155932848 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 155932848 155932848 T C SNP ARHGEF2 ENST00000368315 human ensembl 74_37 -1 known missense c.854 p.D285G 0.999 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 128 0 0 73 7 8.75 TMEM79 0 genome.wustl.edu 37 1 156256064 156256064 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 156256064 156256064 C T SNP TMEM79 ENST00000357501 human ensembl 74_37 +1 known missense c.55 p.R19W 0.630 NULL NULL - no_errors TMEM79 HGNC ENSG00000163472 139 0 0 86 7 7.52688 RHBG 0 genome.wustl.edu 37 1 156352561 156352561 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 156352561 156352561 A G SNP RHBG ENST00000368246 human ensembl 74_37 +1 known missense c.1135 p.I379V 0.045 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 RHBG HGNC ENSG00000132677 330 1 0.302115 217 33 13.2 RHBG 0 genome.wustl.edu 37 1 156354310 156354310 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 156354310 156354310 A G SNP RHBG ENST00000451864 human ensembl 74_37 +1 known missense c.1106 p.H369R 0.000 NULL pfam_NH4_transpt_AmtB-like_dom,superfamily_NH4_transpt_AmtB-like_dom,prints_RhesusRHD - no_errors RHBG HGNC ENSG00000132677 136 1 0.729927 60 24 28.5714 RHBG 0 genome.wustl.edu 37 1 156354646 156354646 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 156354646 156354646 C T SNP RHBG ENST00000494874 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RHBG HGNC ENSG00000132677 40 0 0 16 8 33.3333 BCAN 0 genome.wustl.edu 37 1 156621381 156621381 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 156621381 156621381 T C SNP BCAN ENST00000329117 human ensembl 74_37 +1 known silent c.1197 p.S399 0.305 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,prints_Link,prints_AntifreezeII,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom - no_errors BCAN HGNC ENSG00000132692 199 0 0 79 42 34.7107 ARHGEF11 0 genome.wustl.edu 37 1 156917590 156917590 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 156917590 156917590 C T SNP ARHGEF11 ENST00000368194 human ensembl 74_37 -1 known missense c.2312 p.R771Q 1.000 superfamily_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 53 0 0 22 12 35.2941 ETV3 0 genome.wustl.edu 37 1 157104017 157104017 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 157104017 157104017 T C SNP ETV3 ENST00000368192 human ensembl 74_37 -1 known missense c.287 p.Y96C 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3 HGNC ENSG00000117036 68 0 0 51 4 7.27273 FCRL2 0 genome.wustl.edu 37 1 157738348 157738348 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 157738348 157738348 T C SNP FCRL2 ENST00000361516 human ensembl 74_37 -1 known missense c.739 p.S247G 0.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL2 HGNC ENSG00000132704 355 0 0 193 73 27.4436 OR6Y1 0 genome.wustl.edu 37 1 158517519 158517519 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 158517519 158517519 T C SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.377 p.D126G 1.000 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 OR6Y1 HGNC ENSG00000197532 122 0 0 57 16 21.9178 IGSF9 0 genome.wustl.edu 37 1 159902365 159902365 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 159902365 159902365 G T SNP IGSF9 ENST00000368094 human ensembl 74_37 -1 known silent c.1182 p.S394 1.000 smart_Ig_sub,smart_Ig_sub2,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_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGSF9 HGNC ENSG00000085552 139 0 0 69 40 36.6972 PIGM 0 genome.wustl.edu 37 1 160000350 160000350 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 160000350 160000350 A G SNP PIGM ENST00000368090 human ensembl 74_37 -1 known silent c.1180 p.L394 0.996 pfam_Mannosyltransferase_DXD pfam_Mannosyltransferase_DXD - no_errors PIGM HGNC ENSG00000143315 228 0 0 158 9 5.38922 PLEKHM2 0 genome.wustl.edu 37 1 16059137 16059137 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 16059137 16059137 C T SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known missense c.2836 p.P946S 0.443 NULL pfam_Run,pfam_Pleckstrin_homology,smart_Run,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Run - no_errors PLEKHM2 HGNC ENSG00000116786 24 0 0 14 3 17.6471 USF1 0 genome.wustl.edu 37 1 161011634 161011634 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 161011634 161011634 C T SNP USF1 ENST00000368020 human ensembl 74_37 -1 known silent c.279 p.A93 0.156 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors USF1 HGNC ENSG00000158773 132 0 0 67 27 28.7234 DEDD 0 genome.wustl.edu 37 1 161092087 161092087 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 161092087 161092087 T C SNP DEDD ENST00000368005 human ensembl 74_37 -1 known silent c.897 p.L299 1.000 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors DEDD HGNC ENSG00000158796 121 0 0 54 27 33.3333 FCGR2A 0 genome.wustl.edu 37 1 161487831 161487831 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 161487831 161487831 A G SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known missense c.847 p.T283A 0.006 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 156 0 0 56 33 37.0787 HSPA6 0 genome.wustl.edu 37 1 161495245 161495245 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 161495245 161495245 G A SNP HSPA6 ENST00000309758 human ensembl 74_37 +1 known missense c.797 p.R266H 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 50 0 0 28 12 30 SPEN 0 genome.wustl.edu 37 1 16199578 16199578 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 16199578 16199578 T C SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.351 p.G117 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 132 1 0.75188 58 36 38.2979 UHMK1 0 genome.wustl.edu 37 1 162467856 162467856 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 162467856 162467856 G A SNP UHMK1 ENST00000489294 human ensembl 74_37 +1 known silent c.66 p.L22 0.989 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RRM_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Prot_kinase_dom - no_errors UHMK1 HGNC ENSG00000152332 74 0 0 35 17 32.6923 SPEN 0 genome.wustl.edu 37 1 16255224 16255224 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 16255224 16255224 C T SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.2489 p.S830F 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 176 0 0 74 37 33.3333 DDR2 0 genome.wustl.edu 37 1 162731167 162731167 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 162731167 162731167 G A SNP DDR2 ENST00000367921 human ensembl 74_37 +1 known missense c.1022 p.R341Q 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 91 0 0 48 17 26.1538 CLCNKA 0 genome.wustl.edu 37 1 16355671 16355671 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 16355671 16355671 G A SNP CLCNKA ENST00000331433 human ensembl 74_37 +1 known silent c.1104 p.A368 0.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 72 0 0 41 14 25.4545 EPHA2 0 genome.wustl.edu 37 1 16475193 16475193 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 16475193 16475193 C T SNP EPHA2 ENST00000358432 human ensembl 74_37 -1 known missense c.503 p.R168H 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Interferon_alpha/beta_rcpt_bsu,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 EPHA2 HGNC ENSG00000142627 91 0 0 31 23 42.5926 RXRG 0 genome.wustl.edu 37 1 165398092 165398092 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 165398092 165398092 C T SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.161 p.R54Q 0.995 pfam_Nuc_recep-AF1 pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 86 0 0 46 19 29.2308 ENSG00000227775 0 genome.wustl.edu 37 1 1664021 1664021 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 1664021 1664021 G A SNP ENSG00000227775 ENST00000424604 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-283E3.4 Clone_based_vega_gene ENSG00000227775 15 0 0 15 7 31.8182 NECAP2 0 genome.wustl.edu 37 1 16767271 16767271 + Splice_Site SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 16767271 16767271 G A SNP NECAP2 ENST00000457722 human ensembl 74_37 +1 known splice_site c.14+1 e1+1 0.101 - - - no_errors NECAP2 HGNC ENSG00000157191 105 0 0 52 15 22.3881 ADCY10 0 genome.wustl.edu 37 1 167825464 167825464 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 167825464 167825464 C T SNP ADCY10 ENST00000367851 human ensembl 74_37 -1 known missense c.2110 p.D704N 0.723 superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10 pfam_A/G_cyclase,superfamily_A/G_cyclase,superfamily_P-loop_NTPase,pirsf_Adenylate_cylcase_typ10,pfscan_A/G_cyclase - no_errors ADCY10 HGNC ENSG00000143199 276 0 0 197 21 9.63303 F5 0 genome.wustl.edu 37 1 169510030 169510030 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 169510030 169510030 A G SNP F5 ENST00000367797 human ensembl 74_37 -1 known missense c.4298 p.L1433P 0.030 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F5 HGNC ENSG00000198734 122 1 0.813008 79 26 24.7619 ESPNP 0 genome.wustl.edu 37 1 17017662 17017662 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 17017662 17017662 G A SNP ESPNP ENST00000414828 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors ESPNP HGNC ENSG00000268869 116 0 0 77 16 17.2043 MROH9 0 genome.wustl.edu 37 1 170940930 170940930 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 170940930 170940930 G A SNP MROH9 ENST00000367759 human ensembl 74_37 +1 known silent c.522 p.E174 0.731 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH9 HGNC ENSG00000117501 598 0 0 311 110 26.1283 PRRC2C 0 genome.wustl.edu 37 1 171505354 171505354 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 171505354 171505354 T C SNP PRRC2C ENST00000392078 human ensembl 74_37 +1 known missense c.2230 p.S744P 1.000 NULL pfam_BAT2_N - no_errors PRRC2C HGNC ENSG00000117523 47 0 0 17 8 32 SUCO 0 genome.wustl.edu 37 1 172538216 172538216 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 172538216 172538216 G T SNP SUCO ENST00000608151 human ensembl 74_37 +1 known missense c.1267 p.D423Y 1.000 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 152 0 0 116 8 6.45161 SLC9C2 0 genome.wustl.edu 37 1 173493985 173493985 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 173493985 173493985 A G SNP SLC9C2 ENST00000367714 human ensembl 74_37 -1 known missense c.2447 p.L816P 0.973 NULL pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 211 0 0 168 9 5.08475 KLHL20 0 genome.wustl.edu 37 1 173751271 173751271 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 173751271 173751271 G T SNP KLHL20 ENST00000209884 human ensembl 74_37 +1 known missense c.1648 p.A550S 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 KLHL20 HGNC ENSG00000076321 277 0 0 179 28 13.5266 PADI2 0 genome.wustl.edu 37 1 17418998 17418998 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 17418998 17418998 C T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.560 p.R187Q 1.000 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,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 104 0 0 52 23 30.6667 TNR 0 genome.wustl.edu 37 1 175299243 175299243 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 175299243 175299243 T C SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.3760 p.K1254E 1.000 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 152 0 0 84 10 10.6383 TNR 0 genome.wustl.edu 37 1 175365680 175365680 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 175365680 175365680 G A SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.1240 p.H414Y 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNR HGNC ENSG00000116147 135 0 0 58 16 21.6216 ABL2 0 genome.wustl.edu 37 1 179090927 179090927 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 179090927 179090927 G A SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known silent c.763 p.L255 1.000 pfscan_SH2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 76 0 0 28 20 41.6667 AXDND1 0 genome.wustl.edu 37 1 179347776 179347776 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 179347776 179347776 A T SNP AXDND1 ENST00000367618 human ensembl 74_37 +1 known missense c.379 p.I127F 1.000 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 118 0 0 64 4 5.88235 XPR1 0 genome.wustl.edu 37 1 180794433 180794433 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 180794433 180794433 A G SNP XPR1 ENST00000367590 human ensembl 74_37 +1 known missense c.1087 p.T363A 1.000 pfam_EXS_C pfam_EXS_C,pfam_SPX_N - no_errors XPR1 HGNC ENSG00000143324 260 0 0 149 20 11.8343 CACNA1E 0 genome.wustl.edu 37 1 181620510 181620510 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 181620510 181620510 T C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.988 p.Y330H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 219 1 0.454545 143 17 10.625 FAM129A 0 genome.wustl.edu 37 1 184868364 184868364 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 184868364 184868364 C T SNP FAM129A ENST00000367511 human ensembl 74_37 -1 known missense c.134 p.R45H 0.999 NULL NULL - no_errors FAM129A HGNC ENSG00000135842 203 0 0 107 43 28.6667 TRMT1L 0 genome.wustl.edu 37 1 185113148 185113148 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 185113148 185113148 T C SNP TRMT1L ENST00000367506 human ensembl 74_37 -1 known silent c.669 p.K223 1.000 NULL pfam_TRM1,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors TRMT1L HGNC ENSG00000121486 52 0 0 47 3 6 HMCN1 0 genome.wustl.edu 37 1 185897791 185897791 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 185897791 185897791 A T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.1544 p.D515V 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 262 0 0 179 10 5.29101 HMCN1 0 genome.wustl.edu 37 1 185984507 185984507 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 185984507 185984507 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.4847 p.Y1616C 0.943 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 135 0 0 70 8 10.2564 PLA2G4A 0 genome.wustl.edu 37 1 186919810 186919810 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 186919810 186919810 T C SNP PLA2G4A ENST00000367466 human ensembl 74_37 +1 known missense c.1286 p.I429T 1.000 pfam_LysoPLipase_cat_dom,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_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4A HGNC ENSG00000116711 39 0 0 18 5 21.7391 GLRX2 0 genome.wustl.edu 37 1 193066846 193066846 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 193066846 193066846 G T SNP GLRX2 ENST00000367440 human ensembl 74_37 -1 known silent c.231 p.S77 0.539 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,prints_Glutaredoxin_subgr,tigrfam_Glutaredoxin_euk/vir - no_errors GLRX2 HGNC ENSG00000023572 81 0 0 51 22 30.137 UBR4 0 genome.wustl.edu 37 1 19437312 19437312 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 19437312 19437312 G T SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.11816 p.A3939D 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 271 2 0.732601 140 59 29.6482 UBR4 0 genome.wustl.edu 37 1 19473418 19473418 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 19473418 19473418 A G SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.7706 p.V2569A 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 518 2 0.384615 321 24 6.95652 KCNT2 0 genome.wustl.edu 37 1 196227479 196227479 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 196227479 196227479 C T SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known missense c.3056 p.R1019Q 0.969 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 181 0 0 115 13 10.1562 AKR7A2 0 genome.wustl.edu 37 1 19632510 19632510 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 19632510 19632510 A G SNP AKR7A2 ENST00000235835 human ensembl 74_37 -1 known splice_site c.918+2 e6+2 0.999 - - - no_errors AKR7A2 HGNC ENSG00000053371 187 0 0 79 22 21.7822 ASPM 0 genome.wustl.edu 37 1 197073120 197073120 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 197073120 197073120 G A SNP ASPM ENST00000367409 human ensembl 74_37 -1 known missense c.5261 p.A1754V 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS - no_errors ASPM HGNC ENSG00000066279 277 0 0 185 13 6.56566 ZBTB41 0 genome.wustl.edu 37 1 197144177 197144177 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 197144177 197144177 A G SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.1948 p.Y650H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 168 1 0.591716 120 10 7.69231 ZBTB41 0 genome.wustl.edu 37 1 197145784 197145784 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 197145784 197145784 G A SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.1789 p.H597Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 169 1 0.588235 97 11 10.1852 CAMSAP2 0 genome.wustl.edu 37 1 200817864 200817864 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 200817864 200817864 A G SNP CAMSAP2 ENST00000236925 human ensembl 74_37 +1 known missense c.2000 p.N667S 0.951 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 220 0 0 131 8 5.7554 CACNA1S 0 genome.wustl.edu 37 1 201012511 201012511 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201012511 201012511 T C SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.4946 p.Q1649R 0.024 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 185 0 0 88 49 35.7664 CACNA1S 0 genome.wustl.edu 37 1 201027620 201027620 + Splice_Site SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201027620 201027620 C A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known splice_site c.3526-1 e28-1 1.000 - - - no_errors CACNA1S HGNC ENSG00000081248 63 0 0 14 16 53.3333 CACNA1S 0 genome.wustl.edu 37 1 201058496 201058496 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201058496 201058496 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known missense c.790 p.G264S 0.996 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 64 0 0 27 21 43.75 IGFN1 0 genome.wustl.edu 37 1 201183362 201183362 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201183362 201183362 C T SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.8786 p.A2929V 0.020 pfam_Ig_I-set,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 IGFN1 HGNC ENSG00000163395 68 0 0 55 10 15.3846 IGFN1 0 genome.wustl.edu 37 1 201187691 201187691 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201187691 201187691 G A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.9803 p.G3268D 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 61 0 0 33 13 28.2609 ELF3 0 genome.wustl.edu 37 1 201983122 201983122 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201983122 201983122 T C SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.971 p.M324T 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_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 ELF3 HGNC ENSG00000163435 46 0 0 32 3 8.57143 ELF3 0 genome.wustl.edu 37 1 201983137 201983137 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201983137 201983137 T G SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.986 p.L329R 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_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 ELF3 HGNC ENSG00000163435 43 0 0 32 2 5.88235 ELF3 0 genome.wustl.edu 37 1 201984339 201984339 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 201984339 201984339 A G SNP ELF3 ENST00000359651 human ensembl 74_37 +1 known missense c.1004 p.Y335C 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_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 ELF3 HGNC ENSG00000163435 117 0 0 100 10 9.09091 LGR6 0 genome.wustl.edu 37 1 202287753 202287753 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 202287753 202287753 C T SNP LGR6 ENST00000367278 human ensembl 74_37 +1 known silent c.2322 p.H774 0.993 pfam_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam 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 142 0 0 109 12 9.91736 SOX13 0 genome.wustl.edu 37 1 204082173 204082173 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 204082173 204082173 G A SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.130 p.A44T 0.018 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 31 0 0 15 9 37.5 SOX13 0 genome.wustl.edu 37 1 204091106 204091106 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 204091106 204091106 C A SNP SOX13 ENST00000367204 human ensembl 74_37 +1 known missense c.854 p.P285H 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX13 HGNC ENSG00000143842 34 0 0 13 10 43.4783 PLEKHA6 0 genome.wustl.edu 37 1 204228417 204228417 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 204228417 204228417 G C SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.976 p.R326G 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 124 0 0 92 6 6.12245 PLEKHA6 0 genome.wustl.edu 37 1 204230441 204230441 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 204230441 204230441 G A SNP PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known missense c.517 p.R173W 0.437 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 108 1 0.917431 67 33 33 LRRN2 0 genome.wustl.edu 37 1 204588668 204588668 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 204588668 204588668 G A SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known silent c.453 p.N151 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 305 0 0 134 80 37.3832 CNTN2 0 genome.wustl.edu 37 1 205030997 205030997 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 205030997 205030997 G A SNP CNTN2 ENST00000331830 human ensembl 74_37 +1 known silent c.978 p.Q326 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN2 HGNC ENSG00000184144 230 0 0 187 16 7.88177 CDK18 0 genome.wustl.edu 37 1 205492416 205492416 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 205492416 205492416 C T SNP CDK18 ENST00000506784 human ensembl 74_37 +1 known missense c.121 p.R41W 0.001 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 CDK18 HGNC ENSG00000117266 146 0 0 58 20 25.641 PM20D1 0 genome.wustl.edu 37 1 205801816 205801816 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 205801816 205801816 C T SNP PM20D1 ENST00000367136 human ensembl 74_37 -1 known missense c.1195 p.V399I 0.002 pfam_Peptidase_M20 pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer - no_errors PM20D1 HGNC ENSG00000162877 149 1 0.666667 69 30 30.303 SLC26A9 0 genome.wustl.edu 37 1 205884266 205884266 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 205884266 205884266 C A SNP SLC26A9 ENST00000340781 human ensembl 74_37 -1 known missense c.2418 p.E806D 0.001 NULL pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A9 HGNC ENSG00000174502 135 0 0 62 34 35.4167 IKBKE 0 genome.wustl.edu 37 1 206649592 206649592 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 206649592 206649592 C T SNP IKBKE ENST00000367120 human ensembl 74_37 +1 known missense c.427 p.R143C 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 IKBKE HGNC ENSG00000143466 97 0 0 60 30 33.3333 PLXNA2 0 genome.wustl.edu 37 1 208225688 208225688 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 208225688 208225688 T C SNP PLXNA2 ENST00000367033 human ensembl 74_37 -1 known missense c.2977 p.T993A 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA2 HGNC ENSG00000076356 150 0 0 87 5 5.43478 MUL1 0 genome.wustl.edu 37 1 20827485 20827485 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 20827485 20827485 C T SNP MUL1 ENST00000264198 human ensembl 74_37 -1 known missense c.757 p.A253T 0.999 NULL pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 154 0 0 55 28 33.7349 CAMK1G 0 genome.wustl.edu 37 1 209785386 209785386 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 209785386 209785386 C A SNP CAMK1G ENST00000009105 human ensembl 74_37 +1 known missense c.1165 p.L389I 0.997 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 CAMK1G HGNC ENSG00000008118 160 0 0 101 18 15.1261 LAMB3 0 genome.wustl.edu 37 1 209800773 209800773 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 209800773 209800773 C T SNP LAMB3 ENST00000356082 human ensembl 74_37 -1 known silent c.1440 p.P480 0.001 pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB3 HGNC ENSG00000196878 104 0 0 39 19 32.7586 NEK2 0 genome.wustl.edu 37 1 211847636 211847636 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 211847636 211847636 A G SNP NEK2 ENST00000540251 human ensembl 74_37 -1 known splice_site c.185+2 e1+2 0.994 - - - no_errors NEK2 HGNC ENSG00000117650 127 0 0 85 5 5.55556 LPGAT1 0 genome.wustl.edu 37 1 212002654 212002654 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 212002654 212002654 C T SNP LPGAT1 ENST00000488600 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LPGAT1 HGNC ENSG00000123684 287 0 0 141 74 34.4186 PTPN14 0 genome.wustl.edu 37 1 214557902 214557902 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 214557902 214557902 G A SNP PTPN14 ENST00000366956 human ensembl 74_37 -1 known silent c.1296 p.S432 0.999 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN14 HGNC ENSG00000152104 374 1 0.266667 192 91 32.1555 CENPF 0 genome.wustl.edu 37 1 214826249 214826249 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 214826249 214826249 G T SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.8239 p.D2747Y 0.283 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 158 0 0 73 37 33.6364 KCTD3 0 genome.wustl.edu 37 1 215792534 215792534 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 215792534 215792534 T C SNP KCTD3 ENST00000259154 human ensembl 74_37 +1 known missense c.1787 p.L596P 0.990 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors KCTD3 HGNC ENSG00000136636 194 0 0 112 46 29.1139 SPATA17 0 genome.wustl.edu 37 1 218036154 218036154 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 218036154 218036154 A G SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known silent c.1044 p.S348 0.083 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors SPATA17 HGNC ENSG00000162814 227 0 0 112 48 30 HSPG2 0 genome.wustl.edu 37 1 22158013 22158013 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 22158013 22158013 C A SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.11395 p.G3799C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 143 0 0 110 7 5.98291 TP53BP2 0 genome.wustl.edu 37 1 223987704 223987704 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 223987704 223987704 C T SNP TP53BP2 ENST00000343537 human ensembl 74_37 -1 known missense c.1382 p.R461H 1.000 NULL pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors TP53BP2 HGNC ENSG00000143514 123 0 0 83 18 17.8218 CDC42 0 genome.wustl.edu 37 1 22417930 22417930 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 22417930 22417930 A G SNP CDC42 ENST00000421089 human ensembl 74_37 +1 known missense c.622 p.K208E 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors CDC42 HGNC ENSG00000070831 153 0 0 75 32 29.9065 TMEM63A 0 genome.wustl.edu 37 1 226058796 226058796 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 226058796 226058796 C T SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known silent c.351 p.L117 0.987 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 75 0 0 40 9 18.3673 ITPKB 0 genome.wustl.edu 37 1 226924812 226924812 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 226924812 226924812 G A SNP ITPKB ENST00000272117 human ensembl 74_37 -1 known silent c.348 p.A116 0.004 NULL pfam_IPK - no_errors ITPKB HGNC ENSG00000143772 94 0 0 40 13 24.5283 OBSCN 0 genome.wustl.edu 37 1 228451850 228451850 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 228451850 228451850 C T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.4619 p.A1540V 0.000 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 97 0 0 37 16 30.1887 OBSCN 0 genome.wustl.edu 37 1 228496809 228496809 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 228496809 228496809 T C SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.12749 p.V4250A 1.000 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 23 0 0 6 4 40 TTC13 0 genome.wustl.edu 37 1 231061307 231061307 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 231061307 231061307 T C SNP TTC13 ENST00000366661 human ensembl 74_37 -1 known missense c.1544 p.Q515R 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC13 HGNC ENSG00000143643 211 1 0.471698 105 50 32.2581 EPHB2 0 genome.wustl.edu 37 1 23111412 23111412 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 23111412 23111412 G A SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.654 p.S218 0.106 pirsf_Tyr_kinase_ephrin_rcpt pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 132 0 0 72 27 27.2727 GNPAT 0 genome.wustl.edu 37 1 231409726 231409726 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 231409726 231409726 A G SNP GNPAT ENST00000366647 human ensembl 74_37 +1 known missense c.1661 p.K554R 0.003 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GNPAT HGNC ENSG00000116906 145 0 0 89 32 26.4463 SPRTN 0 genome.wustl.edu 37 1 231487133 231487133 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 231487133 231487133 G A SNP SPRTN ENST00000295050 human ensembl 74_37 +1 known silent c.534 p.P178 0.002 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 127 0 0 67 27 28.7234 PCNXL2 0 genome.wustl.edu 37 1 233334764 233334764 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 233334764 233334764 A G SNP PCNXL2 ENST00000258229 human ensembl 74_37 -1 known missense c.2987 p.I996T 0.142 NULL pfam_Pecanex,superfamily_Trypsin-like_Pept_dom - no_errors PCNXL2 HGNC ENSG00000135749 17 0 0 6 7 53.8462 RER1 0 genome.wustl.edu 37 1 2333596 2333596 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 2333596 2333596 G A SNP RER1 ENST00000378512 human ensembl 74_37 +1 known silent c.426 p.V142 0.001 NULL pfam_Rer1 - no_errors RER1 HGNC ENSG00000157916 58 0 0 39 4 9.30233 KDM1A 0 genome.wustl.edu 37 1 23399803 23399803 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 23399803 23399803 A G SNP KDM1A ENST00000542151 human ensembl 74_37 +1 known silent c.1641 p.S547 1.000 pfam_Amino_oxidase,pirsf_Hist_Lys-spec_deMease pfam_Amino_oxidase,pfam_SWIRM,pfam_FAD-dep_OxRdtase,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pirsf_Hist_Lys-spec_deMease,pfscan_SWIRM - no_errors KDM1A HGNC ENSG00000004487 171 0 0 126 13 9.35252 SLC35F3 0 genome.wustl.edu 37 1 234444889 234444889 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 234444889 234444889 G T SNP SLC35F3 ENST00000366617 human ensembl 74_37 +1 known missense c.444 p.K148N 1.000 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 113 0 0 57 19 25 B3GALNT2 0 genome.wustl.edu 37 1 235613631 235613631 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 235613631 235613631 T C SNP B3GALNT2 ENST00000366600 human ensembl 74_37 -1 known missense c.1393 p.T465A 1.000 NULL pfam_Glyco_trans_31 - no_errors B3GALNT2 HGNC ENSG00000162885 114 1 0.869565 44 30 40.5405 LYST 0 genome.wustl.edu 37 1 235973006 235973006 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 235973006 235973006 G T SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.1112 p.P371H 0.984 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 354 0 0 253 17 6.2963 NID1 0 genome.wustl.edu 37 1 236143949 236143949 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 236143949 236143949 G T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.3232 p.L1078I 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_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 86 0 0 38 19 33.3333 NID1 0 genome.wustl.edu 37 1 236201424 236201424 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 236201424 236201424 C T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.1265 p.G422D 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom 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 202 0 0 80 42 34.4262 HEATR1 0 genome.wustl.edu 37 1 236735796 236735796 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 236735796 236735796 T C SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.3622 p.T1208A 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 121 0 0 62 18 22.5 MTR 0 genome.wustl.edu 37 1 236966835 236966835 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 236966835 236966835 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.142 p.E48K 1.000 pfam_S_MeTrfase,superfamily_S_MeTrfase,pirsf_MetH,pfscan_S_MeTrfase,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 154 0 0 78 30 27.7778 MTR 0 genome.wustl.edu 37 1 237054567 237054567 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 237054567 237054567 G A SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.3142 p.A1048T 0.013 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 243 0 0 179 21 10.5 RYR2 0 genome.wustl.edu 37 1 237955558 237955558 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 237955558 237955558 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.13735 p.R4579C 0.989 pfam_Ryanrecept_TM4-6 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 46 0 0 29 10 25.641 ZP4 0 genome.wustl.edu 37 1 238045775 238045775 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 238045775 238045775 A G SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.1570 p.S524P 0.369 NULL pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 261 0 0 181 14 7.17949 LOC100130331 0 genome.wustl.edu 37 1 238090196 238090196 + RNA SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 238090196 238090196 T A SNP LOC100130331 ENST00000450451 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors RP11-193H5.1 Clone_based_vega_gene ENSG00000237250 24 0 0 4 3 42.8571 PITHD1 0 genome.wustl.edu 37 1 24113776 24113776 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 24113776 24113776 C T SNP PITHD1 ENST00000246151 human ensembl 74_37 +1 known silent c.546 p.H182 0.999 NULL pfam_PITH_dom,superfamily_Galactose-bd-like - no_errors PITHD1 HGNC ENSG00000057757 96 0 0 38 15 28.3019 EXO1 0 genome.wustl.edu 37 1 242020786 242020786 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 242020786 242020786 T C SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known splice_site c.543+2 e4+2 1.000 - - - no_errors EXO1 HGNC ENSG00000174371 128 0 0 55 33 37.5 MYOM3 0 genome.wustl.edu 37 1 24421461 24421461 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 24421461 24421461 G A SNP MYOM3 ENST00000330966 human ensembl 74_37 -1 known silent c.813 p.S271 0.002 pfscan_Ig-like_dom 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 MYOM3 HGNC ENSG00000142661 56 0 0 25 14 35.8974 HNRNPU 0 genome.wustl.edu 37 1 245021316 245021316 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 245021316 245021316 A G SNP HNRNPU ENST00000283179 human ensembl 74_37 -1 known silent c.1491 p.C497 1.000 pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase pfam_SPRY_rcpt,pfam_SAP_dom,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl_sf,superfamily_P-loop_NTPase,smart_SAP_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_dom - no_errors HNRNPU HGNC ENSG00000153187 79 0 0 60 8 11.7647 GRHL3 0 genome.wustl.edu 37 1 24664485 24664485 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 24664485 24664485 G A SNP GRHL3 ENST00000350501 human ensembl 74_37 +1 known missense c.844 p.V282M 1.000 pfam_CP2 pfam_CP2,superfamily_C2_dom - no_errors GRHL3 HGNC ENSG00000158055 159 0 0 69 22 24.1758 AHCTF1 0 genome.wustl.edu 37 1 247012967 247012967 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 247012967 247012967 T C SNP AHCTF1 ENST00000326225 human ensembl 74_37 -1 known missense c.6368 p.N2123S 0.020 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors AHCTF1 HGNC ENSG00000153207 218 0 0 118 53 30.9942 NLRP3 0 genome.wustl.edu 37 1 247599444 247599444 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 247599444 247599444 T C SNP NLRP3 ENST00000336119 human ensembl 74_37 +1 known splice_site c.2669+2 e6+2 1.000 - - - no_errors NLRP3 HGNC ENSG00000162711 67 0 0 38 16 29.6296 OR2W5 0 genome.wustl.edu 37 1 247655201 247655201 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 247655201 247655201 C T SNP OR2W5 ENST00000522351 human ensembl 74_37 +1 known rna NULL NULL 0.469 - - - no_errors OR2W5 HGNC ENSG00000203664 249 0 0 119 65 35.3261 OR2T33 0 genome.wustl.edu 37 1 248436525 248436525 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 248436525 248436525 A G SNP OR2T33 ENST00000318021 human ensembl 74_37 -1 known missense c.592 p.Y198H 0.013 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 OR2T33 HGNC ENSG00000177212 68 0 0 41 8 16.3265 OR2G6 0 genome.wustl.edu 37 1 248685831 248685831 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 248685831 248685831 A G SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.884 p.K295R 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 134 0 0 65 23 26.1364 MAN1C1 0 genome.wustl.edu 37 1 26013011 26013011 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 26013011 26013011 C T SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known silent c.621 p.Y207 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 232 0 0 113 39 25.6579 AUNIP 0 genome.wustl.edu 37 1 26164013 26164013 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 26164013 26164013 T C SNP AUNIP ENST00000538789 human ensembl 74_37 -1 known silent c.111 p.L37 0.940 NULL NULL - no_errors AUNIP HGNC ENSG00000127423 170 0 0 130 7 5.10949 ARID1A 0 genome.wustl.edu 37 1 27087503 27087503 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 27087503 27087503 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.2077 p.R693* 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 152 0 0 72 25 25.7732 PIGV 0 genome.wustl.edu 37 1 27121133 27121133 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 27121133 27121133 G A SNP PIGV ENST00000078527 human ensembl 74_37 +1 known missense c.608 p.R203H 1.000 pfam_GPI_Mannosyltransferase_2 pfam_GPI_Mannosyltransferase_2 - no_errors PIGV HGNC ENSG00000060642 143 1 0.694444 83 32 27.8261 GPR3 0 genome.wustl.edu 37 1 27721144 27721144 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 27721144 27721144 T C SNP GPR3 ENST00000374024 human ensembl 74_37 +1 known missense c.842 p.L281P 1.000 pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPR_3/6/12_orphan,prints_GPR3,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR3 HGNC ENSG00000181773 279 0 0 197 12 5.74163 AHDC1 0 genome.wustl.edu 37 1 27875576 27875576 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 27875576 27875576 G A SNP AHDC1 ENST00000247087 human ensembl 74_37 -1 known silent c.3051 p.S1017 0.739 NULL NULL - no_errors AHDC1 HGNC ENSG00000126705 63 0 0 25 16 39.0244 GMEB1 0 genome.wustl.edu 37 1 29016643 29016643 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 29016643 29016643 C A SNP GMEB1 ENST00000294409 human ensembl 74_37 +1 known missense c.186 p.N62K 0.978 NULL pfam_SAND_dom,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB1 HGNC ENSG00000162419 94 0 0 53 20 27.3973 EPB41 0 genome.wustl.edu 37 1 29342242 29342242 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 29342242 29342242 C T SNP EPB41 ENST00000343067 human ensembl 74_37 +1 known missense c.868 p.P290S 1.000 pirsf_Band_41_protein,pfam_FERM_N,smart_Band_41_domain,prints_Ez/rad/moesin_like,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 78 0 0 51 6 10.5263 MATN1 0 genome.wustl.edu 37 1 31189044 31189044 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 31189044 31189044 C T SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.919 p.V307M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 141 0 0 81 43 34.6774 MATN1 0 genome.wustl.edu 37 1 31194406 31194406 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 31194406 31194406 C T SNP MATN1 ENST00000373765 human ensembl 74_37 -1 known missense c.287 p.R96Q 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_VWF_A - no_errors MATN1 HGNC ENSG00000162510 275 0 0 149 50 25.1256 SDC3 0 genome.wustl.edu 37 1 31349583 31349583 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 31349583 31349583 G A SNP SDC3 ENST00000339394 human ensembl 74_37 -1 known missense c.686 p.A229V 0.000 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 60 0 0 26 10 27.7778 SDC3 0 genome.wustl.edu 37 1 31350023 31350023 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 31350023 31350023 G A SNP SDC3 ENST00000336798 human ensembl 74_37 -1 known silent c.72 p.P24 0.000 NULL pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 43 0 0 34 10 22.7273 SNRNP40 0 genome.wustl.edu 37 1 31769597 31769597 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 31769597 31769597 A G SNP SNRNP40 ENST00000446633 human ensembl 74_37 -1 known missense c.2 p.M1T 1.000 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 SNRNP40 HGNC ENSG00000060688 122 0 0 58 24 29.2683 ZCCHC17 0 genome.wustl.edu 37 1 31821730 31821730 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 31821730 31821730 T A SNP ZCCHC17 ENST00000422613 human ensembl 74_37 +1 known missense c.479 p.I160K 1.000 NULL pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors ZCCHC17 HGNC ENSG00000121766 208 0 0 162 9 5.26316 HCRTR1 0 genome.wustl.edu 37 1 32087173 32087173 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 32087173 32087173 C T SNP HCRTR1 ENST00000373706 human ensembl 74_37 +1 known missense c.718 p.R240C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Orexin_rcpt,prints_GPCR_Rhodpsn,prints_Orexin_rcpt_1,prints_NPY_rcpt - no_errors HCRTR1 HGNC ENSG00000121764 269 0 0 174 52 23.0088 COL16A1 0 genome.wustl.edu 37 1 32131193 32131193 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 32131193 32131193 C T SNP COL16A1 ENST00000271069 human ensembl 74_37 -1 known silent c.3483 p.P1161 0.252 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL16A1 HGNC ENSG00000084636 173 0 0 82 29 26.1261 KHDRBS1 0 genome.wustl.edu 37 1 32502514 32502514 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 32502514 32502514 A G SNP KHDRBS1 ENST00000327300 human ensembl 74_37 +1 known missense c.775 p.M259V 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS1 HGNC ENSG00000121774 320 0 0 237 26 9.88593 ZBTB8A 0 genome.wustl.edu 37 1 33060697 33060697 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 33060697 33060697 A C SNP ZBTB8A ENST00000373510 human ensembl 74_37 +1 known missense c.866 p.H289P 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB8A HGNC ENSG00000160062 115 0 0 61 35 36.4583 YARS 0 genome.wustl.edu 37 1 33245249 33245249 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 33245249 33245249 G A SNP YARS ENST00000490826 human ensembl 74_37 -1 known rna NULL NULL 0.051 - - - no_errors YARS HGNC ENSG00000134684 23 0 0 12 5 29.4118 TMEM54 0 genome.wustl.edu 37 1 33363782 33363782 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 33363782 33363782 G A SNP TMEM54 ENST00000373463 human ensembl 74_37 -1 known missense c.155 p.A52V 0.997 pfam_Beta-casein-like pfam_Beta-casein-like - no_errors TMEM54 HGNC ENSG00000121900 120 0 0 53 33 38.3721 TRIM62 0 genome.wustl.edu 37 1 33612784 33612784 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 33612784 33612784 G A SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known silent c.1422 p.R474 0.995 superfamily_ConA-like_lec_gl_sf,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_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 137 1 0.724638 64 45 41.2844 PHC2 0 genome.wustl.edu 37 1 33836082 33836082 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 33836082 33836082 G A SNP PHC2 ENST00000419414 human ensembl 74_37 -1 known silent c.516 p.G172 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC2 HGNC ENSG00000134686 105 0 0 51 25 32.8947 CSMD2 0 genome.wustl.edu 37 1 34401359 34401359 + Splice_Site SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 34401359 34401359 A T SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known splice_site c.712+2 e4+2 1.000 - - - no_errors CSMD2 HGNC ENSG00000121904 72 0 0 48 7 12.7273 GJA4 0 genome.wustl.edu 37 1 35260745 35260745 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 35260745 35260745 C T SNP GJA4 ENST00000342280 human ensembl 74_37 +1 known missense c.931 p.P311S 0.027 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin37 - no_errors GJA4 HGNC ENSG00000187513 55 0 0 26 3 10.3448 WRAP73 0 genome.wustl.edu 37 1 3564057 3564057 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 3564057 3564057 G A SNP WRAP73 ENST00000270708 human ensembl 74_37 -1 known missense c.137 p.T46M 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WRAP73 HGNC ENSG00000116213 78 0 0 54 6 10 KIAA0319L 0 genome.wustl.edu 37 1 35916003 35916003 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 35916003 35916003 C T SNP KIAA0319L ENST00000325722 human ensembl 74_37 -1 known missense c.2170 p.V724I 0.968 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 208 0 0 111 38 25.5034 AGO1 0 genome.wustl.edu 37 1 36379873 36379873 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 36379873 36379873 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.1831 p.A611T 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 115 0 0 58 24 29.2683 AGO1 0 genome.wustl.edu 37 1 36383300 36383300 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 36383300 36383300 G A SNP AGO1 ENST00000373204 human ensembl 74_37 +1 known missense c.2135 p.R712H 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO1 HGNC ENSG00000092847 328 1 0.303951 207 48 18.8235 COL8A2 0 genome.wustl.edu 37 1 36564002 36564002 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 36564002 36564002 C T SNP COL8A2 ENST00000303143 human ensembl 74_37 -1 known missense c.1280 p.G427D 1.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A2 HGNC ENSG00000171812 12 0 0 8 3 27.2727 SH3D21 0 genome.wustl.edu 37 1 36786335 36786335 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 36786335 36786335 A T SNP SH3D21 ENST00000453908 human ensembl 74_37 +1 known missense c.2071 p.T691S 0.000 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 39 0 0 18 3 14.2857 LRRC47 0 genome.wustl.edu 37 1 3697778 3697778 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 3697778 3697778 C A SNP LRRC47 ENST00000378251 human ensembl 74_37 -1 known missense c.1626 p.K542N 0.000 NULL pfam_Leu-rich_rpt,pfam_B3/B4_tRNA-bd,smart_Leu-rich_rpt_typical-subtyp,smart_B3/B4_tRNA-bd - no_errors LRRC47 HGNC ENSG00000130764 159 0 0 98 35 26.3158 CEP104 0 genome.wustl.edu 37 1 3768907 3768907 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 3768907 3768907 C T SNP CEP104 ENST00000378230 human ensembl 74_37 -1 known missense c.65 p.R22Q 0.782 superfamily_Galactose-bd-like superfamily_Galactose-bd-like,superfamily_ARM-type_fold - no_errors CEP104 HGNC ENSG00000116198 75 0 0 41 11 21.1538 MEAF6 0 genome.wustl.edu 37 1 37967295 37967295 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 37967295 37967295 C T SNP MEAF6 ENST00000485039 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MEAF6 HGNC ENSG00000163875 116 0 0 71 29 29 SNIP1 0 genome.wustl.edu 37 1 38006327 38006327 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 38006327 38006327 C T SNP SNIP1 ENST00000296215 human ensembl 74_37 -1 known silent c.357 p.R119 0.037 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SNIP1 HGNC ENSG00000163877 206 0 0 85 47 35.6061 DNALI1 0 genome.wustl.edu 37 1 38027281 38027281 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 38027281 38027281 T C SNP DNALI1 ENST00000296218 human ensembl 74_37 +1 known missense c.587 p.F196S 0.998 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 66 0 0 36 11 23.4043 EPHA10 0 genome.wustl.edu 37 1 38185714 38185714 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 38185714 38185714 G A SNP EPHA10 ENST00000427468 human ensembl 74_37 -1 known missense c.2429 p.A810V 0.758 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA10 HGNC ENSG00000183317 69 0 0 29 8 21.6216 SF3A3 0 genome.wustl.edu 37 1 38453481 38453481 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 38453481 38453481 T C SNP SF3A3 ENST00000373019 human ensembl 74_37 -1 known missense c.172 p.R58G 1.000 NULL pfam_DUF3449,pfam_SF3a60_bindingd,pfscan_Znf_C2H2_matrin - no_errors SF3A3 HGNC ENSG00000183431 245 0 0 123 60 32.7869 MACF1 0 genome.wustl.edu 37 1 39549962 39549962 + Silent SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 39549962 39549962 A T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known silent c.72 p.R24 0.809 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 99 0 0 58 18 23.6842 MACF1 0 genome.wustl.edu 37 1 39750009 39750009 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 39750009 39750009 T C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.1055 p.L352P 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 93 0 0 54 9 14.2857 MACF1 0 genome.wustl.edu 37 1 39853184 39853184 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 39853184 39853184 A C SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.8484 p.K2828N 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 197 0 0 107 50 31.8471 HPCAL4 0 genome.wustl.edu 37 1 40149793 40149793 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 40149793 40149793 G A SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known missense c.194 p.A65V 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 63 0 0 27 15 35.7143 OXCT2 0 genome.wustl.edu 37 1 40235971 40235971 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 40235971 40235971 G A SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known silent c.957 p.G319 1.000 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 110 0 0 42 12 22.2222 PPT1 0 genome.wustl.edu 37 1 40546147 40546147 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 40546147 40546147 G A SNP PPT1 ENST00000433473 human ensembl 74_37 -1 known silent c.549 p.A183 0.892 pfam_Palm_thioest pfam_Palm_thioest,prints_Palm_thioest - no_errors PPT1 HGNC ENSG00000131238 500 1 0.199601 271 119 30.5128 EXO5 0 genome.wustl.edu 37 1 40981063 40981063 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 40981063 40981063 G A SNP EXO5 ENST00000296380 human ensembl 74_37 +1 known missense c.847 p.D283N 1.000 pfam_EXOV pfam_EXOV - no_errors EXO5 HGNC ENSG00000164002 284 0 0 216 13 5.67686 SLC2A1 0 genome.wustl.edu 37 1 43393358 43393358 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 43393358 43393358 G T SNP SLC2A1 ENST00000426263 human ensembl 74_37 -1 known missense c.1196 p.P399Q 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glu_transpt_1,tigrfam_Sugar/inositol_transpt - no_errors SLC2A1 HGNC ENSG00000117394 80 0 0 34 14 29.1667 WDR65 0 genome.wustl.edu 37 1 43647224 43647224 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 43647224 43647224 C T SNP WDR65 ENST00000528956 human ensembl 74_37 +1 known silent c.177 p.G59 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR65 HGNC ENSG00000243710 124 1 0.8 76 13 14.6067 SZT2 0 genome.wustl.edu 37 1 43887819 43887819 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 43887819 43887819 A G SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known silent c.1692 p.P564 0.903 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 41 0 0 28 5 15.1515 SZT2 0 genome.wustl.edu 37 1 43906258 43906258 + Splice_Site SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 43906258 43906258 G A SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known splice_site c.7173+1 e51+1 1.000 - - - no_errors SZT2 HGNC ENSG00000198198 113 0 0 73 29 28.4314 PTPRF 0 genome.wustl.edu 37 1 44054460 44054460 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 44054460 44054460 C T SNP PTPRF ENST00000359947 human ensembl 74_37 +1 known silent c.738 p.G246 0.878 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRF HGNC ENSG00000142949 58 0 0 26 17 39.5349 SNORD46 0 genome.wustl.edu 37 1 45242170 45242170 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 45242170 45242170 T C SNP SNORD46 ENST00000364043 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD46 HGNC ENSG00000200913 391 0 0 201 84 29.4737 RPS8 0 genome.wustl.edu 37 1 45244276 45244276 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 45244276 45244276 T C SNP RPS8 ENST00000396651 human ensembl 74_37 +1 known silent c.546 p.C182 0.999 pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e pfam_Ribosomal_S8e/biogenesis_NSA2,tigrfam_Ribosomal_S8e - no_errors RPS8 HGNC ENSG00000142937 90 0 0 41 17 29.3103 PLK3 0 genome.wustl.edu 37 1 45271337 45271337 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 45271337 45271337 G A SNP PLK3 ENST00000372201 human ensembl 74_37 +1 known missense c.1928 p.R643H 0.933 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK3 HGNC ENSG00000173846 144 0 0 99 7 6.60377 EIF2B3 0 genome.wustl.edu 37 1 45345614 45345614 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 45345614 45345614 G A SNP EIF2B3 ENST00000360403 human ensembl 74_37 -1 known missense c.851 p.A284V 1.000 NULL pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 128 0 0 44 36 45 HECTD3 0 genome.wustl.edu 37 1 45472378 45472378 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 45472378 45472378 G A SNP HECTD3 ENST00000372172 human ensembl 74_37 -1 known missense c.1711 p.R571C 1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT - no_errors HECTD3 HGNC ENSG00000126107 151 0 0 76 27 26.2136 TOE1 0 genome.wustl.edu 37 1 45808127 45808127 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 45808127 45808127 G A SNP TOE1 ENST00000372090 human ensembl 74_37 +1 known silent c.564 p.V188 0.938 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_Znf_CCCH,superfamily_RNaseH-like_dom - no_errors TOE1 HGNC ENSG00000132773 282 0 0 149 58 28.0193 MAST2 0 genome.wustl.edu 37 1 46489481 46489481 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 46489481 46489481 C T SNP MAST2 ENST00000361297 human ensembl 74_37 +1 known missense c.1609 p.R537C 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_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_dom - no_errors MAST2 HGNC ENSG00000086015 67 0 0 23 17 42.5 POMGNT1 0 genome.wustl.edu 37 1 46659443 46659443 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 46659443 46659443 G A SNP POMGNT1 ENST00000477114 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors POMGNT1 HGNC ENSG00000085998 22 0 0 12 6 33.3333 EFCAB14 0 genome.wustl.edu 37 1 47155282 47155282 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 47155282 47155282 T C SNP EFCAB14 ENST00000371933 human ensembl 74_37 -1 known missense c.772 p.T258A 1.000 NULL pfscan_EF_hand_dom - no_errors EFCAB14 HGNC ENSG00000159658 262 0 0 182 10 5.20833 AJAP1 0 genome.wustl.edu 37 1 4772104 4772104 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 4772104 4772104 C T SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.174 p.P58 0.088 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 205 0 0 130 9 6.47482 SLC5A9 0 genome.wustl.edu 37 1 48701407 48701407 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 48701407 48701407 G A SNP SLC5A9 ENST00000236495 human ensembl 74_37 +1 known missense c.1223 p.R408Q 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 SLC5A9 HGNC ENSG00000117834 92 0 0 41 23 35.9375 FAF1 0 genome.wustl.edu 37 1 51425455 51425455 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 51425455 51425455 A C SNP FAF1 ENST00000371778 human ensembl 74_37 -1 known missense c.29 p.I10S 1.000 superfamily_UBA-like pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 193 0 0 81 27 25 RAB3B 0 genome.wustl.edu 37 1 52403029 52403029 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 52403029 52403029 G A SNP RAB3B ENST00000371655 human ensembl 74_37 -1 known missense c.284 p.A95V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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_Gtr1_RagA,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 RAB3B HGNC ENSG00000169213 322 0 0 157 83 34.5833 PRPF38A 0 genome.wustl.edu 37 1 52870494 52870494 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 52870494 52870494 A G SNP PRPF38A ENST00000257181 human ensembl 74_37 +1 known missense c.73 p.I25V 1.000 pfam_PRP38 pfam_PRP38 - no_errors PRPF38A HGNC ENSG00000134748 219 0 0 136 56 29.1667 ACOT11 0 genome.wustl.edu 37 1 55067074 55067074 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 55067074 55067074 G A SNP ACOT11 ENST00000371316 human ensembl 74_37 +1 known silent c.1017 p.R339 0.948 NULL pfam_START_lipid-bd_dom,pfam_Thioestr_supf,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom - no_errors ACOT11 HGNC ENSG00000162390 177 0 0 89 31 25.8333 FAM151A 0 genome.wustl.edu 37 1 55075118 55075118 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 55075118 55075118 C T SNP FAM151A ENST00000302250 human ensembl 74_37 -1 known silent c.1581 p.R527 0.968 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 165 1 0.60241 97 44 31.2057 TTC4 0 genome.wustl.edu 37 1 55182282 55182282 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 55182282 55182282 A G SNP TTC4 ENST00000371281 human ensembl 74_37 +1 known missense c.121 p.K41E 0.999 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 164 0 0 116 9 7.2 PRKAA2 0 genome.wustl.edu 37 1 57169936 57169936 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 57169936 57169936 C A SNP PRKAA2 ENST00000371244 human ensembl 74_37 +1 known missense c.1081 p.P361T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRKAA2 HGNC ENSG00000162409 177 0 0 68 36 34.6154 MYSM1 0 genome.wustl.edu 37 1 59139300 59139300 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 59139300 59139300 C T SNP MYSM1 ENST00000472487 human ensembl 74_37 -1 known missense c.1517 p.R506Q 1.000 NULL pfam_SWIRM,pfam_JAB_MPN_dom,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,smart_JAB_MPN_dom,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors MYSM1 HGNC ENSG00000162601 88 0 0 37 20 35.0877 NPHP4 0 genome.wustl.edu 37 1 5925274 5925274 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 5925274 5925274 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.3704 p.R1235H 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 16 0 0 9 3 25 HOOK1 0 genome.wustl.edu 37 1 60331559 60331559 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 60331559 60331559 A G SNP HOOK1 ENST00000371208 human ensembl 74_37 +1 known missense c.1760 p.E587G 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin - no_errors HOOK1 HGNC ENSG00000134709 102 0 0 62 4 6.06061 INADL 0 genome.wustl.edu 37 1 62228824 62228824 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 62228824 62228824 G A SNP INADL ENST00000371158 human ensembl 74_37 +1 known silent c.162 p.Q54 1.000 pfam_L27_2,smart_L27,pfscan_L27 pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors INADL HGNC ENSG00000132849 131 0 0 78 6 7.14286 KANK4 0 genome.wustl.edu 37 1 62728927 62728927 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 62728927 62728927 C T SNP KANK4 ENST00000371153 human ensembl 74_37 -1 known silent c.2376 p.S792 0.330 NULL pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK4 HGNC ENSG00000132854 45 0 0 22 8 26.6667 DOCK7 0 genome.wustl.edu 37 1 62979473 62979473 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 62979473 62979473 G A SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known nonsense c.4033 p.Q1345* 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 307 0 0 150 61 28.91 ACOT7 0 genome.wustl.edu 37 1 6341163 6341163 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 6341163 6341163 A G SNP ACOT7 ENST00000377855 human ensembl 74_37 -1 known missense c.1043 p.V348A 0.990 NULL pfam_Thioestr_supf - no_errors ACOT7 HGNC ENSG00000097021 39 0 0 29 6 17.1429 LEPR 0 genome.wustl.edu 37 1 66081718 66081718 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 66081718 66081718 A T SNP LEPR ENST00000349533 human ensembl 74_37 +1 known missense c.2023 p.S675C 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_IgC2-like_lig-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LEPR HGNC ENSG00000116678 179 0 0 80 32 28.5714 MIER1 0 genome.wustl.edu 37 1 67437384 67437384 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 67437384 67437384 T C SNP MIER1 ENST00000401041 human ensembl 74_37 +1 known missense c.971 p.L324S 1.000 superfamily_Homeodomain-like,pfscan_ELM2_dom pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER1 HGNC ENSG00000198160 131 0 0 66 18 21.4286 IL23R 0 genome.wustl.edu 37 1 67635241 67635241 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 67635241 67635241 A G SNP IL23R ENST00000347310 human ensembl 74_37 +1 known missense c.287 p.H96R 0.000 NULL superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 243 0 0 125 55 30.5556 IL12RB2 0 genome.wustl.edu 37 1 67861635 67861635 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 67861635 67861635 T A SNP IL12RB2 ENST00000262345 human ensembl 74_37 +1 known missense c.2452 p.S818T 0.001 NULL pfam_Fibronectin_type3,pfam_IgC2-like_lig-bd,pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL12RB2 HGNC ENSG00000081985 713 0 0 380 190 33.3333 PIN1P1 0 genome.wustl.edu 37 1 70385516 70385516 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 70385516 70385516 C T SNP PIN1P1 ENST00000412108 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors PIN1P1 HGNC ENSG00000229359 16 0 0 4 6 60 FPGT 0 genome.wustl.edu 37 1 74671452 74671452 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 74671452 74671452 A G SNP FPGT ENST00000370898 human ensembl 74_37 +1 known missense c.1760 p.E587G 1.000 pirsf_Fucose-1-phosphate_GuaTrfase pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase - no_errors FPGT HGNC ENSG00000254685 92 0 0 51 7 12.069 ENSG00000224149 0 genome.wustl.edu 37 1 75596507 75596507 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 75596507 75596507 T C SNP ENSG00000224149 ENST00000427892 human ensembl 74_37 -1 known rna NULL NULL 0.064 - - - no_errors RP11-510C10.3 Clone_based_vega_gene ENSG00000224149 62 0 0 30 9 23.0769 RABGGTB 0 genome.wustl.edu 37 1 76251915 76251915 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 76251915 76251915 C T SNP RABGGTB ENST00000473406 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RABGGTB HGNC ENSG00000137955 129 0 0 40 23 36.5079 ZZZ3 0 genome.wustl.edu 37 1 78050227 78050227 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 78050227 78050227 C T SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known missense c.1619 p.G540E 1.000 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 167 0 0 119 7 5.55556 ZZZ3 0 genome.wustl.edu 37 1 78097960 78097960 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 78097960 78097960 A G SNP ZZZ3 ENST00000370801 human ensembl 74_37 -1 known silent c.1080 p.C360 0.998 NULL pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors ZZZ3 HGNC ENSG00000036549 279 0 0 130 52 28.5714 SLC45A1 0 genome.wustl.edu 37 1 8384399 8384399 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 8384399 8384399 G A SNP SLC45A1 ENST00000377479 human ensembl 74_37 +1 known missense c.112 p.A38T 0.832 NULL pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A1 HGNC ENSG00000162426 227 0 0 125 60 32.4324 WDR63 0 genome.wustl.edu 37 1 85563328 85563328 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 85563328 85563328 C T SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.1340 p.A447V 0.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 62 0 0 35 4 10.2564 COL24A1 0 genome.wustl.edu 37 1 86591704 86591704 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 86591704 86591704 C T SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known silent c.315 p.P105 0.753 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 128 0 0 76 27 26.2136 CLCA1 0 genome.wustl.edu 37 1 86947904 86947904 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 86947904 86947904 A G SNP CLCA1 ENST00000234701 human ensembl 74_37 +1 known missense c.574 p.T192A 0.003 pfam_Cl_channel_Ca,tigrfam_CaCC_prot pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,superfamily_Fibronectin_type3,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot - no_errors CLCA1 HGNC ENSG00000016490 62 0 0 30 23 43.3962 CLCA3P 0 genome.wustl.edu 37 1 87102526 87102526 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 87102526 87102526 A G SNP CLCA3P ENST00000284054 human ensembl 74_37 +1 known rna NULL NULL 0.937 - - - no_errors CLCA3P HGNC ENSG00000153923 136 0 0 86 15 14.8515 GBP2 0 genome.wustl.edu 37 1 89582734 89582734 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 89582734 89582734 T C SNP GBP2 ENST00000370466 human ensembl 74_37 -1 known missense c.809 p.Y270C 0.987 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP2 HGNC ENSG00000162645 122 0 0 65 5 7.14286 KLHL17 0 genome.wustl.edu 37 1 898538 898538 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 898538 898538 G A SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known silent c.1092 p.T364 0.179 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 KLHL17 HGNC ENSG00000187961 39 0 0 17 9 34.6154 LRRC8B 0 genome.wustl.edu 37 1 90050223 90050223 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 90050223 90050223 C A SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.2014 p.P672T 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 261 0 0 150 18 10.7143 ZNF326 0 genome.wustl.edu 37 1 90478719 90478719 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 90478719 90478719 G A SNP ZNF326 ENST00000340281 human ensembl 74_37 +1 known silent c.849 p.K283 0.996 NULL pfam_AKAP95 - no_errors ZNF326 HGNC ENSG00000162664 51 0 0 32 7 17.9487 ZNF644 0 genome.wustl.edu 37 1 91405022 91405022 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 91405022 91405022 A T SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.1889 p.I630N 0.139 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 249 0 0 109 37 25.3425 ZNF644 0 genome.wustl.edu 37 1 91406587 91406587 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 91406587 91406587 A G SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known silent c.324 p.F108 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 146 0 0 81 11 11.9565 DNTTIP2 0 genome.wustl.edu 37 1 94335492 94335492 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 94335492 94335492 C T SNP DNTTIP2 ENST00000436063 human ensembl 74_37 -1 known missense c.2186 p.R729Q 1.000 pfam_Fcf2 pfam_Fcf2 - no_errors DNTTIP2 HGNC ENSG00000067334 72 0 0 41 11 21.1538 RWDD3 0 genome.wustl.edu 37 1 95710198 95710198 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 95710198 95710198 A G SNP RWDD3 ENST00000370202 human ensembl 74_37 +1 known missense c.517 p.M173V 1.000 NULL pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pfscan_RWD-domain - no_errors RWDD3 HGNC ENSG00000122481 273 0 0 179 17 8.67347 PTBP2 0 genome.wustl.edu 37 1 97250594 97250594 + RNA SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 97250594 97250594 A T SNP PTBP2 ENST00000459735 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PTBP2 HGNC ENSG00000117569 112 0 0 76 25 24.7525 PIK3CD 0 genome.wustl.edu 37 1 9777080 9777080 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 9777080 9777080 A G SNP PIK3CD ENST00000377346 human ensembl 74_37 +1 known missense c.844 p.I282V 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CD HGNC ENSG00000171608 206 0 0 166 20 10.7527 AGRN 0 genome.wustl.edu 37 1 978991 978991 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 978991 978991 C T SNP AGRN ENST00000379370 human ensembl 74_37 +1 known silent c.1677 p.C559 0.992 pfam_Kazal_dom,smart_FacI_MAC,smart_Kazal_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 146 0 0 101 35 25.7353 LPPR5 0 genome.wustl.edu 37 1 99380342 99380342 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 99380342 99380342 C A SNP LPPR5 ENST00000263177 human ensembl 74_37 -1 known missense c.933 p.Q311H 1.000 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 113 0 0 69 18 20.6897 LOC101927255 0 genome.wustl.edu 37 10 100015567 100015567 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 100015567 100015567 G A SNP LOC101927255 ENST00000433374 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-34A14.3 Clone_based_vega_gene ENSG00000230928 37 0 0 25 6 19.3548 COX15 0 genome.wustl.edu 37 10 101487291 101487291 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 101487291 101487291 T A SNP COX15 ENST00000016171 human ensembl 74_37 -1 known missense c.302 p.D101V 1.000 pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom pfam_HemeA_syn,superfamily_Trypsin-like_Pept_dom - no_errors COX15 HGNC ENSG00000014919 179 0 0 99 40 28.777 PAX2 0 genome.wustl.edu 37 10 102566235 102566235 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 102566235 102566235 A G SNP PAX2 ENST00000370296 human ensembl 74_37 +1 known missense c.734 p.D245G 1.000 NULL pfam_Paired_dom,pfam_Pax2_C,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX2 HGNC ENSG00000075891 461 0 0 342 18 5 FAM178A 0 genome.wustl.edu 37 10 102684471 102684471 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 102684471 102684471 A G SNP FAM178A ENST00000370269 human ensembl 74_37 +1 known silent c.1713 p.A571 0.584 NULL NULL - no_errors FAM178A HGNC ENSG00000119906 191 0 0 105 42 28.5714 LZTS2 0 genome.wustl.edu 37 10 102762542 102762542 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 102762542 102762542 G T SNP LZTS2 ENST00000370220 human ensembl 74_37 +1 known missense c.247 p.V83F 0.019 NULL NULL - no_errors LZTS2 HGNC ENSG00000107816 113 0 0 40 16 28.5714 SFXN3 0 genome.wustl.edu 37 10 102799358 102799358 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 102799358 102799358 G A SNP SFXN3 ENST00000466982 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SFXN3 HGNC ENSG00000107819 129 0 0 66 24 26.6667 TLX1 0 genome.wustl.edu 37 10 102891794 102891794 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 102891794 102891794 G A SNP TLX1 ENST00000370196 human ensembl 74_37 +1 known missense c.496 p.V166I 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors TLX1 HGNC ENSG00000107807 34 0 0 12 5 29.4118 C10orf76 0 genome.wustl.edu 37 10 103717427 103717427 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 103717427 103717427 T A SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.1558 p.I520F 1.000 pfam_DUF1741,superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 28 0 0 22 4 15.3846 PPRC1 0 genome.wustl.edu 37 10 103899979 103899979 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 103899979 103899979 A G SNP PPRC1 ENST00000278070 human ensembl 74_37 +1 known missense c.1714 p.T572A 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPRC1 HGNC ENSG00000148840 160 0 0 122 8 6.15385 C10orf95 0 genome.wustl.edu 37 10 104211207 104211207 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 104211207 104211207 C T SNP C10orf95 ENST00000239125 human ensembl 74_37 -1 known missense c.19 p.A7T 0.007 NULL NULL - no_errors C10orf95 HGNC ENSG00000120055 64 0 0 28 8 22.2222 SFXN2 0 genome.wustl.edu 37 10 104491950 104491950 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 104491950 104491950 G A SNP SFXN2 ENST00000369893 human ensembl 74_37 +1 known silent c.696 p.R232 1.000 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 150 0 0 82 23 21.9048 SFXN2 0 genome.wustl.edu 37 10 104497475 104497475 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 104497475 104497475 T C SNP SFXN2 ENST00000369893 human ensembl 74_37 +1 known missense c.925 p.Y309H 0.999 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN2 HGNC ENSG00000156398 159 0 0 106 19 15.2 CNNM2 0 genome.wustl.edu 37 10 104679214 104679214 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 104679214 104679214 T C SNP CNNM2 ENST00000369878 human ensembl 74_37 +1 known missense c.977 p.V326A 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 94 0 0 36 24 40 NT5C2 0 genome.wustl.edu 37 10 104934730 104934730 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 104934730 104934730 A G SNP NT5C2 ENST00000467380 human ensembl 74_37 -1 known rna NULL NULL 0.160 - - - no_errors NT5C2 HGNC ENSG00000076685 236 0 0 145 32 18.0791 PDCD11 0 genome.wustl.edu 37 10 105182764 105182764 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 105182764 105182764 G A SNP PDCD11 ENST00000369797 human ensembl 74_37 +1 known silent c.2517 p.T839 0.005 superfamily_NA-bd_OB-fold pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Suf,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_HAT,pfscan_TPR-contain_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,prints_Ribosomal_S1 - no_errors PDCD11 HGNC ENSG00000148843 133 0 0 83 26 23.8532 OBFC1 0 genome.wustl.edu 37 10 105642431 105642431 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 105642431 105642431 C T SNP OBFC1 ENST00000466828 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors OBFC1 HGNC ENSG00000107960 178 0 0 92 50 35.2113 SORCS3 0 genome.wustl.edu 37 10 106974273 106974273 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 106974273 106974273 C A SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2449 p.P817T 1.000 superfamily_PKD_dom,smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 123 0 0 43 32 42.6667 DUSP5 0 genome.wustl.edu 37 10 112258064 112258064 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 112258064 112258064 C T SNP DUSP5 ENST00000369583 human ensembl 74_37 +1 known missense c.185 p.A62V 0.989 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pirsf_MKP,pfscan_Rhodanese-like_dom,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP5 HGNC ENSG00000138166 49 0 0 25 5 16.6667 ADRA2A 0 genome.wustl.edu 37 10 112838169 112838169 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 112838169 112838169 C A SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.415 p.L139M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 80 0 0 39 7 15.2174 GPAM 0 genome.wustl.edu 37 10 113913352 113913352 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 113913352 113913352 G A SNP GPAM ENST00000348367 human ensembl 74_37 -1 known nonsense c.2443 p.R815* 1.000 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors GPAM HGNC ENSG00000119927 282 0 0 133 65 32.8283 NRAP 0 genome.wustl.edu 37 10 115355426 115355426 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 115355426 115355426 G T SNP NRAP ENST00000369358 human ensembl 74_37 -1 known missense c.4516 p.P1506T 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_Znf_LIM,smart_Znf_LIM,smart_Nebulin_35r-motif,pfscan_Znf_LIM,pfscan_Nebulin_35r-motif,prints_Nebulin - no_errors NRAP HGNC ENSG00000197893 204 1 0.487805 90 34 27.4194 ADRB1 0 genome.wustl.edu 37 10 115804211 115804211 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 115804211 115804211 T C SNP ADRB1 ENST00000369295 human ensembl 74_37 +1 known missense c.320 p.M107T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB1_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_5HT6_rcpt - no_errors ADRB1 HGNC ENSG00000043591 171 1 0.581395 80 30 27.2727 TDRD1 0 genome.wustl.edu 37 10 115973165 115973165 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 115973165 115973165 T C SNP TDRD1 ENST00000251864 human ensembl 74_37 +1 known missense c.1892 p.V631A 0.147 NULL pfam_Tudor,pfam_Znf_MYND,smart_Tudor,pfscan_Tudor,pfscan_Znf_MYND - no_errors TDRD1 HGNC ENSG00000095627 200 0 0 117 37 24.026 ABLIM1 0 genome.wustl.edu 37 10 116203839 116203839 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 116203839 116203839 G A SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.1882 p.R628W 1.000 NULL pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM1 HGNC ENSG00000099204 255 0 0 126 54 30 ATRNL1 0 genome.wustl.edu 37 10 117309003 117309003 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 117309003 117309003 T C SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known missense c.3752 p.V1251A 0.990 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 98 0 0 54 25 31.6456 SLC18A2 0 genome.wustl.edu 37 10 119001291 119001291 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 119001291 119001291 G A SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known silent c.87 p.A29 0.999 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 58 0 0 17 15 46.875 SLC18A2 0 genome.wustl.edu 37 10 119027216 119027216 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 119027216 119027216 A G SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.1155 p.I385M 0.982 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 57 0 0 16 15 48.3871 INPP5F 0 genome.wustl.edu 37 10 121567530 121567530 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 121567530 121567530 T C SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known silent c.1527 p.G509 0.398 pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 167 0 0 91 27 22.8814 MCMBP 0 genome.wustl.edu 37 10 121616985 121616985 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 121616985 121616985 T C SNP MCMBP ENST00000495407 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MCMBP HGNC ENSG00000197771 56 0 0 45 6 11.7647 SEC23IP 0 genome.wustl.edu 37 10 121677919 121677919 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 121677919 121677919 T A SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known missense c.1768 p.F590I 1.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 88 0 0 51 12 19.0476 ACADSB 0 genome.wustl.edu 37 10 124800876 124800876 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 124800876 124800876 C T SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.662 p.A221V 0.994 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 272 0 0 129 48 27.1186 BUB3 0 genome.wustl.edu 37 10 124914613 124914613 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 124914613 124914613 G A SNP BUB3 ENST00000368865 human ensembl 74_37 +1 known silent c.180 p.L60 0.994 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat 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 BUB3 HGNC ENSG00000154473 103 0 0 80 7 8.04598 CPXM2 0 genome.wustl.edu 37 10 125539730 125539730 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 125539730 125539730 T C SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.931 p.T311A 1.000 NULL pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 298 0 0 184 17 8.45771 CPXM2 0 genome.wustl.edu 37 10 125601969 125601969 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 125601969 125601969 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known silent c.549 p.A183 0.150 pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 103 0 0 42 14 25 BCCIP 0 genome.wustl.edu 37 10 127524753 127524753 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 127524753 127524753 A G SNP BCCIP ENST00000278100 human ensembl 74_37 +1 known silent c.855 p.V285 0.001 NULL NULL - no_errors BCCIP HGNC ENSG00000107949 246 0 0 123 58 32.0442 FAM196A 0 genome.wustl.edu 37 10 128952176 128952176 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 128952176 128952176 C T SNP FAM196A ENST00000522781 human ensembl 74_37 -1 known missense c.1196 p.R399Q 1.000 NULL NULL - no_errors FAM196A HGNC ENSG00000188916 116 0 0 77 9 10.4651 MKI67 0 genome.wustl.edu 37 10 129904261 129904261 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 129904261 129904261 G A SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.5843 p.A1948V 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 547 0 0 267 123 31.5385 MKI67 0 genome.wustl.edu 37 10 129906745 129906745 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 129906745 129906745 G C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known missense c.3359 p.T1120S 0.001 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 662 1 0.15083 338 138 28.9916 OPTN 0 genome.wustl.edu 37 10 13166057 13166057 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 13166057 13166057 G T SNP OPTN ENST00000263036 human ensembl 74_37 +1 known missense c.945 p.E315D 0.986 NULL pfam_NEMO_N - no_errors OPTN HGNC ENSG00000123240 41 0 0 25 6 19.3548 PHYH 0 genome.wustl.edu 37 10 13337526 13337526 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 13337526 13337526 A G SNP PHYH ENST00000263038 human ensembl 74_37 -1 known missense c.215 p.L72P 1.000 pfam_Phytyl_CoA_dOase pfam_Phytyl_CoA_dOase - no_errors PHYH HGNC ENSG00000107537 91 0 0 63 16 20.2532 TTC40 0 genome.wustl.edu 37 10 134628370 134628370 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 134628370 134628370 C T SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.1649 p.S550N 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 328 0 0 274 17 5.84192 TTC40 0 genome.wustl.edu 37 10 134750555 134750555 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 134750555 134750555 C T SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known missense c.665 p.R222H 0.143 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 19 0 0 14 8 36.3636 FAM171A1 0 genome.wustl.edu 37 10 15325918 15325918 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 15325918 15325918 T C SNP FAM171A1 ENST00000378116 human ensembl 74_37 -1 known missense c.284 p.Y95C 0.998 pfam_Uncharacterised_FAM171 pfam_Uncharacterised_FAM171 - no_errors FAM171A1 HGNC ENSG00000148468 100 0 0 56 15 21.1268 ITGA8 0 genome.wustl.edu 37 10 15720763 15720763 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 15720763 15720763 G A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known silent c.588 p.G196 0.996 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 161 0 0 73 40 35.3982 FAM188A 0 genome.wustl.edu 37 10 15875660 15875660 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 15875660 15875660 T C SNP FAM188A ENST00000277632 human ensembl 74_37 -1 known silent c.699 p.V233 0.666 NULL NULL - no_errors FAM188A HGNC ENSG00000148481 111 0 0 90 6 6.25 CUBN 0 genome.wustl.edu 37 10 16967691 16967691 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 16967691 16967691 A G SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.6354 p.C2118 0.998 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 119 1 0.833333 56 18 24.3243 PLXDC2 0 genome.wustl.edu 37 10 20453414 20453414 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 20453414 20453414 A G SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.801 p.T267 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 111 0 0 45 22 32.8358 SKIDA1 0 genome.wustl.edu 37 10 21805019 21805019 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 21805019 21805019 G C SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known missense c.1733 p.A578G 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 233 0 0 114 50 30.4878 ARHGAP21 0 genome.wustl.edu 37 10 24909045 24909045 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 24909045 24909045 C T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known silent c.1779 p.L593 0.001 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 257 0 0 121 57 32.0225 ARHGAP21 0 genome.wustl.edu 37 10 24910013 24910013 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 24910013 24910013 C T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.811 p.V271I 0.898 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 133 0 0 104 8 7.14286 KIAA1462 0 genome.wustl.edu 37 10 30315149 30315149 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 30315149 30315149 G A SNP KIAA1462 ENST00000375377 human ensembl 74_37 -1 known missense c.3928 p.R1310C 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 162 0 0 98 40 28.9855 MTPAP 0 genome.wustl.edu 37 10 30615351 30615351 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 30615351 30615351 A G SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known splice_site c.1382+2 e6+2 1.000 - - - no_errors MTPAP HGNC ENSG00000107951 189 0 0 85 38 30.8943 ZNF438 0 genome.wustl.edu 37 10 31134236 31134236 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 31134236 31134236 T C SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.2141 p.H714R 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 165 0 0 112 12 9.67742 ZNF438 0 genome.wustl.edu 37 10 31138295 31138295 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 31138295 31138295 G A SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.1039 p.P347S 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 214 0 0 119 21 15 PFKP 0 genome.wustl.edu 37 10 3147695 3147695 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 3147695 3147695 T C SNP PFKP ENST00000381125 human ensembl 74_37 +1 known splice_site c.774+2 e7+2 1.000 - - - no_errors PFKP HGNC ENSG00000067057 124 0 0 106 6 5.35714 PARD3 0 genome.wustl.edu 37 10 34620079 34620079 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 34620079 34620079 G A SNP PARD3 ENST00000374789 human ensembl 74_37 -1 known silent c.2808 p.P936 0.001 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3 HGNC ENSG00000148498 152 0 0 56 30 34.8837 DIP2C 0 genome.wustl.edu 37 10 410319 410319 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 410319 410319 C T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known silent c.2472 p.R824 0.988 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 142 0 0 88 14 13.7255 ZNF37BP 0 genome.wustl.edu 37 10 43015767 43015767 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 43015767 43015767 C T SNP ZNF37BP ENST00000452075 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF37BP HGNC ENSG00000234420 36 0 0 22 6 21.4286 ALOX5 0 genome.wustl.edu 37 10 45891350 45891350 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 45891350 45891350 C T SNP ALOX5 ENST00000374391 human ensembl 74_37 +1 known missense c.397 p.R133C 0.998 superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C,pfscan_PLAT/LH2_dom - no_errors ALOX5 HGNC ENSG00000012779 113 0 0 57 18 24 FAM35BP 0 genome.wustl.edu 37 10 46918591 46918591 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 46918591 46918591 C T SNP FAM35BP ENST00000475914 human ensembl 74_37 +1 known rna NULL NULL 0.939 - - - no_errors FAM35BP HGNC ENSG00000165874 28 0 0 15 6 28.5714 GDF2 0 genome.wustl.edu 37 10 48413624 48413624 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 48413624 48413624 T C SNP GDF2 ENST00000249598 human ensembl 74_37 -1 known missense c.1244 p.K415R 1.000 pfam_TGF-b_C,smart_TGF-b_C pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 39 0 0 23 16 41.0256 FAM25C 0 genome.wustl.edu 37 10 49199766 49199766 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 49199766 49199766 C T SNP FAM25C ENST00000479781 human ensembl 74_37 -1 known rna NULL NULL 0.040 - - - no_errors FAM25C HGNC ENSG00000188279 36 0 0 9 11 55 FRMPD2 0 genome.wustl.edu 37 10 49450347 49450347 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 49450347 49450347 C T SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known missense c.424 p.E142K 0.995 superfamily_Kinase-like_dom,smart_KIND pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 198 0 0 95 53 35.8108 LRRC18 0 genome.wustl.edu 37 10 50121515 50121515 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 50121515 50121515 G A SNP LRRC18 ENST00000374160 human ensembl 74_37 -1 known missense c.686 p.T229M 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC18 HGNC ENSG00000165383 310 1 0.321543 172 87 33.5907 C10orf71 0 genome.wustl.edu 37 10 50531160 50531160 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 50531160 50531160 T C SNP C10orf71 ENST00000374144 human ensembl 74_37 +1 known silent c.570 p.S190 0.999 NULL NULL - no_errors C10orf71 HGNC ENSG00000177354 84 0 0 45 9 16.6667 PGBD3 0 genome.wustl.edu 37 10 50723435 50723435 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 50723435 50723435 C T SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known missense c.3130 p.E1044K 0.228 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 292 0 0 162 21 11.4754 SLC18A3 0 genome.wustl.edu 37 10 50820315 50820315 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 50820315 50820315 A T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.1529 p.E510V 0.000 NULL pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 137 0 0 94 10 9.61538 OGDHL 0 genome.wustl.edu 37 10 50954898 50954898 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 50954898 50954898 G A SNP OGDHL ENST00000374103 human ensembl 74_37 -1 known silent c.1194 p.D398 0.883 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors OGDHL HGNC ENSG00000197444 98 0 0 59 30 33.7079 AKR1C4 0 genome.wustl.edu 37 10 5254588 5254588 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 5254588 5254588 C T SNP AKR1C4 ENST00000263126 human ensembl 74_37 +1 known missense c.580 p.H194Y 1.000 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1C4 HGNC ENSG00000198610 82 0 0 63 6 8.69565 MBL2 0 genome.wustl.edu 37 10 54527904 54527904 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 54527904 54527904 G A SNP MBL2 ENST00000373968 human ensembl 74_37 -1 known missense c.740 p.P247L 0.277 superfamily_C-type_lectin_fold pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors MBL2 HGNC ENSG00000165471 395 1 0.252525 200 91 31.2715 FAM208B 0 genome.wustl.edu 37 10 5781988 5781988 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 5781988 5781988 A G SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.1855 p.S619G 0.000 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 212 0 0 94 38 28.7879 FAM208B 0 genome.wustl.edu 37 10 5788345 5788345 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 5788345 5788345 G A SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known silent c.2961 p.Q987 0.057 pfam_DUF3715 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 143 1 0.694444 56 45 44.5545 FAM208B 0 genome.wustl.edu 37 10 5788629 5788629 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 5788629 5788629 T C SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.3245 p.L1082S 0.866 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 170 0 0 126 7 5.26316 ANKRD16 0 genome.wustl.edu 37 10 5925938 5925938 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 5925938 5925938 T C SNP ANKRD16 ENST00000380092 human ensembl 74_37 -1 known silent c.681 p.E227 0.014 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD16 HGNC ENSG00000134461 69 0 0 48 3 5.88235 FBXO18 0 genome.wustl.edu 37 10 5963252 5963252 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 5963252 5963252 T C SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known missense c.2285 p.V762A 1.000 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 237 0 0 133 55 29.2553 IPMK 0 genome.wustl.edu 37 10 59986902 59986902 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 59986902 59986902 T C SNP IPMK ENST00000373935 human ensembl 74_37 -1 known splice_site c.277-2 e3-2 1.000 - - - no_errors IPMK HGNC ENSG00000151151 78 0 0 43 23 34.8485 CCDC6 0 genome.wustl.edu 37 10 61564176 61564176 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 61564176 61564176 A G SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known splice_site c.1105+2 e7+2 1.000 - - - no_errors CCDC6 HGNC ENSG00000108091 131 0 0 53 29 35.3659 ANK3 0 genome.wustl.edu 37 10 61815518 61815518 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 61815518 61815518 A G SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.12963 p.C4321 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 543 1 0.183824 353 49 12.1891 ANK3 0 genome.wustl.edu 37 10 61835896 61835896 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 61835896 61835896 T C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.4743 p.I1581M 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 329 0 0 214 43 16.7315 PFKFB3 0 genome.wustl.edu 37 10 6257276 6257276 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 6257276 6257276 C T SNP PFKFB3 ENST00000540253 human ensembl 74_37 +1 known missense c.337 p.R113W 1.000 pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,pirsf_Bifunct_6PFK/fruc_bisP_Ptase pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 62 0 0 19 14 42.4242 ZNF365 0 genome.wustl.edu 37 10 64414648 64414648 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 64414648 64414648 G A SNP ZNF365 ENST00000395251 human ensembl 74_37 +1 known silent c.84 p.L28 0.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 237 0 0 111 52 31.9018 EGR2 0 genome.wustl.edu 37 10 64573060 64573060 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 64573060 64573060 G A SNP EGR2 ENST00000242480 human ensembl 74_37 -1 known silent c.1338 p.G446 0.480 NULL pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR2 HGNC ENSG00000122877 139 1 0.714286 66 39 37.1429 JMJD1C 0 genome.wustl.edu 37 10 64966934 64966934 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 64966934 64966934 C T SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.4495 p.A1499T 0.969 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 219 0 0 95 46 32.6241 JMJD1C 0 genome.wustl.edu 37 10 65140188 65140188 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 65140188 65140188 A G SNP JMJD1C ENST00000399262 human ensembl 74_37 -1 known missense c.223 p.Y75H 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors JMJD1C HGNC ENSG00000171988 112 0 0 85 5 5.55556 DNA2 0 genome.wustl.edu 37 10 70231557 70231557 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 70231557 70231557 G T SNP DNA2 ENST00000399180 human ensembl 74_37 -1 known missense c.323 p.P108Q 0.002 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 46 0 0 20 13 39.3939 TET1 0 genome.wustl.edu 37 10 70406352 70406352 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 70406352 70406352 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known missense c.3866 p.T1289M 0.006 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 152 1 0.653595 95 39 29.1045 STOX1 0 genome.wustl.edu 37 10 70644585 70644585 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 70644585 70644585 C T SNP STOX1 ENST00000298596 human ensembl 74_37 +1 known nonsense c.1033 p.R345* 1.000 NULL pfam_Storkhead-box_winged-helix - no_errors STOX1 HGNC ENSG00000165730 175 1 0.568182 108 55 33.7423 HKDC1 0 genome.wustl.edu 37 10 71018574 71018574 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 71018574 71018574 T C SNP HKDC1 ENST00000354624 human ensembl 74_37 +1 known missense c.2075 p.I692T 0.995 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HKDC1 HGNC ENSG00000156510 138 0 0 101 6 5.60748 COL13A1 0 genome.wustl.edu 37 10 71562400 71562400 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 71562400 71562400 G A SNP COL13A1 ENST00000356340 human ensembl 74_37 +1 known missense c.221 p.R74H 1.000 NULL pfam_Collagen - no_errors COL13A1 HGNC ENSG00000197467 269 0 0 144 46 24.2105 SGPL1 0 genome.wustl.edu 37 10 72628142 72628142 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 72628142 72628142 A G SNP SGPL1 ENST00000373202 human ensembl 74_37 +1 known missense c.656 p.K219R 1.000 pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors SGPL1 HGNC ENSG00000166224 223 0 0 149 20 11.8343 CDH23 0 genome.wustl.edu 37 10 73464824 73464824 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 73464824 73464824 C T SNP CDH23 ENST00000224721 human ensembl 74_37 +1 putative missense c.2905 p.R969W 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 85 0 0 50 26 34.2105 CAMK2G 0 genome.wustl.edu 37 10 75576611 75576611 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 75576611 75576611 T C SNP CAMK2G ENST00000477205 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors CAMK2G HGNC ENSG00000148660 35 0 0 14 4 22.2222 CAMK2G 0 genome.wustl.edu 37 10 75609032 75609032 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 75609032 75609032 T C SNP CAMK2G ENST00000423381 human ensembl 74_37 -1 known missense c.401 p.H134R 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_Ca/CaM-dep_prot_kinase-assoc,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMK2G HGNC ENSG00000148660 72 0 0 36 10 21.7391 AP3M1 0 genome.wustl.edu 37 10 75897994 75897994 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 75897994 75897994 G A SNP AP3M1 ENST00000355264 human ensembl 74_37 -1 known silent c.144 p.V48 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_Clathrin_mu 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 224 0 0 146 10 6.41026 KAT6B 0 genome.wustl.edu 37 10 76789593 76789593 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 76789593 76789593 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known missense c.5011 p.G1671S 1.000 NULL 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 181 0 0 80 38 32.2034 DUPD1 0 genome.wustl.edu 37 10 76797754 76797754 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 76797754 76797754 A G SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known missense c.503 p.M168T 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 106 0 0 83 5 5.68182 DUPD1 0 genome.wustl.edu 37 10 76818210 76818210 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 76818210 76818210 C T SNP DUPD1 ENST00000338487 human ensembl 74_37 -1 known silent c.63 p.S21 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUPD1 HGNC ENSG00000188716 133 0 0 70 38 35.1852 DUSP13 0 genome.wustl.edu 37 10 76861702 76861702 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 76861702 76861702 G A SNP DUSP13 ENST00000308475 human ensembl 74_37 -1 known missense c.167 p.A56V 0.968 NULL NULL - no_errors DUSP13 HGNC ENSG00000079393 232 0 0 121 50 29.2398 POLR3A 0 genome.wustl.edu 37 10 79745739 79745739 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 79745739 79745739 C T SNP POLR3A ENST00000372371 human ensembl 74_37 -1 known missense c.2993 p.R998H 0.572 pfam_RNA_pol_Rpb1_5 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 168 0 0 85 37 30.3279 ZMIZ1 0 genome.wustl.edu 37 10 81050715 81050715 + Splice_Site SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 81050715 81050715 G T SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known splice_site c.541-1 e6-1 1.000 - - - no_errors ZMIZ1 HGNC ENSG00000108175 146 0 0 63 39 38.2353 ZMIZ1 0 genome.wustl.edu 37 10 81058191 81058191 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 81058191 81058191 A G SNP ZMIZ1 ENST00000334512 human ensembl 74_37 +1 known missense c.1520 p.Y507C 1.000 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ1 HGNC ENSG00000108175 486 3 0.613497 256 118 31.5508 RGR 0 genome.wustl.edu 37 10 86007506 86007506 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 86007506 86007506 A G SNP RGR ENST00000469446 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RGR HGNC ENSG00000148604 138 0 0 67 22 24.7191 BMPR1A 0 genome.wustl.edu 37 10 88677075 88677075 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 88677075 88677075 A G SNP BMPR1A ENST00000372037 human ensembl 74_37 +1 known missense c.860 p.N287S 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_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR1A HGNC ENSG00000107779 59 0 0 38 5 11.6279 ENSG00000271880 0 genome.wustl.edu 37 10 88768861 88768861 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 88768861 88768861 G A SNP ENSG00000271880 ENST00000433214 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors RP11-96C23.5 Clone_based_vega_gene ENSG00000271880 374 0 0 196 110 35.9477 LARP4B 0 genome.wustl.edu 37 10 888953 888953 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 888953 888953 C T SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known missense c.565 p.V189M 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 81 0 0 40 4 9.09091 MINPP1 0 genome.wustl.edu 37 10 89265036 89265036 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 89265036 89265036 A G SNP MINPP1 ENST00000371996 human ensembl 74_37 +1 known missense c.364 p.T122A 0.012 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 41 0 0 12 10 45.4545 RNLS 0 genome.wustl.edu 37 10 90122340 90122340 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 90122340 90122340 G A SNP RNLS ENST00000331772 human ensembl 74_37 -1 known silent c.669 p.F223 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors RNLS HGNC ENSG00000184719 182 0 0 87 37 29.8387 LIPK 0 genome.wustl.edu 37 10 90492016 90492016 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 90492016 90492016 C T SNP LIPK ENST00000404190 human ensembl 74_37 +1 known silent c.504 p.Y168 0.818 pfam_AB_hydrolase_1 pfam_AB_hydrolase_lipase,pfam_AB_hydrolase_1 - no_errors LIPK HGNC ENSG00000204021 232 0 0 106 58 35.3659 IFIT2 0 genome.wustl.edu 37 10 91066703 91066703 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 91066703 91066703 T C SNP IFIT2 ENST00000371826 human ensembl 74_37 +1 known silent c.990 p.N330 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT2 HGNC ENSG00000119922 112 0 0 82 6 6.81818 HTR7 0 genome.wustl.edu 37 10 92617294 92617294 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 92617294 92617294 C T SNP HTR7 ENST00000336152 human ensembl 74_37 -1 known silent c.135 p.A45 0.851 prints_5HT_7_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT_7_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors HTR7 HGNC ENSG00000148680 43 0 0 12 7 36.8421 TNKS2 0 genome.wustl.edu 37 10 93609348 93609348 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 93609348 93609348 A G SNP TNKS2 ENST00000371627 human ensembl 74_37 +1 known silent c.2691 p.E897 1.000 pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM 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 141 0 0 95 7 6.86275 IDE 0 genome.wustl.edu 37 10 94268556 94268556 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 94268556 94268556 G T SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.989 p.P330H 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 315 0 0 183 13 6.63265 MYOF 0 genome.wustl.edu 37 10 95121229 95121229 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 95121229 95121229 T C SNP MYOF ENST00000359263 human ensembl 74_37 -1 known missense c.2954 p.N985S 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors MYOF HGNC ENSG00000138119 186 0 0 148 11 6.91824 PLCE1 0 genome.wustl.edu 37 10 95790955 95790955 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 95790955 95790955 C T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.152 p.S51F 0.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 129 0 0 79 39 33.0508 PLCE1 0 genome.wustl.edu 37 10 96039591 96039591 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 96039591 96039591 A G SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.4718 p.N1573S 0.997 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 117 0 0 67 4 5.6338 NOC3L 0 genome.wustl.edu 37 10 96109868 96109868 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 96109868 96109868 A G SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known splice_site c.1128+2 e9+2 0.993 - - - no_errors NOC3L HGNC ENSG00000173145 207 0 0 139 14 9.15033 HELLS 0 genome.wustl.edu 37 10 96350527 96350527 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 96350527 96350527 A G SNP HELLS ENST00000371332 human ensembl 74_37 +1 known silent c.1899 p.E633 0.784 superfamily_P-loop_NTPase 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 48 30 38.4615 TLL2 0 genome.wustl.edu 37 10 98192586 98192586 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 98192586 98192586 G A SNP TLL2 ENST00000357947 human ensembl 74_37 -1 known silent c.498 p.Y166 0.831 pirsf_BMP_1/tolloid-like,pfam_Peptidase_M12A,smart_Peptidase_Metallo pirsf_BMP_1/tolloid-like,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,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors TLL2 HGNC ENSG00000095587 132 0 0 60 31 34.0659 CRTAC1 0 genome.wustl.edu 37 10 99683046 99683046 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 99683046 99683046 C T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known missense c.533 p.R178H 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 88 0 0 50 21 29.5775 KIAA1377 0 genome.wustl.edu 37 11 101834511 101834511 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 101834511 101834511 A T SNP KIAA1377 ENST00000263468 human ensembl 74_37 +1 known missense c.2745 p.E915D 0.992 NULL NULL - no_errors KIAA1377 HGNC ENSG00000110318 216 1 0.460829 108 46 29.8701 PDGFD 0 genome.wustl.edu 37 11 103866871 103866871 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 103866871 103866871 C T SNP PDGFD ENST00000393158 human ensembl 74_37 -1 known silent c.432 p.T144 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_PDGF/VEGF_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFD HGNC ENSG00000170962 147 0 0 64 31 32.6316 DDI1 0 genome.wustl.edu 37 11 103907980 103907980 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 103907980 103907980 G A SNP DDI1 ENST00000302259 human ensembl 74_37 +1 known missense c.430 p.A144T 0.075 NULL pfam_Peptidase_aspartic_DDI1-type,pfam_Ubiquitin_dom,pfam_RVP_2,pfam_Pept_A2A_retrovirus_sg,superfamily_Peptidase_aspartic_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors DDI1 HGNC ENSG00000170967 115 0 0 47 22 31.8841 LOC643733 0 genome.wustl.edu 37 11 104778203 104778203 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 104778203 104778203 A G SNP LOC643733 ENST00000531091 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors RP11-693N9.2 Clone_based_vega_gene ENSG00000235505 13 0 0 15 5 25 CASP4 0 genome.wustl.edu 37 11 104820474 104820474 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 104820474 104820474 T C SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known missense c.577 p.T193A 0.003 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP4 HGNC ENSG00000196954 138 0 0 72 12 14.2857 ALKBH8 0 genome.wustl.edu 37 11 107403026 107403026 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 107403026 107403026 C A SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known missense c.887 p.G296V 1.000 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 57 0 0 32 9 21.9512 ALKBH8 0 genome.wustl.edu 37 11 107403094 107403094 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 107403094 107403094 C T SNP ALKBH8 ENST00000417449 human ensembl 74_37 -1 known silent c.819 p.V273 0.993 pfam_Oxoglu/Fe-dep_dioxygenase pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel - no_errors ALKBH8 HGNC ENSG00000137760 94 0 0 64 5 7.24638 CTR9 0 genome.wustl.edu 37 11 10785222 10785222 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 10785222 10785222 T C SNP CTR9 ENST00000361367 human ensembl 74_37 +1 known silent c.990 p.Y330 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CTR9 HGNC ENSG00000198730 121 0 0 92 5 5.15464 NPAT 0 genome.wustl.edu 37 11 108044308 108044308 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 108044308 108044308 G A SNP NPAT ENST00000278612 human ensembl 74_37 -1 known missense c.1403 p.A468V 0.430 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors NPAT HGNC ENSG00000149308 383 0 0 218 76 25.8503 ATM 0 genome.wustl.edu 37 11 108098363 108098363 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 108098363 108098363 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.12 p.V4 1.000 NULL pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 129 0 0 80 30 27.2727 ATM 0 genome.wustl.edu 37 11 108168081 108168081 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 108168081 108168081 A G SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.4977 p.I1659M 0.998 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 117 0 0 66 14 17.5 MUC2 0 genome.wustl.edu 37 11 1096499 1096499 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 1096499 1096499 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.6524 p.R2175H 0.916 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,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 MUC2 HGNC ENSG00000198788 103 1 0.961538 72 6 7.69231 POU2AF1 0 genome.wustl.edu 37 11 111228205 111228205 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 111228205 111228205 T C SNP POU2AF1 ENST00000393067 human ensembl 74_37 -1 known missense c.421 p.T141A 1.000 pfam_PD-C2-AF1 pfam_PD-C2-AF1 - no_errors POU2AF1 HGNC ENSG00000110777 99 0 0 66 4 5.71429 C11orf88 0 genome.wustl.edu 37 11 111385697 111385697 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 111385697 111385697 G A SNP C11orf88 ENST00000529167 human ensembl 74_37 +1 known missense c.188 p.R63H 0.995 NULL NULL - no_errors C11orf88 HGNC ENSG00000183644 110 0 0 54 24 30.7692 SIK2 0 genome.wustl.edu 37 11 111558769 111558769 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 111558769 111558769 C T SNP SIK2 ENST00000304987 human ensembl 74_37 +1 known nonsense c.361 p.R121* 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_Ser/Thr_kinase_SIK1/2,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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK2 HGNC ENSG00000170145 137 0 0 76 33 30.2752 PPP2R1B 0 genome.wustl.edu 37 11 111618736 111618736 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 111618736 111618736 A G SNP PPP2R1B ENST00000311129 human ensembl 74_37 -1 known silent c.1341 p.G447 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1B HGNC ENSG00000137713 66 0 0 49 16 24.6154 DRD2 0 genome.wustl.edu 37 11 113295190 113295190 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 113295190 113295190 C T SNP DRD2 ENST00000355319 human ensembl 74_37 -1 known missense c.184 p.E62K 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Dopamine_D2_rcpt,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt - no_errors DRD2 HGNC ENSG00000149295 141 0 0 99 6 5.71429 CADM1 0 genome.wustl.edu 37 11 115110994 115110994 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 115110994 115110994 G A SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.271 p.P91S 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 65 0 0 36 17 32.0755 TAGLN 0 genome.wustl.edu 37 11 117073840 117073840 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 117073840 117073840 G A SNP TAGLN ENST00000392951 human ensembl 74_37 +1 known silent c.111 p.Q37 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_Calponin_repeat,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin - no_errors TAGLN HGNC ENSG00000149591 67 0 0 27 14 34.1463 PCSK7 0 genome.wustl.edu 37 11 117090382 117090382 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 117090382 117090382 T C SNP PCSK7 ENST00000320934 human ensembl 74_37 -1 known missense c.1248 p.I416M 0.565 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK7 HGNC ENSG00000160613 106 0 0 57 24 29.6296 CEP164 0 genome.wustl.edu 37 11 117266307 117266307 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 117266307 117266307 G A SNP CEP164 ENST00000278935 human ensembl 74_37 +1 known silent c.2958 p.E986 1.000 NULL superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors CEP164 HGNC ENSG00000110274 71 0 0 43 10 18.8679 BCL9L 0 genome.wustl.edu 37 11 118770905 118770905 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 118770905 118770905 T C SNP BCL9L ENST00000334801 human ensembl 74_37 -1 known missense c.3127 p.T1043A 0.871 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 60 0 0 22 10 31.25 HYOU1 0 genome.wustl.edu 37 11 118925262 118925262 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 118925262 118925262 C T SNP HYOU1 ENST00000404233 human ensembl 74_37 -1 known missense c.622 p.A208T 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HYOU1 HGNC ENSG00000149428 148 0 0 88 37 29.6 DPAGT1 0 genome.wustl.edu 37 11 118971584 118971584 + Nonstop_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 118971584 118971584 A G SNP DPAGT1 ENST00000414373 human ensembl 74_37 -1 known nonstop c.286 p.*96R 0.000 NULL NULL - no_errors DPAGT1 HGNC ENSG00000172269 115 0 0 50 33 39.759 HINFP 0 genome.wustl.edu 37 11 119003653 119003653 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 119003653 119003653 T C SNP HINFP ENST00000350777 human ensembl 74_37 +1 known missense c.955 p.C319R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HINFP HGNC ENSG00000172273 201 0 0 145 13 8.22785 POU2F3 0 genome.wustl.edu 37 11 120175748 120175748 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 120175748 120175748 C T SNP POU2F3 ENST00000260264 human ensembl 74_37 +1 known missense c.460 p.H154Y 0.971 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F3 HGNC ENSG00000137709 154 0 0 127 9 6.61765 ARHGEF12 0 genome.wustl.edu 37 11 120343776 120343776 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 120343776 120343776 G A SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known silent c.2916 p.Q972 1.000 superfamily_DH-domain pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 392 1 0.254453 266 19 6.66667 TECTA 0 genome.wustl.edu 37 11 120973430 120973430 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 120973430 120973430 A G SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.56 p.Q19R 0.922 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 345 1 0.289017 217 20 8.43882 MICAL2 0 genome.wustl.edu 37 11 12237834 12237834 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 12237834 12237834 C T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known nonsense c.916 p.Q306* 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 169 0 0 140 10 6.66667 C11orf63 0 genome.wustl.edu 37 11 122774696 122774696 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 122774696 122774696 G T SNP C11orf63 ENST00000227349 human ensembl 74_37 +1 known missense c.408 p.K136N 0.293 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 419 2 0.475059 219 90 29.1262 HSPA8 0 genome.wustl.edu 37 11 122931470 122931470 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 122931470 122931470 G C SNP HSPA8 ENST00000534624 human ensembl 74_37 -1 known missense c.242 p.A81G 0.980 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA8 HGNC ENSG00000109971 160 0 0 68 22 24.4444 OR6M1 0 genome.wustl.edu 37 11 123676424 123676424 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 123676424 123676424 T C SNP OR6M1 ENST00000309154 human ensembl 74_37 -1 known missense c.634 p.T212A 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6M1 HGNC ENSG00000196099 79 0 0 52 7 11.8644 OR4D5 0 genome.wustl.edu 37 11 123810556 123810556 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 123810556 123810556 C T SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known missense c.233 p.A78V 0.017 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 278 0 0 124 54 30.3371 OR10S1 0 genome.wustl.edu 37 11 123847770 123847770 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 123847770 123847770 T C SNP OR10S1 ENST00000531945 human ensembl 74_37 -1 known missense c.629 p.E210G 0.842 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10S1 HGNC ENSG00000196248 124 1 0.8 49 23 31.9444 OR8D1 0 genome.wustl.edu 37 11 124180293 124180293 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 124180293 124180293 C T SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.370 p.V124I 0.047 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 OR8D1 HGNC ENSG00000196341 54 0 0 24 12 33.3333 PANX3 0 genome.wustl.edu 37 11 124487357 124487357 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 124487357 124487357 C T SNP PANX3 ENST00000284288 human ensembl 74_37 +1 known missense c.512 p.P171L 1.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX3 HGNC ENSG00000154143 154 0 0 87 34 28.0992 ESAM 0 genome.wustl.edu 37 11 124624154 124624154 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 124624154 124624154 G A SNP ESAM ENST00000278927 human ensembl 74_37 -1 known silent c.813 p.Y271 0.754 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors ESAM HGNC ENSG00000149564 71 0 0 35 22 38.5965 RPUSD4 0 genome.wustl.edu 37 11 126081527 126081527 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 126081527 126081527 C A SNP RPUSD4 ENST00000298317 human ensembl 74_37 -1 known missense c.7 p.A3S 0.918 NULL pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom - no_errors RPUSD4 HGNC ENSG00000165526 179 1 0.555556 75 32 29.9065 KIRREL3 0 genome.wustl.edu 37 11 126396434 126396434 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 126396434 126396434 T C SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.282 p.S94 0.997 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 41 0 0 18 11 37.931 ETS1 0 genome.wustl.edu 37 11 128350194 128350194 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 128350194 128350194 G T SNP ETS1 ENST00000392668 human ensembl 74_37 -1 known missense c.1015 p.L339M 1.000 pirsf_Transform_prot_C-ets pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pirsf_Transform_prot_C-ets,pfscan_Ets_dom,prints_Ets_dom - no_errors ETS1 HGNC ENSG00000134954 159 1 0.625 65 26 28.5714 TOLLIP 0 genome.wustl.edu 37 11 1298340 1298340 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 1298340 1298340 C T SNP TOLLIP ENST00000317204 human ensembl 74_37 -1 known missense c.754 p.V252M 1.000 pfam_CUE,superfamily_UBA-like,smart_CUE,pfscan_CUE pfam_CUE,pfam_C2_dom,superfamily_C2_dom,superfamily_UBA-like,smart_C2_dom,smart_CUE,pfscan_CUE - no_errors TOLLIP HGNC ENSG00000078902 164 0 0 77 36 31.8584 ADAMTS8 0 genome.wustl.edu 37 11 130281492 130281492 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 130281492 130281492 C T SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.1570 p.V524M 0.380 superfamily_Thrombospondin_1_rpt 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-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 101 0 0 35 17 32.6923 IGSF9B 0 genome.wustl.edu 37 11 133790518 133790518 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 133790518 133790518 C T SNP IGSF9B ENST00000321016 human ensembl 74_37 -1 known silent c.3102 p.G1034 0.629 NULL 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 162 0 0 93 45 32.6087 CALCA 0 genome.wustl.edu 37 11 14990515 14990515 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 14990515 14990515 C T SNP CALCA ENST00000331587 human ensembl 74_37 -1 known missense c.256 p.G86S 0.992 pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin - no_errors CALCA HGNC ENSG00000110680 160 0 0 87 40 31.4961 INSC 0 genome.wustl.edu 37 11 15212353 15212353 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 15212353 15212353 T C SNP INSC ENST00000379554 human ensembl 74_37 +1 known missense c.827 p.I276T 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,smart_Armadillo - no_errors INSC HGNC ENSG00000188487 289 0 0 179 43 19.3694 SOX6 0 genome.wustl.edu 37 11 16077437 16077437 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 16077437 16077437 G A SNP SOX6 ENST00000352083 human ensembl 74_37 -1 known missense c.1112 p.A371V 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX6 HGNC ENSG00000110693 124 0 0 57 32 35.9551 PLEKHA7 0 genome.wustl.edu 37 11 16816142 16816142 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 16816142 16816142 G A SNP PLEKHA7 ENST00000448080 human ensembl 74_37 -1 known nonsense c.2638 p.R880* 0.783 NULL pfam_Pleckstrin_homology,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_WW_dom - no_errors PLEKHA7 HGNC ENSG00000166689 226 0 0 109 52 32.2981 PIK3C2A 0 genome.wustl.edu 37 11 17150966 17150966 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 17150966 17150966 A G SNP PIK3C2A ENST00000265970 human ensembl 74_37 -1 known silent c.2280 p.L760 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom,smart_PI3K_C2_dom,smart_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 136 0 0 80 30 27.2727 KCNJ11 0 genome.wustl.edu 37 11 17408964 17408964 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 17408964 17408964 G A SNP KCNJ11 ENST00000339994 human ensembl 74_37 -1 known silent c.675 p.S225 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir6.2 - no_errors KCNJ11 HGNC ENSG00000187486 107 0 0 84 9 9.67742 ABCC8 0 genome.wustl.edu 37 11 17428579 17428579 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 17428579 17428579 G A SNP ABCC8 ENST00000527905 human ensembl 74_37 -1 known missense c.2888 p.P963L 0.000 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_Surea_rcpt-1 - no_errors ABCC8 HGNC ENSG00000006071 148 0 0 81 40 33.0579 USH1C 0 genome.wustl.edu 37 11 17530964 17530964 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 17530964 17530964 T C SNP USH1C ENST00000005226 human ensembl 74_37 -1 known missense c.1952 p.N651S 0.974 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 161 0 0 101 6 5.60748 KCNC1 0 genome.wustl.edu 37 11 17793376 17793376 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 17793376 17793376 T C SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known silent c.735 p.L245 0.998 NULL 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 256 0 0 169 20 10.582 KCNC1 0 genome.wustl.edu 37 11 17793706 17793706 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 17793706 17793706 C T SNP KCNC1 ENST00000265969 human ensembl 74_37 +1 known silent c.1065 p.G355 0.569 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl,prints_K_chnl_volt-dep_Kv 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_Kv3,prints_K_chnl_volt-dep_Kv3.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9 - no_errors KCNC1 HGNC ENSG00000129159 66 0 0 25 13 34.2105 MRGPRX4 0 genome.wustl.edu 37 11 18195607 18195607 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 18195607 18195607 C T SNP MRGPRX4 ENST00000314254 human ensembl 74_37 +1 known silent c.804 p.N268 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX4 HGNC ENSG00000179817 231 0 0 104 45 30.2013 TNNI2 0 genome.wustl.edu 37 11 1861658 1861658 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 1861658 1861658 G A SNP TNNI2 ENST00000252898 human ensembl 74_37 +1 known missense c.41 p.R14H 1.000 NULL pfam_Troponin - no_errors TNNI2 HGNC ENSG00000130598 39 0 0 16 7 30.4348 NAV2 0 genome.wustl.edu 37 11 19954827 19954827 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 19954827 19954827 C T SNP NAV2 ENST00000396087 human ensembl 74_37 +1 known missense c.1106 p.S369L 1.000 NULL pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 497 0 0 234 108 31.5789 DBX1 0 genome.wustl.edu 37 11 20177851 20177851 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 20177851 20177851 G A SNP DBX1 ENST00000227256 human ensembl 74_37 -1 known missense c.1058 p.A353V 0.976 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors DBX1 HGNC ENSG00000109851 178 0 0 71 84 54.1935 ANO5 0 genome.wustl.edu 37 11 22284591 22284591 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 22284591 22284591 T C SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known splice_site c.1898+2 e17+2 1.000 - - - no_errors ANO5 HGNC ENSG00000171714 105 0 0 76 13 14.6067 ANO5 0 genome.wustl.edu 37 11 22294393 22294393 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 22294393 22294393 T C SNP ANO5 ENST00000324559 human ensembl 74_37 +1 known missense c.2093 p.L698P 0.998 pfam_Anoctamin pfam_Anoctamin - no_errors ANO5 HGNC ENSG00000171714 157 0 0 103 13 11.2069 TSSC4 0 genome.wustl.edu 37 11 2424406 2424406 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 2424406 2424406 C T SNP TSSC4 ENST00000333256 human ensembl 74_37 +1 known silent c.543 p.T181 0.012 NULL NULL - no_errors TSSC4 HGNC ENSG00000184281 59 0 0 31 23 42.5926 TRPM5 0 genome.wustl.edu 37 11 2427344 2427344 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 2427344 2427344 G A SNP TRPM5 ENST00000533060 human ensembl 74_37 -1 novel silent c.3253 p.L1085 0.000 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors TRPM5 HGNC ENSG00000070985 78 0 0 49 4 7.54717 KIF18A 0 genome.wustl.edu 37 11 28104461 28104461 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 28104461 28104461 T C SNP KIF18A ENST00000263181 human ensembl 74_37 -1 known missense c.1204 p.N402D 0.391 superfamily_P-loop_NTPase pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18A HGNC ENSG00000121621 84 0 0 46 14 23.3333 MPPED2 0 genome.wustl.edu 37 11 30435828 30435828 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 30435828 30435828 G A SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.713 p.T238M 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 94 0 0 53 21 28.3784 MPPED2 0 genome.wustl.edu 37 11 30517060 30517060 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 30517060 30517060 G A SNP MPPED2 ENST00000358117 human ensembl 74_37 -1 known missense c.319 p.P107S 1.000 pfam_PEstase_dom pfam_PEstase_dom - no_errors MPPED2 HGNC ENSG00000066382 91 0 0 45 21 31.8182 ELP4 0 genome.wustl.edu 37 11 31616422 31616422 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 31616422 31616422 C T SNP ELP4 ENST00000395934 human ensembl 74_37 +1 known missense c.487 p.R163C 1.000 pfam_Elongator_complex_protein_4 pfam_Elongator_complex_protein_4,superfamily_P-loop_NTPase - no_errors ELP4 HGNC ENSG00000109911 57 0 0 34 9 20.9302 CSTF3 0 genome.wustl.edu 37 11 33117933 33117933 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 33117933 33117933 T A SNP CSTF3 ENST00000323959 human ensembl 74_37 -1 known missense c.1294 p.I432F 1.000 pfam_Suf,smart_HAT pfam_Suf,smart_HAT - no_errors CSTF3 HGNC ENSG00000176102 148 1 0.671141 133 9 6.33803 HIPK3 0 genome.wustl.edu 37 11 33369426 33369426 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 33369426 33369426 A T SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.2173 p.N725Y 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK3 HGNC ENSG00000110422 133 0 0 59 28 32.1839 NAT10 0 genome.wustl.edu 37 11 34130297 34130297 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 34130297 34130297 A G SNP NAT10 ENST00000257829 human ensembl 74_37 +1 known missense c.117 p.I39M 0.650 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,superfamily_P-loop_NTPase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 129 0 0 89 11 11 ABTB2 0 genome.wustl.edu 37 11 34194790 34194790 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 34194790 34194790 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.1309 p.R437C 1.000 superfamily_Histone-fold pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 38 0 0 23 9 28.125 TSSC2 0 genome.wustl.edu 37 11 3424867 3424867 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 3424867 3424867 G A SNP TSSC2 ENST00000533775 human ensembl 74_37 +1 known rna NULL NULL 0.845 - - - no_errors TSSC2 HGNC ENSG00000223756 209 0 0 159 10 5.91716 TRIM44 0 genome.wustl.edu 37 11 35685113 35685113 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 35685113 35685113 G A SNP TRIM44 ENST00000299413 human ensembl 74_37 +1 known missense c.454 p.E152K 0.652 NULL pfam_Znf_B-box,smart_Znf_B-box,pfscan_Znf_B-box - no_errors TRIM44 HGNC ENSG00000166326 59 0 0 21 11 34.375 TRIM44 0 genome.wustl.edu 37 11 35827994 35827994 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 35827994 35827994 T C SNP TRIM44 ENST00000532066 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors TRIM44 HGNC ENSG00000166326 139 0 0 67 41 37.963 ALKBH3 0 genome.wustl.edu 37 11 43908177 43908177 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 43908177 43908177 C T SNP ALKBH3 ENST00000302708 human ensembl 74_37 +1 known silent c.240 p.I80 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase - no_errors ALKBH3 HGNC ENSG00000166199 135 0 0 88 10 10.2041 EXT2 0 genome.wustl.edu 37 11 44255775 44255775 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 44255775 44255775 G A SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known silent c.2016 p.T672 0.952 pfam_HexNAc_Trfase_a pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 84 0 0 30 11 26.8293 OR52M1 0 genome.wustl.edu 37 11 4567047 4567047 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 4567047 4567047 G A SNP OR52M1 ENST00000360213 human ensembl 74_37 +1 known silent c.627 p.V209 0.004 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52M1 HGNC ENSG00000197790 373 0 0 201 70 25.8303 GYLTL1B 0 genome.wustl.edu 37 11 45947886 45947886 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 45947886 45947886 G A SNP GYLTL1B ENST00000325468 human ensembl 74_37 +1 known silent c.996 p.A332 0.669 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 202 0 0 98 48 32.8767 TRIM68 0 genome.wustl.edu 37 11 4621976 4621976 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 4621976 4621976 T C SNP TRIM68 ENST00000300747 human ensembl 74_37 -1 known missense c.988 p.T330A 0.618 superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,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,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM68 HGNC ENSG00000167333 80 0 0 61 4 6.15385 DGKZ 0 genome.wustl.edu 37 11 46394198 46394198 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 46394198 46394198 C T SNP DGKZ ENST00000454345 human ensembl 74_37 +1 known missense c.1606 p.R536W 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,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 DGKZ HGNC ENSG00000149091 100 0 0 36 30 45.4545 CKAP5 0 genome.wustl.edu 37 11 46829614 46829614 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 46829614 46829614 G A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.945 p.G315 0.999 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 609 0 0 334 145 30.2714 ARFGAP2 0 genome.wustl.edu 37 11 47198140 47198140 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 47198140 47198140 T C SNP ARFGAP2 ENST00000524782 human ensembl 74_37 -1 known missense c.118 p.T40A 1.000 pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors ARFGAP2 HGNC ENSG00000149182 95 0 0 66 7 9.58904 C1QTNF4 0 genome.wustl.edu 37 11 47612348 47612348 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 47612348 47612348 C T SNP C1QTNF4 ENST00000302514 human ensembl 74_37 -1 known silent c.15 p.L5 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 16 0 0 4 7 63.6364 MTCH2 0 genome.wustl.edu 37 11 47653245 47653245 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 47653245 47653245 C T SNP MTCH2 ENST00000302503 human ensembl 74_37 -1 known missense c.388 p.A130T 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 - no_errors MTCH2 HGNC ENSG00000109919 122 0 0 68 29 29.8969 AGBL2 0 genome.wustl.edu 37 11 47712295 47712295 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 47712295 47712295 T C SNP AGBL2 ENST00000357610 human ensembl 74_37 -1 known missense c.964 p.I322V 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL2 HGNC ENSG00000165923 221 0 0 115 59 33.908 PTPRJ 0 genome.wustl.edu 37 11 48158680 48158680 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 48158680 48158680 T C SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1999 p.S667P 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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 244 0 0 114 66 36.6667 OR4B1 0 genome.wustl.edu 37 11 48238713 48238713 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 48238713 48238713 T C SNP OR4B1 ENST00000309562 human ensembl 74_37 +1 known missense c.352 p.Y118H 0.989 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 OR4B1 HGNC ENSG00000175619 237 0 0 116 38 24.6753 FOLH1 0 genome.wustl.edu 37 11 49204779 49204779 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 49204779 49204779 C T SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.842 p.R281H 0.843 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 112 0 0 85 9 9.57447 FOLH1 0 genome.wustl.edu 37 11 49204790 49204790 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 49204790 49204790 A G SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known silent c.831 p.Y277 1.000 NULL pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 98 0 0 71 12 14.4578 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 55035844 55035844 T C SNP TRIM48 ENST00000417545 human ensembl 74_37 +1 known missense c.574 p.Y192H 0.183 NULL pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM48 HGNC ENSG00000150244 209 1 0.47619 146 23 13.6095 OR4P4 0 genome.wustl.edu 37 11 55406147 55406147 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 55406147 55406147 T G SNP OR4P4 ENST00000314612 human ensembl 74_37 +1 known missense c.314 p.F105C 0.088 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 OR4P4 HGNC ENSG00000181927 130 0 0 101 9 8.18182 OR4C6 0 genome.wustl.edu 37 11 55432731 55432731 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 55432731 55432731 T A SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.89 p.L30H 0.069 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 333 0 0 222 19 7.88382 OR8J3 0 genome.wustl.edu 37 11 55905019 55905019 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 55905019 55905019 A G SNP OR8J3 ENST00000301529 human ensembl 74_37 -1 known missense c.176 p.M59T 1.000 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 OR8J3 HGNC ENSG00000167822 277 1 0.359712 144 56 28 TRIM6-TRIM34 0 genome.wustl.edu 37 11 5624748 5624748 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 5624748 5624748 G A SNP TRIM6-TRIM34 ENST00000354852 human ensembl 74_37 +1 known missense c.290 p.R97Q 0.731 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,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM6-TRIM34 HGNC ENSG00000258588 109 0 0 57 15 20.8333 OR5M10 0 genome.wustl.edu 37 11 56344778 56344778 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 56344778 56344778 A G SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known silent c.420 p.I140 0.002 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 OR5M10 HGNC ENSG00000254834 177 0 0 89 31 25.8333 OR9G4 0 genome.wustl.edu 37 11 56510841 56510841 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 56510841 56510841 A G SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known silent c.447 p.G149 0.000 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 OR9G4 HGNC ENSG00000172457 287 2 0.692042 139 55 28.3505 LRRC55 0 genome.wustl.edu 37 11 56950045 56950045 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 56950045 56950045 G T SNP LRRC55 ENST00000497933 human ensembl 74_37 +1 known missense c.678 p.E226D 0.812 smart_Leu-rich_rpt_typical-subtyp 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 LRRC55 HGNC ENSG00000183908 242 0 0 126 56 30.7692 LRRC55 0 genome.wustl.edu 37 11 56950151 56950151 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 56950151 56950151 A G SNP LRRC55 ENST00000497933 human ensembl 74_37 +1 known missense c.784 p.T262A 0.976 smart_Cys-rich_flank_reg_C 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 LRRC55 HGNC ENSG00000183908 193 1 0.515464 102 33 24.4444 PRG3 0 genome.wustl.edu 37 11 57146978 57146978 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 57146978 57146978 C T SNP PRG3 ENST00000287143 human ensembl 74_37 -1 known missense c.364 p.A122T 0.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG3 HGNC ENSG00000156575 396 0 0 184 90 32.8467 OR52N1 0 genome.wustl.edu 37 11 5809670 5809670 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 5809670 5809670 A G SNP OR52N1 ENST00000317078 human ensembl 74_37 -1 known missense c.377 p.V126A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR52N1 HGNC ENSG00000181001 219 0 0 87 39 30.9524 OR5B12 0 genome.wustl.edu 37 11 58207279 58207279 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 58207279 58207279 T A SNP OR5B12 ENST00000302572 human ensembl 74_37 -1 known missense c.346 p.M116L 0.988 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 OR5B12 HGNC ENSG00000172362 200 0 0 116 52 30.9524 DTX4 0 genome.wustl.edu 37 11 58972212 58972212 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 58972212 58972212 A G SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known missense c.1690 p.T564A 1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 42 0 0 24 6 20 PATL1 0 genome.wustl.edu 37 11 59425112 59425112 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 59425112 59425112 C T SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.512 p.R171Q 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 150 0 0 65 39 37.5 CD6 0 genome.wustl.edu 37 11 60776004 60776004 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 60776004 60776004 A G SNP CD6 ENST00000313421 human ensembl 74_37 +1 known splice_site c.470-2 e4-2 1.000 - - - no_errors CD6 HGNC ENSG00000013725 24 0 0 7 5 41.6667 PHRF1 0 genome.wustl.edu 37 11 608885 608885 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 608885 608885 C T SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.3429 p.H1143 0.004 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 61 0 0 21 14 40 CPSF7 0 genome.wustl.edu 37 11 61179396 61179396 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 61179396 61179396 G A SNP CPSF7 ENST00000340437 human ensembl 74_37 -1 known silent c.1227 p.D409 0.891 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPSF7 HGNC ENSG00000149532 97 0 0 49 19 27.9412 MYRF 0 genome.wustl.edu 37 11 61547022 61547022 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 61547022 61547022 C T SNP MYRF ENST00000278836 human ensembl 74_37 +1 known missense c.2227 p.P743S 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 13 0 0 6 6 50 AHNAK 0 genome.wustl.edu 37 11 62285270 62285270 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 62285270 62285270 T C SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.16619 p.D5540G 0.704 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 449 0 0 238 125 34.4353 EEF1G 0 genome.wustl.edu 37 11 62327791 62327791 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 62327791 62327791 T C SNP EEF1G ENST00000378019 human ensembl 74_37 -1 known silent c.1143 p.E381 1.000 pfam_Transl_elong_EF1_G_con,superfamily_Transl_elong_EF1_G_con,pfscan_Transl_elong_EF1_G_con pfam_Transl_elong_EF1_G_con,pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Transl_elong_EF1_G_con,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,pfscan_Transl_elong_EF1_G_con - no_errors EEF1G HGNC ENSG00000254772 34 0 0 13 9 40.9091 INTS5 0 genome.wustl.edu 37 11 62416494 62416494 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 62416494 62416494 C T SNP INTS5 ENST00000330574 human ensembl 74_37 -1 known missense c.1058 p.G353D 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 200 0 0 156 16 9.30233 SLC22A10 0 genome.wustl.edu 37 11 63066991 63066991 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 63066991 63066991 A G SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known silent c.960 p.V320 0.009 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 84 0 0 53 4 7.01754 ATL3 0 genome.wustl.edu 37 11 63426718 63426718 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 63426718 63426718 G A SNP ATL3 ENST00000332645 human ensembl 74_37 -1 known missense c.209 p.A70V 1.000 superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors ATL3 HGNC ENSG00000184743 106 0 0 82 5 5.74713 DNAJC4 0 genome.wustl.edu 37 11 63999943 63999943 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 63999943 63999943 C T SNP DNAJC4 ENST00000321685 human ensembl 74_37 +1 known silent c.222 p.S74 0.997 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC4 HGNC ENSG00000110011 91 0 0 55 5 8.33333 GPR137 0 genome.wustl.edu 37 11 64056707 64056707 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64056707 64056707 C A SNP GPR137 ENST00000313074 human ensembl 74_37 +1 known missense c.1124 p.P375H 0.032 NULL NULL - no_errors GPR137 HGNC ENSG00000173264 278 0 0 154 73 32.1586 SMPD1 0 genome.wustl.edu 37 11 6413196 6413196 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 6413196 6413196 G A SNP SMPD1 ENST00000342245 human ensembl 74_37 +1 known missense c.901 p.V301I 0.652 pfam_PEstase_dom,pirsf_Sphingomy_PDE pfam_PEstase_dom,superfamily_Saposin-like,smart_SaposinB,pirsf_Sphingomy_PDE,pfscan_SaposinB - no_errors SMPD1 HGNC ENSG00000166311 161 0 0 79 37 31.8966 HPX 0 genome.wustl.edu 37 11 6453257 6453257 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 6453257 6453257 A G SNP HPX ENST00000529037 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors HPX HGNC ENSG00000110169 172 1 0.578035 72 31 30.0971 MEN1 0 genome.wustl.edu 37 11 64573765 64573765 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64573765 64573765 G A SNP MEN1 ENST00000337652 human ensembl 74_37 -1 known missense c.1003 p.R335C 1.000 pfam_Menin pfam_Menin - no_errors MEN1 HGNC ENSG00000133895 243 0 0 119 68 36.3636 ATG2A 0 genome.wustl.edu 37 11 64665443 64665443 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64665443 64665443 C T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known missense c.4868 p.R1623H 0.012 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 162 0 0 64 23 26.4368 ATG2A 0 genome.wustl.edu 37 11 64666107 64666107 + Splice_Site SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64666107 64666107 C T SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known splice_site c.4677+1 e32+1 1.000 - - - no_errors ATG2A HGNC ENSG00000110046 106 0 0 45 25 35.7143 C11orf85 0 genome.wustl.edu 37 11 64708103 64708103 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64708103 64708103 T G SNP C11orf85 ENST00000301896 human ensembl 74_37 -1 known missense c.489 p.K163N 0.972 NULL NULL - no_errors C11orf85 HGNC ENSG00000168070 212 0 0 118 42 26.25 MALAT1 0 genome.wustl.edu 37 11 65271179 65271179 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 65271179 65271179 G A SNP MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MALAT1 HGNC ENSG00000251562 131 0 0 91 6 6.18557 LTBP3 0 genome.wustl.edu 37 11 65307100 65307100 + Splice_Site SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 65307100 65307100 C A SNP LTBP3 ENST00000301873 human ensembl 74_37 -1 known splice_site c.3548-1 e26-1 0.902 - - - no_errors LTBP3 HGNC ENSG00000168056 28 0 0 13 6 31.5789 EHBP1L1 0 genome.wustl.edu 37 11 65348829 65348829 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 65348829 65348829 C T SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known missense c.851 p.T284I 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 33 0 0 21 4 16 EHBP1L1 0 genome.wustl.edu 37 11 65351053 65351053 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 65351053 65351053 T C SNP EHBP1L1 ENST00000309295 human ensembl 74_37 +1 known silent c.2910 p.G970 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 33 0 0 27 4 12.9032 AP5B1 0 genome.wustl.edu 37 11 65546619 65546619 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 65546619 65546619 G A SNP AP5B1 ENST00000532090 human ensembl 74_37 -1 novel missense c.1345 p.R449W 0.241 NULL NULL - no_errors AP5B1 HGNC ENSG00000254470 29 0 0 16 9 36 YIF1A 0 genome.wustl.edu 37 11 66053174 66053174 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 66053174 66053174 T C SNP YIF1A ENST00000376901 human ensembl 74_37 -1 known silent c.483 p.K161 1.000 pfam_Hrf1,pfam_Yip1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 95 0 0 45 18 28.5714 RBM14 0 genome.wustl.edu 37 11 66392810 66392810 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 66392810 66392810 C T SNP RBM14 ENST00000310137 human ensembl 74_37 +1 known missense c.1463 p.A488V 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM14 HGNC ENSG00000239306 222 0 0 147 9 5.76923 PC 0 genome.wustl.edu 37 11 66618339 66618339 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 66618339 66618339 C T SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.2279 p.R760Q 1.000 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 62 0 0 38 14 26.9231 PC 0 genome.wustl.edu 37 11 66639309 66639309 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 66639309 66639309 G A SNP PC ENST00000393958 human ensembl 74_37 -1 known missense c.170 p.T57M 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,pirsf_Pyruv_COase,pfscan_Biotin_carboxylation_dom,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 38 0 0 23 9 28.125 KDM2A 0 genome.wustl.edu 37 11 67017751 67017751 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 67017751 67017751 T C SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known silent c.2250 p.S750 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 KDM2A HGNC ENSG00000173120 46 0 0 34 6 15 RAD9A 0 genome.wustl.edu 37 11 67161249 67161249 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 67161249 67161249 G A SNP RAD9A ENST00000307980 human ensembl 74_37 +1 known missense c.437 p.R146H 0.991 pfam_Rad9/Ddc1,pirsf_Rad9 pfam_Rad9/Ddc1,pirsf_Rad9 - no_errors RAD9A HGNC ENSG00000172613 22 0 0 16 4 20 PPP1CA 0 genome.wustl.edu 37 11 67168168 67168168 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 67168168 67168168 T C SNP PPP1CA ENST00000312989 human ensembl 74_37 -1 known missense c.443 p.Y148C 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP1CA HGNC ENSG00000172531 153 0 0 86 15 14.8515 PTPRCAP 0 genome.wustl.edu 37 11 67203517 67203517 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 67203517 67203517 T C SNP PTPRCAP ENST00000326294 human ensembl 74_37 -1 known missense c.308 p.D103G 0.000 pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP pirsf_Tyr_Pase_rcpt_C-assoc_CD45-AP - no_errors PTPRCAP HGNC ENSG00000213402 71 0 0 43 8 15.6863 GPR152 0 genome.wustl.edu 37 11 67219255 67219255 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 67219255 67219255 G A SNP GPR152 ENST00000312457 human ensembl 74_37 -1 known missense c.941 p.A314V 0.933 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR152 HGNC ENSG00000175514 136 0 0 72 38 34.5455 CABP2 0 genome.wustl.edu 37 11 67287283 67287283 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 67287283 67287283 G A SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known silent c.618 p.D206 0.685 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP2 HGNC ENSG00000167791 131 0 0 58 34 36.9565 OR6A2 0 genome.wustl.edu 37 11 6816234 6816234 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 6816234 6816234 C T SNP OR6A2 ENST00000332601 human ensembl 74_37 -1 known missense c.706 p.A236T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6A2 HGNC ENSG00000184933 253 1 0.393701 147 15 9.25926 IGHMBP2 0 genome.wustl.edu 37 11 68700870 68700870 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 68700870 68700870 G A SNP IGHMBP2 ENST00000255078 human ensembl 74_37 +1 known missense c.1339 p.A447T 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,tigrfam_DNA_helicase_put pfam_R3H_ss-bd,pfam_Znf_AN1,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_R3H_ss-bd,smart_Znf_AN1,pfscan_Znf_AN1,pfscan_R3H_ss-bd,tigrfam_DNA_helicase_put - no_errors IGHMBP2 HGNC ENSG00000132740 43 0 0 18 4 18.1818 ZNF214 0 genome.wustl.edu 37 11 7021758 7021758 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 7021758 7021758 A G SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.1156 p.Y386H 0.990 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 ZNF214 HGNC ENSG00000149050 214 0 0 107 37 25.6944 CTTN 0 genome.wustl.edu 37 11 70265939 70265939 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 70265939 70265939 C T SNP CTTN ENST00000301843 human ensembl 74_37 +1 known missense c.656 p.T219M 1.000 pfam_Hs1_Cortactin,pfscan_Hs1_Cortactin pfam_Hs1_Cortactin,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_Hs1_Cortactin,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors CTTN HGNC ENSG00000085733 88 0 0 25 10 28.5714 NUMA1 0 genome.wustl.edu 37 11 71724239 71724239 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 71724239 71724239 A G SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known missense c.4310 p.L1437P 1.000 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 282 0 0 109 15 12.0968 EPS8L2 0 genome.wustl.edu 37 11 723324 723324 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 723324 723324 A G SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known silent c.1425 p.L475 0.007 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 139 0 0 107 12 10.084 MRPL48 0 genome.wustl.edu 37 11 73555944 73555944 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 73555944 73555944 T C SNP MRPL48 ENST00000310614 human ensembl 74_37 +1 known silent c.294 p.Y98 0.992 pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom pfam_Ribosomal_S10_dom,superfamily_Ribosomal_S10_dom - no_errors MRPL48 HGNC ENSG00000175581 125 0 0 92 6 6.12245 SLCO2B1 0 genome.wustl.edu 37 11 74876980 74876980 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 74876980 74876980 A G SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known missense c.434 p.D145G 0.179 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 303 1 0.328947 193 23 10.6481 SERPINH1 0 genome.wustl.edu 37 11 75280189 75280189 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 75280189 75280189 T C SNP SERPINH1 ENST00000358171 human ensembl 74_37 +1 known silent c.927 p.G309 0.013 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINH1 HGNC ENSG00000149257 29 0 0 22 6 21.4286 ENSG00000255449 0 genome.wustl.edu 37 11 77580756 77580756 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 77580756 77580756 T C SNP ENSG00000255449 ENST00000530972 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-91P24.6 Clone_based_vega_gene ENSG00000255449 268 0 0 114 64 35.9551 THRSP 0 genome.wustl.edu 37 11 77774985 77774985 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 77774985 77774985 T C SNP THRSP ENST00000281030 human ensembl 74_37 +1 known missense c.58 p.Y20H 0.945 pfam_Spot_14 pfam_Spot_14 - no_errors THRSP HGNC ENSG00000151365 157 1 0.632911 102 11 9.73451 TENM4 0 genome.wustl.edu 37 11 78467937 78467937 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 78467937 78467937 T C SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.2669 p.N890S 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 63 0 0 36 16 30.7692 PIDD 0 genome.wustl.edu 37 11 802588 802588 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 802588 802588 A C SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.929 p.L310R 0.000 NULL pfam_Peptidase_S68_pidd,pfam_Death_domain,pfam_Leu-rich_rpt,pfam_ZU5,superfamily_DEATH-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors PIDD HGNC ENSG00000177595 23 0 0 13 7 35 TUB 0 genome.wustl.edu 37 11 8111723 8111723 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 8111723 8111723 A G SNP TUB ENST00000305253 human ensembl 74_37 +1 known silent c.363 p.E121 0.993 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_N,prints_Tubby_C - no_errors TUB HGNC ENSG00000166402 90 0 0 60 13 17.8082 STK33 0 genome.wustl.edu 37 11 8478918 8478918 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 8478918 8478918 C T SNP STK33 ENST00000315204 human ensembl 74_37 -1 known missense c.667 p.A223T 0.957 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 STK33 HGNC ENSG00000130413 165 0 0 69 35 33.6538 TMEM126B 0 genome.wustl.edu 37 11 85345229 85345229 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 85345229 85345229 T C SNP TMEM126B ENST00000358867 human ensembl 74_37 +1 known silent c.303 p.H101 0.043 pfam_DUF1370_TMEM126 pfam_DUF1370_TMEM126 - no_errors TMEM126B HGNC ENSG00000171204 155 0 0 88 17 16.1905 CTSC 0 genome.wustl.edu 37 11 88027562 88027562 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 88027562 88027562 T A SNP CTSC ENST00000227266 human ensembl 74_37 -1 known missense c.1004 p.E335V 0.004 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_CathepsinC_exc,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSC HGNC ENSG00000109861 234 0 0 111 49 30.625 FAT3 0 genome.wustl.edu 37 11 92087727 92087727 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 92087727 92087727 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.2449 p.L817M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 120 0 0 42 20 32.2581 FAT3 0 genome.wustl.edu 37 11 92533129 92533129 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 92533129 92533129 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.6950 p.E2317G 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 44 0 0 23 5 17.8571 SCARNA9 0 genome.wustl.edu 37 11 93454869 93454869 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 93454869 93454869 C T SNP SCARNA9 ENST00000530422 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SCARNA9 HGNC ENSG00000254911 49 0 0 29 13 30.9524 PANX1 0 genome.wustl.edu 37 11 93911695 93911695 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 93911695 93911695 G A SNP PANX1 ENST00000227638 human ensembl 74_37 +1 known missense c.482 p.R161H 0.000 pfam_Innexin,pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 118 0 0 58 36 38.2979 FUT4 0 genome.wustl.edu 37 11 94278118 94278118 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 94278118 94278118 A G SNP FUT4 ENST00000358752 human ensembl 74_37 +1 known silent c.819 p.A273 0.000 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT4 HGNC ENSG00000196371 28 0 0 10 8 44.4444 IPO7 0 genome.wustl.edu 37 11 9446771 9446771 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 9446771 9446771 C T SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known silent c.1297 p.L433 1.000 pfam_Cse1,superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 124 0 0 107 6 5.30973 IPO7 0 genome.wustl.edu 37 11 9452545 9452545 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 9452545 9452545 A G SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known missense c.1876 p.K626E 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 86 0 0 58 9 13.4328 IPO7 0 genome.wustl.edu 37 11 9456521 9456521 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 9456521 9456521 A G SNP IPO7 ENST00000379719 human ensembl 74_37 +1 known silent c.2115 p.T705 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO7 HGNC ENSG00000205339 172 0 0 88 36 29.0323 KDM4E 0 genome.wustl.edu 37 11 94759243 94759243 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 94759243 94759243 A G SNP KDM4E ENST00000450979 human ensembl 74_37 +1 known silent c.522 p.T174 0.817 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,smart_TF_JmjN,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4E HGNC ENSG00000235268 144 1 0.689655 88 37 29.6 ENDOD1 0 genome.wustl.edu 37 11 94862256 94862256 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 94862256 94862256 T C SNP ENDOD1 ENST00000278505 human ensembl 74_37 +1 known missense c.1016 p.F339S 0.084 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors ENDOD1 HGNC ENSG00000149218 104 0 0 72 12 14.2857 CEP57 0 genome.wustl.edu 37 11 95561052 95561052 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 95561052 95561052 A G SNP CEP57 ENST00000325542 human ensembl 74_37 +1 known missense c.988 p.I330V 0.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 197 0 0 122 69 36.1257 SBF2 0 genome.wustl.edu 37 11 9875254 9875254 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 9875254 9875254 G A SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.2369 p.A790V 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 262 0 0 132 64 32.6531 UHRF1BP1L 0 genome.wustl.edu 37 12 100482808 100482808 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 100482808 100482808 T C SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known silent c.906 p.V302 0.823 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 155 0 0 83 6 6.74157 NR1H4 0 genome.wustl.edu 37 12 100904733 100904733 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 100904733 100904733 A T SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known missense c.287 p.Y96F 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 162 0 0 115 8 6.50407 GAS2L3 0 genome.wustl.edu 37 12 101017693 101017693 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 101017693 101017693 T C SNP GAS2L3 ENST00000266754 human ensembl 74_37 +1 known silent c.1110 p.R370 0.002 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L3 HGNC ENSG00000139354 204 0 0 90 57 38.7755 ANO4 0 genome.wustl.edu 37 12 101381326 101381326 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 101381326 101381326 A G SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known silent c.612 p.K204 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 827 1 0.120773 568 38 6.27063 GNPTAB 0 genome.wustl.edu 37 12 102158448 102158448 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 102158448 102158448 T C SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known silent c.2247 p.K749 0.009 pfam_DMAP1-bd pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 110 0 0 72 4 5.26316 GNPTAB 0 genome.wustl.edu 37 12 102158674 102158674 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 102158674 102158674 C T SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.2021 p.R674H 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 132 0 0 76 9 10.5882 PARPBP 0 genome.wustl.edu 37 12 102590100 102590100 + RNA SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 102590100 102590100 A T SNP PARPBP ENST00000535811 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PARPBP HGNC ENSG00000185480 40 0 0 20 4 16.6667 STAB2 0 genome.wustl.edu 37 12 104030964 104030964 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 104030964 104030964 T G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.659 p.L220R 0.477 smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 249 0 0 152 17 10.0592 STAB2 0 genome.wustl.edu 37 12 104123945 104123945 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 104123945 104123945 A G SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.5134 p.S1712G 0.010 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 251 0 0 121 60 33.1492 STAB2 0 genome.wustl.edu 37 12 104142848 104142848 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 104142848 104142848 G A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.6352 p.G2118R 1.000 smart_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 123 0 0 64 22 25.5814 KLRD1 0 genome.wustl.edu 37 12 10466091 10466091 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 10466091 10466091 G A SNP KLRD1 ENST00000381908 human ensembl 74_37 +1 known missense c.401 p.G134D 0.945 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors KLRD1 HGNC ENSG00000134539 201 0 0 95 38 28.5714 TXNRD1 0 genome.wustl.edu 37 12 104681126 104681126 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 104681126 104681126 T C SNP TXNRD1 ENST00000388854 human ensembl 74_37 +1 known splice_site c.10+2 e1+2 0.002 - - - no_errors TXNRD1 HGNC ENSG00000198431 618 0 0 291 142 32.7945 ALDH1L2 0 genome.wustl.edu 37 12 105418218 105418218 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 105418218 105418218 A G SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.2756 p.V919A 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 40 0 0 22 9 29.0323 ENSG00000180574 0 genome.wustl.edu 37 12 10659494 10659494 + Silent SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 10659494 10659494 T G SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known silent c.993 p.A331 0.985 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 280 0 0 143 61 29.902 POLR3B 0 genome.wustl.edu 37 12 106763412 106763412 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 106763412 106763412 T C SNP POLR3B ENST00000228347 human ensembl 74_37 +1 known missense c.355 p.Y119H 1.000 pfam_RNA_pol_bsu_protrusion pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_5 - no_errors POLR3B HGNC ENSG00000013503 185 0 0 86 45 34.3511 PWP1 0 genome.wustl.edu 37 12 108082460 108082460 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 108082460 108082460 G A SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known missense c.200 p.R67H 0.002 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 PWP1 HGNC ENSG00000136045 115 0 0 52 20 27.7778 WSCD2 0 genome.wustl.edu 37 12 108589987 108589987 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 108589987 108589987 G T SNP WSCD2 ENST00000261400 human ensembl 74_37 +1 known missense c.378 p.E126D 0.987 NULL pfam_WSC_carb-bd,superfamily_P-loop_NTPase,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd - no_errors WSCD2 HGNC ENSG00000075035 70 0 0 25 18 41.8605 SART3 0 genome.wustl.edu 37 12 108924060 108924060 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 108924060 108924060 G A SNP SART3 ENST00000228284 human ensembl 74_37 -1 known nonsense c.1774 p.Q592* 1.000 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 146 0 0 71 11 13.4146 SART3 0 genome.wustl.edu 37 12 108926095 108926095 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 108926095 108926095 G A SNP SART3 ENST00000228284 human ensembl 74_37 -1 known silent c.1572 p.T524 0.229 NULL pfam_RRM_dom,pfam_LSM_interact,smart_HAT,smart_RRM_dom,pfscan_RRM_dom - no_errors SART3 HGNC ENSG00000075856 129 0 0 82 7 7.86517 SSH1 0 genome.wustl.edu 37 12 109194580 109194580 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 109194580 109194580 G A SNP SSH1 ENST00000326495 human ensembl 74_37 -1 known missense c.1124 p.A375V 0.999 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat 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 SSH1 HGNC ENSG00000084112 179 0 0 91 40 30.5344 ACACB 0 genome.wustl.edu 37 12 109674991 109674991 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 109674991 109674991 C T SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.4468 p.R1490C 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 224 0 0 116 45 27.9503 ACACB 0 genome.wustl.edu 37 12 109685462 109685462 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 109685462 109685462 C A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5623 p.L1875M 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_N pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 247 1 0.403226 167 18 9.72973 KCTD10 0 genome.wustl.edu 37 12 109894111 109894111 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 109894111 109894111 C T SNP KCTD10 ENST00000228495 human ensembl 74_37 -1 known missense c.535 p.D179N 1.000 NULL pfam_T1-type_BTB,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors KCTD10 HGNC ENSG00000110906 129 0 0 63 35 35.7143 FAM222A 0 genome.wustl.edu 37 12 110206189 110206189 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 110206189 110206189 G A SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known missense c.455 p.S152N 1.000 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 31 0 0 12 8 40 FAM222A 0 genome.wustl.edu 37 12 110206716 110206716 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 110206716 110206716 C T SNP FAM222A ENST00000358906 human ensembl 74_37 +1 known missense c.982 p.P328S 0.999 NULL NULL - no_errors FAM222A HGNC ENSG00000139438 18 0 0 3 3 50 TRPV4 0 genome.wustl.edu 37 12 110246174 110246174 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 110246174 110246174 G A SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known silent c.486 p.S162 0.998 tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,prints_TRPV4_channel,tigrfam_TRP_channel - no_errors TRPV4 HGNC ENSG00000111199 83 0 0 64 15 18.9873 ANAPC7 0 genome.wustl.edu 37 12 110834127 110834127 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 110834127 110834127 T C SNP ANAPC7 ENST00000455511 human ensembl 74_37 -1 known missense c.334 p.K112E 1.000 NULL pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors ANAPC7 HGNC ENSG00000196510 157 0 0 106 42 28.3784 CUX2 0 genome.wustl.edu 37 12 111760355 111760355 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 111760355 111760355 C T SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.2897 p.A966V 0.988 superfamily_Lambda_DNA-bd_dom,pfscan_Hmoeo_CUT pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors CUX2 HGNC ENSG00000111249 45 0 0 13 6 31.5789 ATXN2 0 genome.wustl.edu 37 12 111907920 111907920 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 111907920 111907920 G A SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.3308 p.A1103V 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 191 0 0 84 49 36.8421 ATXN2 0 genome.wustl.edu 37 12 111951319 111951319 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 111951319 111951319 G T SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.1880 p.A627D 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 86 0 0 44 14 24.1379 TAS2R64P 0 genome.wustl.edu 37 12 11230660 11230660 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 11230660 11230660 A G SNP TAS2R64P ENST00000534866 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAS2R64P HGNC ENSG00000256274 54 0 0 15 30 66.6667 HECTD4 0 genome.wustl.edu 37 12 112688056 112688056 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 112688056 112688056 G T SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.3326 p.P1109H 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 196 0 0 97 46 32.1678 PTPN11 0 genome.wustl.edu 37 12 112924296 112924296 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 112924296 112924296 G A SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known silent c.1242 p.T414 0.011 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 157 0 0 92 12 11.5385 OAS3 0 genome.wustl.edu 37 12 113379472 113379472 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 113379472 113379472 C T SNP OAS3 ENST00000228928 human ensembl 74_37 +1 known missense c.275 p.A92V 0.000 pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS3 HGNC ENSG00000111331 170 0 0 85 40 32 ERC1 0 genome.wustl.edu 37 12 1137465 1137465 + Silent SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 1137465 1137465 T A SNP ERC1 ENST00000360905 human ensembl 74_37 +1 known silent c.396 p.P132 0.591 NULL pfam_CAZ_cplx_RIM-bd_prot,pfam_Rab-bd_FIP-RBD,superfamily_Prefoldin - no_errors ERC1 HGNC ENSG00000082805 153 0 0 115 12 9.44882 MED13L 0 genome.wustl.edu 37 12 116403940 116403940 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 116403940 116403940 A G SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.6334 p.W2112R 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 332 0 0 169 65 27.7778 MED13L 0 genome.wustl.edu 37 12 116421280 116421280 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 116421280 116421280 G C SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.4597 p.P1533A 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 173 0 0 95 37 28.0303 MED13L 0 genome.wustl.edu 37 12 116428979 116428979 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 116428979 116428979 A G SNP MED13L ENST00000281928 human ensembl 74_37 -1 known silent c.3780 p.S1260 0.983 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 247 0 0 161 12 6.93642 FBXO21 0 genome.wustl.edu 37 12 117603360 117603360 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 117603360 117603360 T C SNP FBXO21 ENST00000330622 human ensembl 74_37 -1 known missense c.1256 p.Y419C 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 205 0 0 121 19 13.5714 NOS1 0 genome.wustl.edu 37 12 117665266 117665266 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 117665266 117665266 T C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3586 p.T1196A 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl,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 110 0 0 62 20 24.3902 VSIG10 0 genome.wustl.edu 37 12 118506221 118506221 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 118506221 118506221 T C SNP VSIG10 ENST00000359236 human ensembl 74_37 -1 known missense c.1528 p.N510D 0.715 NULL 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 - no_errors VSIG10 HGNC ENSG00000176834 248 1 0.401606 136 44 24.4444 HNF1A 0 genome.wustl.edu 37 12 121438866 121438866 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 121438866 121438866 A G SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known splice_site c.1769-2 e10-2 1.000 - - - no_errors HNF1A HGNC ENSG00000135100 92 0 0 50 22 30.5556 KDM2B 0 genome.wustl.edu 37 12 121958857 121958857 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 121958857 121958857 G A SNP KDM2B ENST00000377071 human ensembl 74_37 -1 known silent c.978 p.G326 0.931 smart_JmjC_dom,pfscan_JmjC_dom 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 96 0 0 42 23 35.3846 DIABLO 0 genome.wustl.edu 37 12 122702813 122702813 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 122702813 122702813 C A SNP DIABLO ENST00000443649 human ensembl 74_37 -1 known missense c.315 p.K105N 1.000 pfam_Smac_DIABLO,superfamily_Smac_DIABLO-like pfam_Smac_DIABLO,superfamily_Smac_DIABLO-like - no_errors DIABLO HGNC ENSG00000184047 208 0 0 93 38 29.0076 VPS37B 0 genome.wustl.edu 37 12 123351983 123351983 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 123351983 123351983 G A SNP VPS37B ENST00000267202 human ensembl 74_37 -1 known silent c.538 p.L180 0.984 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 202 0 0 121 9 6.92308 EIF2B1 0 genome.wustl.edu 37 12 124106441 124106441 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 124106441 124106441 C T SNP EIF2B1 ENST00000424014 human ensembl 74_37 -1 known silent c.780 p.A260 0.000 pfam_IF-2B-related pfam_IF-2B-related - no_errors EIF2B1 HGNC ENSG00000111361 58 0 0 44 5 10.2041 DNAH10 0 genome.wustl.edu 37 12 124283835 124283835 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 124283835 124283835 T C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.1852 p.Y618H 0.999 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 107 0 0 78 8 9.30233 DNAH10 0 genome.wustl.edu 37 12 124393872 124393872 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 124393872 124393872 T C SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.9526 p.Y3176H 0.988 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 35 0 0 20 3 13.0435 DHX37 0 genome.wustl.edu 37 12 125461903 125461903 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 125461903 125461903 T C SNP DHX37 ENST00000308736 human ensembl 74_37 -1 known missense c.872 p.E291G 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX37 HGNC ENSG00000150990 411 1 0.242718 211 95 31.0458 TMEM132B 0 genome.wustl.edu 37 12 126138514 126138514 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 126138514 126138514 T C SNP TMEM132B ENST00000299308 human ensembl 74_37 +1 known missense c.2495 p.F832S 0.003 NULL NULL - no_errors TMEM132B HGNC ENSG00000139364 126 0 0 86 5 5.49451 TMEM132D 0 genome.wustl.edu 37 12 129566529 129566529 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 129566529 129566529 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.1698 p.R566 0.009 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 155 0 0 73 18 19.7802 DDX47 0 genome.wustl.edu 37 12 12974332 12974332 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 12974332 12974332 T C SNP DDX47 ENST00000358007 human ensembl 74_37 +1 known splice_site c.370+2 e3+2 1.000 - - - no_errors DDX47 HGNC ENSG00000213782 203 0 0 171 9 5 ULK1 0 genome.wustl.edu 37 12 132400526 132400526 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 132400526 132400526 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known missense c.1700 p.R567H 0.159 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 116 0 0 51 23 31.0811 DDX51 0 genome.wustl.edu 37 12 132626443 132626443 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 132626443 132626443 G A SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known missense c.947 p.T316M 0.988 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 99 0 0 62 5 7.46269 GOLGA3 0 genome.wustl.edu 37 12 133350799 133350799 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 133350799 133350799 C T SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known silent c.4251 p.P1417 0.023 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 72 0 0 47 13 21.6667 GOLGA3 0 genome.wustl.edu 37 12 133365855 133365855 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 133365855 133365855 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.2569 p.R857C 0.960 superfamily_Prefoldin superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 64 0 0 29 10 25.641 GOLGA3 0 genome.wustl.edu 37 12 133374952 133374952 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 133374952 133374952 T C SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known missense c.1912 p.I638V 1.000 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 231 0 0 94 55 36.9128 ERP27 0 genome.wustl.edu 37 12 15068460 15068460 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 15068460 15068460 T C SNP ERP27 ENST00000266397 human ensembl 74_37 -1 known missense c.737 p.Q246R 0.701 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors ERP27 HGNC ENSG00000139055 138 0 0 82 13 13.6842 ENSG00000256879 0 genome.wustl.edu 37 12 20523192 20523192 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 20523192 20523192 A G SNP ENSG00000256879 ENST00000535755 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-284H19.1 Clone_based_vega_gene ENSG00000256879 47 0 0 37 4 9.7561 CACNA1C 0 genome.wustl.edu 37 12 2162730 2162730 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 2162730 2162730 T C SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 27 0 0 9 5 35.7143 ABCC9 0 genome.wustl.edu 37 12 22025570 22025570 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 22025570 22025570 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known silent c.2187 p.V729 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,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 255 0 0 146 50 25.5102 KRAS 0 genome.wustl.edu 37 12 25378562 25378562 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 25378562 25378562 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.436 p.A146T 1.000 pfam_Small_GTPase,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 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 KRAS HGNC ENSG00000133703 175 0 0 99 43 30.2817 RASSF8 0 genome.wustl.edu 37 12 26217646 26217646 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 26217646 26217646 C T SNP RASSF8 ENST00000282884 human ensembl 74_37 +1 known missense c.319 p.P107S 1.000 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF8 HGNC ENSG00000123094 184 1 0.540541 104 45 30.2013 IPO8 0 genome.wustl.edu 37 12 30833414 30833414 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 30833414 30833414 A G SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known splice_site c.639+2 e5+2 0.998 - - - no_errors IPO8 HGNC ENSG00000133704 100 0 0 45 17 27.4194 BICD1 0 genome.wustl.edu 37 12 32369202 32369202 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 32369202 32369202 A G SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.235 p.I79V 0.995 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 118 0 0 82 32 28.0702 PKP2 0 genome.wustl.edu 37 12 33031026 33031026 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 33031026 33031026 G A SNP PKP2 ENST00000070846 human ensembl 74_37 -1 known missense c.788 p.T263M 0.092 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP2 HGNC ENSG00000057294 91 0 0 48 22 31.4286 SYT10 0 genome.wustl.edu 37 12 33538209 33538209 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 33538209 33538209 A G SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.1095 p.G365 0.447 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 68 0 0 45 6 11.7647 ALG10 0 genome.wustl.edu 37 12 34179676 34179676 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 34179676 34179676 T C SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known silent c.1248 p.R416 0.997 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 370 0 0 247 13 5 CNTN1 0 genome.wustl.edu 37 12 41414173 41414173 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 41414173 41414173 A C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2454 p.K818N 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 92 0 0 60 8 11.7647 CNTN1 0 genome.wustl.edu 37 12 41414195 41414195 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 41414195 41414195 T A SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2476 p.S826T 0.438 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 94 0 0 59 5 7.8125 CNTN1 0 genome.wustl.edu 37 12 41419019 41419019 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 41419019 41419019 A G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2591 p.Y864C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 463 0 0 298 38 11.3095 ZCRB1 0 genome.wustl.edu 37 12 42707747 42707747 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 42707747 42707747 G A SNP ZCRB1 ENST00000266529 human ensembl 74_37 -1 known silent c.375 p.L125 0.986 NULL pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 150 0 0 125 7 5.30303 ZCRB1 0 genome.wustl.edu 37 12 42711240 42711240 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 42711240 42711240 T C SNP ZCRB1 ENST00000266529 human ensembl 74_37 -1 known missense c.235 p.R79G 0.993 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_RRM_dom_euk,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors ZCRB1 HGNC ENSG00000139168 75 0 0 28 10 26.3158 IRAK4 0 genome.wustl.edu 37 12 44171500 44171500 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 44171500 44171500 T C SNP IRAK4 ENST00000448290 human ensembl 74_37 +1 known missense c.784 p.Y262H 0.995 pirsf_IL-1_rcpt-assoc_kin4,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 pirsf_IL-1_rcpt-assoc_kin4,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_DEATH-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 IRAK4 HGNC ENSG00000198001 155 0 0 98 40 28.9855 ANO6 0 genome.wustl.edu 37 12 45797269 45797269 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 45797269 45797269 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.1830 p.I610M 0.993 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 207 0 0 90 40 30.7692 ANO6 0 genome.wustl.edu 37 12 45814903 45814903 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 45814903 45814903 A G SNP ANO6 ENST00000425752 human ensembl 74_37 +1 known missense c.2267 p.Y756C 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO6 HGNC ENSG00000177119 187 0 0 101 44 30.3448 SLC38A4 0 genome.wustl.edu 37 12 47163208 47163208 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 47163208 47163208 G A SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.1303 p.R435C 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 194 0 0 104 33 24.0876 VDR 0 genome.wustl.edu 37 12 48251368 48251368 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 48251368 48251368 C T SNP VDR ENST00000229022 human ensembl 74_37 -1 known silent c.381 p.E127 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd 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_VitD_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors VDR HGNC ENSG00000111424 167 0 0 92 5 5.15464 GALNT8 0 genome.wustl.edu 37 12 4848407 4848407 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 4848407 4848407 T C SNP GALNT8 ENST00000252318 human ensembl 74_37 +1 known silent c.588 p.I196 0.184 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT8 HGNC ENSG00000130035 135 0 0 98 11 10.0917 KMT2D 0 genome.wustl.edu 37 12 49425292 49425292 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 49425292 49425292 A G SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.13196 p.L4399P 0.981 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 46 0 0 19 5 20.8333 KMT2D 0 genome.wustl.edu 37 12 49435307 49435307 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 49435307 49435307 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.6246 p.S2082 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 130 0 0 98 8 7.54717 TROAP 0 genome.wustl.edu 37 12 49719633 49719633 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 49719633 49719633 G A SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.599 p.G200D 0.117 NULL NULL - no_errors TROAP HGNC ENSG00000135451 90 0 0 36 20 35.7143 KCNH3 0 genome.wustl.edu 37 12 49934785 49934785 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 49934785 49934785 C T SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known silent c.180 p.V60 1.000 pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_PAS,pfscan_PAS,tigrfam_PAS pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 116 0 0 62 28 31.1111 AQP2 0 genome.wustl.edu 37 12 50348487 50348487 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 50348487 50348487 C T SNP AQP2 ENST00000199280 human ensembl 74_37 +1 known silent c.600 p.D200 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors AQP2 HGNC ENSG00000167580 206 0 0 111 28 20.1439 RACGAP1 0 genome.wustl.edu 37 12 50387958 50387958 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 50387958 50387958 G A SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known missense c.1295 p.P432L 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 339 0 0 206 21 9.2511 ACVRL1 0 genome.wustl.edu 37 12 52309152 52309152 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 52309152 52309152 G A SNP ACVRL1 ENST00000550683 human ensembl 74_37 +1 known missense c.958 p.A320T 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_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 94 0 0 41 17 29.3103 ACVRL1 0 genome.wustl.edu 37 12 52312813 52312813 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 52312813 52312813 A G SNP ACVRL1 ENST00000550683 human ensembl 74_37 +1 known missense c.1333 p.N445D 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_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVRL1 HGNC ENSG00000139567 158 0 0 101 36 26.2774 KRT121P 0 genome.wustl.edu 37 12 52646140 52646140 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 52646140 52646140 G A SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors KRT121P HGNC ENSG00000135477 147 0 0 96 10 9.43396 MFSD5 0 genome.wustl.edu 37 12 53647543 53647543 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 53647543 53647543 C T SNP MFSD5 ENST00000534842 human ensembl 74_37 +1 known silent c.1245 p.H415 1.000 pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_DUF791,pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD5 HGNC ENSG00000182544 185 0 0 102 50 32.8947 SP1 0 genome.wustl.edu 37 12 53776296 53776296 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 53776296 53776296 T C SNP SP1 ENST00000327443 human ensembl 74_37 +1 known missense c.565 p.F189L 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP1 HGNC ENSG00000185591 188 0 0 142 20 12.3457 CALCOCO1 0 genome.wustl.edu 37 12 54115379 54115379 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 54115379 54115379 C T SNP CALCOCO1 ENST00000550804 human ensembl 74_37 -1 known silent c.630 p.G210 1.000 pfam_CoCoA pfam_CoCoA - no_errors CALCOCO1 HGNC ENSG00000012822 825 0 0 431 212 32.9705 PPP1R1A 0 genome.wustl.edu 37 12 54971212 54971212 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 54971212 54971212 T C SNP PPP1R1A ENST00000547431 human ensembl 74_37 -1 novel missense c.422 p.H141R 0.000 NULL pfam_PPI_1DARPP-32 - no_errors PPP1R1A HGNC ENSG00000135447 439 0 0 332 36 9.78261 ITGA7 0 genome.wustl.edu 37 12 56086971 56086971 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56086971 56086971 G T SNP ITGA7 ENST00000555728 human ensembl 74_37 -1 known missense c.2798 p.P933H 0.964 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA7 HGNC ENSG00000135424 207 0 0 99 47 32.1918 DNAJC14 0 genome.wustl.edu 37 12 56221646 56221646 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56221646 56221646 A G SNP DNAJC14 ENST00000317269 human ensembl 74_37 -1 known missense c.797 p.V266A 0.998 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC14 HGNC ENSG00000135392 150 0 0 48 17 26.1538 ERBB3 0 genome.wustl.edu 37 12 56487146 56487146 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56487146 56487146 T C SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1292 p.L431S 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 195 0 0 133 7 5 ZC3H10 0 genome.wustl.edu 37 12 56515288 56515288 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56515288 56515288 T C SNP ZC3H10 ENST00000257940 human ensembl 74_37 +1 known silent c.942 p.T314 0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H10 HGNC ENSG00000135482 90 0 0 52 3 5.45455 TIMELESS 0 genome.wustl.edu 37 12 56817439 56817439 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56817439 56817439 C T SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.2019 p.E673 1.000 NULL pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 55 0 0 48 5 9.43396 NACA 0 genome.wustl.edu 37 12 57110008 57110008 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57110008 57110008 G A SNP NACA ENST00000454682 human ensembl 74_37 -1 known missense c.5306 p.A1769V 0.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 75 0 0 63 20 24.0964 SDR9C7 0 genome.wustl.edu 37 12 57317808 57317808 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57317808 57317808 G A SNP SDR9C7 ENST00000293502 human ensembl 74_37 -1 known nonsense c.751 p.Q251* 0.267 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors SDR9C7 HGNC ENSG00000170426 111 0 0 95 5 5 MYO1A 0 genome.wustl.edu 37 12 57423603 57423603 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57423603 57423603 A G SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known missense c.2645 p.L882P 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 170 0 0 83 41 33.0645 LRP1 0 genome.wustl.edu 37 12 57571369 57571369 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57571369 57571369 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.4356 p.D1452 0.967 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 58 0 0 23 17 42.5 LRP1 0 genome.wustl.edu 37 12 57592013 57592013 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57592013 57592013 C T SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.9357 p.C3119 0.756 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,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 55 0 0 28 12 30 LRP1 0 genome.wustl.edu 37 12 57592261 57592261 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57592261 57592261 A G SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known missense c.9484 p.T3162A 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,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 56 0 0 40 6 13.0435 KIF5A 0 genome.wustl.edu 37 12 57957311 57957311 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57957311 57957311 T C SNP KIF5A ENST00000455537 human ensembl 74_37 +1 known splice_site c.217+2 e2+2 1.000 - - - no_errors KIF5A HGNC ENSG00000155980 121 0 0 89 15 14.4231 VWF 0 genome.wustl.edu 37 12 6230409 6230409 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 6230409 6230409 A G SNP VWF ENST00000261405 human ensembl 74_37 -1 known missense c.151 p.Y51H 1.000 pirsf_VWF,pfam_VWF_type-D,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,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_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 107 0 0 54 21 28 PPM1H 0 genome.wustl.edu 37 12 63195910 63195910 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 63195910 63195910 A G SNP PPM1H ENST00000228705 human ensembl 74_37 -1 known missense c.442 p.S148P 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 59 0 0 37 12 24.4898 SRGAP1 0 genome.wustl.edu 37 12 64505760 64505760 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 64505760 64505760 A G SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known missense c.2138 p.D713G 1.000 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 119 0 0 51 29 36.25 HMGA2 0 genome.wustl.edu 37 12 66308838 66308838 + Splice_Site SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 66308838 66308838 G T SNP HMGA2 ENST00000354636 human ensembl 74_37 +1 known splice_site c.250-1 e4-1 0.001 - - - no_errors HMGA2 HGNC ENSG00000149948 311 0 0 142 46 24.4681 NCAPD2 0 genome.wustl.edu 37 12 6632385 6632385 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 6632385 6632385 T C SNP NCAPD2 ENST00000542492 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NCAPD2 HGNC ENSG00000010292 137 0 0 86 27 23.8938 IRAK3 0 genome.wustl.edu 37 12 66641827 66641827 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 66641827 66641827 C A SNP IRAK3 ENST00000261233 human ensembl 74_37 +1 known missense c.1667 p.P556H 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Death_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom - no_errors IRAK3 HGNC ENSG00000090376 317 0 0 166 58 25.8929 HELB 0 genome.wustl.edu 37 12 66703603 66703603 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 66703603 66703603 T C SNP HELB ENST00000247815 human ensembl 74_37 +1 known missense c.895 p.S299P 0.059 NULL superfamily_P-loop_NTPase - no_errors HELB HGNC ENSG00000127311 279 0 0 207 22 9.60699 CHD4 0 genome.wustl.edu 37 12 6700956 6700956 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 6700956 6700956 G A SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.3126 p.G1042 1.000 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD4 HGNC ENSG00000111642 156 0 0 114 9 7.31707 NINJ2 0 genome.wustl.edu 37 12 675056 675056 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 675056 675056 G A SNP NINJ2 ENST00000433832 human ensembl 74_37 -1 putative missense c.214 p.P72S 0.000 NULL pfam_Ninjurin - no_errors NINJ2 HGNC ENSG00000171840 53 0 0 34 4 10.5263 IFNG 0 genome.wustl.edu 37 12 68552014 68552014 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 68552014 68552014 T A SNP IFNG ENST00000229135 human ensembl 74_37 -1 known missense c.140 p.D47V 0.000 pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma pfam_Interferon_gamma,superfamily_4_helix_cytokine-like_core,pirsf_Interferon_gamma - no_errors IFNG HGNC ENSG00000111537 32 0 0 18 8 30.7692 NUP107 0 genome.wustl.edu 37 12 69135681 69135681 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 69135681 69135681 T C SNP NUP107 ENST00000229179 human ensembl 74_37 +1 known missense c.2591 p.I864T 0.860 pfam_Nup84_Nup100 pfam_Nup84_Nup100 - no_errors NUP107 HGNC ENSG00000111581 197 0 0 92 45 32.8467 CPM 0 genome.wustl.edu 37 12 69250279 69250279 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 69250279 69250279 C T SNP CPM ENST00000338356 human ensembl 74_37 -1 known missense c.1270 p.A424T 0.555 NULL pfam_Peptidase_M14,pfam_Aste_AspA,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPM HGNC ENSG00000135678 173 0 0 98 42 30 GPR162 0 genome.wustl.edu 37 12 6933831 6933831 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 6933831 6933831 C T SNP GPR162 ENST00000311268 human ensembl 74_37 +1 known missense c.767 p.S256L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR162,prints_GCR_153/162 - no_errors GPR162 HGNC ENSG00000250510 101 0 0 41 28 40.5797 PTPN6 0 genome.wustl.edu 37 12 7069334 7069334 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 7069334 7069334 T C SNP PTPN6 ENST00000456013 human ensembl 74_37 +1 known missense c.1513 p.Y505H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN6 HGNC ENSG00000111679 78 0 0 55 22 28.5714 ENSG00000258168 0 genome.wustl.edu 37 12 70932062 70932062 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 70932062 70932062 A G SNP ENSG00000258168 ENST00000546836 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-588H23.3 Clone_based_vega_gene ENSG00000258168 44 0 0 26 13 33.3333 PTPRB 0 genome.wustl.edu 37 12 71029640 71029640 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 71029640 71029640 A G SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known missense c.262 p.S88P 0.998 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 57 0 0 28 11 28.2051 LGR5 0 genome.wustl.edu 37 12 71974204 71974204 + Splice_Site SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 71974204 71974204 G A SNP LGR5 ENST00000266674 human ensembl 74_37 +1 known splice_site c.1552+1 e16+1 1.000 - - - no_errors LGR5 HGNC ENSG00000139292 386 0 0 242 73 23.1746 ENSG00000257761 0 genome.wustl.edu 37 12 71977313 71977313 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 71977313 71977313 G A SNP ENSG00000257761 ENST00000546601 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-186F10.2 Clone_based_vega_gene ENSG00000257761 54 0 0 29 11 27.5 CSRP2 0 genome.wustl.edu 37 12 77253398 77253398 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 77253398 77253398 C T SNP CSRP2 ENST00000311083 human ensembl 74_37 -1 known missense c.434 p.R145Q 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors CSRP2 HGNC ENSG00000175183 77 0 0 33 10 23.2558 E2F7 0 genome.wustl.edu 37 12 77449854 77449854 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 77449854 77449854 T C SNP E2F7 ENST00000322886 human ensembl 74_37 -1 known silent c.150 p.E50 0.998 NULL pfam_E2F_TDP - no_errors E2F7 HGNC ENSG00000165891 193 0 0 127 8 5.92593 SLC2A3 0 genome.wustl.edu 37 12 8083863 8083863 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 8083863 8083863 A G SNP SLC2A3 ENST00000075120 human ensembl 74_37 -1 known missense c.488 p.V163A 0.993 pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,pfam_Folate_carrier,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_3,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A3 HGNC ENSG00000059804 112 0 0 52 32 38.0952 C3AR1 0 genome.wustl.edu 37 12 8211659 8211659 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 8211659 8211659 T C SNP C3AR1 ENST00000307637 human ensembl 74_37 -1 known missense c.1123 p.T375A 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Anaphtx_C3AR1,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_Formyl_pep_rcpt,prints_Anaphtx_C5AR1/C5AR2 - no_errors C3AR1 HGNC ENSG00000171860 102 0 0 52 15 22.3881 TMTC2 0 genome.wustl.edu 37 12 83359353 83359353 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 83359353 83359353 A G SNP TMTC2 ENST00000321196 human ensembl 74_37 +1 known missense c.1699 p.T567A 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 195 0 0 83 39 31.9672 LRRIQ1 0 genome.wustl.edu 37 12 85450662 85450662 + Silent SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 85450662 85450662 A T SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.2091 p.V697 0.009 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 269 0 0 109 48 30.5732 RASSF9 0 genome.wustl.edu 37 12 86198792 86198792 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 86198792 86198792 A G SNP RASSF9 ENST00000361228 human ensembl 74_37 -1 known silent c.996 p.I332 1.000 NULL smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF9 HGNC ENSG00000198774 416 0 0 245 34 12.1864 EPYC 0 genome.wustl.edu 37 12 91358019 91358019 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 91358019 91358019 G A SNP EPYC ENST00000261172 human ensembl 74_37 -1 known nonsense c.883 p.R295* 1.000 NULL pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors EPYC HGNC ENSG00000083782 119 0 0 83 43 34.127 PLEKHG7 0 genome.wustl.edu 37 12 93162797 93162797 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 93162797 93162797 A G SNP PLEKHG7 ENST00000344636 human ensembl 74_37 +1 known missense c.973 p.N325D 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG7 HGNC ENSG00000187510 25 0 0 11 4 26.6667 SOCS2 0 genome.wustl.edu 37 12 93968638 93968638 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 93968638 93968638 A G SNP SOCS2 ENST00000340600 human ensembl 74_37 +1 known missense c.280 p.N94D 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC ENSG00000120833 134 0 0 51 29 36.25 SOCS2 0 genome.wustl.edu 37 12 93968662 93968662 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 93968662 93968662 G A SNP SOCS2 ENST00000340600 human ensembl 74_37 +1 known missense c.304 p.G102R 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors SOCS2 HGNC ENSG00000120833 124 0 0 54 29 34.9398 PLXNC1 0 genome.wustl.edu 37 12 94580155 94580155 + Nonsense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 94580155 94580155 A T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known nonsense c.1345 p.R449* 1.000 superfamily_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 107 1 0.925926 43 17 28.3333 FGD6 0 genome.wustl.edu 37 12 95603554 95603554 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 95603554 95603554 A G SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known silent c.1506 p.H502 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 280 0 0 152 62 28.972 ELK3 0 genome.wustl.edu 37 12 96641161 96641161 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 96641161 96641161 C T SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known silent c.651 p.S217 0.061 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 160 0 0 80 45 36 C12orf55 0 genome.wustl.edu 37 12 97098550 97098550 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 97098550 97098550 T C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative silent c.6504 p.L2168 0.997 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 30 0 0 15 4 21.0526 C12orf55 0 genome.wustl.edu 37 12 97102450 97102450 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 97102450 97102450 T C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.6593 p.L2198P 0.958 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 114 0 0 95 11 10.3774 SLC9A7P1 0 genome.wustl.edu 37 12 98849710 98849710 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 98849710 98849710 A G SNP SLC9A7P1 ENST00000554295 human ensembl 74_37 -1 putative rna NULL NULL 0.003 - - - no_errors SLC9A7P1 HGNC ENSG00000227825 158 0 0 124 7 5.34351 ANKS1B 0 genome.wustl.edu 37 12 99174974 99174974 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 99174974 99174974 G A SNP ANKS1B ENST00000547362 human ensembl 74_37 -1 known nonsense c.313 p.Q105* 1.000 NULL NULL - no_errors ANKS1B HGNC ENSG00000185046 12 0 0 4 4 50 TM9SF2 0 genome.wustl.edu 37 13 100196200 100196200 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 100196200 100196200 C T SNP TM9SF2 ENST00000376387 human ensembl 74_37 +1 known silent c.1101 p.V367 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF2 HGNC ENSG00000125304 214 0 0 136 13 8.72483 PCCA 0 genome.wustl.edu 37 13 100909900 100909900 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 100909900 100909900 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.689 p.R230H 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_RimK-type,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_Biotin_lipoyl - no_errors PCCA HGNC ENSG00000175198 75 0 0 29 10 25.641 NALCN 0 genome.wustl.edu 37 13 101797171 101797171 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 101797171 101797171 T C SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1916 p.N639S 1.000 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 424 0 0 289 34 10.5263 FGF14 0 genome.wustl.edu 37 13 102375275 102375275 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 102375275 102375275 G A SNP FGF14 ENST00000376131 human ensembl 74_37 -1 known missense c.665 p.T222M 1.000 superfamily_Cytokine_IL1-like pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF14 HGNC ENSG00000102466 147 0 0 70 33 32.0388 BIVM 0 genome.wustl.edu 37 13 103474505 103474505 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 103474505 103474505 A C SNP BIVM ENST00000257336 human ensembl 74_37 +1 known missense c.897 p.E299D 1.000 NULL NULL - no_errors BIVM HGNC ENSG00000134897 127 0 0 53 22 29.3333 RAB20 0 genome.wustl.edu 37 13 111176256 111176256 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 111176256 111176256 G A SNP RAB20 ENST00000267328 human ensembl 74_37 -1 known missense c.461 p.A154V 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho 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 RAB20 HGNC ENSG00000139832 124 0 0 75 20 21.0526 F7 0 genome.wustl.edu 37 13 113770010 113770010 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 113770010 113770010 G A SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.467 p.G156D 0.992 pirsf_Pept_S1A_FX,smart_EG-like_dom pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 51 0 0 36 10 21.7391 F7 0 genome.wustl.edu 37 13 113772918 113772918 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 113772918 113772918 C A SNP F7 ENST00000375581 human ensembl 74_37 +1 known missense c.997 p.L333M 0.993 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F7 HGNC ENSG00000057593 108 0 0 37 18 32.7273 PCID2 0 genome.wustl.edu 37 13 113845128 113845128 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 113845128 113845128 G A SNP PCID2 ENST00000491548 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PCID2 HGNC ENSG00000126226 31 0 0 12 4 25 LAMP1 0 genome.wustl.edu 37 13 113965127 113965127 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 113965127 113965127 G A SNP LAMP1 ENST00000332556 human ensembl 74_37 +1 known silent c.507 p.T169 0.000 pfam_Lysosome-assoc_membr_glycop pfam_Lysosome-assoc_membr_glycop,prints_Lysosome-assoc_membr_glycop - no_errors LAMP1 HGNC ENSG00000185896 174 1 0.571429 70 31 30.6931 TFDP1 0 genome.wustl.edu 37 13 114286166 114286166 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 114286166 114286166 C T SNP TFDP1 ENST00000465174 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors TFDP1 HGNC ENSG00000198176 18 0 0 8 5 38.4615 GJB6 0 genome.wustl.edu 37 13 20797216 20797216 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 20797216 20797216 G A SNP GJB6 ENST00000241124 human ensembl 74_37 -1 known missense c.404 p.T135M 0.999 prints_Connexin pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJB6 HGNC ENSG00000121742 113 0 0 73 32 30.4762 LATS2 0 genome.wustl.edu 37 13 21557671 21557671 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 21557671 21557671 T C SNP LATS2 ENST00000382592 human ensembl 74_37 -1 known missense c.2174 p.N725S 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 302 0 0 192 12 5.88235 SGCG 0 genome.wustl.edu 37 13 23853591 23853591 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 23853591 23853591 T C SNP SGCG ENST00000218867 human ensembl 74_37 +1 known missense c.479 p.V160A 0.990 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCG HGNC ENSG00000102683 68 0 0 35 18 33.9623 SACS 0 genome.wustl.edu 37 13 23906235 23906235 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 23906235 23906235 G A SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.11780 p.A3927V 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 265 0 0 134 61 31.2821 SACS 0 genome.wustl.edu 37 13 23914771 23914771 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 23914771 23914771 C T SNP SACS ENST00000382292 human ensembl 74_37 -1 known missense c.3244 p.D1082N 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 412 0 0 187 99 34.6154 SPATA13 0 genome.wustl.edu 37 13 24823711 24823711 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 24823711 24823711 C T SNP SPATA13 ENST00000382108 human ensembl 74_37 +1 known missense c.1750 p.R584W 0.272 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 107 0 0 51 22 30.137 CENPJ 0 genome.wustl.edu 37 13 25480479 25480479 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 25480479 25480479 C T SNP CENPJ ENST00000381884 human ensembl 74_37 -1 known missense c.1697 p.R566Q 0.909 NULL pfam_Tcp10_C_dom - no_errors CENPJ HGNC ENSG00000151849 126 0 0 59 33 35.8696 PABPC3 0 genome.wustl.edu 37 13 25670497 25670497 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 25670497 25670497 A G SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.161 p.Y54C 1.000 pfam_RRM_dom,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 PABPC3 HGNC ENSG00000151846 147 0 0 71 25 26.0417 AMER2 0 genome.wustl.edu 37 13 25745036 25745036 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 25745036 25745036 G A SNP AMER2 ENST00000515384 human ensembl 74_37 -1 known missense c.722 p.T241M 0.393 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER2 HGNC ENSG00000165566 29 0 0 15 12 44.4444 GPR12 0 genome.wustl.edu 37 13 27333371 27333371 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 27333371 27333371 G A SNP GPR12 ENST00000381436 human ensembl 74_37 -1 known silent c.594 p.N198 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPR12,prints_GPCR_Rhodpsn - no_errors GPR12 HGNC ENSG00000132975 119 0 0 62 17 21.519 LNX2 0 genome.wustl.edu 37 13 28124542 28124542 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 28124542 28124542 T C SNP LNX2 ENST00000316334 human ensembl 74_37 -1 known missense c.1865 p.N622S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX2 HGNC ENSG00000139517 118 0 0 70 28 28.5714 GSX1 0 genome.wustl.edu 37 13 28367838 28367838 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 28367838 28367838 A G SNP GSX1 ENST00000302945 human ensembl 74_37 +1 known missense c.548 p.Y183C 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 GSX1 HGNC ENSG00000169840 179 0 0 92 21 18.5841 PAN3 0 genome.wustl.edu 37 13 28862160 28862160 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 28862160 28862160 T C SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known silent c.2424 p.R808 0.858 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 100 0 0 79 5 5.95238 MTUS2-AS1 0 genome.wustl.edu 37 13 30062217 30062217 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 30062217 30062217 A G SNP MTUS2-AS1 ENST00000323380 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MTUS2-AS1 HGNC ENSG00000179141 27 0 0 13 5 27.7778 HSPH1 0 genome.wustl.edu 37 13 31717998 31717998 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 31717998 31717998 T C SNP HSPH1 ENST00000445273 human ensembl 74_37 -1 known silent c.1653 p.Q551 0.048 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPH1 HGNC ENSG00000120694 215 0 0 149 9 5.6962 BRCA2 0 genome.wustl.edu 37 13 32913347 32913347 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 32913347 32913347 A G SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.4855 p.N1619D 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 172 0 0 80 36 31.0345 BRCA2 0 genome.wustl.edu 37 13 32929041 32929041 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 32929041 32929041 G A SNP BRCA2 ENST00000380152 human ensembl 74_37 +1 known missense c.7051 p.A2351T 0.007 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 164 0 0 73 34 31.7757 NBEA 0 genome.wustl.edu 37 13 35733985 35733985 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 35733985 35733985 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.3677 p.A1226V 0.020 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 26 0 0 11 4 26.6667 NBEA 0 genome.wustl.edu 37 13 35770145 35770145 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 35770145 35770145 T C SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.5072 p.L1691S 0.979 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 97 0 0 59 6 9.23077 SMAD9 0 genome.wustl.edu 37 13 37453642 37453642 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 37453642 37453642 G A SNP SMAD9 ENST00000379826 human ensembl 74_37 -1 known missense c.185 p.P62L 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,pfam_Interferon_reg_factor-3,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 SMAD9 HGNC ENSG00000120693 221 0 0 106 51 32.4841 EXOSC8 0 genome.wustl.edu 37 13 37577117 37577117 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 37577117 37577117 T A SNP EXOSC8 ENST00000389704 human ensembl 74_37 +1 known missense c.165 p.N55K 0.990 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 95 0 0 46 24 34.2857 SUPT20H 0 genome.wustl.edu 37 13 37583829 37583829 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 37583829 37583829 G A SNP SUPT20H ENST00000350612 human ensembl 74_37 -1 known missense c.2320 p.P774S 0.993 NULL pfam_Spt20 - no_errors SUPT20H HGNC ENSG00000102710 287 1 0.347222 141 53 27.3196 FREM2 0 genome.wustl.edu 37 13 39265089 39265089 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 39265089 39265089 G A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.3608 p.G1203D 1.000 superfamily_Cadherin-like pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 638 0 0 400 49 10.9131 FREM2 0 genome.wustl.edu 37 13 39265723 39265723 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 39265723 39265723 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.4242 p.I1414 0.186 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 284 0 0 123 50 28.9017 FREM2 0 genome.wustl.edu 37 13 39425215 39425215 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 39425215 39425215 A G SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.6712 p.T2238A 1.000 smart_Calx_beta pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 188 0 0 82 31 27.4336 KBTBD6 0 genome.wustl.edu 37 13 41705362 41705362 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 41705362 41705362 T C SNP KBTBD6 ENST00000379485 human ensembl 74_37 -1 known missense c.1286 p.D429G 0.999 pfam_Kelch_1 pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KBTBD6 HGNC ENSG00000165572 234 0 0 177 11 5.85106 KBTBD7 0 genome.wustl.edu 37 13 41768040 41768040 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 41768040 41768040 G A SNP KBTBD7 ENST00000379483 human ensembl 74_37 -1 known silent c.354 p.D118 0.996 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD7 HGNC ENSG00000120696 47 0 0 36 13 26.5306 VWA8 0 genome.wustl.edu 37 13 42149902 42149902 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 42149902 42149902 T C SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.5344 p.N1782D 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 152 0 0 87 18 17.1429 ENOX1 0 genome.wustl.edu 37 13 43872523 43872523 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 43872523 43872523 G A SNP ENOX1 ENST00000261488 human ensembl 74_37 -1 known nonsense c.1405 p.Q469* 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX1 HGNC ENSG00000120658 244 0 0 135 71 34.466 LACC1 0 genome.wustl.edu 37 13 44463069 44463069 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 44463069 44463069 C T SNP LACC1 ENST00000325686 human ensembl 74_37 +1 known nonsense c.1084 p.Q362* 0.003 pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat pfam_Cu_polyphenol_OxRdtase_Laccase,superfamily_Cytotoxic_necrot_fac-like_cat - no_errors LACC1 HGNC ENSG00000179630 284 0 0 186 16 7.92079 ZC3H13 0 genome.wustl.edu 37 13 46554101 46554101 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 46554101 46554101 T C SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.1759 p.S587G 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 165 0 0 97 9 8.49057 SUCLA2 0 genome.wustl.edu 37 13 48570976 48570976 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 48570976 48570976 A G SNP SUCLA2 ENST00000378654 human ensembl 74_37 -1 known splice_site c.271+2 e2+2 1.000 - - - no_errors SUCLA2 HGNC ENSG00000136143 110 0 0 53 27 33.75 RB1 0 genome.wustl.edu 37 13 48947548 48947548 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 48947548 48947548 A T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.1135 p.M379L 1.000 pfam_RB_A pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 140 0 0 92 29 23.9669 INTS6 0 genome.wustl.edu 37 13 52004496 52004496 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 52004496 52004496 C T SNP INTS6 ENST00000311234 human ensembl 74_37 -1 known silent c.363 p.E121 1.000 pfam_VWF_A,pfscan_VWF_A pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 236 0 0 138 45 24.5902 MRPS31P5 0 genome.wustl.edu 37 13 52749871 52749871 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 52749871 52749871 T C SNP MRPS31P5 ENST00000416599 human ensembl 74_37 -1 known rna NULL NULL 0.972 - - - no_errors MRPS31P5 HGNC ENSG00000243406 54 0 0 44 4 8.33333 LOC101930578 0 genome.wustl.edu 37 13 52854026 52854026 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 52854026 52854026 T C SNP LOC101930578 ENST00000451298 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-248G5.8 Clone_based_vega_gene ENSG00000217576 17 0 0 14 4 22.2222 SUGT1 0 genome.wustl.edu 37 13 53250418 53250418 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 53250418 53250418 G A SNP SUGT1 ENST00000343788 human ensembl 74_37 +1 known silent c.777 p.G259 0.945 superfamily_HSP20-like_chaperone pfam_SGS,pfam_CS_dom,superfamily_HSP20-like_chaperone,smart_TPR_repeat,pfscan_CS_dom,pfscan_SGS,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SUGT1 HGNC ENSG00000165416 105 0 0 65 4 5.7971 PCDH8 0 genome.wustl.edu 37 13 53421057 53421057 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 53421057 53421057 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.1515 p.S505 0.101 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH8 HGNC ENSG00000136099 24 0 0 10 3 23.0769 PCDH8 0 genome.wustl.edu 37 13 53422041 53422041 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 53422041 53422041 C T SNP PCDH8 ENST00000377942 human ensembl 74_37 -1 known silent c.531 p.P177 0.010 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 PCDH8 HGNC ENSG00000136099 18 0 0 7 4 36.3636 TDRD3 0 genome.wustl.edu 37 13 61041374 61041374 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 61041374 61041374 T C SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.356 p.L119P 1.000 NULL pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 202 0 0 93 35 27.3438 TDRD3 0 genome.wustl.edu 37 13 61141669 61141669 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 61141669 61141669 G A SNP TDRD3 ENST00000535286 human ensembl 74_37 +1 known missense c.2129 p.G710D 0.908 pfam_Survival_motor_neuron pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors TDRD3 HGNC ENSG00000083544 132 0 0 84 6 6.66667 PCDH9 0 genome.wustl.edu 37 13 67800539 67800539 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 67800539 67800539 T C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known silent c.2034 p.P678 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 147 0 0 87 30 25.641 UCHL3 0 genome.wustl.edu 37 13 76179869 76179869 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 76179869 76179869 C T SNP UCHL3 ENST00000377595 human ensembl 74_37 +1 known missense c.614 p.A205V 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL3 HGNC ENSG00000118939 137 0 0 67 22 24.7191 MYCBP2 0 genome.wustl.edu 37 13 77652957 77652957 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 77652957 77652957 A G SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known splice_site c.11484+2 e66+2 1.000 - - - no_errors MYCBP2 HGNC ENSG00000005810 38 0 0 28 3 9.67742 MYCBP2 0 genome.wustl.edu 37 13 77780843 77780843 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 77780843 77780843 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.3534 p.L1178 0.994 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 118 0 0 42 17 28.8136 SLITRK5 0 genome.wustl.edu 37 13 88327790 88327790 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 88327790 88327790 C T SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known silent c.147 p.D49 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 241 0 0 122 55 31.0734 ABCC4 0 genome.wustl.edu 37 13 95886989 95886989 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 95886989 95886989 C T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.406 p.A136T 0.000 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,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 59 0 0 23 12 34.2857 MBNL2 0 genome.wustl.edu 37 13 97995277 97995277 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 97995277 97995277 T C SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.347 p.F116S 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 108 0 0 45 34 43.038 IPO5 0 genome.wustl.edu 37 13 98658469 98658469 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 98658469 98658469 T A SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1637 p.V546D 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 335 0 0 210 27 11.3924 GPR183 0 genome.wustl.edu 37 13 99947711 99947711 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 99947711 99947711 T C SNP GPR183 ENST00000376414 human ensembl 74_37 -1 known missense c.689 p.N230S 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR183 HGNC ENSG00000169508 235 0 0 152 19 11.1111 EVL 0 genome.wustl.edu 37 14 100604082 100604082 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 100604082 100604082 C T SNP EVL ENST00000392920 human ensembl 74_37 +1 known missense c.1037 p.P346L 1.000 pirsf_Vasodilator_phosphoprotein pfam_WH1/EVH1,pfam_VASP_tetra,smart_WH1/EVH1,pirsf_Vasodilator_phosphoprotein,pfscan_WH1/EVH1 - no_errors EVL HGNC ENSG00000196405 197 0 0 86 39 31.2 MIR487B 0 genome.wustl.edu 37 14 101512793 101512793 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 101512793 101512793 T C SNP MIR487B ENST00000385021 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MIR487B HGNC ENSG00000207754 154 0 0 103 6 5.50459 ZNF839 0 genome.wustl.edu 37 14 102805235 102805235 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 102805235 102805235 G A SNP ZNF839 ENST00000442396 human ensembl 74_37 +1 known missense c.1742 p.R581Q 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF839 HGNC ENSG00000022976 84 0 0 50 11 18.0328 KLC1 0 genome.wustl.edu 37 14 104121164 104121164 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 104121164 104121164 T C SNP KLC1 ENST00000334553 human ensembl 74_37 +1 known splice_site c.261+2 e1+2 1.000 - - - no_errors KLC1 HGNC ENSG00000126214 122 0 0 45 28 38.3562 TDRD9 0 genome.wustl.edu 37 14 104460920 104460920 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 104460920 104460920 C T SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.1300 p.P434S 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 50 0 0 26 13 33.3333 ADSSL1 0 genome.wustl.edu 37 14 105208219 105208219 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105208219 105208219 C A SNP ADSSL1 ENST00000332972 human ensembl 74_37 +1 known silent c.957 p.T319 0.018 pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSSL1 HGNC ENSG00000185100 262 0 0 152 58 27.619 AHNAK2 0 genome.wustl.edu 37 14 105409919 105409919 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105409919 105409919 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11869 p.A3957T 0.045 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 585 0 0 403 30 6.92841 AHNAK2 0 genome.wustl.edu 37 14 105411037 105411037 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105411037 105411037 T C SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.10751 p.D3584G 0.830 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 359 1 0.277778 158 57 26.5116 AHNAK2 0 genome.wustl.edu 37 14 105413365 105413365 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105413365 105413365 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8423 p.A2808V 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 615 0 0 437 44 9.14761 AHNAK2 0 genome.wustl.edu 37 14 105419601 105419601 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105419601 105419601 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known silent c.2187 p.S729 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 331 1 0.301205 150 82 35.3448 CDCA4 0 genome.wustl.edu 37 14 105477960 105477960 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105477960 105477960 G A SNP CDCA4 ENST00000336219 human ensembl 74_37 -1 known missense c.307 p.R103C 1.000 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 81 0 0 34 23 40.3509 MTA1 0 genome.wustl.edu 37 14 105936442 105936442 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105936442 105936442 G A SNP MTA1 ENST00000331320 human ensembl 74_37 +1 known missense c.2038 p.A680T 0.997 NULL pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors MTA1 HGNC ENSG00000182979 96 0 0 34 12 26.087 OR4K1 0 genome.wustl.edu 37 14 20403942 20403942 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 20403942 20403942 G A SNP OR4K1 ENST00000285600 human ensembl 74_37 +1 known silent c.117 p.V39 0.000 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K1 HGNC ENSG00000155249 442 1 0.225734 251 116 31.6076 CCNB1IP1 0 genome.wustl.edu 37 14 20784646 20784646 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 20784646 20784646 G A SNP CCNB1IP1 ENST00000353689 human ensembl 74_37 -1 known nonsense c.37 p.R13* 1.000 NULL NULL - no_errors CCNB1IP1 HGNC ENSG00000100814 101 0 0 48 27 36 TEP1 0 genome.wustl.edu 37 14 20840980 20840980 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 20840980 20840980 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.6988 p.A2330T 0.012 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 178 1 0.558659 85 36 29.7521 OSGEP 0 genome.wustl.edu 37 14 20917404 20917404 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 20917404 20917404 G A SNP OSGEP ENST00000206542 human ensembl 74_37 -1 known missense c.433 p.R145C 1.000 pfam_Gcp-like_dom,tigrfam_KAE1/YgjD pfam_Gcp-like_dom,prints_KAE1/YgjD,tigrfam_KAE1/YgjD - no_errors OSGEP HGNC ENSG00000092094 93 0 0 43 15 25.8621 LOC101929718 0 genome.wustl.edu 37 14 21465126 21465126 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21465126 21465126 T C SNP LOC101929718 ENST00000557335 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors RP11-84C10.4 Clone_based_vega_gene ENSG00000258471 41 0 0 22 4 15.3846 ARHGEF40 0 genome.wustl.edu 37 14 21549794 21549794 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21549794 21549794 C T SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.2767 p.R923W 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 48 0 0 21 12 36.3636 TOX4 0 genome.wustl.edu 37 14 21961331 21961331 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21961331 21961331 C A SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known missense c.1556 p.P519H 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 154 0 0 114 12 9.52381 OR4E2 0 genome.wustl.edu 37 14 22134094 22134094 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 22134094 22134094 C A SNP OR4E2 ENST00000408935 human ensembl 74_37 +1 known silent c.798 p.S266 0.044 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 114 1 0.869565 56 24 30 BCL2L2 0 genome.wustl.edu 37 14 23777114 23777114 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 23777114 23777114 G A SNP BCL2L2 ENST00000250405 human ensembl 74_37 +1 known missense c.138 p.M46I 1.000 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_BclW pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_BclW,prints_Blc2_fam - no_errors BCL2L2 HGNC ENSG00000129473 174 0 0 82 47 36.4341 EFS 0 genome.wustl.edu 37 14 23829242 23829242 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 23829242 23829242 C T SNP EFS ENST00000216733 human ensembl 74_37 -1 known missense c.445 p.D149N 0.998 NULL pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain - no_errors EFS HGNC ENSG00000100842 148 0 0 87 37 29.8387 LRRC16B 0 genome.wustl.edu 37 14 24531766 24531766 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 24531766 24531766 A G SNP LRRC16B ENST00000342740 human ensembl 74_37 +1 known missense c.2558 p.H853R 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 261 0 0 136 67 33.0049 PCK2 0 genome.wustl.edu 37 14 24569353 24569353 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 24569353 24569353 G A SNP PCK2 ENST00000216780 human ensembl 74_37 +1 known missense c.1165 p.E389K 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK2 HGNC ENSG00000100889 99 0 0 67 8 10.6667 DCAF11 0 genome.wustl.edu 37 14 24587991 24587991 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 24587991 24587991 A G SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known missense c.757 p.T253A 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 294 0 0 142 59 29.3532 DCAF11 0 genome.wustl.edu 37 14 24590142 24590142 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 24590142 24590142 A G SNP DCAF11 ENST00000446197 human ensembl 74_37 +1 known silent c.1188 p.S396 0.984 superfamily_WD40_repeat_dom,pirsf_WD_repeat_p23,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p23,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors DCAF11 HGNC ENSG00000100897 143 0 0 107 7 6.14035 SDR39U1 0 genome.wustl.edu 37 14 24910013 24910013 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 24910013 24910013 T C SNP SDR39U1 ENST00000399395 human ensembl 74_37 -1 known missense c.448 p.T150A 1.000 pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put pfam_DUF1731_C,pfam_Epimerase_deHydtase,tigrfam_Sugar_nucleotide_Epase_put - no_errors SDR39U1 HGNC ENSG00000100445 170 0 0 119 14 10.5263 CTSG 0 genome.wustl.edu 37 14 25044010 25044010 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 25044010 25044010 T C SNP CTSG ENST00000216336 human ensembl 74_37 -1 known missense c.210 p.I70M 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CTSG HGNC ENSG00000100448 156 0 0 118 9 7.08661 STXBP6 0 genome.wustl.edu 37 14 25288385 25288385 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 25288385 25288385 T C SNP STXBP6 ENST00000323944 human ensembl 74_37 -1 known missense c.467 p.H156R 1.000 pfscan_Synaptobrevin pfam_Synaptobrevin,pfscan_Synaptobrevin - no_errors STXBP6 HGNC ENSG00000168952 259 0 0 181 14 7.17949 FOXG1 0 genome.wustl.edu 37 14 29237197 29237197 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 29237197 29237197 T A SNP FOXG1 ENST00000313071 human ensembl 74_37 +1 known missense c.712 p.C238S 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 FOXG1 HGNC ENSG00000176165 84 0 0 41 18 30.5085 FSCB 0 genome.wustl.edu 37 14 44976167 44976167 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 44976167 44976167 A G SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.24 p.T8 0.963 NULL NULL - no_errors FSCB HGNC ENSG00000189139 410 0 0 244 42 14.6853 FKBP3 0 genome.wustl.edu 37 14 45587241 45587241 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 45587241 45587241 G A SNP FKBP3 ENST00000216330 human ensembl 74_37 -1 known missense c.610 p.P204S 1.000 pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP3 HGNC ENSG00000100442 305 0 0 167 69 29.2373 FKBP3 0 genome.wustl.edu 37 14 45599093 45599093 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 45599093 45599093 A G SNP FKBP3 ENST00000216330 human ensembl 74_37 -1 known silent c.222 p.G74 0.981 NULL pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP3 HGNC ENSG00000100442 56 0 0 25 10 28.5714 MIS18BP1 0 genome.wustl.edu 37 14 45700487 45700487 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 45700487 45700487 T C SNP MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known missense c.1451 p.N484S 0.844 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 106 0 0 38 23 37.7049 RPL10L 0 genome.wustl.edu 37 14 47120567 47120567 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 47120567 47120567 T C SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.373 p.T125A 0.839 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 149 0 0 71 4 5.33333 RPL10L 0 genome.wustl.edu 37 14 47120671 47120671 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 47120671 47120671 C T SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.269 p.R90Q 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 118 0 0 54 37 40.6593 ABHD12B 0 genome.wustl.edu 37 14 51347272 51347272 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 51347272 51347272 T C SNP ABHD12B ENST00000337334 human ensembl 74_37 +1 known silent c.438 p.H146 0.985 NULL pfam_AB_hydrolase_1,pfam_Peptidase_S9,pfam_X-Pro-like_dom - no_errors ABHD12B HGNC ENSG00000131969 300 0 0 134 80 37.3832 TRIM9 0 genome.wustl.edu 37 14 51561624 51561624 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 51561624 51561624 C T SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.34 p.V12M 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 31 0 0 19 6 24 FRMD6 0 genome.wustl.edu 37 14 52174925 52174925 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 52174925 52174925 G A SNP FRMD6 ENST00000344768 human ensembl 74_37 +1 known missense c.688 p.A230T 0.986 pfam_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD6 HGNC ENSG00000139926 63 0 0 35 14 28.5714 PTGER2 0 genome.wustl.edu 37 14 52781392 52781392 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 52781392 52781392 A G SNP PTGER2 ENST00000245457 human ensembl 74_37 +1 known silent c.126 p.A42 0.997 pfscan_GPCR_Rhodpsn_7TM,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP2_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors PTGER2 HGNC ENSG00000125384 87 0 0 36 10 21.7391 GPR137C 0 genome.wustl.edu 37 14 53020116 53020116 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 53020116 53020116 T A SNP GPR137C ENST00000321662 human ensembl 74_37 +1 known missense c.251 p.L84H 1.000 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 47 0 0 21 18 46.1538 FERMT2 0 genome.wustl.edu 37 14 53417283 53417283 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 53417283 53417283 C T SNP FERMT2 ENST00000343279 human ensembl 74_37 -1 known missense c.4 p.A2T 1.000 NULL pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 255 0 0 126 68 35.0515 EXOC5 0 genome.wustl.edu 37 14 57676479 57676479 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 57676479 57676479 A T SNP EXOC5 ENST00000413566 human ensembl 74_37 -1 known missense c.1744 p.Y582N 1.000 pfam_Sec10-like pfam_Sec10-like - no_errors EXOC5 HGNC ENSG00000070367 26 0 0 11 4 26.6667 DACT1 0 genome.wustl.edu 37 14 59113577 59113577 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 59113577 59113577 C T SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known nonsense c.2236 p.Q746* 0.780 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 225 0 0 90 31 25.6198 DAAM1 0 genome.wustl.edu 37 14 59791105 59791105 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 59791105 59791105 T A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.922 p.F308I 1.000 pfam_FH3_dom,superfamily_ARM-type_fold 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 121 0 0 75 15 16.6667 DAAM1 0 genome.wustl.edu 37 14 59835393 59835393 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 59835393 59835393 G A SNP DAAM1 ENST00000351081 human ensembl 74_37 +1 known missense c.3053 p.R1018H 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,superfamily_tRNA-bd_arm,smart_FH2_Formin - no_errors DAAM1 HGNC ENSG00000100592 84 0 0 30 15 33.3333 PPM1A 0 genome.wustl.edu 37 14 60756548 60756548 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 60756548 60756548 G A SNP PPM1A ENST00000325642 human ensembl 74_37 +1 known missense c.1196 p.G399D 1.000 pfam_PP2C_C,superfamily_PP2C_C pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1A HGNC ENSG00000100614 55 0 0 40 4 9.09091 SIX6 0 genome.wustl.edu 37 14 60977805 60977805 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 60977805 60977805 C T SNP SIX6 ENST00000327720 human ensembl 74_37 +1 known silent c.576 p.L192 0.996 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX6 HGNC ENSG00000184302 53 0 0 30 12 28.5714 PRKCH 0 genome.wustl.edu 37 14 62014542 62014542 + Nonsense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 62014542 62014542 A T SNP PRKCH ENST00000332981 human ensembl 74_37 +1 known nonsense c.1843 p.K615* 1.000 superfamily_Kinase-like_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,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_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCH HGNC ENSG00000027075 522 1 0.191205 260 106 28.9617 SYNE2 0 genome.wustl.edu 37 14 64637149 64637149 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 64637149 64637149 A G SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.17204 p.Y5735C 0.000 NULL pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 42 0 0 23 9 28.125 PLEKHG3 0 genome.wustl.edu 37 14 65205539 65205539 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 65205539 65205539 G A SNP PLEKHG3 ENST00000394691 human ensembl 74_37 +1 known missense c.1484 p.R495H 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG3 HGNC ENSG00000126822 14 0 0 5 2 28.5714 SPTB 0 genome.wustl.edu 37 14 65260187 65260187 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 65260187 65260187 C T SNP SPTB ENST00000389722 human ensembl 74_37 -1 known missense c.2194 p.A732T 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 91 0 0 48 7 12.7273 VTI1B 0 genome.wustl.edu 37 14 68129195 68129195 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 68129195 68129195 G A SNP VTI1B ENST00000554659 human ensembl 74_37 -1 known missense c.173 p.T58M 1.000 pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE pfam_Vesicle_trsprt_v-SNARE_N,superfamily_t-SNARE,smart_T_SNARE_dom - no_errors VTI1B HGNC ENSG00000100568 60 0 0 45 11 19.6429 ZFYVE26 0 genome.wustl.edu 37 14 68270908 68270908 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 68270908 68270908 G T SNP ZFYVE26 ENST00000347230 human ensembl 74_37 -1 known missense c.1345 p.H449N 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel - no_errors ZFYVE26 HGNC ENSG00000072121 143 0 0 67 30 30.9278 ACTN1 0 genome.wustl.edu 37 14 69341810 69341810 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 69341810 69341810 G A SNP ACTN1 ENST00000538545 human ensembl 74_37 -1 novel silent c.2559 p.G853 0.000 NULL 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 ACTN1 HGNC ENSG00000072110 30 0 0 2 5 71.4286 ACTN1 0 genome.wustl.edu 37 14 69371427 69371427 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 69371427 69371427 C T SNP ACTN1 ENST00000394419 human ensembl 74_37 -1 known silent c.621 p.T207 0.012 pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain 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 ACTN1 HGNC ENSG00000072110 111 0 0 80 33 29.2035 SLC39A9 0 genome.wustl.edu 37 14 69925109 69925109 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 69925109 69925109 C T SNP SLC39A9 ENST00000555840 human ensembl 74_37 +1 known silent c.723 p.N241 1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A9 HGNC ENSG00000029364 367 0 0 185 88 32.2344 ADAM21 0 genome.wustl.edu 37 14 70924361 70924361 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 70924361 70924361 A G SNP ADAM21 ENST00000267499 human ensembl 74_37 +1 known missense c.145 p.I49V 0.012 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM21 HGNC ENSG00000139985 272 0 0 175 23 11.6162 ADAM20 0 genome.wustl.edu 37 14 70990174 70990174 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 70990174 70990174 C T SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known missense c.1451 p.C484Y 1.000 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 273 0 0 176 13 6.87831 DCAF4 0 genome.wustl.edu 37 14 73420907 73420907 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 73420907 73420907 A T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known missense c.844 p.I282F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 735 0 0 320 41 11.3573 TTLL5 0 genome.wustl.edu 37 14 76330197 76330197 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 76330197 76330197 C T SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.3514 p.R1172W 0.991 NULL pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 177 0 0 63 24 27.5862 GPATCH2L 0 genome.wustl.edu 37 14 76620992 76620992 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 76620992 76620992 C T SNP GPATCH2L ENST00000261530 human ensembl 74_37 +1 known nonsense c.286 p.R96* 1.000 NULL NULL - no_errors GPATCH2L HGNC ENSG00000089916 169 0 0 81 37 31.3559 KIAA1737 0 genome.wustl.edu 37 14 77580348 77580348 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 77580348 77580348 C T SNP KIAA1737 ENST00000361786 human ensembl 74_37 +1 known missense c.887 p.A296V 0.004 NULL NULL - no_errors KIAA1737 HGNC ENSG00000198894 181 0 0 83 30 26.5487 TMED8 0 genome.wustl.edu 37 14 77818084 77818084 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 77818084 77818084 A T SNP TMED8 ENST00000216468 human ensembl 74_37 -1 known missense c.129 p.D43E 1.000 NULL superfamily_GOLD,pfscan_GOLD - no_errors TMED8 HGNC ENSG00000100580 198 0 0 86 39 31.2 AHSA1 0 genome.wustl.edu 37 14 77932002 77932002 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 77932002 77932002 A G SNP AHSA1 ENST00000216479 human ensembl 74_37 +1 known missense c.682 p.T228A 1.000 pfam_Activator_of_Hsp90_ATPase pfam_AHSA1_N,pfam_Activator_of_Hsp90_ATPase,superfamily_AHSA1_N - no_errors AHSA1 HGNC ENSG00000100591 113 0 0 62 23 27.0588 ISM2 0 genome.wustl.edu 37 14 77948915 77948915 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 77948915 77948915 C T SNP ISM2 ENST00000342219 human ensembl 74_37 -1 known nonsense c.723 p.W241* 1.000 NULL pfam_AMOP,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_AMOP,pfscan_AMOP,pfscan_Thrombospondin_1_rpt - no_errors ISM2 HGNC ENSG00000100593 281 0 0 217 28 11.4286 NRXN3 0 genome.wustl.edu 37 14 79117646 79117646 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 79117646 79117646 A G SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.1192 p.N398D 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,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 176 0 0 77 55 41.6667 PTPN21 0 genome.wustl.edu 37 14 88946101 88946101 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 88946101 88946101 C T SNP PTPN21 ENST00000328736 human ensembl 74_37 -1 known missense c.1674 p.M558I 1.000 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 75 0 0 27 12 30.7692 EML5 0 genome.wustl.edu 37 14 89124530 89124530 + Splice_Site SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 89124530 89124530 C G SNP EML5 ENST00000554922 human ensembl 74_37 -1 known splice_site c.3877+1 e26+1 1.000 - - - no_errors EML5 HGNC ENSG00000165521 91 0 0 37 14 27.451 EML5 0 genome.wustl.edu 37 14 89163261 89163261 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 89163261 89163261 T C SNP EML5 ENST00000554922 human ensembl 74_37 -1 known silent c.2274 p.T758 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML5 HGNC ENSG00000165521 50 0 0 39 6 13.3333 NRDE2 0 genome.wustl.edu 37 14 90754804 90754804 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 90754804 90754804 T G SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.2915 p.H972P 1.000 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 172 0 0 92 42 31.3433 C14orf159 0 genome.wustl.edu 37 14 91691156 91691156 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 91691156 91691156 C T SNP C14orf159 ENST00000256324 human ensembl 74_37 +1 known silent c.1845 p.D615 0.000 pirsf_UPF0317_mt pfam_DUF1445,pirsf_UPF0317_mt - no_errors C14orf159 HGNC ENSG00000133943 48 0 0 27 15 35.7143 GPR68 0 genome.wustl.edu 37 14 91701203 91701203 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 91701203 91701203 C T SNP GPR68 ENST00000238699 human ensembl 74_37 -1 known silent c.222 p.T74 0.005 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_OGR1_rcpt,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR68 HGNC ENSG00000119714 66 0 0 24 15 38.4615 CCDC88C 0 genome.wustl.edu 37 14 91804474 91804474 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 91804474 91804474 G A SNP CCDC88C ENST00000389857 human ensembl 74_37 -1 known missense c.925 p.R309C 0.994 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_Fum_Rdtase/Succ_DH_flav-like_C - no_errors CCDC88C HGNC ENSG00000015133 62 0 0 37 20 35.0877 BTBD7 0 genome.wustl.edu 37 14 93760464 93760464 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 93760464 93760464 T C SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.902 p.E301G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 87 0 0 37 28 43.0769 SERPINA1 0 genome.wustl.edu 37 14 94844961 94844961 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 94844961 94844961 A G SNP SERPINA1 ENST00000355814 human ensembl 74_37 -1 known missense c.1082 p.V361A 0.992 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA1 HGNC ENSG00000197249 72 0 0 38 3 7.31707 SYNE3 0 genome.wustl.edu 37 14 95921914 95921914 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 95921914 95921914 G A SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.937 p.R313C 0.434 smart_Spectrin/alpha-actinin pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 297 0 0 232 31 11.7871 ATG2B 0 genome.wustl.edu 37 14 96808017 96808017 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 96808017 96808017 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.766 p.P256S 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 126 0 0 87 7 7.44681 LRRK1 0 genome.wustl.edu 37 15 101528908 101528908 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 101528908 101528908 T C SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known missense c.503 p.V168A 0.591 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 227 0 0 124 39 23.9264 CHSY1 0 genome.wustl.edu 37 15 101718849 101718849 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 101718849 101718849 A G SNP CHSY1 ENST00000254190 human ensembl 74_37 -1 known missense c.1153 p.Y385H 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY1 HGNC ENSG00000131873 143 1 0.694444 94 11 10.4762 DNM1P47 0 genome.wustl.edu 37 15 102312899 102312899 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 102312899 102312899 T C SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.091 - - - no_errors DNM1P47 HGNC ENSG00000259660 37 0 0 8 9 52.9412 HERC2P3 0 genome.wustl.edu 37 15 20649666 20649666 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 20649666 20649666 G A SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 220 0 0 93 48 34.0426 OR4N4 0 genome.wustl.edu 37 15 22383083 22383083 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 22383083 22383083 G T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.611 p.G204V 0.101 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 149 0 0 76 22 22.449 NIPA1 0 genome.wustl.edu 37 15 23048972 23048972 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 23048972 23048972 A G SNP NIPA1 ENST00000337435 human ensembl 74_37 -1 known missense c.847 p.W283R 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA - no_errors NIPA1 HGNC ENSG00000170113 88 0 0 49 7 12.5 HERC2P2 0 genome.wustl.edu 37 15 23300064 23300064 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 23300064 23300064 C T SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors HERC2P2 HGNC ENSG00000140181 43 0 0 17 8 32 HERC2P2 0 genome.wustl.edu 37 15 23330123 23330123 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 23330123 23330123 C T SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 129 0 0 78 31 28.4404 HERC2P2 0 genome.wustl.edu 37 15 23331006 23331006 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 23331006 23331006 G A SNP HERC2P2 ENST00000560464 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P2 HGNC ENSG00000140181 46 0 0 22 6 21.4286 NPAP1 0 genome.wustl.edu 37 15 24921046 24921046 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 24921046 24921046 G A SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.32 p.G11E 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 30 0 0 7 5 41.6667 SNORD116-13 0 genome.wustl.edu 37 15 25324286 25324286 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 25324286 25324286 A G SNP SNORD116-13 ENST00000384408 human ensembl 74_37 +1 known rna NULL NULL 0.085 - - - no_errors SNORD116-13 HGNC ENSG00000207137 174 0 0 107 36 25.1748 SNORD116-16 0 genome.wustl.edu 37 15 25327982 25327982 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 25327982 25327982 C T SNP SNORD116-16 ENST00000384533 human ensembl 74_37 +1 known rna NULL NULL 0.104 - - - no_errors SNORD116-16 HGNC ENSG00000207263 284 1 0.350877 134 54 28.7234 SNHG14 0 genome.wustl.edu 37 15 25334977 25334977 + RNA SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 25334977 25334977 G C SNP SNHG14 ENST00000546682 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors SNHG14 HGNC ENSG00000224078 47 0 0 22 16 42.1053 HERC2 0 genome.wustl.edu 37 15 28366538 28366538 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 28366538 28366538 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.13226 p.V4409A 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 157 0 0 64 29 31.1828 HERC2 0 genome.wustl.edu 37 15 28386594 28386594 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 28386594 28386594 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.11999 p.V4000A 1.000 superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 103 0 0 40 20 33.3333 HERC2 0 genome.wustl.edu 37 15 28413568 28413568 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 28413568 28413568 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known nonsense c.10398 p.W3466* 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 346 0 0 163 55 25.2294 HERC2 0 genome.wustl.edu 37 15 28447491 28447491 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 28447491 28447491 A G SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known splice_site c.7480+2 e45+2 0.997 - - - no_errors HERC2 HGNC ENSG00000128731 96 0 0 58 6 9.375 HERC2 0 genome.wustl.edu 37 15 28511077 28511077 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 28511077 28511077 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known nonsense c.1642 p.Q548* 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 78 0 0 38 11 22.449 LOC101929232 0 genome.wustl.edu 37 15 29037118 29037118 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 29037118 29037118 C T SNP LOC101929232 ENST00000562423 human ensembl 74_37 +1 putative rna NULL NULL 0.996 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 45 0 0 25 6 19.3548 APBA2 0 genome.wustl.edu 37 15 29398920 29398920 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 29398920 29398920 G A SNP APBA2 ENST00000558259 human ensembl 74_37 +1 known silent c.1815 p.P605 0.026 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ 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 143 0 0 72 22 23.4043 OTUD7A 0 genome.wustl.edu 37 15 31776478 31776478 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 31776478 31776478 C T SNP OTUD7A ENST00000382902 human ensembl 74_37 -1 known silent c.1821 p.P607 0.001 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7A HGNC ENSG00000169918 24 0 0 2 5 71.4286 RYR3 0 genome.wustl.edu 37 15 33603275 33603275 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 33603275 33603275 A T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.29 p.D10V 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 48 0 0 16 12 42.8571 RYR3 0 genome.wustl.edu 37 15 33954568 33954568 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 33954568 33954568 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.4837 p.I1613V 1.000 NULL pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 37 0 0 19 3 13.6364 RYR3 0 genome.wustl.edu 37 15 33990089 33990089 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 33990089 33990089 A G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.6141 p.I2047M 0.997 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 179 0 0 91 26 22.2222 RYR3 0 genome.wustl.edu 37 15 34102718 34102718 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 34102718 34102718 G A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known silent c.10065 p.R3355 0.979 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 93 0 0 60 6 9.09091 ACTC1 0 genome.wustl.edu 37 15 35086915 35086915 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 35086915 35086915 A G SNP ACTC1 ENST00000290378 human ensembl 74_37 -1 known missense c.95 p.V32A 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTC1 HGNC ENSG00000159251 112 0 0 63 18 22.2222 FAM98B 0 genome.wustl.edu 37 15 38756237 38756237 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 38756237 38756237 A G SNP FAM98B ENST00000397609 human ensembl 74_37 +1 known missense c.76 p.K26E 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98B HGNC ENSG00000171262 63 0 0 49 4 7.54717 THBS1 0 genome.wustl.edu 37 15 39874866 39874866 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 39874866 39874866 C T SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known silent c.540 p.D180 0.019 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 96 0 0 45 24 34.7826 THBS1 0 genome.wustl.edu 37 15 39877747 39877747 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 39877747 39877747 G A SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.1103 p.C368Y 1.000 pfam_VWF_C,smart_VWF_C,pfscan_VWF_C pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 112 0 0 52 19 26.7606 DNAJC17 0 genome.wustl.edu 37 15 41068826 41068826 + Splice_Site SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 41068826 41068826 C T SNP DNAJC17 ENST00000220496 human ensembl 74_37 -1 known splice_site c.296-1 e5-1 1.000 - - - no_errors DNAJC17 HGNC ENSG00000104129 270 0 0 184 17 8.45771 RPAP1 0 genome.wustl.edu 37 15 41812933 41812933 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 41812933 41812933 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.3451 p.P1151S 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 145 1 0.684932 71 34 32.381 RPAP1 0 genome.wustl.edu 37 15 41817238 41817238 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 41817238 41817238 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.2026 p.R676C 0.981 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 106 0 0 53 25 32.0513 PLA2G4F 0 genome.wustl.edu 37 15 42442320 42442320 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 42442320 42442320 C A SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known missense c.905 p.S302I 0.040 smart_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 93 0 0 62 4 6.06061 LRRC57 0 genome.wustl.edu 37 15 42840347 42840347 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 42840347 42840347 C T SNP LRRC57 ENST00000323443 human ensembl 74_37 -1 known silent c.180 p.K60 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC57 HGNC ENSG00000180979 186 0 0 113 46 28.9308 CDAN1 0 genome.wustl.edu 37 15 43022951 43022951 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 43022951 43022951 G A SNP CDAN1 ENST00000356231 human ensembl 74_37 -1 known silent c.2019 p.V673 0.923 NULL NULL - no_errors CDAN1 HGNC ENSG00000140326 49 0 0 15 10 40 EPB42 0 genome.wustl.edu 37 15 43500866 43500866 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 43500866 43500866 G A SNP EPB42 ENST00000300215 human ensembl 74_37 -1 known nonsense c.1030 p.Q344* 0.875 pfam_Transglutaminase-like,smart_Transglutaminase-like pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors EPB42 HGNC ENSG00000166947 559 0 0 308 161 34.3284 TP53BP1 0 genome.wustl.edu 37 15 43724632 43724632 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 43724632 43724632 A G SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known silent c.3435 p.S1145 0.195 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 279 0 0 144 66 31.4286 PDIA3 0 genome.wustl.edu 37 15 44057709 44057709 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 44057709 44057709 T C SNP PDIA3 ENST00000300289 human ensembl 74_37 +1 known missense c.664 p.Y222H 0.858 superfamily_Thioredoxin-like_fold,tigrfam_Prot_disulphide_isomerase pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Prot_disulphide_isomerase,tigrfam_Disulphide_isomerase - no_errors PDIA3 HGNC ENSG00000167004 308 0 0 141 97 40.7563 CTDSPL2 0 genome.wustl.edu 37 15 44816478 44816478 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 44816478 44816478 G A SNP CTDSPL2 ENST00000559738 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors CTDSPL2 HGNC ENSG00000137770 39 0 0 9 3 25 SPG11 0 genome.wustl.edu 37 15 44944092 44944092 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 44944092 44944092 G C SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known missense c.1053 p.N351K 0.046 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 120 0 0 68 5 6.84932 DUOX2 0 genome.wustl.edu 37 15 45404884 45404884 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 45404884 45404884 A G SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.193 p.Y65H 0.999 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr,prints_Recoverin - no_errors DUOX2 HGNC ENSG00000140279 109 1 0.909091 64 22 25.5814 SLC28A2 0 genome.wustl.edu 37 15 45564563 45564563 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 45564563 45564563 T C SNP SLC28A2 ENST00000347644 human ensembl 74_37 +1 known silent c.1719 p.C573 1.000 pfam_Nucleos_tra2_C,tigrfam_C_nuclsd_transpt_met_bac pfam_Nucleos_tra2_C,pfam_Nuclsd_transpt2,pfam_Nucleoside_recog_Gate,tigrfam_C_nuclsd_transpt_met_bac - no_errors SLC28A2 HGNC ENSG00000137860 163 0 0 55 44 44.4444 BLOC1S6 0 genome.wustl.edu 37 15 45898717 45898717 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 45898717 45898717 T C SNP BLOC1S6 ENST00000563160 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors BLOC1S6 HGNC ENSG00000104164 252 0 0 177 22 11.0553 SLC12A1 0 genome.wustl.edu 37 15 48543836 48543836 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 48543836 48543836 A G SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.1811 p.Y604C 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 88 0 0 45 18 28.5714 COPS2 0 genome.wustl.edu 37 15 49447732 49447732 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 49447732 49447732 T C SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known missense c.44 p.D15G 1.000 NULL pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 96 0 0 70 4 5.40541 HDC 0 genome.wustl.edu 37 15 50540453 50540453 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 50540453 50540453 G C SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1129 p.H377D 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 60 0 0 48 8 14.2857 TRPM7 0 genome.wustl.edu 37 15 50888464 50888464 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 50888464 50888464 A G SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.3278 p.I1093T 1.000 pfam_Ion_trans_dom 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 27 0 0 20 6 23.0769 TRPM7 0 genome.wustl.edu 37 15 50899395 50899395 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 50899395 50899395 A G SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known splice_site c.2709+2 e20+2 1.000 - - - no_errors TRPM7 HGNC ENSG00000092439 68 0 0 41 4 8.88889 TRPM7 0 genome.wustl.edu 37 15 50931740 50931740 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 50931740 50931740 C T SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.541 p.A181T 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 TRPM7 HGNC ENSG00000092439 176 0 0 72 23 24.2105 AP4E1 0 genome.wustl.edu 37 15 51207723 51207723 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 51207723 51207723 G A SNP AP4E1 ENST00000261842 human ensembl 74_37 +1 known missense c.301 p.A101T 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 187 0 0 89 43 32.5758 DMXL2 0 genome.wustl.edu 37 15 51830437 51830437 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 51830437 51830437 G A SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.1318 p.R440W 1.000 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 230 0 0 163 53 24.537 DMXL2 0 genome.wustl.edu 37 15 51856325 51856325 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 51856325 51856325 C T SNP DMXL2 ENST00000543779 human ensembl 74_37 -1 known missense c.497 p.C166Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 172 0 0 111 34 23.4483 MYO5C 0 genome.wustl.edu 37 15 52563983 52563983 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 52563983 52563983 G A SNP MYO5C ENST00000261839 human ensembl 74_37 -1 known missense c.809 p.S270L 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,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 MYO5C HGNC ENSG00000128833 59 0 0 46 10 17.8571 UNC13C 0 genome.wustl.edu 37 15 54914556 54914556 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 54914556 54914556 A G SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.6138 p.I2046M 0.995 superfamily_C2_dom pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 160 0 0 120 11 8.39695 CCPG1 0 genome.wustl.edu 37 15 55664072 55664072 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 55664072 55664072 G A SNP CCPG1 ENST00000310958 human ensembl 74_37 -1 known missense c.625 p.R209C 0.465 NULL NULL - no_errors CCPG1 HGNC ENSG00000260916 147 0 0 90 5 5.26316 NEDD4 0 genome.wustl.edu 37 15 56207696 56207696 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 56207696 56207696 T C SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.1334 p.Q445R 0.993 NULL pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 194 0 0 103 43 29.4521 RFX7 0 genome.wustl.edu 37 15 56436621 56436621 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 56436621 56436621 C T SNP RFX7 ENST00000423270 human ensembl 74_37 -1 known missense c.256 p.G86S 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX7 HGNC ENSG00000181827 123 0 0 70 15 17.6471 ALDH1A2 0 genome.wustl.edu 37 15 58285217 58285217 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 58285217 58285217 C A SNP ALDH1A2 ENST00000249750 human ensembl 74_37 -1 known missense c.610 p.G204C 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH1A2 HGNC ENSG00000128918 129 0 0 101 6 5.60748 RNF111 0 genome.wustl.edu 37 15 59373220 59373220 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 59373220 59373220 G A SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known silent c.2034 p.P678 0.197 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 352 0 0 174 93 34.8315 TLN2 0 genome.wustl.edu 37 15 63055814 63055814 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 63055814 63055814 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.5014 p.R1672W 0.983 NULL pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 61 0 0 29 11 27.5 LACTB 0 genome.wustl.edu 37 15 63433782 63433782 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 63433782 63433782 T C SNP LACTB ENST00000261893 human ensembl 74_37 +1 known silent c.1422 p.G474 0.166 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 104 0 0 81 10 10.989 HERC1 0 genome.wustl.edu 37 15 63956768 63956768 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 63956768 63956768 T C SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.8581 p.N2861D 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 74 0 0 38 5 11.6279 DAPK2 0 genome.wustl.edu 37 15 64204153 64204153 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 64204153 64204153 G C SNP DAPK2 ENST00000261891 human ensembl 74_37 -1 known missense c.986 p.T329S 0.991 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,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 DAPK2 HGNC ENSG00000035664 47 0 0 17 6 26.087 SNX22 0 genome.wustl.edu 37 15 64446697 64446697 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 64446697 64446697 C A SNP SNX22 ENST00000325881 human ensembl 74_37 +1 known missense c.572 p.P191Q 0.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX22 HGNC ENSG00000157734 394 1 0.253165 217 87 28.6184 PARP16 0 genome.wustl.edu 37 15 65559078 65559078 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 65559078 65559078 G A SNP PARP16 ENST00000261888 human ensembl 74_37 -1 known missense c.341 p.A114V 0.000 pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP16 HGNC ENSG00000138617 79 0 0 45 9 16.6667 MAP2K1 0 genome.wustl.edu 37 15 66774157 66774157 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 66774157 66774157 C T SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known silent c.633 p.V211 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 MAP2K1 HGNC ENSG00000169032 205 0 0 85 34 28.5714 ENSG00000259347 0 genome.wustl.edu 37 15 67293313 67293313 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 67293313 67293313 C T SNP ENSG00000259347 ENST00000558097 human ensembl 74_37 -1 known rna NULL NULL 0.999 - - - no_errors RP11-798K3.2 Clone_based_vega_gene ENSG00000259347 25 0 0 20 5 20 SMAD3 0 genome.wustl.edu 37 15 67457298 67457298 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 67457298 67457298 T C SNP SMAD3 ENST00000327367 human ensembl 74_37 +1 known missense c.272 p.L91P 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,pfam_Interferon_reg_factor-3,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 SMAD3 HGNC ENSG00000166949 310 2 0.641026 151 69 31.3636 TLE3 0 genome.wustl.edu 37 15 70342461 70342461 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 70342461 70342461 G T SNP TLE3 ENST00000558939 human ensembl 74_37 -1 known missense c.2294 p.A765D 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance 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 TLE3 HGNC ENSG00000140332 215 0 0 113 30 20.979 UACA 0 genome.wustl.edu 37 15 70961720 70961720 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 70961720 70961720 A G SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.1303 p.S435P 0.005 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 163 0 0 94 6 6 UACA 0 genome.wustl.edu 37 15 70980154 70980154 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 70980154 70980154 C T SNP UACA ENST00000322954 human ensembl 74_37 -1 known missense c.430 p.A144T 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 122 0 0 42 21 33.3333 MYO9A 0 genome.wustl.edu 37 15 72192132 72192132 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 72192132 72192132 T C SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known missense c.3366 p.I1122M 0.954 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 149 0 0 47 34 41.9753 CD276 0 genome.wustl.edu 37 15 73994824 73994824 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 73994824 73994824 G A SNP CD276 ENST00000318443 human ensembl 74_37 +1 known missense c.308 p.G103D 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 73 0 0 42 21 33.3333 CD276 0 genome.wustl.edu 37 15 73995270 73995270 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 73995270 73995270 G A SNP CD276 ENST00000318443 human ensembl 74_37 +1 known silent c.576 p.T192 0.198 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD276 HGNC ENSG00000103855 106 0 0 50 30 37.5 CYP11A1 0 genome.wustl.edu 37 15 74635445 74635445 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 74635445 74635445 A G SNP CYP11A1 ENST00000268053 human ensembl 74_37 -1 known missense c.863 p.L288S 0.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_mitochondrial,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP11A1 HGNC ENSG00000140459 155 0 0 93 34 26.7717 ARID3B 0 genome.wustl.edu 37 15 74836635 74836635 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 74836635 74836635 A G SNP ARID3B ENST00000346246 human ensembl 74_37 +1 known missense c.358 p.K120E 0.978 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID3B HGNC ENSG00000179361 69 0 0 51 3 5.55556 CLK3 0 genome.wustl.edu 37 15 74922144 74922144 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 74922144 74922144 G A SNP CLK3 ENST00000395066 human ensembl 74_37 +1 known missense c.1837 p.E613K 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK3 HGNC ENSG00000179335 46 0 0 29 16 35.5556 CYP1A2 0 genome.wustl.edu 37 15 75047376 75047376 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 75047376 75047376 A G SNP CYP1A2 ENST00000343932 human ensembl 74_37 +1 known missense c.1498 p.K500E 1.000 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 129 0 0 68 29 29.8969 MAN2C1 0 genome.wustl.edu 37 15 75648756 75648756 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 75648756 75648756 G A SNP MAN2C1 ENST00000267978 human ensembl 74_37 -1 known silent c.2772 p.A924 0.999 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 31 0 0 9 10 52.6316 SCAPER 0 genome.wustl.edu 37 15 77134163 77134163 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 77134163 77134163 T C SNP SCAPER ENST00000324767 human ensembl 74_37 -1 known missense c.305 p.Y102C 1.000 NULL smart_Znf_U1 - no_errors SCAPER HGNC ENSG00000140386 101 0 0 52 32 38.0952 PSTPIP1 0 genome.wustl.edu 37 15 77310814 77310814 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 77310814 77310814 C T SNP PSTPIP1 ENST00000559785 human ensembl 74_37 +1 known missense c.349 p.R117W 0.985 pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom pfam_FCH_dom,superfamily_Prismane-like,smart_FCH_dom,pfscan_FCH_dom - no_errors PSTPIP1 HGNC ENSG00000140368 11 0 0 3 3 50 LINGO1 0 genome.wustl.edu 37 15 77906403 77906403 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 77906403 77906403 T C SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.1846 p.N616D 1.000 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 27 0 0 7 4 36.3636 CHRNA5 0 genome.wustl.edu 37 15 78873306 78873306 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 78873306 78873306 T C SNP CHRNA5 ENST00000299565 human ensembl 74_37 +1 known splice_site c.258+2 e2+2 1.000 - - - no_errors CHRNA5 HGNC ENSG00000169684 213 0 0 114 47 29.1925 CHRNB4 0 genome.wustl.edu 37 15 78923514 78923514 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 78923514 78923514 T C SNP CHRNB4 ENST00000261751 human ensembl 74_37 -1 known missense c.263 p.Y88C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,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 CHRNB4 HGNC ENSG00000117971 132 0 0 99 9 8.33333 ADAMTS7 0 genome.wustl.edu 37 15 79058757 79058757 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 79058757 79058757 C T SNP ADAMTS7 ENST00000388820 human ensembl 74_37 -1 known missense c.3496 p.A1166T 0.055 NULL pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS7 HGNC ENSG00000136378 49 0 0 19 15 44.1176 MESDC2 0 genome.wustl.edu 37 15 81282061 81282061 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 81282061 81282061 T C SNP MESDC2 ENST00000261758 human ensembl 74_37 -1 known silent c.72 p.L24 1.000 NULL pfam_Mesoderm_development_cand-2 - no_errors MESDC2 HGNC ENSG00000117899 89 0 0 31 9 22.5 BNC1 0 genome.wustl.edu 37 15 83933080 83933080 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 83933080 83933080 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known missense c.923 p.P308L 0.979 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 185 0 0 89 31 25.8333 GOLGA6L5 0 genome.wustl.edu 37 15 85053127 85053127 + RNA SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 85053127 85053127 T G SNP GOLGA6L5 ENST00000414190 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 12 0 0 11 5 31.25 GOLGA6L5 0 genome.wustl.edu 37 15 85053137 85053137 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 85053137 85053137 C T SNP GOLGA6L5 ENST00000414190 human ensembl 74_37 -1 known rna NULL NULL 0.120 - - - no_errors GOLGA6L5 HGNC ENSG00000230373 11 0 0 11 5 31.25 PDE8A 0 genome.wustl.edu 37 15 85666327 85666327 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 85666327 85666327 A G SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.1988 p.D663G 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 136 0 0 98 12 10.9091 AKAP13 0 genome.wustl.edu 37 15 86278287 86278287 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 86278287 86278287 C T SNP AKAP13 ENST00000361243 human ensembl 74_37 +1 known silent c.7359 p.S2453 0.488 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors AKAP13 HGNC ENSG00000170776 489 0 0 269 131 32.75 RLBP1 0 genome.wustl.edu 37 15 89758315 89758315 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 89758315 89758315 T C SNP RLBP1 ENST00000268125 human ensembl 74_37 -1 known silent c.501 p.Q167 0.983 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_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 238 0 0 128 26 16.8831 POLG 0 genome.wustl.edu 37 15 89870444 89870444 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 89870444 89870444 A G SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.1387 p.L463 0.971 pirsf_DNA-dir_DNA_pol_A_mt_sub pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 233 0 0 150 15 9.09091 TICRR 0 genome.wustl.edu 37 15 90169244 90169244 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 90169244 90169244 C T SNP TICRR ENST00000268138 human ensembl 74_37 +1 known silent c.5554 p.L1852 0.997 NULL NULL - no_errors TICRR HGNC ENSG00000140534 107 0 0 69 25 26.5957 FURIN 0 genome.wustl.edu 37 15 91423207 91423207 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 91423207 91423207 G A SNP FURIN ENST00000268171 human ensembl 74_37 +1 known missense c.1369 p.E457K 0.993 superfamily_Galactose-bd-like 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 66 0 0 38 14 26.9231 FURIN 0 genome.wustl.edu 37 15 91424194 91424194 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 91424194 91424194 C T SNP FURIN ENST00000268171 human ensembl 74_37 +1 known silent c.1716 p.G572 1.000 superfamily_Galactose-bd-like 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 237 0 0 178 10 5.31915 ST8SIA2 0 genome.wustl.edu 37 15 92973323 92973323 + Nonsense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 92973323 92973323 T A SNP ST8SIA2 ENST00000268164 human ensembl 74_37 +1 known nonsense c.143 p.L48* 1.000 pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA2 HGNC ENSG00000140557 99 0 0 44 26 37.1429 IGF1R 0 genome.wustl.edu 37 15 99467785 99467785 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 99467785 99467785 A G SNP IGF1R ENST00000268035 human ensembl 74_37 +1 known missense c.2654 p.Y885C 1.000 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_Growth_fac_rcpt_N_dom,superfamily_Fibronectin_type3,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 IGF1R HGNC ENSG00000140443 350 0 0 232 20 7.93651 CIITA 0 genome.wustl.edu 37 16 10989150 10989150 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 10989150 10989150 T C SNP CIITA ENST00000324288 human ensembl 74_37 +1 known missense c.64 p.C22R 0.004 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 101 0 0 49 25 33.7838 CLEC16A 0 genome.wustl.edu 37 16 11214490 11214490 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 11214490 11214490 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known missense c.2135 p.A712V 0.990 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 49 0 0 27 14 34.1463 BAIAP3 0 genome.wustl.edu 37 16 1394107 1394107 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 1394107 1394107 A G SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known missense c.1576 p.T526A 0.993 NULL pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 106 0 0 44 20 31.25 BAIAP3 0 genome.wustl.edu 37 16 1397758 1397758 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 1397758 1397758 G A SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.3066 p.A1022 0.270 superfamily_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 66 0 0 38 4 9.52381 ERCC4 0 genome.wustl.edu 37 16 14026125 14026125 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 14026125 14026125 A G SNP ERCC4 ENST00000311895 human ensembl 74_37 +1 known missense c.1085 p.E362G 0.208 tigrfam_Rad1 pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_ERCC4_domain,tigrfam_Rad1 - no_errors ERCC4 HGNC ENSG00000175595 196 0 0 134 9 6.29371 CLCN7 0 genome.wustl.edu 37 16 1510448 1510448 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 1510448 1510448 C T SNP CLCN7 ENST00000382745 human ensembl 74_37 -1 known missense c.565 p.V189M 0.970 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core,prints_Cl_channel-7 pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-7 - no_errors CLCN7 HGNC ENSG00000103249 129 0 0 83 28 25.2252 PKD1P6 0 genome.wustl.edu 37 16 15224525 15224525 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 15224525 15224525 T C SNP PKD1P6 ENST00000424133 human ensembl 74_37 -1 known rna NULL NULL 0.966 - - - no_errors PKD1P6 HGNC ENSG00000250251 69 0 0 21 17 44.7368 NDE1 0 genome.wustl.edu 37 16 15785075 15785075 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 15785075 15785075 G A SNP NDE1 ENST00000396353 human ensembl 74_37 +1 known missense c.598 p.E200K 0.628 pfam_NUDE_C pfam_NUDE_C - no_errors NDE1 HGNC ENSG00000072864 105 0 0 45 26 36.6197 EME2 0 genome.wustl.edu 37 16 1825690 1825690 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 1825690 1825690 G A SNP EME2 ENST00000307394 human ensembl 74_37 +1 known missense c.937 p.V313M 0.053 pfam_ERCC4_domain,smart_ERCC4_domain pfam_ERCC4_domain,smart_ERCC4_domain - no_errors EME2 HGNC ENSG00000197774 164 0 0 85 34 28.5714 SMG1 0 genome.wustl.edu 37 16 18856807 18856807 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 18856807 18856807 G A SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known silent c.6163 p.L2055 0.991 superfamily_Kinase-like_dom,superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 103 0 0 54 29 34.9398 C16orf62 0 genome.wustl.edu 37 16 19590354 19590354 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 19590354 19590354 C T SNP C16orf62 ENST00000448695 human ensembl 74_37 +1 known silent c.48 p.D16 0.044 NULL NULL - no_errors C16orf62 HGNC ENSG00000103544 43 0 0 20 12 37.5 ACSM2A 0 genome.wustl.edu 37 16 20491953 20491953 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 20491953 20491953 G C SNP ACSM2A ENST00000219054 human ensembl 74_37 +1 known missense c.1340 p.R447P 0.996 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2A HGNC ENSG00000183747 270 0 0 154 28 15.3846 ACSM2B 0 genome.wustl.edu 37 16 20554526 20554526 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 20554526 20554526 C G SNP ACSM2B ENST00000329697 human ensembl 74_37 -1 known missense c.1340 p.R447P 0.998 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSM2B HGNC ENSG00000066813 457 0 0 274 46 14.375 SLC9A3R2 0 genome.wustl.edu 37 16 2086386 2086386 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 2086386 2086386 A G SNP SLC9A3R2 ENST00000424542 human ensembl 74_37 +1 known missense c.476 p.Q159R 0.884 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ - no_errors SLC9A3R2 HGNC ENSG00000065054 30 0 0 10 5 33.3333 DNAH3 0 genome.wustl.edu 37 16 21123335 21123335 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 21123335 21123335 A G SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known silent c.1899 p.H633 0.971 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 60 0 0 28 15 34.8837 TMEM159 0 genome.wustl.edu 37 16 21181777 21181777 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 21181777 21181777 C T SNP TMEM159 ENST00000573487 human ensembl 74_37 +1 known missense c.188 p.S63F 1.000 NULL NULL - no_errors TMEM159 HGNC ENSG00000011638 424 0 0 276 20 6.75676 ZP2 0 genome.wustl.edu 37 16 21213112 21213112 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 21213112 21213112 T C SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known silent c.1419 p.L473 0.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 245 0 0 137 62 31.1558 PKD1 0 genome.wustl.edu 37 16 2156476 2156476 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 2156476 2156476 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.7412 p.P2471L 0.997 pfam_PKD/REJ-like,pfscan_REJ-like,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 18 0 0 12 8 40 METTL9 0 genome.wustl.edu 37 16 21611071 21611071 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 21611071 21611071 G A SNP METTL9 ENST00000358154 human ensembl 74_37 +1 known missense c.17 p.G6D 0.979 NULL pfam_DREV_MeTrfase,pfam_Methyltransf_12,pfam_Methyltransf_11 - no_errors METTL9 HGNC ENSG00000197006 13 0 0 7 6 46.1538 PKD1 0 genome.wustl.edu 37 16 2161268 2161268 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 2161268 2161268 T C SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known silent c.3900 p.E1300 0.987 smart_PKD/Chitinase_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 49 0 0 20 14 41.1765 HBM 0 genome.wustl.edu 37 16 216278 216278 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 216278 216278 T C SNP HBM ENST00000356815 human ensembl 74_37 +1 known missense c.104 p.V35A 0.000 pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Haemoglobin_a - no_errors HBM HGNC ENSG00000206177 30 0 0 15 7 31.8182 RRN3P1 0 genome.wustl.edu 37 16 21823606 21823606 + Splice_Site SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 21823606 21823606 C T SNP RRN3P1 ENST00000551681 human ensembl 74_37 -1 known splice_site c.NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 38 0 0 20 5 20 TRAF7 0 genome.wustl.edu 37 16 2222242 2222242 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 2222242 2222242 G A SNP TRAF7 ENST00000326181 human ensembl 74_37 +1 known missense c.526 p.A176T 0.984 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_TRAF-like,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_Znf_TRAF,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TRAF7 HGNC ENSG00000131653 70 0 0 31 11 26.1905 EEF2K 0 genome.wustl.edu 37 16 22271788 22271788 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 22271788 22271788 C T SNP EEF2K ENST00000263026 human ensembl 74_37 +1 known missense c.1237 p.P413S 1.000 pirsf_Elongation_factor_2_kinase pfam_MHCK_EF2_kinase,pfam_Sel1-like,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pirsf_Elongation_factor_2_kinase,pfscan_MHCK_EF2_kinase - no_errors EEF2K HGNC ENSG00000103319 302 0 0 170 72 29.7521 DNASE1L2 0 genome.wustl.edu 37 16 2287970 2287970 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 2287970 2287970 C T SNP DNASE1L2 ENST00000320700 human ensembl 74_37 +1 known missense c.794 p.S265L 0.215 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,pirsf_DNase_I,prints_DNase_I - no_errors DNASE1L2 HGNC ENSG00000167968 29 0 0 10 6 37.5 RBBP6 0 genome.wustl.edu 37 16 24580095 24580095 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 24580095 24580095 A G SNP RBBP6 ENST00000319715 human ensembl 74_37 +1 known missense c.2084 p.Y695C 1.000 NULL pfam_DWNN_domain,pfam_Ubox_domain,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_CCHC - no_errors RBBP6 HGNC ENSG00000122257 136 0 0 55 20 26.6667 KDM8 0 genome.wustl.edu 37 16 27226316 27226316 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 27226316 27226316 A G SNP KDM8 ENST00000441782 human ensembl 74_37 +1 known missense c.899 p.Y300C 0.999 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM8 HGNC ENSG00000155666 127 1 0.78125 80 5 5.88235 IL4R 0 genome.wustl.edu 37 16 27374927 27374927 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 27374927 27374927 T C SNP IL4R ENST00000170630 human ensembl 74_37 +1 known missense c.2254 p.S752P 0.000 NULL pfam_IL-4_rcpt-alpha_N,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL4R HGNC ENSG00000077238 106 1 0.934579 45 18 28.5714 GTF3C1 0 genome.wustl.edu 37 16 27473658 27473658 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 27473658 27473658 T C SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.6074 p.Y2025C 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 17 0 0 6 3 33.3333 GTF3C1 0 genome.wustl.edu 37 16 27475947 27475947 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 27475947 27475947 T C SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5566 p.S1856G 0.001 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 204 0 0 115 14 10.8527 GTF3C1 0 genome.wustl.edu 37 16 27499707 27499707 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 27499707 27499707 C T SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.3541 p.A1181T 0.002 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 383 0 0 184 88 32.3529 KIAA0556 0 genome.wustl.edu 37 16 27629755 27629755 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 27629755 27629755 A G SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known missense c.73 p.K25E 1.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 125 0 0 100 9 8.25688 GSG1L 0 genome.wustl.edu 37 16 27818823 27818823 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 27818823 27818823 C T SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.883 p.E295K 0.961 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 31 0 0 19 6 24 SULT1A1 0 genome.wustl.edu 37 16 28619888 28619888 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 28619888 28619888 T C SNP SULT1A1 ENST00000314752 human ensembl 74_37 -1 known missense c.185 p.Y62C 0.903 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1A1 HGNC ENSG00000196502 86 0 0 49 11 18.3333 SPNS1 0 genome.wustl.edu 37 16 28995116 28995116 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 28995116 28995116 C T SNP SPNS1 ENST00000311008 human ensembl 74_37 +1 known missense c.1330 p.R444C 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SPNS1 HGNC ENSG00000169682 232 0 0 122 32 20.7792 FLYWCH1 0 genome.wustl.edu 37 16 2979777 2979777 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 2979777 2979777 G A SNP FLYWCH1 ENST00000399667 human ensembl 74_37 +1 known missense c.91 p.A31T 0.003 NULL pfam_Znf_FLYWCH - no_errors FLYWCH1 HGNC ENSG00000059122 84 0 0 44 12 21.4286 MAZ 0 genome.wustl.edu 37 16 29819116 29819116 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 29819116 29819116 A G SNP MAZ ENST00000219782 human ensembl 74_37 +1 known missense c.1010 p.Y337C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors MAZ HGNC ENSG00000103495 90 0 0 81 6 6.89655 SEZ6L2 0 genome.wustl.edu 37 16 29910333 29910333 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 29910333 29910333 G A SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.8 p.T3I 1.000 NULL pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 41 0 0 13 12 48 TAOK2 0 genome.wustl.edu 37 16 29999030 29999030 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 29999030 29999030 T C SNP TAOK2 ENST00000308893 human ensembl 74_37 +1 known missense c.3437 p.L1146P 0.002 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 TAOK2 HGNC ENSG00000149930 192 1 0.518135 104 16 13.3333 HIRIP3 0 genome.wustl.edu 37 16 30004857 30004857 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 30004857 30004857 C T SNP HIRIP3 ENST00000279392 human ensembl 74_37 -1 known missense c.1430 p.C477Y 1.000 NULL pfam_Histone_chaperone_domain_CHZ - no_errors HIRIP3 HGNC ENSG00000149929 144 0 0 94 6 6 INO80E 0 genome.wustl.edu 37 16 30012832 30012832 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 30012832 30012832 G A SNP INO80E ENST00000563197 human ensembl 74_37 +1 known missense c.494 p.R165H 1.000 NULL NULL - no_errors INO80E HGNC ENSG00000169592 41 0 0 26 10 27.7778 DOC2A 0 genome.wustl.edu 37 16 30018259 30018259 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 30018259 30018259 G A SNP DOC2A ENST00000350119 human ensembl 74_37 -1 known missense c.725 p.A242V 0.230 pirsf_Doc2 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pirsf_Doc2,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors DOC2A HGNC ENSG00000149927 51 0 0 24 12 33.3333 PPP4C 0 genome.wustl.edu 37 16 30096053 30096053 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 30096053 30096053 A G SNP PPP4C ENST00000279387 human ensembl 74_37 +1 known missense c.671 p.Q224R 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP4C HGNC ENSG00000149923 276 0 0 142 64 31.068 ZNF646 0 genome.wustl.edu 37 16 31091576 31091576 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 31091576 31091576 G A SNP ZNF646 ENST00000300850 human ensembl 74_37 +1 known missense c.3931 p.A1311T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 52 0 0 31 20 39.2157 BCKDK 0 genome.wustl.edu 37 16 31122443 31122443 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 31122443 31122443 C T SNP BCKDK ENST00000219794 human ensembl 74_37 +1 known missense c.748 p.P250S 1.000 superfamily_HATPase_ATP-bd pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core,prints_Sig_transdc_His_kin-like_C - no_errors BCKDK HGNC ENSG00000103507 135 0 0 63 26 29.2135 PYCARD 0 genome.wustl.edu 37 16 31213142 31213142 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 31213142 31213142 G T SNP PYCARD ENST00000247470 human ensembl 74_37 -1 known missense c.352 p.H118N 0.937 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_CARD,pfscan_DAPIN - no_errors PYCARD HGNC ENSG00000103490 104 1 0.952381 55 23 29.4872 DNASE1 0 genome.wustl.edu 37 16 3707217 3707217 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 3707217 3707217 G A SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known silent c.579 p.A193 0.003 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 192 0 0 91 46 33.5766 TRAP1 0 genome.wustl.edu 37 16 3721726 3721726 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 3721726 3721726 A T SNP TRAP1 ENST00000246957 human ensembl 74_37 -1 known missense c.1232 p.I411N 1.000 pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Hsp90_fam 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 52 0 0 32 3 8.57143 CREBBP 0 genome.wustl.edu 37 16 3820608 3820608 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 3820608 3820608 T C SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.2843 p.Q948R 1.000 NULL 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 448 1 0.222717 242 83 25.5385 MRPL28 0 genome.wustl.edu 37 16 418359 418359 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 418359 418359 G A SNP MRPL28 ENST00000199706 human ensembl 74_37 -1 known missense c.632 p.A211V 1.000 NULL NULL - no_errors MRPL28 HGNC ENSG00000086504 224 1 0.444444 85 52 37.9562 TFAP4 0 genome.wustl.edu 37 16 4312644 4312644 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4312644 4312644 G A SNP TFAP4 ENST00000204517 human ensembl 74_37 -1 known missense c.148 p.R50W 0.622 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TFAP4 HGNC ENSG00000090447 170 0 0 80 48 37.5 CORO7-PAM16 0 genome.wustl.edu 37 16 4411442 4411442 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4411442 4411442 G A SNP CORO7-PAM16 ENST00000572467 human ensembl 74_37 -1 known missense c.1607 p.T536M 0.945 smart_WD40_repeat pfam_DUF1900,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO7-PAM16 HGNC ENSG00000103426 131 0 0 68 31 31.3131 ABCC12 0 genome.wustl.edu 37 16 48173146 48173146 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 48173146 48173146 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.759 p.A253 0.070 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC12 HGNC ENSG00000140798 191 0 0 72 47 39.4958 ABCC11 0 genome.wustl.edu 37 16 48250029 48250029 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 48250029 48250029 A C SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known missense c.947 p.L316R 0.829 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 277 2 0.716846 114 52 31.3253 GLYR1 0 genome.wustl.edu 37 16 4895126 4895126 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4895126 4895126 T C SNP GLYR1 ENST00000321919 human ensembl 74_37 -1 known missense c.104 p.K35R 1.000 pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 274 0 0 198 16 7.47664 PPL 0 genome.wustl.edu 37 16 4933690 4933690 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4933690 4933690 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.4966 p.R1656C 1.000 smart_Plectin_repeat pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 88 0 0 61 21 25.6098 PPL 0 genome.wustl.edu 37 16 4940785 4940785 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4940785 4940785 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known silent c.2106 p.A702 0.002 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 30 0 0 10 9 47.3684 NOD2 0 genome.wustl.edu 37 16 50733415 50733415 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 50733415 50733415 G A SNP NOD2 ENST00000300589 human ensembl 74_37 +1 known silent c.90 p.S30 0.002 pfscan_CARD pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD2 HGNC ENSG00000167207 510 1 0.195695 225 115 33.8235 CHD9 0 genome.wustl.edu 37 16 53358048 53358048 + Silent SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 53358048 53358048 A T SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known silent c.7935 p.A2645 0.097 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 280 0 0 118 39 24.8408 RPGRIP1L 0 genome.wustl.edu 37 16 53639350 53639350 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 53639350 53639350 G A SNP RPGRIP1L ENST00000564374 human ensembl 74_37 -1 putative missense c.3740 p.A1247V 0.003 NULL pfam_DUF3250,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RPGRIP1L HGNC ENSG00000103494 117 0 0 68 4 5.55556 LPCAT2 0 genome.wustl.edu 37 16 55562369 55562369 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 55562369 55562369 A C SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.392 p.K131T 0.548 pfam_Plipid/glycerol_acylTrfase pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 174 0 0 85 46 35.1145 SLC6A2 0 genome.wustl.edu 37 16 55705925 55705925 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 55705925 55705925 A T SNP SLC6A2 ENST00000219833 human ensembl 74_37 +1 known missense c.482 p.Y161F 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_noradrenaline - no_errors SLC6A2 HGNC ENSG00000103546 104 0 0 40 17 29.8246 AMFR 0 genome.wustl.edu 37 16 56437005 56437005 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 56437005 56437005 A G SNP AMFR ENST00000290649 human ensembl 74_37 -1 known missense c.866 p.M289T 1.000 NULL pfam_CUE,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_CUE,pfscan_CUE,pfscan_Znf_RING - no_errors AMFR HGNC ENSG00000159461 150 0 0 123 18 12.766 BBS2 0 genome.wustl.edu 37 16 56545131 56545131 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 56545131 56545131 A G SNP BBS2 ENST00000245157 human ensembl 74_37 -1 known silent c.411 p.I137 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 228 0 0 151 20 11.6959 HERPUD1 0 genome.wustl.edu 37 16 56975935 56975935 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 56975935 56975935 A G SNP HERPUD1 ENST00000568814 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HERPUD1 HGNC ENSG00000051108 60 0 0 32 8 20 CX3CL1 0 genome.wustl.edu 37 16 57416777 57416777 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 57416777 57416777 G A SNP CX3CL1 ENST00000006053 human ensembl 74_37 +1 known missense c.1027 p.V343M 0.876 prints_Chemokine_CX3CL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 133 0 0 58 28 32.5581 KATNB1 0 genome.wustl.edu 37 16 57778313 57778313 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 57778313 57778313 C T SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.179 p.T60M 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 97 0 0 31 15 32.6087 KATNB1 0 genome.wustl.edu 37 16 57785608 57785608 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 57785608 57785608 C T SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.488 p.A163V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 120 0 0 62 27 30.3371 MMP15 0 genome.wustl.edu 37 16 58072273 58072273 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 58072273 58072273 T C SNP MMP15 ENST00000219271 human ensembl 74_37 +1 known missense c.415 p.W139R 1.000 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,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 MMP15 HGNC ENSG00000102996 194 1 0.512821 123 17 12.1429 CAPN15 0 genome.wustl.edu 37 16 597238 597238 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 597238 597238 C G SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.400 p.Q134E 0.031 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 14 0 0 5 2 28.5714 CAPN15 0 genome.wustl.edu 37 16 601649 601649 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 601649 601649 A G SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.2330 p.Y777C 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 92 0 0 58 6 9.375 RRAD 0 genome.wustl.edu 37 16 66957424 66957424 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 66957424 66957424 A G SNP RRAD ENST00000299759 human ensembl 74_37 -1 known missense c.644 p.V215A 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,tigrfam_Small_GTP-bd_dom 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 175 0 0 105 6 5.40541 CES2 0 genome.wustl.edu 37 16 66974153 66974153 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 66974153 66974153 T C SNP CES2 ENST00000317091 human ensembl 74_37 +1 known missense c.644 p.L215P 0.064 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES2 HGNC ENSG00000172831 134 0 0 90 9 9.09091 CBFB 0 genome.wustl.edu 37 16 67100670 67100670 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67100670 67100670 G A SNP CBFB ENST00000290858 human ensembl 74_37 +1 known missense c.368 p.G123D 1.000 pfam_CBF_beta,superfamily_CBF_beta pfam_CBF_beta,superfamily_CBF_beta - no_errors CBFB HGNC ENSG00000067955 87 0 0 75 18 19.3548 PLEKHG4 0 genome.wustl.edu 37 16 67320812 67320812 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67320812 67320812 G A SNP PLEKHG4 ENST00000360461 human ensembl 74_37 +1 known missense c.2915 p.R972H 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4 HGNC ENSG00000196155 220 0 0 118 48 28.9157 FAM65A 0 genome.wustl.edu 37 16 67576357 67576357 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67576357 67576357 T C SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known silent c.1728 p.I576 0.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 990 0 0 795 58 6.79953 TSNAXIP1 0 genome.wustl.edu 37 16 67861174 67861174 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67861174 67861174 C A SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.1525 p.P509T 1.000 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 90 0 0 50 19 27.5362 EDC4 0 genome.wustl.edu 37 16 67914024 67914024 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67914024 67914024 A G SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.2002 p.S668G 1.000 NULL superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 68 0 0 29 15 34.0909 PSKH1 0 genome.wustl.edu 37 16 67942930 67942930 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67942930 67942930 G A SNP PSKH1 ENST00000291041 human ensembl 74_37 +1 known missense c.278 p.R93H 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 PSKH1 HGNC ENSG00000159792 69 0 0 37 26 41.2698 DUS2 0 genome.wustl.edu 37 16 68100478 68100478 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 68100478 68100478 A G SNP DUS2 ENST00000358896 human ensembl 74_37 +1 known missense c.493 p.T165A 1.000 pfam_tRNA_hU_synthase pfam_tRNA_hU_synthase,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom - no_errors DUS2 HGNC ENSG00000167264 458 0 0 339 37 9.84043 SLC7A6OS 0 genome.wustl.edu 37 16 68337993 68337993 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 68337993 68337993 G A SNP SLC7A6OS ENST00000263997 human ensembl 74_37 -1 known missense c.614 p.T205M 0.327 NULL NULL - no_errors SLC7A6OS HGNC ENSG00000103061 181 0 0 79 58 42.3358 NFAT5 0 genome.wustl.edu 37 16 69725814 69725814 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 69725814 69725814 A G SNP NFAT5 ENST00000432919 human ensembl 74_37 +1 known missense c.2086 p.I696V 1.000 NULL pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFAT5 HGNC ENSG00000102908 165 1 0.60241 109 11 9.16667 DDX19B 0 genome.wustl.edu 37 16 70359507 70359507 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 70359507 70359507 G A SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known missense c.523 p.A175T 0.985 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 197 0 0 121 8 6.20155 ST3GAL2 0 genome.wustl.edu 37 16 70422372 70422372 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 70422372 70422372 C A SNP ST3GAL2 ENST00000342907 human ensembl 74_37 -1 known missense c.611 p.S204I 1.000 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL2 HGNC ENSG00000157350 297 2 0.668896 157 65 29.2793 PHLPP2 0 genome.wustl.edu 37 16 71678722 71678722 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 71678722 71678722 G A SNP PHLPP2 ENST00000360429 human ensembl 74_37 -1 known missense c.2854 p.P952S 0.000 NULL pfam_Leu-rich_rpt,pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp - no_errors PHLPP2 HGNC ENSG00000040199 43 0 0 21 7 25 TXNL4B 0 genome.wustl.edu 37 16 72122889 72122889 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 72122889 72122889 T C SNP TXNL4B ENST00000268483 human ensembl 74_37 -1 known missense c.281 p.Y94C 1.000 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 pfam_mRNA_splic_U5,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,pirsf_mRNA_splic_U5 - no_errors TXNL4B HGNC ENSG00000140830 229 0 0 113 43 27.5641 ZFHX3 0 genome.wustl.edu 37 16 72829354 72829354 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 72829354 72829354 A G SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known silent c.7227 p.L2409 0.701 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 230 2 0.862069 87 43 33.0769 RBFOX1 0 genome.wustl.edu 37 16 7383041 7383041 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 7383041 7383041 C T SNP RBFOX1 ENST00000311745 human ensembl 74_37 +1 known silent c.39 p.G13 0.998 NULL pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_RNA-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX1 HGNC ENSG00000078328 247 0 0 125 43 25.5952 WDR24 0 genome.wustl.edu 37 16 739346 739346 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 739346 739346 C T SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known missense c.481 p.V161M 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 51 0 0 37 6 13.9535 PSMD7 0 genome.wustl.edu 37 16 74330861 74330861 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 74330861 74330861 C T SNP PSMD7 ENST00000219313 human ensembl 74_37 +1 known missense c.49 p.L17F 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors PSMD7 HGNC ENSG00000103035 65 0 0 27 4 12.9032 FA2H 0 genome.wustl.edu 37 16 74753037 74753037 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 74753037 74753037 T A SNP FA2H ENST00000219368 human ensembl 74_37 -1 known missense c.635 p.K212M 0.886 pirsf_Ino-phos-ceramide-B_Hydrxlase pfam_Fatty_acid_hydroxylase,pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pirsf_Ino-phos-ceramide-B_Hydrxlase,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors FA2H HGNC ENSG00000103089 98 0 0 54 7 11.4754 CNTNAP4 0 genome.wustl.edu 37 16 76481946 76481946 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 76481946 76481946 T C SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known silent c.573 p.L191 0.990 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G 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 CNTNAP4 HGNC ENSG00000152910 114 0 0 47 23 32.8571 CNTNAP4 0 genome.wustl.edu 37 16 76573730 76573730 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 76573730 76573730 A C SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.3332 p.E1111A 0.917 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 CNTNAP4 HGNC ENSG00000152910 155 0 0 90 28 23.7288 MAF 0 genome.wustl.edu 37 16 79632969 79632969 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 79632969 79632969 C T SNP MAF ENST00000326043 human ensembl 74_37 -1 known silent c.831 p.Q277 1.000 pfam_bZIP_Maf,superfamily_TF_DNA-bd pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAF HGNC ENSG00000178573 29 0 0 21 5 19.2308 MAF 0 genome.wustl.edu 37 16 79633642 79633642 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 79633642 79633642 C T SNP MAF ENST00000326043 human ensembl 74_37 -1 known missense c.158 p.G53D 1.000 NULL pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAF HGNC ENSG00000178573 65 0 0 25 15 37.5 ATMIN 0 genome.wustl.edu 37 16 81078385 81078385 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 81078385 81078385 A G SNP ATMIN ENST00000299575 human ensembl 74_37 +1 known missense c.2282 p.N761S 0.998 NULL smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 149 0 0 125 7 5.30303 PKD1L2 0 genome.wustl.edu 37 16 81209311 81209311 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 81209311 81209311 A G SNP PKD1L2 ENST00000337114 human ensembl 74_37 -1 known missense c.2482 p.Y828H 1.000 pfam_PKD/REJ-like,superfamily_Coatomer/clathrin_app_Ig-like,pfscan_REJ-like pfam_Lectin_gal-bd_dom,pfam_C-type_lectin,pfam_PKD/REJ-like,superfamily_C-type_lectin_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_PKD_dom,smart_C-type_lectin,pfscan_C-type_lectin,pfscan_Lectin_gal-bd_dom,pfscan_REJ-like - no_errors PKD1L2 HGNC ENSG00000166473 137 0 0 83 29 25.8929 BCMO1 0 genome.wustl.edu 37 16 81293316 81293316 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 81293316 81293316 G A SNP BCMO1 ENST00000258168 human ensembl 74_37 +1 known missense c.229 p.D77N 1.000 pfam_Carotenoid_Oase pfam_Carotenoid_Oase - no_errors BCMO1 HGNC ENSG00000135697 154 0 0 79 41 34.1667 TAF1C 0 genome.wustl.edu 37 16 84218572 84218572 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 84218572 84218572 C T SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.23 p.R8H 0.031 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 61 0 0 26 10 27.7778 ADAD2 0 genome.wustl.edu 37 16 84224941 84224941 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 84224941 84224941 A G SNP ADAD2 ENST00000268624 human ensembl 74_37 +1 known silent c.105 p.L35 0.000 NULL pfam_A_deamin,pfam_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD2 HGNC ENSG00000140955 42 0 0 23 4 14.8148 CHTF18 0 genome.wustl.edu 37 16 843186 843186 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 843186 843186 G A SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known missense c.2284 p.V762M 0.998 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 26 0 0 9 12 57.1429 KLHL36 0 genome.wustl.edu 37 16 84695605 84695605 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 84695605 84695605 G A SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known missense c.1717 p.D573N 0.058 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 24 0 0 2 3 60 CHTF18 0 genome.wustl.edu 37 16 847005 847005 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 847005 847005 T C SNP CHTF18 ENST00000317063 human ensembl 74_37 +1 known silent c.3273 p.I1091 0.015 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 216 0 0 142 11 7.18954 USP10 0 genome.wustl.edu 37 16 84778357 84778357 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 84778357 84778357 T C SNP USP10 ENST00000570191 human ensembl 74_37 +1 known silent c.282 p.F94 1.000 pfam_Ataxin-2_C pfam_Peptidase_C19/C67,pfam_Ataxin-2_C,pfscan_Peptidase_C19/C67 - no_errors USP10 HGNC ENSG00000103194 167 0 0 108 28 20.5882 GSE1 0 genome.wustl.edu 37 16 85667621 85667621 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 85667621 85667621 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.109 p.A37T 1.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 102 0 0 58 18 23.6842 GSE1 0 genome.wustl.edu 37 16 85696670 85696670 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 85696670 85696670 C T SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.2344 p.P782S 1.000 pfam_GSE-like pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 101 0 0 42 29 40.8451 GSE1 0 genome.wustl.edu 37 16 85701751 85701751 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 85701751 85701751 G A SNP GSE1 ENST00000253458 human ensembl 74_37 +1 known missense c.3136 p.V1046M 0.000 NULL pfam_GSE-like - no_errors GSE1 HGNC ENSG00000131149 348 0 0 181 78 30.1158 FOXL1 0 genome.wustl.edu 37 16 86612389 86612389 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 86612389 86612389 G A SNP FOXL1 ENST00000320241 human ensembl 74_37 +1 known silent c.60 p.L20 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXL1 HGNC ENSG00000176678 142 0 0 62 38 38 JPH3 0 genome.wustl.edu 37 16 87723329 87723329 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 87723329 87723329 C T SNP JPH3 ENST00000284262 human ensembl 74_37 +1 known nonsense c.1363 p.Q455* 1.000 pirsf_Junctophilin pirsf_Junctophilin,pfam_MORN,smart_MORN - no_errors JPH3 HGNC ENSG00000154118 43 0 0 34 12 26.087 BANP 0 genome.wustl.edu 37 16 88066729 88066729 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 88066729 88066729 A G SNP BANP ENST00000286122 human ensembl 74_37 +1 known missense c.1054 p.T352A 0.996 NULL pfam_BEN_domain - no_errors BANP HGNC ENSG00000172530 38 0 0 32 4 11.1111 ACSF3 0 genome.wustl.edu 37 16 89167401 89167401 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 89167401 89167401 C T SNP ACSF3 ENST00000317447 human ensembl 74_37 +1 known silent c.312 p.N104 0.491 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF3 HGNC ENSG00000176715 195 0 0 125 27 17.7632 ANKRD11 0 genome.wustl.edu 37 16 89347285 89347285 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 89347285 89347285 T C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.5665 p.K1889E 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 145 0 0 65 38 36.8932 MYH4 0 genome.wustl.edu 37 17 10366715 10366715 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 10366715 10366715 T C SNP MYH4 ENST00000255381 human ensembl 74_37 -1 known missense c.745 p.K249E 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 139 0 0 65 9 12.1622 DNAH9 0 genome.wustl.edu 37 17 11656204 11656204 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 11656204 11656204 A G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.6665 p.K2222R 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 140 0 0 91 23 20.1754 ELAC2 0 genome.wustl.edu 37 17 12909071 12909071 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 12909071 12909071 T C SNP ELAC2 ENST00000338034 human ensembl 74_37 -1 known missense c.869 p.E290G 1.000 NULL pfam_Beta-lactamas-like - no_errors ELAC2 HGNC ENSG00000006744 141 0 0 74 31 29.5238 MYO1C 0 genome.wustl.edu 37 17 1386228 1386228 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 1386228 1386228 G A SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.473 p.A158V 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 40 0 0 14 5 26.3158 TRPV2 0 genome.wustl.edu 37 17 16338211 16338211 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 16338211 16338211 G A SNP TRPV2 ENST00000338560 human ensembl 74_37 +1 known missense c.2122 p.E708K 1.000 prints_TRPV1-4_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel - no_errors TRPV2 HGNC ENSG00000187688 154 0 0 65 25 27.7778 C17orf76-AS1 0 genome.wustl.edu 37 17 16342734 16342734 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 16342734 16342734 T C SNP C17orf76-AS1 ENST00000480811 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 233 0 0 113 66 36.8715 ZNF287 0 genome.wustl.edu 37 17 16455634 16455634 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 16455634 16455634 T C SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.1822 p.T608A 0.112 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 177 0 0 99 15 13.1579 SERPINF2 0 genome.wustl.edu 37 17 1650779 1650779 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 1650779 1650779 C T SNP SERPINF2 ENST00000324015 human ensembl 74_37 +1 known missense c.688 p.L230F 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINF2 HGNC ENSG00000167711 44 0 0 24 9 27.2727 MPRIP 0 genome.wustl.edu 37 17 17046081 17046081 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 17046081 17046081 T C SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known splice_site c.1035+2 e8+2 1.000 - - - no_errors MPRIP HGNC ENSG00000133030 118 1 0.840336 76 4 5 RAI1 0 genome.wustl.edu 37 17 17698099 17698099 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 17698099 17698099 G T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.1837 p.G613W 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 135 0 0 59 32 35.1648 RAI1 0 genome.wustl.edu 37 17 17700169 17700169 + Nonsense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 17700169 17700169 A T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known nonsense c.3907 p.K1303* 0.674 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 309 0 0 182 18 9 RAI1 0 genome.wustl.edu 37 17 17700292 17700292 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 17700292 17700292 T A SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.4030 p.F1344I 0.996 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 252 0 0 151 14 8.48485 EPN2 0 genome.wustl.edu 37 17 19186549 19186549 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 19186549 19186549 G A SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known silent c.117 p.L39 1.000 pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 178 0 0 84 36 30 MAPK7 0 genome.wustl.edu 37 17 19284780 19284780 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 19284780 19284780 C T SNP MAPK7 ENST00000308406 human ensembl 74_37 +1 known missense c.1258 p.P420S 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 MAPK7 HGNC ENSG00000166484 119 0 0 53 28 34.5679 ALDH3A2 0 genome.wustl.edu 37 17 19555013 19555013 + Nonsense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 19555013 19555013 G T SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known nonsense c.307 p.G103* 1.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 279 1 0.357143 144 66 31.4286 ALDH3A2 0 genome.wustl.edu 37 17 19559709 19559709 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 19559709 19559709 G A SNP ALDH3A2 ENST00000339618 human ensembl 74_37 +1 known missense c.502 p.E168K 0.000 pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) pfam_Aldehyde_DH_dom,pfam_Acyl-CoA_reduct_LuxC,superfamily_Ald_DH/histidinol_DH,pirsf_Aldehyde_DH_NAD(P) - no_errors ALDH3A2 HGNC ENSG00000072210 127 0 0 93 7 7 CCDC144NL 0 genome.wustl.edu 37 17 20799282 20799282 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 20799282 20799282 G C SNP CCDC144NL ENST00000327925 human ensembl 74_37 -1 known missense c.52 p.P18A 0.000 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 62 0 0 24 8 25 USP22 0 genome.wustl.edu 37 17 20921306 20921306 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 20921306 20921306 C T SNP USP22 ENST00000261497 human ensembl 74_37 -1 known missense c.639 p.M213I 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP22 HGNC ENSG00000124422 217 0 0 145 12 7.64331 METTL16 0 genome.wustl.edu 37 17 2324091 2324091 + Silent SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 2324091 2324091 G C SNP METTL16 ENST00000263092 human ensembl 74_37 -1 known silent c.996 p.R332 0.241 pirsf_S-AdoMet-dep_MeTrfase_Mett10D pfam_rRNA_lsu_MeTfrase_F-like,pirsf_S-AdoMet-dep_MeTrfase_Mett10D - no_errors METTL16 HGNC ENSG00000127804 508 0 0 288 151 34.3964 KSR1 0 genome.wustl.edu 37 17 25919448 25919448 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 25919448 25919448 C T SNP KSR1 ENST00000319524 human ensembl 74_37 +1 known silent c.1192 p.L398 0.737 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors KSR1 HGNC ENSG00000141068 349 1 0.285714 180 68 27.4194 CLUH 0 genome.wustl.edu 37 17 2595724 2595724 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 2595724 2595724 C T SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.3374 p.R1125H 1.000 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 55 0 0 23 9 28.125 CLUH 0 genome.wustl.edu 37 17 2606624 2606624 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 2606624 2606624 G A SNP CLUH ENST00000435359 human ensembl 74_37 -1 known missense c.349 p.R117C 0.970 NULL superfamily_GSKIP_dom - no_errors CLUH HGNC ENSG00000132361 28 0 0 19 3 13.6364 KIAA0100 0 genome.wustl.edu 37 17 26960389 26960389 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 26960389 26960389 A C SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.3496 p.W1166G 1.000 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 199 2 0.995025 102 53 34.1935 KIAA0100 0 genome.wustl.edu 37 17 26964956 26964956 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 26964956 26964956 C T SNP KIAA0100 ENST00000528896 human ensembl 74_37 -1 known missense c.1669 p.A557T 0.053 pfam_FMP27_N pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 87 0 0 54 6 10 PIPOX 0 genome.wustl.edu 37 17 27380576 27380576 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 27380576 27380576 A G SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known missense c.623 p.Q208R 0.000 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 178 0 0 130 9 6.47482 MYO18A 0 genome.wustl.edu 37 17 27420384 27420384 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 27420384 27420384 T G SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.4883 p.E1628A 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 42 0 0 16 16 50 MYO18A 0 genome.wustl.edu 37 17 27437032 27437032 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 27437032 27437032 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known missense c.3175 p.R1059C 0.999 superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 37 0 0 11 7 38.8889 MYO18A 0 genome.wustl.edu 37 17 27447649 27447649 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 27447649 27447649 G A SNP MYO18A ENST00000354329 human ensembl 74_37 -1 known silent c.1713 p.A571 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_RecA_monomer-monomer_interface pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_PDZ,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_Regulat_G_prot_signal_superfam,smart_PDZ,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_PDZ,pfscan_RecA_monomer-monomer_interface,prints_Myosin_head_motor_dom - no_errors MYO18A HGNC ENSG00000196535 60 0 0 27 14 34.1463 SLC6A4 0 genome.wustl.edu 37 17 28530221 28530221 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 28530221 28530221 C T SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known missense c.1787 p.R596Q 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 273 1 0.364964 172 10 5.49451 NF1 0 genome.wustl.edu 37 17 29587399 29587399 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 29587399 29587399 T A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.4443 p.D1481E 1.000 superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,smart_RasGAP 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 213 0 0 109 55 33.5366 UTP6 0 genome.wustl.edu 37 17 30202317 30202317 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 30202317 30202317 A G SNP UTP6 ENST00000261708 human ensembl 74_37 -1 known missense c.1241 p.I414T 0.975 NULL pfam_U3_snoRNA_assoc-6,smart_HAT - no_errors UTP6 HGNC ENSG00000108651 155 0 0 110 7 5.98291 ASIC2 0 genome.wustl.edu 37 17 31618577 31618577 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 31618577 31618577 C T SNP ASIC2 ENST00000225823 human ensembl 74_37 -1 known missense c.557 p.R186H 1.000 pfam_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors ASIC2 HGNC ENSG00000108684 51 0 0 29 10 25.641 CCT6B 0 genome.wustl.edu 37 17 33266705 33266705 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 33266705 33266705 G A SNP CCT6B ENST00000314144 human ensembl 74_37 -1 known silent c.996 p.A332 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,tigrfam_Chap_CCT_zeta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta - no_errors CCT6B HGNC ENSG00000132141 126 0 0 68 28 29.1667 SLFN12 0 genome.wustl.edu 37 17 33747357 33747357 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 33747357 33747357 C T SNP SLFN12 ENST00000304905 human ensembl 74_37 -1 known silent c.1083 p.T361 0.000 NULL pfam_ATPase_AAA-4 - no_errors SLFN12 HGNC ENSG00000172123 121 0 0 62 27 30.3371 AP2B1 0 genome.wustl.edu 37 17 33998825 33998825 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 33998825 33998825 C A SNP AP2B1 ENST00000312678 human ensembl 74_37 +1 known missense c.2084 p.P695H 0.988 pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP2B1 HGNC ENSG00000006125 452 0 0 245 102 29.3948 RASL10B 0 genome.wustl.edu 37 17 34062412 34062412 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 34062412 34062412 C T SNP RASL10B ENST00000268864 human ensembl 74_37 +1 known missense c.209 p.T70M 0.960 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RASL10B HGNC ENSG00000141150 78 0 0 54 20 27.027 GAS2L2 0 genome.wustl.edu 37 17 34072896 34072896 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 34072896 34072896 G T SNP GAS2L2 ENST00000254466 human ensembl 74_37 -1 known silent c.1620 p.A540 0.025 NULL pfam_GAS2_dom,pfam_CH-domain,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_GAS2_dom,pfscan_CH-domain - no_errors GAS2L2 HGNC ENSG00000132139 139 1 0.714286 71 18 20.2247 MYO19 0 genome.wustl.edu 37 17 34862384 34862384 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 34862384 34862384 G A SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known silent c.1708 p.L570 0.601 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO19 HGNC ENSG00000141140 210 1 0.473934 103 58 36.0248 LHX1 0 genome.wustl.edu 37 17 35300172 35300172 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 35300172 35300172 C T SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known missense c.965 p.T322M 0.929 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 19 0 0 10 5 33.3333 LHX1 0 genome.wustl.edu 37 17 35300261 35300261 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 35300261 35300261 G A SNP LHX1 ENST00000254457 human ensembl 74_37 +1 known missense c.1054 p.G352R 0.996 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX1 HGNC ENSG00000132130 44 0 0 14 8 36.3636 ACACA 0 genome.wustl.edu 37 17 35627644 35627644 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 35627644 35627644 G C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.1117 p.Q373E 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 349 0 0 265 14 5.01792 TADA2A 0 genome.wustl.edu 37 17 35830566 35830566 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 35830566 35830566 C T SNP TADA2A ENST00000225396 human ensembl 74_37 +1 known missense c.958 p.L320F 1.000 pirsf_Transcriptional_adaptor_2 pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors TADA2A HGNC ENSG00000108264 239 0 0 159 14 8.09249 P2RX5 0 genome.wustl.edu 37 17 3594321 3594321 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 3594321 3594321 C T SNP P2RX5 ENST00000435558 human ensembl 74_37 -1 known missense c.289 p.G97R 1.000 pfam_P2X_purnocptor,tigrfam_P2X_purnocptor pfam_P2X_purnocptor,prints_P2X_purnocptor,prints_P2X5_purnocptor,tigrfam_P2X_purnocptor - no_errors P2RX5 HGNC ENSG00000083454 34 0 0 13 3 18.75 GPR179 0 genome.wustl.edu 37 17 36485249 36485249 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 36485249 36485249 A G SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.4203 p.D1401 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 347 0 0 235 18 7.11462 CWC25 0 genome.wustl.edu 37 17 36971185 36971185 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 36971185 36971185 A G SNP CWC25 ENST00000225428 human ensembl 74_37 -1 known silent c.357 p.F119 1.000 pfam_CWC25 pfam_CWC25,pfam_CIR_N_dom - no_errors CWC25 HGNC ENSG00000108296 133 1 0.746269 75 30 28.5714 FBXO47 0 genome.wustl.edu 37 17 37101363 37101363 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 37101363 37101363 T C SNP FBXO47 ENST00000378079 human ensembl 74_37 -1 known missense c.643 p.I215V 0.998 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO47 HGNC ENSG00000204952 141 0 0 64 39 37.8641 LRRC37A11P 0 genome.wustl.edu 37 17 37187149 37187149 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 37187149 37187149 T C SNP LRRC37A11P ENST00000425901 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LRRC37A11P HGNC ENSG00000214553 20 0 0 7 6 46.1538 CACNB1 0 genome.wustl.edu 37 17 37333585 37333585 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 37333585 37333585 C T SNP CACNB1 ENST00000344140 human ensembl 74_37 -1 known silent c.1485 p.S495 0.999 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 33 0 0 19 6 24 MED1 0 genome.wustl.edu 37 17 37564724 37564724 + Silent SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 37564724 37564724 T A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.3750 p.G1250 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 170 0 0 78 28 26.4151 CAMKK1 0 genome.wustl.edu 37 17 3776731 3776731 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 3776731 3776731 A G SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known missense c.1136 p.V379A 0.963 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 CAMKK1 HGNC ENSG00000004660 354 0 0 246 15 5.74713 PGAP3 0 genome.wustl.edu 37 17 37829804 37829804 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 37829804 37829804 G A SNP PGAP3 ENST00000300658 human ensembl 74_37 -1 known silent c.657 p.F219 0.984 pfam_Per1 pfam_Per1 - no_errors PGAP3 HGNC ENSG00000161395 241 0 0 119 59 33.1461 MED24 0 genome.wustl.edu 37 17 38191547 38191547 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 38191547 38191547 G T SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.382 p.L128I 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 102 1 0.970874 18 19 51.3514 TNS4 0 genome.wustl.edu 37 17 38638399 38638399 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 38638399 38638399 G A SNP TNS4 ENST00000254051 human ensembl 74_37 -1 known missense c.1654 p.L552F 1.000 pfscan_SH2 pfam_PTB,pfam_SH2,smart_SH2,smart_PTB/PI_dom,pfscan_SH2 - no_errors TNS4 HGNC ENSG00000131746 92 0 0 11 21 65.625 KRTAP9-8 0 genome.wustl.edu 37 17 39394370 39394370 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 39394370 39394370 A G SNP KRTAP9-8 ENST00000254072 human ensembl 74_37 +1 known missense c.67 p.T23A 0.003 NULL NULL - no_errors KRTAP9-8 HGNC ENSG00000187272 128 0 0 40 39 49.3671 KRT36 0 genome.wustl.edu 37 17 39643624 39643624 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 39643624 39643624 C T SNP KRT36 ENST00000328119 human ensembl 74_37 -1 known silent c.966 p.E322 1.000 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT36 HGNC ENSG00000126337 39 0 0 9 7 43.75 KRT13 0 genome.wustl.edu 37 17 39661316 39661316 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 39661316 39661316 G A SNP KRT13 ENST00000246635 human ensembl 74_37 -1 known missense c.487 p.R163W 0.988 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT13 HGNC ENSG00000171401 78 0 0 26 21 44.6809 KRT16 0 genome.wustl.edu 37 17 39767667 39767667 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 39767667 39767667 C T SNP KRT16 ENST00000301653 human ensembl 74_37 -1 known missense c.701 p.R234K 0.989 pfam_IF,superfamily_Prefoldin,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT16 HGNC ENSG00000186832 181 0 0 52 76 59.375 ACLY 0 genome.wustl.edu 37 17 40068710 40068710 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 40068710 40068710 T C SNP ACLY ENST00000352035 human ensembl 74_37 -1 known missense c.245 p.K82R 1.000 pfam_ATP-grasp_succ-CoA_synth-type,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 116 0 0 92 7 7.07071 KAT2A 0 genome.wustl.edu 37 17 40269927 40269927 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 40269927 40269927 G A SNP KAT2A ENST00000225916 human ensembl 74_37 -1 known missense c.1289 p.P430L 1.000 pirsf_Hist_acetylase_PCAF pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2A HGNC ENSG00000108773 78 0 0 50 4 7.40741 PTRF 0 genome.wustl.edu 37 17 40557220 40557220 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 40557220 40557220 G A SNP PTRF ENST00000357037 human ensembl 74_37 -1 known missense c.658 p.R220C 1.000 NULL NULL - no_errors PTRF HGNC ENSG00000177469 386 0 0 182 68 27.2 ANKFY1 0 genome.wustl.edu 37 17 4080582 4080582 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 4080582 4080582 G A SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known missense c.2740 p.R914W 1.000 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 175 0 0 97 51 34.4595 WNK4 0 genome.wustl.edu 37 17 40940731 40940731 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 40940731 40940731 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known silent c.2073 p.C691 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 145 1 0.684932 74 34 31.4815 WNK4 0 genome.wustl.edu 37 17 40945659 40945659 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 40945659 40945659 G A SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.2207 p.R736Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 103 1 0.961538 52 19 26.7606 PSME3 0 genome.wustl.edu 37 17 40989706 40989706 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 40989706 40989706 C T SNP PSME3 ENST00000293362 human ensembl 74_37 +1 known missense c.284 p.A95V 1.000 superfamily_Proteasome_activ_pa28 pfam_Proteasome_activ_pa28_C,pfam_Proteasome_activ_pa28_N,superfamily_Proteasome_activ_pa28 - no_errors PSME3 HGNC ENSG00000131467 185 0 0 118 41 25.7862 SOST 0 genome.wustl.edu 37 17 41832758 41832758 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 41832758 41832758 G A SNP SOST ENST00000301691 human ensembl 74_37 -1 known silent c.594 p.R198 0.996 pfam_Sclerostin/SOSTDC1 pfam_Sclerostin/SOSTDC1,pfam_DAN,smart_Cys_knot_C - no_errors SOST HGNC ENSG00000167941 99 0 0 41 19 31.6667 UBTF 0 genome.wustl.edu 37 17 42290225 42290225 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 42290225 42290225 T C SNP UBTF ENST00000302904 human ensembl 74_37 -1 known missense c.622 p.T208A 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,superfamily_ARM-type_fold,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors UBTF HGNC ENSG00000108312 361 1 0.276243 223 84 27.3616 GRN 0 genome.wustl.edu 37 17 42427679 42427679 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 42427679 42427679 G T SNP GRN ENST00000053867 human ensembl 74_37 +1 known missense c.433 p.G145C 1.000 pfam_Granulin,smart_Granulin pfam_Granulin,smart_Granulin - no_errors GRN HGNC ENSG00000030582 331 3 0.898204 194 72 27.0677 C1QL1 0 genome.wustl.edu 37 17 43037611 43037611 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 43037611 43037611 C T SNP C1QL1 ENST00000253407 human ensembl 74_37 -1 known missense c.722 p.G241D 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL1 HGNC ENSG00000131094 212 0 0 100 55 35.4839 ACBD4 0 genome.wustl.edu 37 17 43220923 43220923 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 43220923 43220923 G A SNP ACBD4 ENST00000431281 human ensembl 74_37 +1 known missense c.941 p.G314E 0.933 NULL pfam_Acyl-CoA-binding_protein,superfamily_Acyl-CoA-binding_protein,prints_Acyl-CoA-binding_protein - no_errors ACBD4 HGNC ENSG00000181513 151 0 0 92 7 7.07071 ENSG00000233175 0 genome.wustl.edu 37 17 43316444 43316444 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 43316444 43316444 A G SNP ENSG00000233175 ENST00000587534 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2020K17.3 Clone_based_vega_gene ENSG00000233175 85 0 0 46 32 41.0256 PLEKHM1 0 genome.wustl.edu 37 17 43531503 43531503 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 43531503 43531503 G A SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known missense c.1715 p.T572I 0.998 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 103 0 0 37 28 43.0769 CRHR1 0 genome.wustl.edu 37 17 43861933 43861933 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 43861933 43861933 G A SNP CRHR1 ENST00000398285 human ensembl 74_37 +1 known missense c.23 p.R8H 0.615 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF1_rcpt,prints_GPCR_2_diuretic_rcpt - no_errors CRHR1 HGNC ENSG00000120088 9 0 0 2 3 60 MAPT 0 genome.wustl.edu 37 17 44060714 44060714 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 44060714 44060714 C T SNP MAPT ENST00000344290 human ensembl 74_37 +1 known missense c.544 p.R182C 0.007 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 29 0 0 13 3 18.75 MYBBP1A 0 genome.wustl.edu 37 17 4448930 4448930 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 4448930 4448930 G A SNP MYBBP1A ENST00000381556 human ensembl 74_37 -1 known missense c.2048 p.P683L 0.000 pfam_DNA_pol_V,superfamily_ARM-type_fold pfam_DNA_pol_V,superfamily_ARM-type_fold - no_errors MYBBP1A HGNC ENSG00000132382 60 0 0 29 14 32.5581 TBX21 0 genome.wustl.edu 37 17 45822603 45822603 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 45822603 45822603 C T SNP TBX21 ENST00000177694 human ensembl 74_37 +1 known silent c.1479 p.G493 0.990 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 TBX21 HGNC ENSG00000073861 88 0 0 44 14 24.1379 CXCL16 0 genome.wustl.edu 37 17 4638556 4638556 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 4638556 4638556 A G SNP CXCL16 ENST00000293778 human ensembl 74_37 -1 known silent c.606 p.P202 0.000 NULL NULL - no_errors CXCL16 HGNC ENSG00000161921 56 0 0 26 16 38.0952 CXCL16 0 genome.wustl.edu 37 17 4638666 4638666 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 4638666 4638666 A G SNP CXCL16 ENST00000293778 human ensembl 74_37 -1 known missense c.496 p.S166P 0.001 NULL NULL - no_errors CXCL16 HGNC ENSG00000161921 118 0 0 59 22 27.1605 HOXB13 0 genome.wustl.edu 37 17 46805653 46805653 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 46805653 46805653 G T SNP HOXB13 ENST00000290295 human ensembl 74_37 -1 known silent c.303 p.A101 1.000 pfam_HoxA13_N pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXB13 HGNC ENSG00000159184 249 0 0 112 50 30.8642 PLD2 0 genome.wustl.edu 37 17 4712400 4712400 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 4712400 4712400 C T SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.389 p.A130V 0.973 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 309 0 0 170 54 24.1071 NGFR 0 genome.wustl.edu 37 17 47589350 47589350 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 47589350 47589350 C T SNP NGFR ENST00000172229 human ensembl 74_37 +1 known silent c.918 p.G306 1.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_16 - no_errors NGFR HGNC ENSG00000064300 46 0 0 28 5 15.1515 ITGA3 0 genome.wustl.edu 37 17 48145586 48145586 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 48145586 48145586 C T SNP ITGA3 ENST00000320031 human ensembl 74_37 +1 known missense c.581 p.T194M 0.996 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA3 HGNC ENSG00000005884 204 0 0 98 47 32.4138 XYLT2 0 genome.wustl.edu 37 17 48434595 48434595 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 48434595 48434595 C T SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known silent c.1923 p.S641 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 27 0 0 27 3 10 CACNA1G 0 genome.wustl.edu 37 17 48703770 48703770 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 48703770 48703770 G A SNP CACNA1G ENST00000359106 human ensembl 74_37 +1 known silent c.6792 p.E2264 0.204 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 22 0 0 17 6 26.087 CAMTA2 0 genome.wustl.edu 37 17 4873216 4873216 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 4873216 4873216 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.3239 p.T1080M 0.983 superfamily_P-loop_NTPase pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 469 0 0 232 115 33.1412 USP6 0 genome.wustl.edu 37 17 5037186 5037186 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 5037186 5037186 T C SNP USP6 ENST00000250066 human ensembl 74_37 +1 known missense c.389 p.M130T 0.998 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 225 0 0 183 17 8.5 HLF 0 genome.wustl.edu 37 17 53398143 53398143 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 53398143 53398143 A G SNP HLF ENST00000226067 human ensembl 74_37 +1 known missense c.791 p.N264S 1.000 pfam_bZIP,smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors HLF HGNC ENSG00000108924 59 0 0 21 7 25 MMD 0 genome.wustl.edu 37 17 53491524 53491524 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 53491524 53491524 A G SNP MMD ENST00000262065 human ensembl 74_37 -1 known silent c.96 p.C32 0.996 pfam_HlyIII-related,tigrfam_HylIII pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 106 0 0 54 30 35.7143 SCPEP1 0 genome.wustl.edu 37 17 55079432 55079432 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 55079432 55079432 C A SNP SCPEP1 ENST00000262288 human ensembl 74_37 +1 known missense c.1186 p.Q396K 0.103 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors SCPEP1 HGNC ENSG00000121064 218 0 0 123 45 26.7857 LPO 0 genome.wustl.edu 37 17 56326949 56326949 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 56326949 56326949 G A SNP LPO ENST00000262290 human ensembl 74_37 +1 known missense c.466 p.A156T 0.400 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 55 0 0 29 12 29.2683 USP32 0 genome.wustl.edu 37 17 58313509 58313509 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 58313509 58313509 T C SNP USP32 ENST00000300896 human ensembl 74_37 -1 known missense c.1229 p.Y410C 1.000 pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_EF_hand_dom,smart_Pept_C19_DUSP,pfscan_EF_hand_dom,pfscan_Peptidase_C19/C67,prints_Recoverin - no_errors USP32 HGNC ENSG00000170832 267 0 0 171 21 10.9375 APPBP2 0 genome.wustl.edu 37 17 58538010 58538010 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 58538010 58538010 A G SNP APPBP2 ENST00000592995 human ensembl 74_37 -1 known rna NULL NULL 0.049 - - - no_errors APPBP2 HGNC ENSG00000062725 95 0 0 52 18 25.7143 TBX4 0 genome.wustl.edu 37 17 59560871 59560871 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 59560871 59560871 C T SNP TBX4 ENST00000393853 human ensembl 74_37 +1 known silent c.1635 p.D545 0.944 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 TBX4 HGNC ENSG00000121075 101 1 0.980392 56 21 27.2727 INTS2 0 genome.wustl.edu 37 17 59968953 59968953 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 59968953 59968953 G A SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.1820 p.A607V 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 226 0 0 91 44 32.5926 MED13 0 genome.wustl.edu 37 17 60030383 60030383 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 60030383 60030383 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.6060 p.T2020 0.999 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 179 0 0 130 17 11.5646 MED13 0 genome.wustl.edu 37 17 60043998 60043998 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 60043998 60043998 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.4206 p.G1402 0.978 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 52 0 0 28 16 36.3636 MED13 0 genome.wustl.edu 37 17 60072701 60072701 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 60072701 60072701 A G SNP MED13 ENST00000397786 human ensembl 74_37 -1 known silent c.1993 p.L665 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 157 1 0.632911 113 10 8.13008 TANC2 0 genome.wustl.edu 37 17 61466882 61466882 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 61466882 61466882 C G SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.2806 p.L936V 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom 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 32 0 0 20 4 16.6667 GH1 0 genome.wustl.edu 37 17 61995762 61995762 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 61995762 61995762 C T SNP GH1 ENST00000323322 human ensembl 74_37 -1 known missense c.115 p.A39T 0.994 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH1 HGNC ENSG00000259384 486 1 0.205339 331 30 8.31025 SCN4A 0 genome.wustl.edu 37 17 62018681 62018681 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 62018681 62018681 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.4961 p.A1654V 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN4A HGNC ENSG00000007314 158 0 0 115 9 7.25806 LOC146880 0 genome.wustl.edu 37 17 62758775 62758775 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 62758775 62758775 T C SNP LOC146880 ENST00000400873 human ensembl 74_37 -1 known rna NULL NULL 0.993 - - - no_errors hsa-mir-6080 miRBase ENSG00000215769 85 0 0 63 12 16 PLEKHM1P 0 genome.wustl.edu 37 17 62820804 62820804 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 62820804 62820804 C T SNP PLEKHM1P ENST00000397718 human ensembl 74_37 -1 known rna NULL NULL 0.950 - - - no_errors PLEKHM1P HGNC ENSG00000214176 30 0 0 20 7 25.9259 PITPNM3 0 genome.wustl.edu 37 17 6387608 6387608 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 6387608 6387608 T C SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.279 p.E93 0.943 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 251 0 0 135 52 27.8075 BPTF 0 genome.wustl.edu 37 17 65942395 65942395 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 65942395 65942395 A G SNP BPTF ENST00000321892 human ensembl 74_37 +1 known missense c.7949 p.E2650G 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 166 0 0 90 6 6.25 SLC13A5 0 genome.wustl.edu 37 17 6604366 6604366 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 6604366 6604366 G A SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known silent c.796 p.L266 0.111 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 90 0 0 50 4 7.40741 ABCA5 0 genome.wustl.edu 37 17 67287435 67287435 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 67287435 67287435 T C SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known missense c.1528 p.T510A 1.000 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 ABCA5 HGNC ENSG00000154265 115 0 0 64 14 17.9487 SOX9 0 genome.wustl.edu 37 17 70118922 70118922 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 70118922 70118922 A G SNP SOX9 ENST00000245479 human ensembl 74_37 +1 known missense c.494 p.H165R 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 93 0 0 20 20 50 COG1 0 genome.wustl.edu 37 17 71196745 71196745 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 71196745 71196745 A G SNP COG1 ENST00000299886 human ensembl 74_37 +1 known missense c.1111 p.M371V 0.000 NULL NULL - no_errors COG1 HGNC ENSG00000166685 187 0 0 85 60 41.3793 SDK2 0 genome.wustl.edu 37 17 71384174 71384174 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 71384174 71384174 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.4195 p.R1399C 1.000 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 10 0 0 2 3 60 SLC2A4 0 genome.wustl.edu 37 17 7189239 7189239 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7189239 7189239 C T SNP SLC2A4 ENST00000571308 human ensembl 74_37 +1 putative silent c.1338 p.P446 0.000 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,tigrfam_Sugar/inositol_transpt - no_errors SLC2A4 HGNC ENSG00000181856 78 0 0 35 12 25.5319 EIF5A 0 genome.wustl.edu 37 17 7214674 7214674 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7214674 7214674 T C SNP EIF5A ENST00000336452 human ensembl 74_37 +1 known silent c.366 p.I122 1.000 pfam_Transl_elong_IF5A_C,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A pfam_Transl_elong_IF5A_C,pfam_KOW,superfamily_Translation_prot_SH3-like,superfamily_NA-bd_OB-fold,pirsf_Transl_elong_IF5A,tigrfam_Transl_elong_IF5A - no_errors EIF5A HGNC ENSG00000132507 114 0 0 61 23 27.381 DNAI2 0 genome.wustl.edu 37 17 72278019 72278019 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 72278019 72278019 G A SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known silent c.63 p.S21 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 232 2 0.854701 123 62 33.5135 DNAI2 0 genome.wustl.edu 37 17 72301516 72301516 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 72301516 72301516 G A SNP DNAI2 ENST00000311014 human ensembl 74_37 +1 known silent c.1146 p.T382 0.005 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DNAI2 HGNC ENSG00000171595 121 0 0 57 23 28.75 KCTD11 0 genome.wustl.edu 37 17 7256323 7256323 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7256323 7256323 G A SNP KCTD11 ENST00000333751 human ensembl 74_37 +1 known missense c.62 p.G21D 0.516 pfam_T1-type_BTB,superfamily_BTB/POZ_fold pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD11 HGNC ENSG00000213859 116 0 0 70 25 26.3158 GRIN2C 0 genome.wustl.edu 37 17 72838813 72838813 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 72838813 72838813 C T SNP GRIN2C ENST00000293190 human ensembl 74_37 -1 known missense c.3463 p.A1155T 0.619 NULL 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 11 0 0 5 5 50 NLGN2 0 genome.wustl.edu 37 17 7318418 7318418 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7318418 7318418 C T SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.988 p.R330C 0.987 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 103 0 0 55 20 26.6667 KIAA0195 0 genome.wustl.edu 37 17 73467975 73467975 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 73467975 73467975 T C SNP KIAA0195 ENST00000580416 human ensembl 74_37 +1 known rna NULL NULL 0.372 - - - no_errors KIAA0195 HGNC ENSG00000177728 186 0 0 95 54 36.2416 RECQL5 0 genome.wustl.edu 37 17 73625122 73625122 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 73625122 73625122 A G SNP RECQL5 ENST00000317905 human ensembl 74_37 -1 known missense c.2381 p.V794A 0.000 pfam_RecQ_helicase-like_5 pfam_RecQ_helicase-like_5,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL5 HGNC ENSG00000108469 136 0 0 60 27 31.0345 ZBTB4 0 genome.wustl.edu 37 17 7365936 7365936 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7365936 7365936 C T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.2365 p.A789T 0.024 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 221 0 0 128 15 10.4895 SLC35G6 0 genome.wustl.edu 37 17 7385573 7385573 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7385573 7385573 T C SNP SLC35G6 ENST00000412468 human ensembl 74_37 +1 known silent c.270 p.R90 0.041 pfam_DMT pfam_DMT - no_errors SLC35G6 HGNC ENSG00000259224 475 1 0.210084 262 79 23.1672 FBF1 0 genome.wustl.edu 37 17 73910955 73910955 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 73910955 73910955 C T SNP FBF1 ENST00000389570 human ensembl 74_37 -1 known missense c.2645 p.R882H 1.000 NULL superfamily_HRDC-like - no_errors FBF1 HGNC ENSG00000188878 40 0 0 20 8 28.5714 EVPL 0 genome.wustl.edu 37 17 74018092 74018092 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 74018092 74018092 G A SNP EVPL ENST00000301607 human ensembl 74_37 -1 known silent c.663 p.R221 0.715 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 9 0 0 6 3 33.3333 CYGB 0 genome.wustl.edu 37 17 74527136 74527136 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 74527136 74527136 C T SNP CYGB ENST00000293230 human ensembl 74_37 -1 known missense c.464 p.R155H 0.909 superfamily_Globin-like,pfscan_Globin,prints_Myoglobin pfam_Globin,superfamily_Globin-like,pfscan_Globin,prints_Globin_lamprey/hagfish,prints_Myoglobin - no_errors CYGB HGNC ENSG00000161544 70 0 0 23 12 34.2857 MGAT5B 0 genome.wustl.edu 37 17 74865037 74865037 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 74865037 74865037 G A SNP MGAT5B ENST00000374998 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MGAT5B HGNC ENSG00000167889 31 0 0 10 9 47.3684 SEC14L1 0 genome.wustl.edu 37 17 75202391 75202391 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 75202391 75202391 T A SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1250 p.I417N 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 115 0 0 50 23 31.5068 SEC14L1 0 genome.wustl.edu 37 17 75202481 75202481 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 75202481 75202481 T C SNP SEC14L1 ENST00000392476 human ensembl 74_37 +1 known missense c.1340 p.L447P 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1 - no_errors SEC14L1 HGNC ENSG00000129657 102 0 0 40 16 28.5714 SEPT9 0 genome.wustl.edu 37 17 75493432 75493432 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 75493432 75493432 C T SNP SEPT9 ENST00000427177 human ensembl 74_37 +1 known missense c.1609 p.R537W 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,superfamily_P-loop_NTPase - no_errors SEPT9 HGNC ENSG00000184640 35 0 0 23 14 37.8378 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 60 0 0 32 10 23.8095 TP53 0 genome.wustl.edu 37 17 7578427 7578427 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7578427 7578427 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.503 p.H168R 0.995 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 126 0 0 47 18 27.6923 CYTH1 0 genome.wustl.edu 37 17 76696475 76696475 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 76696475 76696475 C T SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known missense c.488 p.R163Q 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 38 0 0 27 5 15.625 CYTH1 0 genome.wustl.edu 37 17 76705763 76705763 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 76705763 76705763 C T SNP CYTH1 ENST00000361101 human ensembl 74_37 -1 known missense c.74 p.R25Q 0.997 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors CYTH1 HGNC ENSG00000108669 173 1 0.574713 86 36 29.5082 CYB5D1 0 genome.wustl.edu 37 17 7761604 7761604 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7761604 7761604 A G SNP CYB5D1 ENST00000332439 human ensembl 74_37 +1 known missense c.152 p.E51G 0.001 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd - no_errors CYB5D1 HGNC ENSG00000182224 146 0 0 113 8 6.61157 CCDC40 0 genome.wustl.edu 37 17 78055787 78055787 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 78055787 78055787 T C SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.1919 p.M640T 0.880 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 76 0 0 32 15 31.9149 RNF213 0 genome.wustl.edu 37 17 78317675 78317675 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 78317675 78317675 G C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.6202 p.V2068L 0.101 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 308 0 0 191 29 13.1818 RNF213 0 genome.wustl.edu 37 17 78338303 78338303 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 78338303 78338303 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.11821 p.V3941I 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 97 0 0 55 19 25.6757 RNF213 0 genome.wustl.edu 37 17 78346449 78346449 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 78346449 78346449 G A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known silent c.12666 p.S4222 0.000 NULL superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 59 0 0 27 24 47.0588 RNF213 0 genome.wustl.edu 37 17 78360232 78360232 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 78360232 78360232 T C SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known splice_site c.14720+2 e61+2 0.996 - - - no_errors RNF213 HGNC ENSG00000173821 72 0 0 46 14 23.3333 SLC38A10 0 genome.wustl.edu 37 17 79220314 79220314 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 79220314 79220314 C T SNP SLC38A10 ENST00000374759 human ensembl 74_37 -1 known missense c.2402 p.R801H 0.005 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 78 0 0 28 15 34.8837 OXLD1 0 genome.wustl.edu 37 17 79632587 79632587 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 79632587 79632587 A G SNP OXLD1 ENST00000374741 human ensembl 74_37 -1 known missense c.88 p.C30R 0.000 NULL pfam_Oxidoreductase-like_N - no_errors OXLD1 HGNC ENSG00000204237 63 0 0 36 6 14.2857 FASN 0 genome.wustl.edu 37 17 80049217 80049217 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 80049217 80049217 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known missense c.1373 p.A458V 0.949 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 32 0 0 18 8 30.7692 CCDC57 0 genome.wustl.edu 37 17 80059697 80059697 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 80059697 80059697 T C SNP CCDC57 ENST00000389641 human ensembl 74_37 -1 known missense c.2612 p.Q871R 0.000 NULL NULL - no_errors CCDC57 HGNC ENSG00000176155 123 1 0.806452 66 26 28.2609 ALOXE3 0 genome.wustl.edu 37 17 8013711 8013711 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 8013711 8013711 C T SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.1489 p.A497T 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 - no_errors ALOXE3 HGNC ENSG00000179148 50 0 0 19 10 34.4828 RAB40B 0 genome.wustl.edu 37 17 80615771 80615771 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 80615771 80615771 T G SNP RAB40B ENST00000571995 human ensembl 74_37 -1 known missense c.805 p.N269H 0.004 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_SOCS_C,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,smart_SOCS_C,pfscan_SOCS_C,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB40B HGNC ENSG00000141542 266 1 0.374532 149 59 28.3654 AURKB 0 genome.wustl.edu 37 17 8108325 8108325 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 8108325 8108325 G A SNP AURKB ENST00000585124 human ensembl 74_37 -1 known missense c.899 p.A300V 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 AURKB HGNC ENSG00000178999 79 0 0 46 17 26.9841 CTC1 0 genome.wustl.edu 37 17 8138088 8138088 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 8138088 8138088 T C SNP CTC1 ENST00000315684 human ensembl 74_37 -1 known silent c.1596 p.P532 0.222 NULL NULL - no_errors CTC1 HGNC ENSG00000178971 101 0 0 56 31 35.6322 WDR16 0 genome.wustl.edu 37 17 9489252 9489252 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 9489252 9489252 A G SNP WDR16 ENST00000299764 human ensembl 74_37 +1 known missense c.263 p.Y88C 0.787 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR16 HGNC ENSG00000166596 278 0 0 173 14 7.48663 RCVRN 0 genome.wustl.edu 37 17 9801318 9801318 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 9801318 9801318 C T SNP RCVRN ENST00000570909 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors RCVRN HGNC ENSG00000109047 96 0 0 24 40 62.5 LDLRAD4 0 genome.wustl.edu 37 18 13387564 13387564 + RNA SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 13387564 13387564 G C SNP LDLRAD4 ENST00000590371 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors LDLRAD4 HGNC ENSG00000168675 37 0 0 8 5 38.4615 MC2R 0 genome.wustl.edu 37 18 13884985 13884985 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 13884985 13884985 A G SNP MC2R ENST00000327606 human ensembl 74_37 -1 known missense c.533 p.F178S 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,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ACTH_rcpt,prints_Melcrt_ACTH_rcpt,prints_GPCR_Rhodpsn - no_errors MC2R HGNC ENSG00000185231 153 0 0 78 34 30.3571 ROCK1 0 genome.wustl.edu 37 18 18588031 18588031 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 18588031 18588031 A G SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.1535 p.V512A 1.000 pfam_HR1_rho-bd,pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 59 0 0 17 6 26.087 LAMA3 0 genome.wustl.edu 37 18 21441613 21441613 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 21441613 21441613 G C SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.4426 p.V1476L 1.000 superfamily_Growth_fac_rcpt_N_dom,pfscan_Laminin_B_type_IV pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,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 LAMA3 HGNC ENSG00000053747 95 0 0 50 4 7.40741 THOC1 0 genome.wustl.edu 37 18 216529 216529 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 216529 216529 T C SNP THOC1 ENST00000261600 human ensembl 74_37 -1 known missense c.1559 p.E520G 0.999 NULL pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 413 0 0 186 96 34.0426 ZNF521 0 genome.wustl.edu 37 18 22805224 22805224 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 22805224 22805224 G A SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known silent c.2658 p.Y886 0.396 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 144 1 0.689655 64 31 32.6316 TAF4B 0 genome.wustl.edu 37 18 23866258 23866258 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 23866258 23866258 T C SNP TAF4B ENST00000269142 human ensembl 74_37 +1 known missense c.1385 p.V462A 0.985 NULL pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 120 0 0 49 22 30.9859 LPIN2 0 genome.wustl.edu 37 18 2920878 2920878 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 2920878 2920878 T C SNP LPIN2 ENST00000261596 human ensembl 74_37 -1 known missense c.2444 p.D815G 1.000 pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2 pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 121 0 0 67 35 34.3137 SLC25A52 0 genome.wustl.edu 37 18 29340013 29340013 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 29340013 29340013 T C SNP SLC25A52 ENST00000269205 human ensembl 74_37 -1 known silent c.642 p.A214 0.448 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A52 HGNC ENSG00000141437 180 0 0 121 14 10.3704 ENSG00000263606 0 genome.wustl.edu 37 18 2946531 2946531 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 2946531 2946531 C T SNP ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 30 0 0 12 9 42.8571 KLHL14 0 genome.wustl.edu 37 18 30260415 30260415 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 30260415 30260415 C T SNP KLHL14 ENST00000359358 human ensembl 74_37 -1 known silent c.1386 p.A462 0.787 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 KLHL14 HGNC ENSG00000197705 236 0 0 132 48 26.6667 MOCOS 0 genome.wustl.edu 37 18 33848583 33848583 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 33848583 33848583 T C SNP MOCOS ENST00000261326 human ensembl 74_37 +1 known silent c.2602 p.L868 0.987 NULL pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 306 0 0 198 28 12.3894 KIAA1328 0 genome.wustl.edu 37 18 34753044 34753044 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 34753044 34753044 G A SNP KIAA1328 ENST00000280020 human ensembl 74_37 +1 known missense c.1523 p.R508Q 0.940 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 181 1 0.549451 101 29 22.3077 CELF4 0 genome.wustl.edu 37 18 34854302 34854302 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 34854302 34854302 A G SNP CELF4 ENST00000420428 human ensembl 74_37 -1 known missense c.773 p.F258S 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CELF4 HGNC ENSG00000101489 234 0 0 157 14 8.18713 CTIF 0 genome.wustl.edu 37 18 46385820 46385820 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 46385820 46385820 A G SNP CTIF ENST00000382998 human ensembl 74_37 +1 known missense c.1693 p.T565A 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 232 2 0.854701 106 42 28.3784 DCC 0 genome.wustl.edu 37 18 50985668 50985668 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 50985668 50985668 T C SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3459 p.L1153 0.999 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 198 0 0 110 16 12.6984 DCC 0 genome.wustl.edu 37 18 50985691 50985691 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 50985691 50985691 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3482 p.E1161G 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 224 0 0 132 18 12 DCC 0 genome.wustl.edu 37 18 51025784 51025784 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 51025784 51025784 A G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.4015 p.T1339A 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 239 0 0 135 10 6.89655 WDR7 0 genome.wustl.edu 37 18 54358512 54358512 + Silent SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 54358512 54358512 C G SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known silent c.783 p.T261 0.277 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 256 1 0.389105 141 51 26.5625 ONECUT2 0 genome.wustl.edu 37 18 55103632 55103632 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 55103632 55103632 C T SNP ONECUT2 ENST00000491143 human ensembl 74_37 +1 known silent c.684 p.A228 0.956 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors ONECUT2 HGNC ENSG00000119547 51 0 0 15 14 48.2759 ATP8B1 0 genome.wustl.edu 37 18 55322536 55322536 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 55322536 55322536 G A SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known nonsense c.2821 p.R941* 1.000 tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 139 0 0 66 28 29.7872 ATP8B1 0 genome.wustl.edu 37 18 55355665 55355665 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 55355665 55355665 G A SNP ATP8B1 ENST00000283684 human ensembl 74_37 -1 known missense c.1295 p.T432I 1.000 tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 260 0 0 141 61 30.198 ZNF532 0 genome.wustl.edu 37 18 56651514 56651514 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 56651514 56651514 G T SNP ZNF532 ENST00000336078 human ensembl 74_37 +1 known missense c.3722 p.G1241V 0.997 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF532 HGNC ENSG00000074657 81 0 0 42 19 31.1475 RAX 0 genome.wustl.edu 37 18 56939715 56939715 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 56939715 56939715 T C SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.421 p.T141A 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 211 0 0 86 32 27.1186 LMAN1 0 genome.wustl.edu 37 18 56998753 56998753 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 56998753 56998753 T C SNP LMAN1 ENST00000251047 human ensembl 74_37 -1 known missense c.1393 p.K465E 0.994 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf,superfamily_HMG_box_dom - no_errors LMAN1 HGNC ENSG00000074695 165 1 0.60241 83 39 31.9672 MC4R 0 genome.wustl.edu 37 18 58038674 58038674 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 58038674 58038674 T C SNP MC4R ENST00000299766 human ensembl 74_37 -1 known silent c.909 p.A303 0.981 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Cnbnoid_rcpt 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 199 0 0 139 8 5.44218 PHLPP1 0 genome.wustl.edu 37 18 60630645 60630645 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 60630645 60630645 C T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.3500 p.A1167V 0.998 smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 45 0 0 14 8 36.3636 PHLPP1 0 genome.wustl.edu 37 18 60645758 60645758 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 60645758 60645758 C T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known silent c.4248 p.S1416 0.857 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 20 0 0 11 3 21.4286 BCL2 0 genome.wustl.edu 37 18 60985517 60985517 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 60985517 60985517 C T SNP BCL2 ENST00000333681 human ensembl 74_37 -1 known missense c.383 p.G128E 0.286 pfam_Blc2_fam,pfscan_Bcl2-like,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX pfam_Blc2_fam,pfam_Bcl2_BH4,smart_Bcl2_BH4,pfscan_Bcl2-like,pfscan_Bcl2_BH4,prints_Apop_reg_Bcl2,prints_Blc2_fam,prints_Apop_reg_BclX,tigrfam_Bcl2/BclX - no_errors BCL2 HGNC ENSG00000171791 167 0 0 111 9 7.5 VPS4B 0 genome.wustl.edu 37 18 61067315 61067315 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 61067315 61067315 A G SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known silent c.756 p.R252 0.081 pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 118 0 0 76 40 34.4828 SERPINB5 0 genome.wustl.edu 37 18 61166407 61166407 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 61166407 61166407 A T SNP SERPINB5 ENST00000382771 human ensembl 74_37 +1 known missense c.622 p.N208Y 0.964 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB5 HGNC ENSG00000206075 142 1 0.699301 65 40 38.0952 SERPINB4 0 genome.wustl.edu 37 18 61306899 61306899 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 61306899 61306899 T C SNP SERPINB4 ENST00000341074 human ensembl 74_37 -1 known missense c.581 p.N194S 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB4 HGNC ENSG00000206073 88 0 0 75 9 10.7143 SERPINB7 0 genome.wustl.edu 37 18 61471659 61471659 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 61471659 61471659 T C SNP SERPINB7 ENST00000336429 human ensembl 74_37 +1 known silent c.933 p.A311 0.003 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 117 0 0 77 12 13.4831 L3MBTL4 0 genome.wustl.edu 37 18 6239801 6239801 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 6239801 6239801 A G SNP L3MBTL4 ENST00000284898 human ensembl 74_37 -1 known missense c.623 p.L208S 0.997 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,pfam_SAM_type1,pfam_Znf_C2HC,pfam_SAM_2,superfamily_SAM/pointed,smart_Mbt,smart_SAM,pfscan_Mbt,pfscan_SAM - no_errors L3MBTL4 HGNC ENSG00000154655 149 0 0 84 8 8.69565 CLUL1 0 genome.wustl.edu 37 18 627251 627251 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 627251 627251 C A SNP CLUL1 ENST00000338387 human ensembl 74_37 +1 known missense c.578 p.S193Y 0.009 pfam_Clusterin-like,smart_Clusterin_N pfam_Clusterin-like,smart_Clusterin_N,smart_Clusterin_C - no_errors CLUL1 HGNC ENSG00000079101 431 0 0 207 103 33.2258 DSEL 0 genome.wustl.edu 37 18 65178220 65178220 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 65178220 65178220 T A SNP DSEL ENST00000310045 human ensembl 74_37 -1 known missense c.3656 p.K1219M 1.000 superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,superfamily_Chondroitin_lyas - no_errors DSEL HGNC ENSG00000171451 120 0 0 81 5 5.81395 ARHGAP28 0 genome.wustl.edu 37 18 6873731 6873731 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 6873731 6873731 G A SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.1169 p.R390Q 1.000 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 66 0 0 26 11 29.7297 NETO1 0 genome.wustl.edu 37 18 70502382 70502382 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 70502382 70502382 A G SNP NETO1 ENST00000580049 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors NETO1 HGNC ENSG00000166342 21 0 0 15 8 34.7826 NETO1 0 genome.wustl.edu 37 18 70534507 70534507 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 70534507 70534507 A G SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.20 p.V7A 0.999 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 21 0 0 9 5 35.7143 ZNF407 0 genome.wustl.edu 37 18 72347183 72347183 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 72347183 72347183 C A SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.4208 p.S1403Y 0.016 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 139 0 0 56 29 34.1176 TSHZ1 0 genome.wustl.edu 37 18 72998600 72998600 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 72998600 72998600 C T SNP TSHZ1 ENST00000580243 human ensembl 74_37 +1 known missense c.1238 p.A413V 0.120 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 113 0 0 39 18 31.5789 ZNF516 0 genome.wustl.edu 37 18 74154821 74154821 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 74154821 74154821 A G SNP ZNF516 ENST00000443185 human ensembl 74_37 -1 known missense c.190 p.C64R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF516 HGNC ENSG00000101493 44 0 0 37 4 9.7561 ZNF236 0 genome.wustl.edu 37 18 74592191 74592191 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 74592191 74592191 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.1101 p.P367 0.563 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 132 0 0 59 27 31.3953 ZNF236 0 genome.wustl.edu 37 18 74631811 74631811 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 74631811 74631811 G A SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known silent c.3348 p.T1116 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 249 0 0 102 47 31.5436 ADNP2 0 genome.wustl.edu 37 18 77894254 77894254 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 77894254 77894254 A G SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known missense c.958 p.T320A 0.024 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 224 0 0 170 13 7.10383 ADNP2 0 genome.wustl.edu 37 18 77895696 77895696 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 77895696 77895696 T C SNP ADNP2 ENST00000262198 human ensembl 74_37 +1 known silent c.2400 p.P800 0.005 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ADNP2 HGNC ENSG00000101544 267 0 0 122 55 31.0734 PTPRM 0 genome.wustl.edu 37 18 8244194 8244194 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 8244194 8244194 T A SNP PTPRM ENST00000400060 human ensembl 74_37 +1 known missense c.2439 p.N813K 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRM HGNC ENSG00000173482 173 0 0 72 32 30.7692 RAB12 0 genome.wustl.edu 37 18 8609919 8609919 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 8609919 8609919 A T SNP RAB12 ENST00000329286 human ensembl 74_37 +1 known missense c.194 p.D65V 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,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,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,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 RAB12 HGNC ENSG00000206418 59 0 0 26 16 38.0952 SOGA2 0 genome.wustl.edu 37 18 8784835 8784835 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 8784835 8784835 C T SNP SOGA2 ENST00000359865 human ensembl 74_37 +1 known silent c.1725 p.D575 1.000 NULL pfam_SOGA - no_errors SOGA2 HGNC ENSG00000168502 128 0 0 64 16 20 TXNDC2 0 genome.wustl.edu 37 18 9887067 9887067 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 9887067 9887067 C A SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known silent c.591 p.S197 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 360 0 0 161 52 24.4131 ABCA7 0 genome.wustl.edu 37 19 1055276 1055276 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1055276 1055276 A C SNP ABCA7 ENST00000263094 human ensembl 74_37 +1 known missense c.4131 p.E1377D 0.005 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_GroES-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA7 HGNC ENSG00000064687 33 0 0 11 10 47.619 KRI1 0 genome.wustl.edu 37 19 10670348 10670348 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 10670348 10670348 G A SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.982 p.R328C 1.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 127 0 0 79 6 7.05882 KRI1 0 genome.wustl.edu 37 19 10670512 10670512 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 10670512 10670512 G A SNP KRI1 ENST00000312962 human ensembl 74_37 -1 known missense c.919 p.R307C 1.000 NULL pfam_KRR1-interact_protein_1 - no_errors KRI1 HGNC ENSG00000129347 148 0 0 63 33 34.375 HMHA1 0 genome.wustl.edu 37 19 1080015 1080015 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1080015 1080015 A G SNP HMHA1 ENST00000313093 human ensembl 74_37 +1 known missense c.1601 p.Y534C 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 154 0 0 88 46 34.3284 KANK2 0 genome.wustl.edu 37 19 11304581 11304581 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 11304581 11304581 G C SNP KANK2 ENST00000432929 human ensembl 74_37 -1 known missense c.175 p.L59V 0.996 pfam_KN_motif pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK2 HGNC ENSG00000197256 147 0 0 100 6 5.66038 DOCK6 0 genome.wustl.edu 37 19 11361698 11361698 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 11361698 11361698 A G SNP DOCK6 ENST00000294618 human ensembl 74_37 -1 known missense c.572 p.I191T 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 43 0 0 33 8 19.5122 CCDC151 0 genome.wustl.edu 37 19 11531591 11531591 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 11531591 11531591 T C SNP CCDC151 ENST00000356392 human ensembl 74_37 -1 known missense c.1700 p.N567S 0.000 NULL NULL - no_errors CCDC151 HGNC ENSG00000198003 156 0 0 124 14 10.1449 CNN1 0 genome.wustl.edu 37 19 11651959 11651959 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 11651959 11651959 T C SNP CNN1 ENST00000252456 human ensembl 74_37 +1 known silent c.132 p.R44 0.001 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,prints_Calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN1 HGNC ENSG00000130176 45 0 0 36 14 28 ZNF441 0 genome.wustl.edu 37 19 11891889 11891889 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 11891889 11891889 A G SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.1250 p.K417R 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF441 HGNC ENSG00000197044 77 0 0 32 18 36 ZNF439 0 genome.wustl.edu 37 19 11979050 11979050 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 11979050 11979050 A G SNP ZNF439 ENST00000304030 human ensembl 74_37 +1 known missense c.1166 p.K389R 0.990 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 ZNF439 HGNC ENSG00000171291 150 0 0 106 12 10.1695 ZNF700 0 genome.wustl.edu 37 19 12060478 12060478 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 12060478 12060478 T C SNP ZNF700 ENST00000254321 human ensembl 74_37 +1 known missense c.1639 p.C547R 0.039 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 ZNF700 HGNC ENSG00000196757 189 0 0 115 20 14.8148 LOC100289333 0 genome.wustl.edu 37 19 12318224 12318224 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 12318224 12318224 A G SNP LOC100289333 ENST00000415793 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors CTD-2666L21.1 Clone_based_vega_gene ENSG00000234773 107 0 0 73 6 7.59494 ZNF799 0 genome.wustl.edu 37 19 12502150 12502150 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 12502150 12502150 A G SNP ZNF799 ENST00000430385 human ensembl 74_37 -1 known silent c.1062 p.S354 0.021 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 338 0 0 246 16 6.10687 ZNF709 0 genome.wustl.edu 37 19 12576123 12576123 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 12576123 12576123 A G SNP ZNF709 ENST00000397732 human ensembl 74_37 -1 known missense c.613 p.F205L 0.835 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 237 1 0.420168 133 50 27.3224 C19orf24 0 genome.wustl.edu 37 19 1278884 1278884 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1278884 1278884 G A SNP C19orf24 ENST00000469144 human ensembl 74_37 +1 putative nonsense c.75 p.W25* 0.072 NULL NULL - no_errors C19orf24 HGNC ENSG00000228300 170 1 0.584795 73 49 40.1639 RAD23A 0 genome.wustl.edu 37 19 13058813 13058813 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 13058813 13058813 T C SNP RAD23A ENST00000586534 human ensembl 74_37 +1 known missense c.224 p.M75T 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 pfam_XPC-bd,pfam_UBA/Ts_N,pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,prints_Rad23,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,tigrfam_Rad23 - no_errors RAD23A HGNC ENSG00000179262 147 1 0.675676 120 9 6.97674 TRMT1 0 genome.wustl.edu 37 19 13226508 13226508 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 13226508 13226508 G A SNP TRMT1 ENST00000357720 human ensembl 74_37 -1 known silent c.385 p.L129 0.000 pfam_TRM1,tigrfam_TRM1 pfam_TRM1,pfam_Znf_CCCH,pfam_tRNA_Trfase_Trm5/Tyw2,smart_Znf_CCCH,tigrfam_TRM1 - no_errors TRMT1 HGNC ENSG00000104907 519 0 0 253 139 35.4592 MRI1 0 genome.wustl.edu 37 19 13879776 13879776 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 13879776 13879776 G A SNP MRI1 ENST00000040663 human ensembl 74_37 +1 known missense c.863 p.R288H 0.914 pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d pfam_IF-2B-related,tigrfam_IF-2BI_MTNA,tigrfam_Initiation_fac_2B_a/b/d - no_errors MRI1 HGNC ENSG00000037757 63 0 0 26 8 23.5294 RFX1 0 genome.wustl.edu 37 19 14077502 14077502 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 14077502 14077502 C A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known missense c.1794 p.E598D 0.909 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 140 1 0.70922 86 39 31.2 RFX1 0 genome.wustl.edu 37 19 14094383 14094383 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 14094383 14094383 G A SNP RFX1 ENST00000254325 human ensembl 74_37 -1 known missense c.344 p.T115I 0.984 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 18 0 0 12 10 45.4545 IL27RA 0 genome.wustl.edu 37 19 14150709 14150709 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 14150709 14150709 C T SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known missense c.521 p.A174V 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 218 0 0 103 37 26.4286 LPHN1 0 genome.wustl.edu 37 19 14271413 14271413 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 14271413 14271413 C T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known missense c.1621 p.A541T 1.000 smart_GPCR_2_extracellular_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 29 0 0 13 12 48 DAZAP1 0 genome.wustl.edu 37 19 1434841 1434841 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1434841 1434841 C T SNP DAZAP1 ENST00000233078 human ensembl 74_37 +1 known missense c.1154 p.P385L 0.999 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 45 0 0 23 9 28.125 DDX39A 0 genome.wustl.edu 37 19 14520628 14520628 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 14520628 14520628 A G SNP DDX39A ENST00000242776 human ensembl 74_37 -1 known missense c.790 p.Y264H 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_C 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 DDX39A HGNC ENSG00000123136 174 0 0 73 50 40.6504 OR7A17 0 genome.wustl.edu 37 19 14991549 14991549 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 14991549 14991549 C T SNP OR7A17 ENST00000327462 human ensembl 74_37 -1 known missense c.619 p.A207T 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7A17 HGNC ENSG00000185385 237 0 0 89 38 29.9213 NOTCH3 0 genome.wustl.edu 37 19 15296182 15296182 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 15296182 15296182 G A SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.2182 p.R728C 0.933 pirsf_Notch,pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 53 0 0 19 14 42.4242 BRD4 0 genome.wustl.edu 37 19 15367880 15367880 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 15367880 15367880 C T SNP BRD4 ENST00000263377 human ensembl 74_37 -1 known silent c.1446 p.P482 0.004 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD4 HGNC ENSG00000141867 34 0 0 13 4 23.5294 WIZ 0 genome.wustl.edu 37 19 15535738 15535738 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 15535738 15535738 C T SNP WIZ ENST00000389282 human ensembl 74_37 -1 known missense c.4286 p.C1429Y 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors WIZ HGNC ENSG00000011451 26 0 0 10 4 28.5714 OR10H2 0 genome.wustl.edu 37 19 15838975 15838975 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 15838975 15838975 G A SNP OR10H2 ENST00000305899 human ensembl 74_37 +1 known missense c.122 p.G41D 0.998 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 OR10H2 HGNC ENSG00000171942 357 1 0.27933 183 76 29.3436 MBD3 0 genome.wustl.edu 37 19 1585130 1585130 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1585130 1585130 C T SNP MBD3 ENST00000156825 human ensembl 74_37 -1 known missense c.194 p.R65H 1.000 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD3 HGNC ENSG00000071655 59 0 0 40 7 14.8936 OR10H1 0 genome.wustl.edu 37 19 15918424 15918424 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 15918424 15918424 C T SNP OR10H1 ENST00000334920 human ensembl 74_37 -1 known missense c.424 p.A142T 0.040 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 OR10H1 HGNC ENSG00000186723 183 0 0 77 31 28.7037 CYP4F11 0 genome.wustl.edu 37 19 16024702 16024702 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 16024702 16024702 G A SNP CYP4F11 ENST00000248041 human ensembl 74_37 -1 known missense c.1415 p.A472V 0.460 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 CYP4F11 HGNC ENSG00000171903 45 0 0 33 12 26.6667 TCF3 0 genome.wustl.edu 37 19 1615419 1615419 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1615419 1615419 G A SNP TCF3 ENST00000262965 human ensembl 74_37 -1 known missense c.1687 p.R563C 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 252 0 0 131 57 30.3191 EPS15L1 0 genome.wustl.edu 37 19 16515477 16515477 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 16515477 16515477 G A SNP EPS15L1 ENST00000455140 human ensembl 74_37 -1 known silent c.1350 p.D450 0.872 superfamily_Prefoldin superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_dom,smart_Ubiquitin-int_motif,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 132 0 0 55 27 32.9268 TMEM38A 0 genome.wustl.edu 37 19 16793252 16793252 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 16793252 16793252 T C SNP TMEM38A ENST00000187762 human ensembl 74_37 +1 known missense c.487 p.S163P 1.000 pfam_TRIC_channel pfam_TRIC_channel - no_errors TMEM38A HGNC ENSG00000072954 113 0 0 63 25 28.4091 ANO8 0 genome.wustl.edu 37 19 17439208 17439208 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 17439208 17439208 C T SNP ANO8 ENST00000159087 human ensembl 74_37 -1 known silent c.1989 p.A663 0.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 13 0 0 10 7 41.1765 UNC13A 0 genome.wustl.edu 37 19 17752329 17752329 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 17752329 17752329 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.2773 p.G925R 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 90 0 0 58 8 12.1212 KIAA1683 0 genome.wustl.edu 37 19 18376471 18376471 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 18376471 18376471 C T SNP KIAA1683 ENST00000392413 human ensembl 74_37 -1 known missense c.1879 p.E627K 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors KIAA1683 HGNC ENSG00000130518 155 0 0 103 10 8.84956 ADAT3 0 genome.wustl.edu 37 19 1913109 1913109 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1913109 1913109 G A SNP ADAT3 ENST00000329478 human ensembl 74_37 +1 known missense c.1063 p.V355M 0.699 superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors ADAT3 HGNC ENSG00000213638 30 0 0 5 3 37.5 SUGP1 0 genome.wustl.edu 37 19 19414687 19414687 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 19414687 19414687 A G SNP SUGP1 ENST00000606725 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SUGP1 HGNC ENSG00000105705 427 2 0.4662 217 114 34.4411 CILP2 0 genome.wustl.edu 37 19 19654938 19654938 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 19654938 19654938 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known silent c.1584 p.S528 0.016 superfamily_Carb-bd-like_fold pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 98 0 0 36 15 29.4118 GMIP 0 genome.wustl.edu 37 19 19745393 19745393 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 19745393 19745393 G A SNP GMIP ENST00000203556 human ensembl 74_37 -1 known silent c.2007 p.R669 0.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors GMIP HGNC ENSG00000089639 485 0 0 323 29 8.23864 ZNF208 0 genome.wustl.edu 37 19 22155254 22155254 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 22155254 22155254 T C SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.2582 p.Y861C 0.272 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 166 0 0 107 9 7.75862 DOT1L 0 genome.wustl.edu 37 19 2226522 2226522 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 2226522 2226522 T C SNP DOT1L ENST00000398665 human ensembl 74_37 +1 known silent c.4002 p.G1334 1.000 pirsf_Histone_H3-K79_MeTrfase_met pfam_DOT1,pirsf_Histone_H3-K79_MeTrfase_met - no_errors DOT1L HGNC ENSG00000104885 57 0 0 43 14 24.5614 ZNF729 0 genome.wustl.edu 37 19 22499301 22499301 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 22499301 22499301 G A SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.3082 p.A1028T 0.496 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 ZNF729 HGNC ENSG00000196350 101 0 0 42 23 35.3846 ZNF492 0 genome.wustl.edu 37 19 22847068 22847068 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 22847068 22847068 C T SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known silent c.597 p.C199 0.024 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 25 0 0 14 5 26.3158 ZNF254 0 genome.wustl.edu 37 19 24309406 24309406 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 24309406 24309406 A G SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.604 p.S202G 0.993 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 ZNF254 HGNC ENSG00000213096 144 0 0 74 18 19.5652 LMNB2 0 genome.wustl.edu 37 19 2434861 2434861 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 2434861 2434861 C T SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known silent c.906 p.A302 0.000 pfam_IF pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 40 0 0 20 8 28.5714 PLEKHF1 0 genome.wustl.edu 37 19 30164923 30164923 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 30164923 30164923 C T SNP PLEKHF1 ENST00000436066 human ensembl 74_37 +1 known silent c.177 p.N59 0.966 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Znf_FYVE,pfam_Pleckstrin_homology,superfamily_Znf_FYVE_PHD,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel - no_errors PLEKHF1 HGNC ENSG00000166289 163 0 0 87 36 29.2683 ZNF536 0 genome.wustl.edu 37 19 30934517 30934517 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 30934517 30934517 A T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.48 p.E16D 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 276 0 0 122 57 31.8436 ZNF536 0 genome.wustl.edu 37 19 31039479 31039479 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 31039479 31039479 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.2953 p.A985T 0.071 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 285 0 0 114 42 26.9231 ZNF536 0 genome.wustl.edu 37 19 31040415 31040415 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 31040415 31040415 T A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3889 p.L1297M 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 163 0 0 79 29 26.8519 GNA11 0 genome.wustl.edu 37 19 3121149 3121149 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 3121149 3121149 T C SNP GNA11 ENST00000078429 human ensembl 74_37 +1 known missense c.1052 p.L351P 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q,prints_Fungi_Gprotein_alpha - no_errors GNA11 HGNC ENSG00000088256 53 0 0 37 6 13.9535 ZNF507 0 genome.wustl.edu 37 19 32845706 32845706 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 32845706 32845706 A T SNP ZNF507 ENST00000311921 human ensembl 74_37 +1 known missense c.1970 p.K657M 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF507 HGNC ENSG00000168813 123 0 0 65 42 39.2523 RHPN2 0 genome.wustl.edu 37 19 33499019 33499019 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 33499019 33499019 A G SNP RHPN2 ENST00000254260 human ensembl 74_37 -1 known missense c.661 p.F221L 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,superfamily_PDZ,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom - no_errors RHPN2 HGNC ENSG00000131941 75 0 0 46 5 9.80392 ENSG00000267024 0 genome.wustl.edu 37 19 34917079 34917079 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 34917079 34917079 T C SNP ENSG00000267024 ENST00000592220 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-2588C8.8 Clone_based_vega_gene ENSG00000267024 38 0 0 17 7 29.1667 UBA2 0 genome.wustl.edu 37 19 34945231 34945231 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 34945231 34945231 A G SNP UBA2 ENST00000246548 human ensembl 74_37 +1 known missense c.1105 p.N369D 1.000 pfam_UBact_repeat,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA2 HGNC ENSG00000126261 193 0 0 123 52 29.7143 MFSD12 0 genome.wustl.edu 37 19 3551146 3551146 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 3551146 3551146 G A SNP MFSD12 ENST00000585814 human ensembl 74_37 -1 known missense c.76 p.P26S 1.000 NULL NULL - no_errors MFSD12 HGNC ENSG00000161091 48 0 0 29 13 30.9524 LGI4 0 genome.wustl.edu 37 19 35617396 35617396 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 35617396 35617396 G A SNP LGI4 ENST00000392225 human ensembl 74_37 -1 putative missense c.1154 p.T385M 1.000 NULL pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI4 HGNC ENSG00000153902 19 0 0 7 5 41.6667 CACTIN 0 genome.wustl.edu 37 19 3613205 3613205 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 3613205 3613205 A G SNP CACTIN ENST00000221899 human ensembl 74_37 -1 known missense c.1433 p.L478P 1.000 NULL pfam_Cactin_dom,pfam_Cactin_C - no_errors CACTIN HGNC ENSG00000105298 92 0 0 48 19 28.3582 UPK1A 0 genome.wustl.edu 37 19 36157789 36157789 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 36157789 36157789 C T SNP UPK1A ENST00000379013 human ensembl 74_37 +1 known silent c.75 p.I25 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1A HGNC ENSG00000105668 141 0 0 92 10 9.80392 KMT2B 0 genome.wustl.edu 37 19 36211882 36211882 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 36211882 36211882 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known nonsense c.1633 p.R545* 1.000 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 28 0 0 15 9 37.5 KMT2B 0 genome.wustl.edu 37 19 36221488 36221488 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 36221488 36221488 C T SNP KMT2B ENST00000222270 human ensembl 74_37 +1 known silent c.5247 p.C1749 0.997 pirsf_MeTrfase_trithorax,pfam_FYrich_N,smart_FYrich_N 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 536 0 0 305 126 29.2343 APLP1 0 genome.wustl.edu 37 19 36363449 36363449 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 36363449 36363449 T C SNP APLP1 ENST00000221891 human ensembl 74_37 +1 known silent c.915 p.S305 0.587 superfamily_Amyloid_glyco_E2_domain,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 322 0 0 238 13 5.17928 PIP5K1C 0 genome.wustl.edu 37 19 3641737 3641737 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 3641737 3641737 C T SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.1753 p.V585M 0.936 NULL pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 106 0 0 41 5 10.8696 CAPNS1 0 genome.wustl.edu 37 19 36637136 36637136 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 36637136 36637136 C T SNP CAPNS1 ENST00000588780 human ensembl 74_37 +1 known nonsense c.673 p.R225* 1.000 NULL pfscan_EF_hand_dom - no_errors CAPNS1 HGNC ENSG00000126247 546 2 0.364964 269 97 26.5027 THEG 0 genome.wustl.edu 37 19 375883 375883 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 375883 375883 G A SNP THEG ENST00000342640 human ensembl 74_37 -1 known missense c.88 p.R30C 0.000 NULL smart_THEG - no_errors THEG HGNC ENSG00000105549 116 1 0.854701 61 31 33.6957 ZNF540 0 genome.wustl.edu 37 19 38103201 38103201 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 38103201 38103201 A G SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known silent c.1020 p.G340 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 ZNF540 HGNC ENSG00000171817 134 0 0 97 9 8.49057 ZNF781 0 genome.wustl.edu 37 19 38160950 38160950 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 38160950 38160950 C T SNP ZNF781 ENST00000358582 human ensembl 74_37 -1 known missense c.100 p.E34K 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF781 HGNC ENSG00000196381 369 1 0.27027 248 24 8.82353 DPF1 0 genome.wustl.edu 37 19 38713211 38713211 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 38713211 38713211 A G SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known missense c.248 p.M83T 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 52 0 0 18 5 21.7391 DPF1 0 genome.wustl.edu 37 19 38713250 38713250 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 38713250 38713250 G A SNP DPF1 ENST00000355526 human ensembl 74_37 -1 known missense c.209 p.S70L 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_C2H2-like,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2 - no_errors DPF1 HGNC ENSG00000011332 56 0 0 21 8 27.5862 RYR1 0 genome.wustl.edu 37 19 38934419 38934419 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 38934419 38934419 T G SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.407 p.L136R 0.999 pfam_Ins145_P3_rcpt,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 130 0 0 67 29 30.2083 RYR1 0 genome.wustl.edu 37 19 38948774 38948774 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 38948774 38948774 T C SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.2009 p.V670A 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 189 0 0 102 43 29.6552 RYR1 0 genome.wustl.edu 37 19 39002913 39002913 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 39002913 39002913 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.9262 p.V3088M 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 140 0 0 78 20 20.4082 RYR1 0 genome.wustl.edu 37 19 39051818 39051818 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 39051818 39051818 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known silent c.12348 p.A4116 0.081 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 147 0 0 68 39 36.4486 ACTN4 0 genome.wustl.edu 37 19 39214810 39214810 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 39214810 39214810 C T SNP ACTN4 ENST00000252699 human ensembl 74_37 +1 known missense c.1706 p.A569V 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 159 0 0 107 6 5.30973 CAPN12 0 genome.wustl.edu 37 19 39232471 39232471 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 39232471 39232471 C T SNP CAPN12 ENST00000328867 human ensembl 74_37 -1 known missense c.506 p.R169H 0.994 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease 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 CAPN12 HGNC ENSG00000182472 64 0 0 37 12 24.4898 PAK4 0 genome.wustl.edu 37 19 39669106 39669106 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 39669106 39669106 C T SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known nonsense c.1663 p.R555* 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_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 29 0 0 12 8 40 PAK4 0 genome.wustl.edu 37 19 39669137 39669137 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 39669137 39669137 A G SNP PAK4 ENST00000358301 human ensembl 74_37 +1 known missense c.1694 p.E565G 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_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK4 HGNC ENSG00000130669 45 0 0 25 7 21.875 PAF1 0 genome.wustl.edu 37 19 39876979 39876979 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 39876979 39876979 G A SNP PAF1 ENST00000221265 human ensembl 74_37 -1 known silent c.1248 p.S416 0.981 pfam_RNA_pol_II-assoc_Paf1 pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 450 0 0 207 93 31 PIAS4 0 genome.wustl.edu 37 19 4013158 4013158 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 4013158 4013158 A G SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known missense c.265 p.T89A 0.007 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 175 0 0 105 8 7.07965 FBL 0 genome.wustl.edu 37 19 40328367 40328367 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 40328367 40328367 T G SNP FBL ENST00000221801 human ensembl 74_37 -1 known missense c.666 p.K222N 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 232 0 0 110 52 32.0988 ZNF780B 0 genome.wustl.edu 37 19 40540940 40540940 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 40540940 40540940 C G SNP ZNF780B ENST00000434248 human ensembl 74_37 -1 known missense c.1826 p.G609A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF780B HGNC ENSG00000128000 248 0 0 152 8 5 MAP3K10 0 genome.wustl.edu 37 19 40698374 40698374 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 40698374 40698374 G T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.436 p.A146S 1.000 pirsf_MAPKKK9/10/11,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_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 86 0 0 55 6 9.83607 MAP3K10 0 genome.wustl.edu 37 19 40712031 40712031 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 40712031 40712031 C T SNP MAP3K10 ENST00000253055 human ensembl 74_37 +1 known missense c.1402 p.R468W 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MAP3K10 HGNC ENSG00000130758 60 0 0 22 14 38.8889 PRX 0 genome.wustl.edu 37 19 40899994 40899994 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 40899994 40899994 C T SNP PRX ENST00000324001 human ensembl 74_37 -1 known missense c.4265 p.R1422Q 0.879 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 171 0 0 92 39 29.771 SPTBN4 0 genome.wustl.edu 37 19 41012169 41012169 + Silent SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41012169 41012169 G C SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known silent c.1692 p.G564 0.999 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 263 0 0 113 51 31.0976 SHKBP1 0 genome.wustl.edu 37 19 41086783 41086783 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41086783 41086783 C T SNP SHKBP1 ENST00000291842 human ensembl 74_37 +1 known missense c.785 p.A262V 1.000 superfamily_WD40_repeat_dom pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 170 0 0 125 15 10.7143 SHKBP1 0 genome.wustl.edu 37 19 41089337 41089337 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41089337 41089337 G A SNP SHKBP1 ENST00000291842 human ensembl 74_37 +1 known missense c.994 p.A332T 0.998 superfamily_WD40_repeat_dom pfam_T1-type_BTB,pfam_WD40_repeat,superfamily_BTB/POZ_fold,superfamily_WD40_repeat_dom,smart_BTB/POZ-like,smart_WD40_repeat,pfscan_BTB/POZ-like - no_errors SHKBP1 HGNC ENSG00000160410 21 0 0 13 6 31.5789 ADCK4 0 genome.wustl.edu 37 19 41208524 41208524 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41208524 41208524 C T SNP ADCK4 ENST00000324464 human ensembl 74_37 -1 known missense c.874 p.A292T 0.496 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK4 HGNC ENSG00000123815 184 0 0 126 19 13.1034 CYP2B7P1 0 genome.wustl.edu 37 19 41430241 41430241 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41430241 41430241 C T SNP CYP2B7P1 ENST00000599198 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CYP2B7P1 HGNC ENSG00000256612 169 0 0 88 34 27.8689 AXL 0 genome.wustl.edu 37 19 41762394 41762394 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41762394 41762394 G A SNP AXL ENST00000301178 human ensembl 74_37 +1 known missense c.2074 p.G692R 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_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 282 0 0 121 64 34.5946 SIRT6 0 genome.wustl.edu 37 19 4179214 4179214 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 4179214 4179214 G A SNP SIRT6 ENST00000337491 human ensembl 74_37 -1 known silent c.264 p.S88 0.084 pfam_Sirtuin,pfscan_Ssirtuin_cat_dom pfam_Sirtuin,pfscan_Ssirtuin_cat_dom - no_errors SIRT6 HGNC ENSG00000077463 27 0 0 20 3 13.0435 B9D2 0 genome.wustl.edu 37 19 41860690 41860690 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41860690 41860690 C T SNP B9D2 ENST00000243578 human ensembl 74_37 -1 known missense c.443 p.R148H 1.000 pfam_B9_dom pfam_B9_dom - no_errors B9D2 HGNC ENSG00000123810 131 0 0 42 31 42.4658 BCKDHA 0 genome.wustl.edu 37 19 41884359 41884359 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41884359 41884359 T C SNP BCKDHA ENST00000595085 human ensembl 74_37 +1 known missense c.145 p.F49L 0.311 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 173 0 0 74 37 33.3333 ATP1A3 0 genome.wustl.edu 37 19 42474440 42474440 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 42474440 42474440 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.2439 p.A813 0.887 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 80 0 0 42 17 28.8136 POU2F2 0 genome.wustl.edu 37 19 42599726 42599726 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 42599726 42599726 G A SNP POU2F2 ENST00000342301 human ensembl 74_37 -1 known missense c.925 p.R309C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F2 HGNC ENSG00000028277 61 0 0 22 12 35.2941 GSK3A 0 genome.wustl.edu 37 19 42736740 42736740 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 42736740 42736740 C T SNP GSK3A ENST00000222330 human ensembl 74_37 -1 known missense c.1193 p.C398Y 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors GSK3A HGNC ENSG00000105723 76 0 0 65 5 7.14286 MEGF8 0 genome.wustl.edu 37 19 42873096 42873096 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 42873096 42873096 T C SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.6583 p.C2195R 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 121 0 0 84 11 11.5789 MEGF8 0 genome.wustl.edu 37 19 42879938 42879938 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 42879938 42879938 C A SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.7549 p.P2517T 1.000 NULL pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 33 0 0 17 4 19.0476 PSG1 0 genome.wustl.edu 37 19 43382329 43382329 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 43382329 43382329 G C SNP PSG1 ENST00000312439 human ensembl 74_37 -1 known missense c.166 p.H56D 0.002 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG1 HGNC ENSG00000231924 554 0 0 365 35 8.75 SH3GL1 0 genome.wustl.edu 37 19 4361738 4361738 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 4361738 4361738 G A SNP SH3GL1 ENST00000269886 human ensembl 74_37 -1 known silent c.966 p.D322 0.247 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox pfam_BAR_dom,pfam_SH3_domain,pfam_BAR_dom-cont,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox - no_errors SH3GL1 HGNC ENSG00000141985 99 0 0 35 27 43.5484 ZNF575 0 genome.wustl.edu 37 19 44039617 44039617 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 44039617 44039617 C T SNP ZNF575 ENST00000314228 human ensembl 74_37 +1 known silent c.516 p.T172 0.129 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF575 HGNC ENSG00000176472 95 0 0 57 27 32.1429 KCNN4 0 genome.wustl.edu 37 19 44278355 44278355 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 44278355 44278355 G A SNP KCNN4 ENST00000262888 human ensembl 74_37 -1 known silent c.672 p.S224 0.284 pfam_2pore_dom_K_chnl_dom pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom - no_errors KCNN4 HGNC ENSG00000104783 37 0 0 17 7 29.1667 CHAF1A 0 genome.wustl.edu 37 19 4433467 4433467 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 4433467 4433467 G A SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known silent c.2604 p.S868 0.014 NULL pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 136 0 0 67 34 33.6634 ZNF221 0 genome.wustl.edu 37 19 44469186 44469186 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 44469186 44469186 C T SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known nonsense c.166 p.R56* 0.571 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 ZNF221 HGNC ENSG00000159905 456 0 0 224 81 26.5574 ZNF234 0 genome.wustl.edu 37 19 44661316 44661316 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 44661316 44661316 T C SNP ZNF234 ENST00000426739 human ensembl 74_37 +1 known missense c.1147 p.Y383H 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 ZNF234 HGNC ENSG00000263002 80 0 0 48 3 5.88235 ZNF235 0 genome.wustl.edu 37 19 44792006 44792006 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 44792006 44792006 A G SNP ZNF235 ENST00000291182 human ensembl 74_37 -1 known missense c.1582 p.S528P 0.494 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 ZNF235 HGNC ENSG00000159917 186 0 0 93 58 38.4106 CBLC 0 genome.wustl.edu 37 19 45296787 45296787 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 45296787 45296787 C T SNP CBLC ENST00000270279 human ensembl 74_37 +1 known silent c.1194 p.A398 0.024 NULL 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 43 0 0 13 10 43.4783 LRG1 0 genome.wustl.edu 37 19 4538098 4538098 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 4538098 4538098 G A SNP LRG1 ENST00000306390 human ensembl 74_37 -1 known missense c.898 p.P300S 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRG1 HGNC ENSG00000171236 198 0 0 127 8 5.92593 NKPD1 0 genome.wustl.edu 37 19 45655873 45655873 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 45655873 45655873 G A SNP NKPD1 ENST00000317951 human ensembl 74_37 -1 known missense c.1822 p.R608C 0.970 pfam_KAP_NTPase pfam_KAP_NTPase - no_errors NKPD1 HGNC ENSG00000179846 24 0 0 6 9 60 FOSB 0 genome.wustl.edu 37 19 45975912 45975912 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 45975912 45975912 C T SNP FOSB ENST00000353609 human ensembl 74_37 +1 known missense c.659 p.P220L 1.000 prints_Leuzip_Fos pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 102 0 0 42 24 36.3636 FOSB 0 genome.wustl.edu 37 19 45976210 45976210 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 45976210 45976210 C T SNP FOSB ENST00000353609 human ensembl 74_37 +1 known silent c.957 p.R319 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSB HGNC ENSG00000125740 245 0 0 188 13 6.46766 GPR4 0 genome.wustl.edu 37 19 46094726 46094726 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 46094726 46094726 G A SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known silent c.399 p.T133 0.479 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 152 0 0 76 44 36.6667 FOXA3 0 genome.wustl.edu 37 19 46375539 46375539 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 46375539 46375539 C T SNP FOXA3 ENST00000302177 human ensembl 74_37 +1 known silent c.276 p.Y92 0.007 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA3 HGNC ENSG00000170608 72 0 0 35 11 23.913 CCDC8 0 genome.wustl.edu 37 19 46915764 46915764 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 46915764 46915764 C T SNP CCDC8 ENST00000307522 human ensembl 74_37 -1 known missense c.304 p.A102T 0.997 NULL NULL - no_errors CCDC8 HGNC ENSG00000169515 213 0 0 100 36 26.4706 ARHGAP35 0 genome.wustl.edu 37 19 47425365 47425365 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 47425365 47425365 C T SNP ARHGAP35 ENST00000404338 human ensembl 74_37 +1 known nonsense c.3433 p.R1145* 1.000 NULL pfam_RhoGAP_dom,pfam_Small_GTPase,pfam_FF_domain,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP35 HGNC ENSG00000160007 68 0 0 28 13 31.7073 ZC3H4 0 genome.wustl.edu 37 19 47570574 47570574 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 47570574 47570574 A G SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.2951 p.L984P 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 279 0 0 149 15 9.14634 FEM1A 0 genome.wustl.edu 37 19 4792751 4792751 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 4792751 4792751 A G SNP FEM1A ENST00000269856 human ensembl 74_37 +1 known silent c.885 p.E295 0.969 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 FEM1A HGNC ENSG00000141965 107 0 0 71 32 31.068 SLC8A2 0 genome.wustl.edu 37 19 47969099 47969099 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 47969099 47969099 C T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.562 p.E188K 1.000 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 64 0 0 33 11 25 TICAM1 0 genome.wustl.edu 37 19 4817394 4817394 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 4817394 4817394 C T SNP TICAM1 ENST00000248244 human ensembl 74_37 -1 known silent c.996 p.T332 0.000 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 153 0 0 73 32 30.4762 GLTSCR2 0 genome.wustl.edu 37 19 48254217 48254217 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 48254217 48254217 C T SNP GLTSCR2 ENST00000246802 human ensembl 74_37 +1 known silent c.451 p.L151 0.998 pfam_P60-like,pirsf_Gltscr2 pfam_P60-like,pirsf_Gltscr2 - no_errors GLTSCR2 HGNC ENSG00000105373 22 0 0 5 2 28.5714 TMEM143 0 genome.wustl.edu 37 19 48863431 48863431 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 48863431 48863431 T C SNP TMEM143 ENST00000293261 human ensembl 74_37 -1 known silent c.267 p.E89 0.999 NULL pfam_DUF3754 - no_errors TMEM143 HGNC ENSG00000161558 60 0 0 33 8 19.5122 KCNJ14 0 genome.wustl.edu 37 19 48965192 48965192 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 48965192 48965192 G A SNP KCNJ14 ENST00000342291 human ensembl 74_37 +1 known missense c.211 p.A71T 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir - no_errors KCNJ14 HGNC ENSG00000182324 45 0 0 18 8 30.7692 TULP2 0 genome.wustl.edu 37 19 49400605 49400605 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 49400605 49400605 C T SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known silent c.81 p.Q27 1.000 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 46 0 0 29 4 12.1212 CGB8 0 genome.wustl.edu 37 19 49551986 49551986 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 49551986 49551986 A G SNP CGB8 ENST00000448456 human ensembl 74_37 -1 known missense c.11 p.F4S 0.946 NULL pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors CGB8 HGNC ENSG00000213030 396 1 0.251889 283 23 7.51634 SLC17A7 0 genome.wustl.edu 37 19 49934663 49934663 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 49934663 49934663 G A SNP SLC17A7 ENST00000221485 human ensembl 74_37 -1 known missense c.1193 p.S398L 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A7 HGNC ENSG00000104888 94 0 0 66 8 10.8108 FUZ 0 genome.wustl.edu 37 19 50310496 50310496 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 50310496 50310496 A C SNP FUZ ENST00000313777 human ensembl 74_37 -1 known missense c.1169 p.L390R 1.000 NULL NULL - no_errors FUZ HGNC ENSG00000010361 71 0 0 44 13 22.807 ENSG00000268047 0 genome.wustl.edu 37 19 50357836 50357836 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 50357836 50357836 T C SNP ENSG00000268047 ENST00000601211 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC018766.6 Clone_based_vega_gene ENSG00000268047 84 0 0 32 15 31.9149 ATF5 0 genome.wustl.edu 37 19 50436306 50436306 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 50436306 50436306 T C SNP ATF5 ENST00000423777 human ensembl 74_37 +1 known missense c.806 p.I269T 0.998 smart_bZIP,pfscan_bZIP pfam_bZIP,smart_bZIP,pfscan_bZIP - no_errors ATF5 HGNC ENSG00000169136 95 0 0 33 13 28.2609 MYH14 0 genome.wustl.edu 37 19 50784930 50784930 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 50784930 50784930 G A SNP MYH14 ENST00000262269 human ensembl 74_37 +1 known missense c.4370 p.R1457Q 0.847 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 29 0 0 19 7 26.9231 SHANK1 0 genome.wustl.edu 37 19 51169816 51169816 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 51169816 51169816 G A SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.5425 p.R1809C 0.704 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 23 0 0 9 9 50 SHANK1 0 genome.wustl.edu 37 19 51171765 51171765 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 51171765 51171765 T C SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.3476 p.N1159S 1.000 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 54 0 0 23 8 25.8065 SHANK1 0 genome.wustl.edu 37 19 51201124 51201124 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 51201124 51201124 T C SNP SHANK1 ENST00000391814 human ensembl 74_37 -1 known missense c.1837 p.N613D 0.043 superfamily_SH3_domain,pfscan_SH3_domain pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK1 HGNC ENSG00000161681 64 0 0 42 6 12.5 CTU1 0 genome.wustl.edu 37 19 51602381 51602381 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 51602381 51602381 T C SNP CTU1 ENST00000421832 human ensembl 74_37 -1 known missense c.524 p.D175G 1.000 pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA pfam_tRNA-lysidine/thiocyt_synth,pirsf_2-thiocytidine_tRNA_synth_TtcA - no_errors CTU1 HGNC ENSG00000142544 22 0 0 8 4 33.3333 HAS1 0 genome.wustl.edu 37 19 52216817 52216817 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 52216817 52216817 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1621 p.R541C 0.369 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 11 0 0 2 4 66.6667 ZNF577 0 genome.wustl.edu 37 19 52381737 52381737 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 52381737 52381737 C T SNP ZNF577 ENST00000301399 human ensembl 74_37 -1 known missense c.92 p.G31D 0.007 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 ZNF577 HGNC ENSG00000161551 145 0 0 90 27 23.0769 ZNF480 0 genome.wustl.edu 37 19 52826015 52826015 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 52826015 52826015 T C SNP ZNF480 ENST00000468240 human ensembl 74_37 +1 known silent c.1512 p.I504 0.311 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 ZNF480 HGNC ENSG00000198464 141 0 0 82 19 18.8119 ZNF600 0 genome.wustl.edu 37 19 53270656 53270656 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 53270656 53270656 G A SNP ZNF600 ENST00000338230 human ensembl 74_37 -1 known missense c.353 p.A118V 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF600 HGNC ENSG00000189190 261 0 0 128 64 33.3333 ZNF845 0 genome.wustl.edu 37 19 53854916 53854916 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 53854916 53854916 A G SNP ZNF845 ENST00000458035 human ensembl 74_37 +1 known missense c.988 p.N330D 0.020 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 ZNF845 HGNC ENSG00000213799 204 0 0 113 20 15.0376 ZNF761 0 genome.wustl.edu 37 19 53957988 53957988 + RNA SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 53957988 53957988 T A SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF761 HGNC ENSG00000160336 160 0 0 81 28 25.6881 ZNF761 0 genome.wustl.edu 37 19 53959361 53959361 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 53959361 53959361 A G SNP ZNF761 ENST00000334095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF761 HGNC ENSG00000160336 256 0 0 165 22 11.7647 MIR519A1 0 genome.wustl.edu 37 19 54255723 54255723 + RNA SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 54255723 54255723 G T SNP MIR519A1 ENST00000385257 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors MIR519A1 HGNC ENSG00000207992 178 0 0 115 10 8 PRKCG 0 genome.wustl.edu 37 19 54401306 54401306 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 54401306 54401306 C T SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known missense c.1033 p.R345C 1.000 pirsf_Protein_kinase_C_a/b/g pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_C2_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Protein_kinase_C_a/b/g,prints_DAG/PE-bd,prints_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCG HGNC ENSG00000126583 133 0 0 70 23 24.7312 LENG1 0 genome.wustl.edu 37 19 54659550 54659550 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 54659550 54659550 T C SNP LENG1 ENST00000222224 human ensembl 74_37 -1 known missense c.704 p.E235G 0.828 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 51 0 0 19 6 24 LILRB2 0 genome.wustl.edu 37 19 54783435 54783435 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 54783435 54783435 G T SNP LILRB2 ENST00000391749 human ensembl 74_37 -1 known silent c.423 p.T141 0.049 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB2 HGNC ENSG00000131042 195 0 0 135 40 22.8571 LENG8 0 genome.wustl.edu 37 19 54966602 54966602 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 54966602 54966602 A G SNP LENG8 ENST00000326764 human ensembl 74_37 +1 known missense c.881 p.K294R 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors LENG8 HGNC ENSG00000167615 133 0 0 88 6 6.38298 CDC42EP5 0 genome.wustl.edu 37 19 54976609 54976609 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 54976609 54976609 G A SNP CDC42EP5 ENST00000301200 human ensembl 74_37 -1 known silent c.123 p.D41 1.000 pfam_CRIB_dom,smart_CRIB_dom pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP5 HGNC ENSG00000167617 13 0 0 8 6 42.8571 LILRA2 0 genome.wustl.edu 37 19 55085865 55085865 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 55085865 55085865 G T SNP LILRA2 ENST00000251377 human ensembl 74_37 +1 known missense c.168 p.E56D 0.000 smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pirsf_A1B_glyco/leuk_Ig-like_rcpt,pfscan_Ig-like_dom - no_errors LILRA2 HGNC ENSG00000239998 181 0 0 84 36 30 PPP1R12C 0 genome.wustl.edu 37 19 55603866 55603866 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 55603866 55603866 C T SNP PPP1R12C ENST00000263433 human ensembl 74_37 -1 known missense c.1999 p.D667N 0.001 pirsf_Pase-1_reg_su_12A/B/C_euk pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R12C HGNC ENSG00000125503 33 0 0 23 8 25.8065 HSPBP1 0 genome.wustl.edu 37 19 55773978 55773978 + Nonstop_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 55773978 55773978 A G SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known nonstop c.1078 p.*360R 1.000 NULL superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 44 0 0 16 10 38.4615 NLRP9 0 genome.wustl.edu 37 19 56223792 56223792 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 56223792 56223792 C T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.2666 p.C889Y 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 149 0 0 77 32 29.3578 NLRP4 0 genome.wustl.edu 37 19 56368987 56368987 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 56368987 56368987 G A SNP NLRP4 ENST00000587891 human ensembl 74_37 +1 known missense c.3 p.M1I 0.000 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRP4 HGNC ENSG00000160505 75 0 0 39 12 23.5294 LONP1 0 genome.wustl.edu 37 19 5700824 5700824 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 5700824 5700824 C T SNP LONP1 ENST00000360614 human ensembl 74_37 -1 known missense c.1482 p.M494I 1.000 pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_P-loop_NTPase,tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_Prk_AAA_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_P-loop_NTPase,superfamily_PUA-like_domain,smart_Pept_S16_N,smart_AAA+_ATPase,tigrfam_Lon_bac/euk-typ - no_errors LONP1 HGNC ENSG00000196365 143 0 0 95 7 6.86275 ZNF835 0 genome.wustl.edu 37 19 57175344 57175344 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 57175344 57175344 T C SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known missense c.1223 p.H408R 0.977 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 108 1 0.917431 64 5 7.24638 ZNF835 0 genome.wustl.edu 37 19 57175421 57175421 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 57175421 57175421 G A SNP ZNF835 ENST00000537055 human ensembl 74_37 -1 known silent c.1146 p.L382 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF835 HGNC ENSG00000127903 70 0 0 34 12 26.087 ZNF460 0 genome.wustl.edu 37 19 57802980 57802980 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 57802980 57802980 T C SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known silent c.1071 p.I357 0.174 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 ZNF460 HGNC ENSG00000197714 121 0 0 88 13 12.8713 PRR22 0 genome.wustl.edu 37 19 5784045 5784045 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 5784045 5784045 G A SNP PRR22 ENST00000419421 human ensembl 74_37 -1 known silent c.213 p.C71 1.000 NULL NULL - no_errors PRR22 HGNC ENSG00000212123 123 1 0.806452 69 46 40 ZNF773 0 genome.wustl.edu 37 19 58017804 58017804 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 58017804 58017804 A G SNP ZNF773 ENST00000282292 human ensembl 74_37 +1 known missense c.341 p.Q114R 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF773 HGNC ENSG00000152439 174 0 0 107 7 6.14035 ZNF814 0 genome.wustl.edu 37 19 58384561 58384561 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 58384561 58384561 C T SNP ZNF814 ENST00000435989 human ensembl 74_37 -1 known missense c.2197 p.A733T 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF814 HGNC ENSG00000204514 66 0 0 24 16 40 ZNF606 0 genome.wustl.edu 37 19 58490719 58490719 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 58490719 58490719 A G SNP ZNF606 ENST00000341164 human ensembl 74_37 -1 known silent c.1329 p.L443 0.201 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 ZNF606 HGNC ENSG00000166704 81 0 0 25 18 41.8605 ZNF135 0 genome.wustl.edu 37 19 58578892 58578892 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 58578892 58578892 T A SNP ZNF135 ENST00000401053 human ensembl 74_37 +1 known missense c.1112 p.I371N 0.972 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 ZNF135 HGNC ENSG00000176293 89 0 0 47 5 9.61538 ZNF584 0 genome.wustl.edu 37 19 58926931 58926931 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 58926931 58926931 G T SNP ZNF584 ENST00000306910 human ensembl 74_37 +1 known missense c.210 p.E70D 0.089 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 ZNF584 HGNC ENSG00000171574 171 0 0 84 39 31.7073 C3 0 genome.wustl.edu 37 19 6707497 6707497 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 6707497 6707497 G A SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.2027 p.T676M 0.717 superfamily_Anaphylatoxin_comp_syst pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 162 1 0.613497 78 37 32.1739 ZNF557 0 genome.wustl.edu 37 19 7075715 7075715 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 7075715 7075715 C T SNP ZNF557 ENST00000252840 human ensembl 74_37 +1 known silent c.81 p.G27 0.017 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 ZNF557 HGNC ENSG00000130544 209 0 0 108 36 25 PALM 0 genome.wustl.edu 37 19 736048 736048 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 736048 736048 A G SNP PALM ENST00000338448 human ensembl 74_37 +1 known missense c.472 p.T158A 0.017 pfam_Paralemmin pfam_Paralemmin - no_errors PALM HGNC ENSG00000099864 394 0 0 262 28 9.65517 MCOLN1 0 genome.wustl.edu 37 19 7589892 7589892 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 7589892 7589892 C T SNP MCOLN1 ENST00000264079 human ensembl 74_37 +1 known missense c.77 p.A26V 0.000 NULL pfam_PKD1_2_channel,superfamily_Glycoside_hydrolase_SF - no_errors MCOLN1 HGNC ENSG00000090674 62 0 0 37 7 15.9091 CAMSAP3 0 genome.wustl.edu 37 19 7677000 7677000 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 7677000 7677000 C T SNP CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known missense c.1702 p.P568S 0.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 75 0 0 40 6 13.0435 ELAVL1 0 genome.wustl.edu 37 19 8028431 8028431 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 8028431 8028431 T C SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.998 p.N333S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL1 HGNC ENSG00000066044 237 1 0.420168 118 46 28.0488 FBN3 0 genome.wustl.edu 37 19 8137979 8137979 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 8137979 8137979 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.7905 p.G2635 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN 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 193 0 0 109 45 29.2208 FBN3 0 genome.wustl.edu 37 19 8196449 8196449 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 8196449 8196449 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.1979 p.A660V 1.000 pfam_TB_dom,superfamily_TB_dom,pirsf_FBN 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 218 0 0 98 40 28.9855 AZU1 0 genome.wustl.edu 37 19 828274 828274 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 828274 828274 C T SNP AZU1 ENST00000233997 human ensembl 74_37 +1 known missense c.103 p.P35S 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors AZU1 HGNC ENSG00000172232 178 0 0 92 29 23.9669 ANGPTL4 0 genome.wustl.edu 37 19 8436327 8436327 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 8436327 8436327 C T SNP ANGPTL4 ENST00000301455 human ensembl 74_37 +1 known silent c.960 p.S320 0.000 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 ANGPTL4 HGNC ENSG00000167772 102 0 0 43 20 31.746 PRAM1 0 genome.wustl.edu 37 19 8563852 8563852 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 8563852 8563852 G A SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known silent c.840 p.D280 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 111 0 0 64 9 12.3288 ADAMTS10 0 genome.wustl.edu 37 19 8668717 8668717 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 8668717 8668717 C T SNP ADAMTS10 ENST00000270328 human ensembl 74_37 -1 known missense c.487 p.G163S 0.234 pfam_Peptidase_M12B_N pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS10 HGNC ENSG00000142303 98 0 0 49 23 31.9444 MUC16 0 genome.wustl.edu 37 19 9048747 9048747 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9048747 9048747 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.32884 p.T10962A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 211 0 0 111 44 28.3871 MUC16 0 genome.wustl.edu 37 19 9056901 9056901 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9056901 9056901 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.30545 p.T10182I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 106 0 0 59 22 27.1605 MUC16 0 genome.wustl.edu 37 19 9063940 9063940 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9063940 9063940 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.23506 p.S7836T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 124 0 0 88 5 5.37634 MUC16 0 genome.wustl.edu 37 19 9066859 9066859 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9066859 9066859 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.20587 p.T6863A 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 213 0 0 83 67 44.6667 MUC16 0 genome.wustl.edu 37 19 9075275 9075275 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9075275 9075275 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.12171 p.I4057M 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 272 0 0 126 69 35.3846 MUC16 0 genome.wustl.edu 37 19 9084585 9084585 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9084585 9084585 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.7230 p.S2410 0.132 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 89 0 0 29 19 39.5833 ZNF317 0 genome.wustl.edu 37 19 9270967 9270967 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9270967 9270967 T C SNP ZNF317 ENST00000247956 human ensembl 74_37 +1 known missense c.646 p.Y216H 0.018 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 ZNF317 HGNC ENSG00000130803 82 0 0 52 15 22.3881 ZNF559 0 genome.wustl.edu 37 19 9452554 9452554 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9452554 9452554 G A SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.427 p.G143R 0.282 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 ZNF559 HGNC ENSG00000188321 222 0 0 111 47 29.7468 NPAS2 0 genome.wustl.edu 37 2 101591324 101591324 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 101591324 101591324 G T SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known silent c.1395 p.S465 0.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 104 1 0.952381 80 6 6.97674 IL1R1 0 genome.wustl.edu 37 2 102781763 102781763 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 102781763 102781763 A G SNP IL1R1 ENST00000233946 human ensembl 74_37 +1 known missense c.485 p.K162R 1.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R1 HGNC ENSG00000115594 49 0 0 49 4 7.54717 IL1R1 0 genome.wustl.edu 37 2 102782603 102782603 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 102782603 102782603 C T SNP IL1R1 ENST00000233946 human ensembl 74_37 +1 known missense c.517 p.H173Y 0.000 smart_Ig_sub,pfscan_Ig-like_dom,prints_IL-1_rcpt_I-typ pfam_TIR_dom,pfam_Ig_I-set,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_I-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R1 HGNC ENSG00000115594 138 0 0 62 36 36.7347 POU3F3 0 genome.wustl.edu 37 2 105472990 105472990 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 105472990 105472990 C T SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1022 p.A341V 1.000 pfam_POU_specific,superfamily_Lambda_DNA-bd_dom,smart_POU_specific,pirsf_Transcription_factor_POU,pfscan_POU_specific,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 112 0 0 67 27 28.7234 HPCAL1 0 genome.wustl.edu 37 2 10560033 10560033 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 10560033 10560033 G A SNP HPCAL1 ENST00000307845 human ensembl 74_37 +1 known silent c.150 p.K50 1.000 NULL 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 99 0 0 41 20 32.7869 MRPS9 0 genome.wustl.edu 37 2 105716151 105716151 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 105716151 105716151 C T SNP MRPS9 ENST00000258455 human ensembl 74_37 +1 known missense c.1123 p.R375C 0.874 pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold pfam_Ribosomal_S9,superfamily_Ribosomal_S5_D2-typ_fold - no_errors MRPS9 HGNC ENSG00000135972 116 0 0 44 29 39.726 LIMS1 0 genome.wustl.edu 37 2 109292351 109292351 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 109292351 109292351 A G SNP LIMS1 ENST00000542845 human ensembl 74_37 +1 known missense c.698 p.D233G 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS1 HGNC ENSG00000169756 131 0 0 98 8 7.54717 RANBP2 0 genome.wustl.edu 37 2 109382784 109382784 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 109382784 109382784 A G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.5789 p.Q1930R 0.934 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 403 0 0 209 54 20.5323 RANBP2 0 genome.wustl.edu 37 2 109382791 109382791 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 109382791 109382791 T G SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.5796 p.N1932K 0.048 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 371 0 0 191 43 18.3761 RANBP2 0 genome.wustl.edu 37 2 109388156 109388156 + Splice_Site SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 109388156 109388156 G T SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known splice_site c.7850-1 e21-1 0.986 - - - no_errors RANBP2 HGNC ENSG00000153201 308 0 0 150 71 32.1267 BUB1 0 genome.wustl.edu 37 2 111413438 111413438 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 111413438 111413438 C T SNP BUB1 ENST00000302759 human ensembl 74_37 -1 known missense c.1754 p.R585H 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors BUB1 HGNC ENSG00000169679 444 0 0 262 88 25.1429 BCL2L11 0 genome.wustl.edu 37 2 111881525 111881525 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 111881525 111881525 C T SNP BCL2L11 ENST00000393256 human ensembl 74_37 +1 known missense c.203 p.A68V 0.997 pirsf_Bcl-2-like_11 pfam_Bcl-x_interacting_BH3_dom,pfam_Apoptosis_Bim_N,pirsf_Bcl-2-like_11 - no_errors BCL2L11 HGNC ENSG00000153094 131 0 0 76 24 24 PQLC3 0 genome.wustl.edu 37 2 11318056 11318056 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 11318056 11318056 T C SNP PQLC3 ENST00000487471 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PQLC3 HGNC ENSG00000162976 19 0 0 9 6 40 IWS1 0 genome.wustl.edu 37 2 128249592 128249592 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 128249592 128249592 G T SNP IWS1 ENST00000295321 human ensembl 74_37 -1 known missense c.2002 p.P668T 1.000 pfam_TFIIS_N,superfamily_TFIIS_N pfam_TFIIS_N,superfamily_TFIIS_N - no_errors IWS1 HGNC ENSG00000163166 143 0 0 76 22 22.449 SAP130 0 genome.wustl.edu 37 2 128750826 128750826 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 128750826 128750826 T C SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.1490 p.Y497C 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 254 0 0 104 60 36.5854 CCDC74B 0 genome.wustl.edu 37 2 130897491 130897491 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 130897491 130897491 A G SNP CCDC74B ENST00000392984 human ensembl 74_37 -1 known missense c.1286 p.V429A 0.976 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 128 0 0 79 10 11.236 SMPD4 0 genome.wustl.edu 37 2 130912735 130912735 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 130912735 130912735 C T SNP SMPD4 ENST00000409031 human ensembl 74_37 -1 known missense c.1504 p.A502T 1.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 118 0 0 81 9 10 SMPD4 0 genome.wustl.edu 37 2 130931134 130931134 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 130931134 130931134 G A SNP SMPD4 ENST00000339679 human ensembl 74_37 -1 known missense c.76 p.R26C 0.000 NULL NULL - no_errors SMPD4 HGNC ENSG00000136699 78 0 0 44 9 16.9811 POTEI 0 genome.wustl.edu 37 2 131266727 131266727 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 131266727 131266727 A G SNP POTEI ENST00000451531 human ensembl 74_37 -1 novel missense c.82 p.C28R 0.028 NULL 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 POTEI HGNC ENSG00000196834 74 0 0 41 23 35.9375 CCDC74A 0 genome.wustl.edu 37 2 132290615 132290615 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 132290615 132290615 T C SNP CCDC74A ENST00000295171 human ensembl 74_37 +1 known missense c.980 p.V327A 0.889 NULL NULL - no_errors CCDC74A HGNC ENSG00000163040 105 0 0 47 8 14.5455 UBXN4 0 genome.wustl.edu 37 2 136530012 136530012 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 136530012 136530012 G A SNP UBXN4 ENST00000272638 human ensembl 74_37 +1 known missense c.845 p.R282H 1.000 NULL pfam_UBX,superfamily_Thioredoxin-like_fold,smart_UBX,pfscan_UBX - no_errors UBXN4 HGNC ENSG00000144224 128 0 0 84 40 32.2581 LRP1B 0 genome.wustl.edu 37 2 141143483 141143483 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 141143483 141143483 T C SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.10510 p.N3504D 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 139 0 0 71 5 6.57895 LRP1B 0 genome.wustl.edu 37 2 141356355 141356355 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 141356355 141356355 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.7039 p.S2347P 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 121 0 0 55 4 6.77966 LRP1B 0 genome.wustl.edu 37 2 141806579 141806579 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 141806579 141806579 C G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.1765 p.E589Q 0.323 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 234 0 0 110 47 29.9363 KYNU 0 genome.wustl.edu 37 2 143676273 143676273 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 143676273 143676273 G A SNP KYNU ENST00000264170 human ensembl 74_37 +1 known missense c.265 p.E89K 1.000 superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 53 0 0 25 7 21.875 KYNU 0 genome.wustl.edu 37 2 143718341 143718341 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 143718341 143718341 T C SNP KYNU ENST00000264170 human ensembl 74_37 +1 known splice_site c.729+2 e7+2 1.000 - - - no_errors KYNU HGNC ENSG00000115919 177 0 0 131 11 7.74648 ARHGAP15 0 genome.wustl.edu 37 2 143913190 143913190 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 143913190 143913190 T C SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.131 p.M44T 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 106 0 0 37 28 43.0769 ZEB2 0 genome.wustl.edu 37 2 145187336 145187336 + Nonsense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 145187336 145187336 C A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known nonsense c.331 p.E111* 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 140 0 0 71 16 18.3908 TPO 0 genome.wustl.edu 37 2 1480977 1480977 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 1480977 1480977 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.939 p.P313 0.997 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 28 0 0 11 8 42.1053 KIF5C 0 genome.wustl.edu 37 2 149853788 149853788 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 149853788 149853788 C T SNP KIF5C ENST00000435030 human ensembl 74_37 +1 known silent c.2034 p.H678 0.993 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF5C HGNC ENSG00000168280 58 0 0 31 15 32.6087 ARL5A 0 genome.wustl.edu 37 2 152670734 152670734 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 152670734 152670734 A G SNP ARL5A ENST00000295087 human ensembl 74_37 -1 known silent c.204 p.G68 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARL5A HGNC ENSG00000162980 199 0 0 128 7 5.18519 KCNJ3 0 genome.wustl.edu 37 2 155555563 155555563 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 155555563 155555563 C T SNP KCNJ3 ENST00000295101 human ensembl 74_37 +1 known silent c.276 p.T92 0.874 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.1,prints_K_chnl_inward-rec_Kir - no_errors KCNJ3 HGNC ENSG00000162989 141 0 0 67 23 25.5556 DDX1 0 genome.wustl.edu 37 2 15743351 15743351 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 15743351 15743351 G A SNP DDX1 ENST00000233084 human ensembl 74_37 +1 known missense c.427 p.G143R 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX1 HGNC ENSG00000079785 46 0 0 42 4 8.69565 UPP2 0 genome.wustl.edu 37 2 158978111 158978111 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 158978111 158978111 T C SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known silent c.816 p.C272 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 208 0 0 115 7 5.7377 UPP2 0 genome.wustl.edu 37 2 158978125 158978125 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 158978125 158978125 A T SNP UPP2 ENST00000409859 human ensembl 74_37 +1 known missense c.830 p.Y277F 1.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP2 HGNC ENSG00000007001 176 0 0 88 14 13.7255 TANC1 0 genome.wustl.edu 37 2 160028760 160028760 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 160028760 160028760 G A SNP TANC1 ENST00000263635 human ensembl 74_37 +1 known missense c.1480 p.A494T 0.628 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 TANC1 HGNC ENSG00000115183 102 0 0 56 7 11.1111 BAZ2B 0 genome.wustl.edu 37 2 160206353 160206353 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 160206353 160206353 C T SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.4729 p.D1577N 0.025 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,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 340 0 0 159 76 32.3404 FIGN 0 genome.wustl.edu 37 2 164466663 164466663 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 164466663 164466663 A G SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1679 p.L560S 0.997 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 129 0 0 67 7 9.45946 FIGN 0 genome.wustl.edu 37 2 164467532 164467532 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 164467532 164467532 C T SNP FIGN ENST00000333129 human ensembl 74_37 -1 known silent c.810 p.P270 0.580 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 130 0 0 63 21 25 GRB14 0 genome.wustl.edu 37 2 165364963 165364963 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 165364963 165364963 A G SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known splice_site c.1023+2 e8+2 1.000 - - - no_errors GRB14 HGNC ENSG00000115290 98 0 0 48 19 28.3582 COBLL1 0 genome.wustl.edu 37 2 165551885 165551885 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 165551885 165551885 C T SNP COBLL1 ENST00000194871 human ensembl 74_37 -1 known missense c.2332 p.V778I 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfscan_WH2_dom - no_errors COBLL1 HGNC ENSG00000082438 261 0 0 117 41 25.9494 SCN2A 0 genome.wustl.edu 37 2 166226695 166226695 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 166226695 166226695 T C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known silent c.3735 p.A1245 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 263 0 0 103 63 37.9518 SCN2A 0 genome.wustl.edu 37 2 166243472 166243472 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 166243472 166243472 T C SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.4768 p.F1590L 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 214 0 0 127 12 8.63309 TTC21B 0 genome.wustl.edu 37 2 166747086 166747086 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 166747086 166747086 C T SNP TTC21B ENST00000243344 human ensembl 74_37 -1 known missense c.3166 p.G1056S 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21B HGNC ENSG00000123607 99 0 0 46 28 37.8378 SCN9A 0 genome.wustl.edu 37 2 167083198 167083198 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 167083198 167083198 T C SNP SCN9A ENST00000303354 human ensembl 74_37 -1 known missense c.4280 p.K1427R 0.000 pfam_Ion_trans_dom 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 17 0 0 7 6 46.1538 FAM49A 0 genome.wustl.edu 37 2 16742786 16742786 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 16742786 16742786 T C SNP FAM49A ENST00000355549 human ensembl 74_37 -1 known missense c.451 p.I151V 1.000 pfam_DUF1394 pfam_DUF1394 - no_errors FAM49A HGNC ENSG00000197872 79 0 0 52 16 23.5294 XIRP2 0 genome.wustl.edu 37 2 167760302 167760302 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 167760302 167760302 C T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.310 p.R104W 0.021 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 107 0 0 56 24 30 XIRP2 0 genome.wustl.edu 37 2 168101702 168101702 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 168101702 168101702 T G SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.3800 p.I1267R 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 290 0 0 142 63 30.7317 STK39 0 genome.wustl.edu 37 2 169103919 169103919 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 169103919 169103919 C T SNP STK39 ENST00000355999 human ensembl 74_37 -1 known silent c.27 p.V9 0.998 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK39 HGNC ENSG00000198648 24 0 0 11 3 21.4286 TLK1 0 genome.wustl.edu 37 2 171914690 171914690 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 171914690 171914690 G A SNP TLK1 ENST00000431350 human ensembl 74_37 -1 known missense c.424 p.R142C 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 TLK1 HGNC ENSG00000198586 168 0 0 91 40 30.5344 CYBRD1 0 genome.wustl.edu 37 2 172398264 172398264 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 172398264 172398264 C T SNP CYBRD1 ENST00000321348 human ensembl 74_37 +1 known silent c.363 p.S121 1.000 pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYBRD1 HGNC ENSG00000071967 289 0 0 138 62 31 CHRNA1 0 genome.wustl.edu 37 2 175618330 175618330 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 175618330 175618330 T C SNP CHRNA1 ENST00000261007 human ensembl 74_37 -1 known missense c.754 p.M252V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_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 - no_errors CHRNA1 HGNC ENSG00000138435 233 0 0 107 46 30.0654 HOXD3 0 genome.wustl.edu 37 2 177034214 177034214 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 177034214 177034214 G A SNP HOXD3 ENST00000249440 human ensembl 74_37 +1 known silent c.372 p.P124 0.025 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXD3 HGNC ENSG00000128652 107 0 0 53 15 22.0588 AGPS 0 genome.wustl.edu 37 2 178388535 178388535 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 178388535 178388535 T C SNP AGPS ENST00000264167 human ensembl 74_37 +1 known splice_site c.1855+2 e19+2 1.000 - - - no_errors AGPS HGNC ENSG00000018510 128 0 0 60 31 34.0659 TTN 0 genome.wustl.edu 37 2 179451486 179451486 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179451486 179451486 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56438 p.N18813S 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 250 0 0 121 14 10.3704 TTN 0 genome.wustl.edu 37 2 179483422 179483422 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179483422 179483422 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.39151 p.Q13051* 0.012 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 119 0 0 72 4 5.26316 TTN 0 genome.wustl.edu 37 2 179495802 179495802 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179495802 179495802 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.36269 p.D12090G 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2 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 109 0 0 43 21 32.8125 TTN 0 genome.wustl.edu 37 2 179600514 179600514 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179600514 179600514 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.10927 p.K3643E 1.000 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 79 0 0 47 3 6 TTN 0 genome.wustl.edu 37 2 179636101 179636101 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179636101 179636101 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7953 p.E2651D 1.000 pfam_Ig_I-set,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 115 0 0 77 7 8.33333 CWC22 0 genome.wustl.edu 37 2 180815357 180815357 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 180815357 180815357 C T SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known silent c.2022 p.A674 0.000 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 124 0 0 56 19 25.3333 CERKL 0 genome.wustl.edu 37 2 182468700 182468700 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 182468700 182468700 A G SNP CERKL ENST00000339098 human ensembl 74_37 -1 known silent c.345 p.G115 0.073 NULL pfam_Diacylglycerol_kinase_cat_dom - no_errors CERKL HGNC ENSG00000188452 35 0 0 27 3 10 FRZB 0 genome.wustl.edu 37 2 183731239 183731239 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 183731239 183731239 G A SNP FRZB ENST00000295113 human ensembl 74_37 -1 known silent c.42 p.A14 0.993 NULL 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 10 0 0 16 3 15.7895 ZNF804A 0 genome.wustl.edu 37 2 185801510 185801510 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 185801510 185801510 G A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.1387 p.D463N 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 215 0 0 104 56 35 ZNF804A 0 genome.wustl.edu 37 2 185802505 185802505 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 185802505 185802505 A T SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2382 p.E794D 0.133 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 93 0 0 50 12 19.3548 FSIP2 0 genome.wustl.edu 37 2 186671181 186671181 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 186671181 186671181 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.17415 p.N5805 0.000 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 233 1 0.42735 113 50 30.6748 FSIP2 0 genome.wustl.edu 37 2 186678388 186678388 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 186678388 186678388 T C SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.20211 p.I6737 0.902 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 64 0 0 27 15 35.7143 MYT1L 0 genome.wustl.edu 37 2 1890312 1890312 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 1890312 1890312 T C SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2710 p.K904E 1.000 pfam_Znf_C2HC pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 101 0 0 38 15 28.3019 COL3A1 0 genome.wustl.edu 37 2 189849518 189849518 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 189849518 189849518 T A SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.112 p.S38T 0.199 pfam_VWF_C,smart_VWF_C,pfscan_VWF_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 COL3A1 HGNC ENSG00000168542 164 0 0 130 7 5.10949 COL5A2 0 genome.wustl.edu 37 2 189904010 189904010 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 189904010 189904010 C T SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known missense c.3913 p.A1305T 0.007 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,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 COL5A2 HGNC ENSG00000204262 210 1 0.473934 85 50 37.037 ANKAR 0 genome.wustl.edu 37 2 190557886 190557886 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 190557886 190557886 G A SNP ANKAR ENST00000313581 human ensembl 74_37 +1 known missense c.1290 p.M430I 0.982 NULL pfam_Armadillo,superfamily_ARM-type_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Armadillo,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Armadillo - no_errors ANKAR HGNC ENSG00000151687 58 0 0 50 3 5.66038 MFSD6 0 genome.wustl.edu 37 2 191301720 191301720 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 191301720 191301720 A T SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.965 p.D322V 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 371 0 0 187 73 28.0769 MYT1L 0 genome.wustl.edu 37 2 1926086 1926086 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 1926086 1926086 G A SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known silent c.1455 p.S485 1.000 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 141 0 0 70 40 36.3636 DNAH7 0 genome.wustl.edu 37 2 196825456 196825456 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 196825456 196825456 A G SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.2419 p.L807 0.997 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 329 0 0 182 76 29.4574 PLCL1 0 genome.wustl.edu 37 2 198950524 198950524 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 198950524 198950524 T C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.2283 p.C761 0.646 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 161 0 0 109 7 6.03448 SATB2 0 genome.wustl.edu 37 2 200245100 200245100 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 200245100 200245100 C T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.584 p.C195Y 1.000 superfamily_Lambda_DNA-bd_dom pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 237 0 0 148 43 22.5131 CFLAR 0 genome.wustl.edu 37 2 202005188 202005188 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 202005188 202005188 T A SNP CFLAR ENST00000494258 human ensembl 74_37 +1 putative missense c.344 p.I115N 0.006 NULL pfam_DED,superfamily_DEATH-like_dom,smart_DED,pfscan_DED - no_errors CFLAR HGNC ENSG00000003402 105 0 0 50 38 43.1818 STRADB 0 genome.wustl.edu 37 2 202337729 202337729 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 202337729 202337729 C T SNP STRADB ENST00000194530 human ensembl 74_37 +1 known missense c.245 p.T82I 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 STRADB HGNC ENSG00000082146 276 0 0 116 64 35.5556 ALS2 0 genome.wustl.edu 37 2 202606542 202606542 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 202606542 202606542 G A SNP ALS2 ENST00000264276 human ensembl 74_37 -1 known nonsense c.2206 p.Q736* 1.000 pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain pfam_Reg_chr_condens,pfam_MORN,pfam_VPS9,pfam_DH-domain,superfamily_RCC1/BLIP-II,superfamily_DH-domain,smart_MORN,pfscan_VPS9,pfscan_Reg_chr_condens,pfscan_DH-domain,prints_Reg_chr_condens - no_errors ALS2 HGNC ENSG00000003393 47 0 0 24 14 36.8421 CDK15 0 genome.wustl.edu 37 2 202712162 202712162 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 202712162 202712162 T C SNP CDK15 ENST00000374598 human ensembl 74_37 +1 known missense c.910 p.S304P 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 CDK15 HGNC ENSG00000138395 164 0 0 115 12 9.44882 NBEAL1 0 genome.wustl.edu 37 2 204001465 204001465 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 204001465 204001465 A G SNP NBEAL1 ENST00000449802 human ensembl 74_37 +1 known silent c.4446 p.E1482 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 178 0 0 82 38 31.6667 ABI2 0 genome.wustl.edu 37 2 204292052 204292052 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 204292052 204292052 T C SNP ABI2 ENST00000295851 human ensembl 74_37 +1 known missense c.1519 p.S507P 1.000 smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_Abl-interactor_HHR_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,pfscan_T_SNARE_dom,prints_SH3_domain,prints_p67phox - no_errors ABI2 HGNC ENSG00000138443 81 0 0 34 16 32 PUM2 0 genome.wustl.edu 37 2 20453706 20453706 + Nonsense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 20453706 20453706 G T SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known nonsense c.2946 p.C982* 1.000 superfamily_ARM-type_fold,pfscan_Pumilio_RNA-bd_rpt pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 258 1 0.3861 135 71 34.466 PARD3B 0 genome.wustl.edu 37 2 206480189 206480189 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 206480189 206480189 C T SNP PARD3B ENST00000406610 human ensembl 74_37 +1 known silent c.3270 p.P1090 0.011 NULL pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PARD3B HGNC ENSG00000116117 360 0 0 164 72 30.5085 NRP2 0 genome.wustl.edu 37 2 206641233 206641233 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 206641233 206641233 C T SNP NRP2 ENST00000272849 human ensembl 74_37 +1 known missense c.2704 p.R902C 0.999 pfam_Neuropilin1_C pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_Neuropilin1_C,pfam_MAM_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_ConA-like_lec_gl_sf,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP2 HGNC ENSG00000118257 263 0 0 170 73 30.0412 HS1BP3 0 genome.wustl.edu 37 2 20845123 20845123 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 20845123 20845123 G A SNP HS1BP3 ENST00000304031 human ensembl 74_37 -1 known missense c.175 p.P59S 0.378 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors HS1BP3 HGNC ENSG00000118960 142 0 0 69 36 34.2857 CRYGC 0 genome.wustl.edu 37 2 208993095 208993095 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 208993095 208993095 G A SNP CRYGC ENST00000282141 human ensembl 74_37 -1 known silent c.357 p.S119 0.128 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGC HGNC ENSG00000163254 111 0 0 50 24 32.4324 MAP2 0 genome.wustl.edu 37 2 210559555 210559555 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 210559555 210559555 G T SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known missense c.2661 p.E887D 1.000 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 102 0 0 46 23 33.3333 KANSL1L 0 genome.wustl.edu 37 2 211018861 211018861 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 211018861 211018861 A G SNP KANSL1L ENST00000281772 human ensembl 74_37 -1 known missense c.446 p.V149A 0.919 NULL NULL - no_errors KANSL1L HGNC ENSG00000144445 132 0 0 89 6 6.31579 CPS1 0 genome.wustl.edu 37 2 211469862 211469862 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 211469862 211469862 T C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.1891 p.S631P 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 113 0 0 54 5 8.47458 CPS1 0 genome.wustl.edu 37 2 211471538 211471538 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 211471538 211471538 C T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.2083 p.R695C 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 132 1 0.75188 57 28 32.9412 SPAG16 0 genome.wustl.edu 37 2 215013877 215013877 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 215013877 215013877 C T SNP SPAG16 ENST00000331683 human ensembl 74_37 +1 known missense c.1607 p.A536V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 219 0 0 137 13 8.66667 BARD1 0 genome.wustl.edu 37 2 215632335 215632335 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 215632335 215632335 A G SNP BARD1 ENST00000260947 human ensembl 74_37 -1 known missense c.1439 p.L480S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 158 0 0 55 34 38.2022 ABCA12 0 genome.wustl.edu 37 2 215838763 215838763 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 215838763 215838763 C T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.5472 p.Q1824 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 155 0 0 67 30 30.9278 FN1 0 genome.wustl.edu 37 2 216257711 216257711 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 216257711 216257711 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.4012 p.V1338I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 116 0 0 60 19 24.0506 FN1 0 genome.wustl.edu 37 2 216271937 216271937 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 216271937 216271937 A G SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.2626 p.Y876H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 255 0 0 150 17 10.1796 FN1 0 genome.wustl.edu 37 2 216299477 216299477 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 216299477 216299477 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.219 p.A73 0.339 pfam_Fibronectin_type1,smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 274 0 0 123 55 30.8989 RPL37A 0 genome.wustl.edu 37 2 217364716 217364716 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 217364716 217364716 C A SNP RPL37A ENST00000491306 human ensembl 74_37 +1 known silent c.177 p.S59 1.000 pfam_Ribosomal_L37ae,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L37ae pfam_Ribosomal_L37ae,superfamily_Ribosomal_zn-bd,tigrfam_Ribosomal_L37ae - no_errors RPL37A HGNC ENSG00000197756 124 0 0 54 12 18.1818 CTDSP1 0 genome.wustl.edu 37 2 219269277 219269277 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 219269277 219269277 G A SNP CTDSP1 ENST00000464255 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTDSP1 HGNC ENSG00000144579 24 0 0 4 4 50 RNF25 0 genome.wustl.edu 37 2 219529962 219529962 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 219529962 219529962 G A SNP RNF25 ENST00000295704 human ensembl 74_37 -1 known silent c.582 p.V194 0.212 smart_Znf_RING,pfscan_Znf_RING pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,smart_Znf_RING,pfscan_RWD-domain,pfscan_Znf_RING - no_errors RNF25 HGNC ENSG00000163481 78 0 0 45 16 26.2295 TTLL4 0 genome.wustl.edu 37 2 219616528 219616528 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 219616528 219616528 A C SNP TTLL4 ENST00000258398 human ensembl 74_37 +1 known missense c.2975 p.Q992P 1.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL4 HGNC ENSG00000135912 83 0 0 24 18 42.8571 CRYBA2 0 genome.wustl.edu 37 2 219856877 219856877 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 219856877 219856877 T C SNP CRYBA2 ENST00000295728 human ensembl 74_37 -1 known missense c.250 p.S84G 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA2 HGNC ENSG00000163499 35 0 0 16 7 30.4348 SLC23A3 0 genome.wustl.edu 37 2 220034124 220034124 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220034124 220034124 G A SNP SLC23A3 ENST00000455516 human ensembl 74_37 -1 known missense c.325 p.P109S 1.000 pfam_Xant/urac/vitC pfam_Xant/urac/vitC - no_errors SLC23A3 HGNC ENSG00000213901 231 0 0 123 61 33.1522 ATG9A 0 genome.wustl.edu 37 2 220088662 220088662 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220088662 220088662 C T SNP ATG9A ENST00000361242 human ensembl 74_37 -1 known missense c.1348 p.D450N 1.000 pfam_Autophagy-rel_prot_9 pfam_Autophagy-rel_prot_9,superfamily_Cyt_c_oxidase_su3 - no_errors ATG9A HGNC ENSG00000198925 208 0 0 101 50 33.1126 DNAJB2 0 genome.wustl.edu 37 2 220149365 220149365 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220149365 220149365 G A SNP DNAJB2 ENST00000336576 human ensembl 74_37 +1 known missense c.631 p.D211N 1.000 smart_Ubiquitin-int_motif 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 108 0 0 54 26 32.5 SPEG 0 genome.wustl.edu 37 2 220312963 220312963 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220312963 220312963 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.1083 p.S361 0.005 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 66 0 0 31 13 29.5455 SPEG 0 genome.wustl.edu 37 2 220332065 220332065 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220332065 220332065 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.3051 p.M1017I 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 144 0 0 71 28 28.2828 SPEG 0 genome.wustl.edu 37 2 220336948 220336948 + Splice_Site SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220336948 220336948 G A SNP SPEG ENST00000485813 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors SPEG HGNC ENSG00000072195 147 0 0 103 8 7.20721 SPEG 0 genome.wustl.edu 37 2 220344792 220344792 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220344792 220344792 T C SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.5272 p.Y1758H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 141 0 0 85 9 9.57447 SPEG 0 genome.wustl.edu 37 2 220353309 220353309 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220353309 220353309 C T SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.7948 p.R2650W 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 126 0 0 66 32 32.6531 SPEG 0 genome.wustl.edu 37 2 220354353 220354353 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220354353 220354353 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.8613 p.E2871 0.985 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 376 0 0 291 27 8.49057 SLC4A3 0 genome.wustl.edu 37 2 220499144 220499144 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220499144 220499144 T C SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.1645 p.C549R 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_Anion_exchange_3,prints_Anion_exchange,tigrfam_HCO3_transpt_euk - no_errors SLC4A3 HGNC ENSG00000114923 183 0 0 77 33 30 DOCK10 0 genome.wustl.edu 37 2 225659763 225659763 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 225659763 225659763 T C SNP DOCK10 ENST00000258390 human ensembl 74_37 -1 known missense c.4987 p.T1663A 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 257 0 0 140 25 15.1515 NYAP2 0 genome.wustl.edu 37 2 226378131 226378131 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 226378131 226378131 G A SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.266 p.G89D 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 132 0 0 54 16 22.8571 NYAP2 0 genome.wustl.edu 37 2 226447400 226447400 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 226447400 226447400 A G SNP NYAP2 ENST00000272907 human ensembl 74_37 +1 known missense c.1267 p.T423A 1.000 NULL NULL - no_errors NYAP2 HGNC ENSG00000144460 31 0 0 21 5 19.2308 IRS1 0 genome.wustl.edu 37 2 227663319 227663319 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 227663319 227663319 A G SNP IRS1 ENST00000305123 human ensembl 74_37 -1 known missense c.136 p.Y46H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology 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 227 0 0 170 13 7.10383 SP140 0 genome.wustl.edu 37 2 231112772 231112772 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 231112772 231112772 G C SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.884 p.R295T 0.000 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 147 0 0 56 29 34.1176 GPR55 0 genome.wustl.edu 37 2 231774792 231774792 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 231774792 231774792 G A SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.886 p.R296C 0.999 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 189 0 0 86 48 35.8209 GPR55 0 genome.wustl.edu 37 2 231774894 231774894 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 231774894 231774894 C A SNP GPR55 ENST00000392039 human ensembl 74_37 -1 known missense c.784 p.A262S 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR55 HGNC ENSG00000135898 163 0 0 105 56 34.7826 ECEL1 0 genome.wustl.edu 37 2 233347857 233347857 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 233347857 233347857 C T SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known silent c.1539 p.P513 0.001 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 25 0 0 14 4 22.2222 EIF4E2 0 genome.wustl.edu 37 2 233431929 233431929 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 233431929 233431929 G A SNP EIF4E2 ENST00000409495 human ensembl 74_37 +1 putative missense c.670 p.V224M 1.000 NULL pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom - no_errors EIF4E2 HGNC ENSG00000135930 149 1 0.666667 93 38 29.0076 DNAJB3 0 genome.wustl.edu 37 2 234652351 234652351 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 234652351 234652351 G A SNP DNAJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 0.709 - - - no_errors DNAJB3 HGNC ENSG00000227802 292 1 0.341297 138 60 30.303 MSL3P1 0 genome.wustl.edu 37 2 234775346 234775346 + RNA SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 234775346 234775346 G C SNP MSL3P1 ENST00000438684 human ensembl 74_37 -1 known rna NULL NULL 0.146 - - - no_errors MSL3P1 HGNC ENSG00000224287 54 0 0 23 16 41.0256 AGAP1 0 genome.wustl.edu 37 2 236877258 236877258 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 236877258 236877258 A G SNP AGAP1 ENST00000304032 human ensembl 74_37 +1 known missense c.1636 p.T546A 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 118 0 0 78 9 10.3448 GBX2 0 genome.wustl.edu 37 2 237076119 237076119 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 237076119 237076119 C T SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known missense c.496 p.A166T 0.978 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 30 0 0 21 18 46.1538 COL6A3 0 genome.wustl.edu 37 2 238249551 238249551 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 238249551 238249551 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.8008 p.A2670T 0.746 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 112 1 0.884956 64 21 24.7059 COL6A3 0 genome.wustl.edu 37 2 238285437 238285437 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 238285437 238285437 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.3048 p.V1016 0.000 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 551 0 0 286 104 26.6667 PER2 0 genome.wustl.edu 37 2 239162209 239162209 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 239162209 239162209 C T SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.2455 p.A819T 0.001 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 33 0 0 20 6 23.0769 HDAC4 0 genome.wustl.edu 37 2 239976501 239976501 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 239976501 239976501 T C SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.3017 p.Q1006R 1.000 pfam_Arb2_domain,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 186 0 0 122 7 5.42636 OR6B2 0 genome.wustl.edu 37 2 240969231 240969231 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 240969231 240969231 T A SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known missense c.616 p.I206F 0.584 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 OR6B2 HGNC ENSG00000182083 60 0 0 36 10 21.7391 PASK 0 genome.wustl.edu 37 2 242046073 242046073 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 242046073 242046073 C T SNP PASK ENST00000358649 human ensembl 74_37 -1 known missense c.3901 p.A1301T 0.001 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAS_fold,superfamily_Kinase-like_dom,superfamily_PAS,smart_PAS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAS,pfscan_Prot_kinase_dom,tigrfam_PAS - no_errors PASK HGNC ENSG00000115687 191 0 0 100 47 31.9728 HDLBP 0 genome.wustl.edu 37 2 242186183 242186183 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 242186183 242186183 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known missense c.1934 p.S645F 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 339 0 0 133 44 24.8588 THAP4 0 genome.wustl.edu 37 2 242524084 242524084 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 242524084 242524084 C A SNP THAP4 ENST00000407315 human ensembl 74_37 -1 known missense c.1671 p.M557I 1.000 pfam_DUF1794,superfamily_Calycin-like pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 276 0 0 159 51 24.2857 PDCD1 0 genome.wustl.edu 37 2 242794422 242794422 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 242794422 242794422 C T SNP PDCD1 ENST00000334409 human ensembl 74_37 -1 known missense c.520 p.V174M 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PDCD1 HGNC ENSG00000188389 47 0 0 21 6 22.2222 NCOA1 0 genome.wustl.edu 37 2 24929467 24929467 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 24929467 24929467 C A SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.1128 p.D376E 1.000 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 103 0 0 55 18 24.6575 KIF3C 0 genome.wustl.edu 37 2 26203675 26203675 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 26203675 26203675 A G SNP KIF3C ENST00000264712 human ensembl 74_37 -1 known missense c.1112 p.V371A 1.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF3C HGNC ENSG00000084731 150 1 0.662252 73 31 29.8077 ACP1 0 genome.wustl.edu 37 2 272130 272130 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 272130 272130 A G SNP ACP1 ENST00000272065 human ensembl 74_37 +1 known missense c.211 p.M71V 1.000 pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml pfam_Ptyr_pPase_SF,superfamily_Ptyr_pPase_SF,smart_Ptyr_pPase_SF,prints_Tyr_Pase_low_mol_wt_mml,prints_Tyr_phospatase/Ars_reductase - no_errors ACP1 HGNC ENSG00000143727 131 0 0 75 7 8.53659 AGBL5 0 genome.wustl.edu 37 2 27290410 27290410 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 27290410 27290410 G A SNP AGBL5 ENST00000360131 human ensembl 74_37 +1 known missense c.2138 p.R713H 0.788 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 257 0 0 140 63 31.0345 SLC30A3 0 genome.wustl.edu 37 2 27479689 27479689 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 27479689 27479689 T C SNP SLC30A3 ENST00000233535 human ensembl 74_37 -1 known missense c.850 p.T284A 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A3 HGNC ENSG00000115194 78 0 0 38 21 35.5932 SNX17 0 genome.wustl.edu 37 2 27599213 27599213 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 27599213 27599213 C T SNP SNX17 ENST00000233575 human ensembl 74_37 +1 known missense c.1216 p.R406C 1.000 NULL pfam_Phox,superfamily_Phox,superfamily_FERM_central,smart_Phox,pfscan_Phox,pfscan_Ras-assoc - no_errors SNX17 HGNC ENSG00000115234 149 0 0 77 34 30.6306 C2orf71 0 genome.wustl.edu 37 2 29296327 29296327 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 29296327 29296327 C T SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known silent c.801 p.L267 1.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 241 0 0 103 54 34.3949 LCLAT1 0 genome.wustl.edu 37 2 30748623 30748623 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 30748623 30748623 T C SNP LCLAT1 ENST00000309052 human ensembl 74_37 +1 known splice_site c.279+2 e2+2 1.000 - - - no_errors LCLAT1 HGNC ENSG00000172954 162 1 0.613497 73 30 29.1262 XDH 0 genome.wustl.edu 37 2 31588901 31588901 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 31588901 31588901 A G SNP XDH ENST00000379416 human ensembl 74_37 -1 known silent c.2397 p.F799 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 161 0 0 96 36 27.2727 TSSC1 0 genome.wustl.edu 37 2 3197842 3197842 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 3197842 3197842 T C SNP TSSC1 ENST00000382125 human ensembl 74_37 -1 known missense c.749 p.D250G 1.000 pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TSSC1 HGNC ENSG00000032389 224 0 0 127 10 7.29927 NLRC4 0 genome.wustl.edu 37 2 32449783 32449783 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 32449783 32449783 G A SNP NLRC4 ENST00000360906 human ensembl 74_37 -1 known missense c.2834 p.A945V 0.930 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NLRC4 HGNC ENSG00000091106 165 1 0.60241 72 24 25 LTBP1 0 genome.wustl.edu 37 2 33623566 33623566 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 33623566 33623566 C T SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.5123 p.P1708L 0.996 NULL 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,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 135 0 0 79 7 8.13953 FAM98A 0 genome.wustl.edu 37 2 33813583 33813583 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 33813583 33813583 T C SNP FAM98A ENST00000238823 human ensembl 74_37 -1 known missense c.341 p.Y114C 1.000 pfam_Uncharacterised_FAM98 pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 127 0 0 72 32 30.7692 EIF2AK2 0 genome.wustl.edu 37 2 37347136 37347136 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 37347136 37347136 A G SNP EIF2AK2 ENST00000233057 human ensembl 74_37 -1 known missense c.1214 p.I405T 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_dsRNA-bd_dom,superfamily_Kinase-like_dom,smart_dsRNA-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_dsRNA-bd_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EIF2AK2 HGNC ENSG00000055332 92 0 0 63 7 10 SLC8A1 0 genome.wustl.edu 37 2 40656492 40656492 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 40656492 40656492 A G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known missense c.929 p.L310P 1.000 pfscan_DnaJ_domain,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 395 1 0.252525 212 83 28.1356 THADA 0 genome.wustl.edu 37 2 43808916 43808916 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 43808916 43808916 C T SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.685 p.G229R 0.920 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 90 0 0 67 5 6.94444 THADA 0 genome.wustl.edu 37 2 43813540 43813540 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 43813540 43813540 C A SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.533 p.R178I 1.000 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 24 0 0 6 4 40 PPM1B 0 genome.wustl.edu 37 2 44428693 44428693 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 44428693 44428693 A G SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.355 p.N119D 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 202 0 0 119 13 9.84848 PPM1B 0 genome.wustl.edu 37 2 44428717 44428717 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 44428717 44428717 A G SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.379 p.M127V 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 226 1 0.440529 86 53 38.1295 PPM1B 0 genome.wustl.edu 37 2 44436356 44436356 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 44436356 44436356 G A SNP PPM1B ENST00000282412 human ensembl 74_37 +1 known missense c.854 p.R285Q 1.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,pfam_PP2C_C,superfamily_PP2C-like_dom,superfamily_PP2C_C,smart_PP2C-like_dom - no_errors PPM1B HGNC ENSG00000138032 110 0 0 66 25 27.4725 SIX3 0 genome.wustl.edu 37 2 45169356 45169356 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 45169356 45169356 C T SNP SIX3 ENST00000260653 human ensembl 74_37 +1 known missense c.113 p.A38V 0.940 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX3 HGNC ENSG00000138083 84 0 0 32 18 36 PRKCE 0 genome.wustl.edu 37 2 46378314 46378314 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 46378314 46378314 C T SNP PRKCE ENST00000306156 human ensembl 74_37 +1 known silent c.1866 p.D622 0.810 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_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_C2_dom,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_Prot_kin_PKC_delta,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKCE HGNC ENSG00000171132 78 0 0 47 17 26.5625 EPAS1 0 genome.wustl.edu 37 2 46574037 46574037 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 46574037 46574037 A G SNP EPAS1 ENST00000263734 human ensembl 74_37 +1 known missense c.52 p.K18E 1.000 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 114 0 0 51 26 33.7662 MSH6 0 genome.wustl.edu 37 2 48026471 48026471 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 48026471 48026471 T C SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.1349 p.V450A 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N,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 131 0 0 63 36 36.3636 MSH6 0 genome.wustl.edu 37 2 48026560 48026560 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 48026560 48026560 G C SNP MSH6 ENST00000234420 human ensembl 74_37 +1 known missense c.1438 p.V480L 1.000 pfam_DNA_mismatch_repair_MutS-lik_N,superfamily_DNA_mismatch_repair_MutS_N,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 118 0 0 51 33 39.2857 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48809378 48809378 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 48809378 48809378 G A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.1606 p.V536I 1.000 pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pfscan_Clathrin_mu_C pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 229 0 0 113 52 31.5152 FSHR 0 genome.wustl.edu 37 2 49190590 49190590 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 49190590 49190590 A G SNP FSHR ENST00000406846 human ensembl 74_37 -1 known missense c.1370 p.V457A 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 76 0 0 26 19 42.2222 PSME4 0 genome.wustl.edu 37 2 54115035 54115035 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 54115035 54115035 G A SNP PSME4 ENST00000404125 human ensembl 74_37 -1 known missense c.4480 p.L1494F 1.000 superfamily_ARM-type_fold pfam_DUF3437,superfamily_ARM-type_fold - no_errors PSME4 HGNC ENSG00000068878 125 0 0 57 32 35.9551 ACYP2 0 genome.wustl.edu 37 2 54362601 54362601 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 54362601 54362601 A G SNP ACYP2 ENST00000394666 human ensembl 74_37 +1 known missense c.70 p.R24G 1.000 pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase pfam_Acylphosphatase-like,superfamily_Acylphosphatase-like,pfscan_Acylphosphatase-like,prints_Acylphosphatase - no_errors ACYP2 HGNC ENSG00000170634 79 0 0 77 6 7.22892 MTIF2 0 genome.wustl.edu 37 2 55464533 55464533 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 55464533 55464533 T C SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known silent c.1902 p.V634 1.000 superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 130 0 0 72 16 18.1818 CCDC88A 0 genome.wustl.edu 37 2 55589575 55589575 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 55589575 55589575 T C SNP CCDC88A ENST00000436346 human ensembl 74_37 -1 known missense c.496 p.N166D 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC88A HGNC ENSG00000115355 39 0 0 24 13 35.1351 SOX11 0 genome.wustl.edu 37 2 5833227 5833227 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 5833227 5833227 A G SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.374 p.K125R 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 51 0 0 32 3 8.57143 BCL11A 0 genome.wustl.edu 37 2 60688807 60688807 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 60688807 60688807 A G SNP BCL11A ENST00000335712 human ensembl 74_37 -1 known missense c.1240 p.C414R 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11A HGNC ENSG00000119866 234 0 0 104 42 28.7671 PAPOLG 0 genome.wustl.edu 37 2 61020810 61020810 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 61020810 61020810 A G SNP PAPOLG ENST00000238714 human ensembl 74_37 +1 known silent c.1728 p.V576 0.002 pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 81 0 0 60 6 9.09091 USP34 0 genome.wustl.edu 37 2 61455842 61455842 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 61455842 61455842 G A SNP USP34 ENST00000398571 human ensembl 74_37 -1 known missense c.7381 p.L2461F 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP34 HGNC ENSG00000115464 81 0 0 36 16 30.7692 OTX1 0 genome.wustl.edu 37 2 63281286 63281286 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 63281286 63281286 C T SNP OTX1 ENST00000282549 human ensembl 74_37 +1 known missense c.202 p.R68W 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx1_TF,prints_Otx_TF - no_errors OTX1 HGNC ENSG00000115507 182 0 0 102 30 22.7273 CEP68 0 genome.wustl.edu 37 2 65299970 65299970 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 65299970 65299970 C T SNP CEP68 ENST00000377990 human ensembl 74_37 +1 known silent c.1740 p.L580 0.000 NULL NULL - no_errors CEP68 HGNC ENSG00000011523 253 0 0 140 80 36.3636 ACTR2 0 genome.wustl.edu 37 2 65495711 65495711 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 65495711 65495711 G A SNP ACTR2 ENST00000377982 human ensembl 74_37 +1 known missense c.1043 p.R348H 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR2 HGNC ENSG00000138071 72 0 0 47 18 27.6923 LOC101927533 0 genome.wustl.edu 37 2 65728083 65728083 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 65728083 65728083 G A SNP LOC101927533 ENST00000377977 human ensembl 74_37 +1 known rna NULL NULL 0.981 - - - no_errors AC074391.1 Clone_based_vega_gene ENSG00000204929 59 0 0 34 18 34.6154 ENSG00000226488 0 genome.wustl.edu 37 2 6636283 6636283 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 6636283 6636283 C T SNP ENSG00000226488 ENST00000436082 human ensembl 74_37 +1 known rna NULL NULL 0.402 - - - no_errors AC021021.2 Clone_based_vega_gene ENSG00000226488 72 0 0 35 15 30 MCEE 0 genome.wustl.edu 37 2 71351415 71351415 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 71351415 71351415 T A SNP MCEE ENST00000244217 human ensembl 74_37 -1 known missense c.299 p.H100L 0.999 pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase pfam_Glyas_Fos-R_dOase_dom,tigrfam_MeMalonyl-CoA_epimerase - no_errors MCEE HGNC ENSG00000124370 132 0 0 73 20 21.5054 DYSF 0 genome.wustl.edu 37 2 71742841 71742841 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 71742841 71742841 G A SNP DYSF ENST00000413539 human ensembl 74_37 +1 known missense c.845 p.R282Q 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 188 0 0 104 47 31.1258 DYSF 0 genome.wustl.edu 37 2 71743355 71743355 + Nonsense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 71743355 71743355 G T SNP DYSF ENST00000413539 human ensembl 74_37 +1 known nonsense c.931 p.E311* 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_dom,superfamily_MFS_dom_general_subst_transpt,smart_C2_dom,smart_Peroxin/Ferlin,pfscan_C2_dom - no_errors DYSF HGNC ENSG00000135636 102 0 0 56 19 25.3333 SPR 0 genome.wustl.edu 37 2 73115582 73115582 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 73115582 73115582 C A SNP SPR ENST00000234454 human ensembl 74_37 +1 known silent c.444 p.L148 0.456 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,tigrfam_Sepiapterin_red pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,tigrfam_Sepiapterin_red - no_errors SPR HGNC ENSG00000116096 238 1 0.41841 109 53 32.716 EGR4 0 genome.wustl.edu 37 2 73519506 73519506 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 73519506 73519506 G A SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known silent c.849 p.P283 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 25 0 0 14 5 26.3158 EGR4 0 genome.wustl.edu 37 2 73519605 73519605 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 73519605 73519605 C T SNP EGR4 ENST00000545030 human ensembl 74_37 -1 known silent c.750 p.P250 0.994 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR4 HGNC ENSG00000135625 23 0 0 8 7 46.6667 ACTG2 0 genome.wustl.edu 37 2 74135805 74135805 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 74135805 74135805 G A SNP ACTG2 ENST00000345517 human ensembl 74_37 +1 known nonsense c.261 p.W87* 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTG2 HGNC ENSG00000163017 79 0 0 53 5 8.62069 TET3 0 genome.wustl.edu 37 2 74273760 74273760 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 74273760 74273760 C T SNP TET3 ENST00000409262 human ensembl 74_37 +1 known missense c.311 p.P104L 0.818 NULL NULL - no_errors TET3 HGNC ENSG00000187605 107 0 0 53 21 28.3784 DCTN1 0 genome.wustl.edu 37 2 74597120 74597120 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 74597120 74597120 C T SNP DCTN1 ENST00000361874 human ensembl 74_37 -1 known missense c.1364 p.R455H 1.000 superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase pfam_Dynactin,pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Polyketide_synth_docking,superfamily_P-loop_NTPase,pfscan_CAP-Gly_domain - no_errors DCTN1 HGNC ENSG00000204843 253 1 0.393701 113 69 37.9121 SEMA4F 0 genome.wustl.edu 37 2 74902879 74902879 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 74902879 74902879 T C SNP SEMA4F ENST00000357877 human ensembl 74_37 +1 known missense c.1486 p.W496R 0.989 superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4F HGNC ENSG00000135622 216 0 0 108 40 27.027 MRPL19 0 genome.wustl.edu 37 2 75882354 75882354 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 75882354 75882354 T C SNP MRPL19 ENST00000393909 human ensembl 74_37 +1 known silent c.822 p.D274 0.994 NULL pfam_Ribosomal_L19,superfamily_Translation_prot_SH3-like,prints_Ribosomal_L19 - no_errors MRPL19 HGNC ENSG00000115364 129 0 0 70 8 10.2564 LRRTM1 0 genome.wustl.edu 37 2 80530382 80530382 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 80530382 80530382 T G SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.563 p.K188T 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 188 0 0 79 40 33.6134 CD8A 0 genome.wustl.edu 37 2 87017544 87017544 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 87017544 87017544 C A SNP CD8A ENST00000538832 human ensembl 74_37 -1 known missense c.433 p.D145Y 0.000 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD8A HGNC ENSG00000153563 199 1 0.5 93 41 30.597 SMYD1 0 genome.wustl.edu 37 2 88405999 88405999 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 88405999 88405999 C G SNP SMYD1 ENST00000419482 human ensembl 74_37 +1 known missense c.1137 p.D379E 0.962 NULL pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND - no_errors SMYD1 HGNC ENSG00000115593 176 0 0 73 20 21.5054 THNSL2 0 genome.wustl.edu 37 2 88474836 88474836 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 88474836 88474836 G A SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known missense c.487 p.V163I 1.000 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 74 0 0 39 20 33.8983 THNSL2 0 genome.wustl.edu 37 2 88478470 88478470 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 88478470 88478470 A T SNP THNSL2 ENST00000324166 human ensembl 74_37 +1 known missense c.740 p.D247V 0.791 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,tigrfam_Thr_synthase_like - no_errors THNSL2 HGNC ENSG00000144115 444 1 0.224719 230 95 29.2308 KIDINS220 0 genome.wustl.edu 37 2 8926386 8926386 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 8926386 8926386 C A SNP KIDINS220 ENST00000256707 human ensembl 74_37 -1 known missense c.1889 p.G630V 1.000 pfam_KAP_NTPase pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KIDINS220 HGNC ENSG00000134313 369 0 0 166 70 29.661 TEKT4 0 genome.wustl.edu 37 2 95541412 95541412 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 95541412 95541412 A G SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.1016 p.H339R 0.928 pfam_Tektin,prints_Tektin pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 159 0 0 99 8 7.47664 FAHD2A 0 genome.wustl.edu 37 2 96072863 96072863 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 96072863 96072863 C T SNP FAHD2A ENST00000233379 human ensembl 74_37 +1 known silent c.420 p.I140 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 168 0 0 76 22 22.449 ASTL 0 genome.wustl.edu 37 2 96789628 96789628 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 96789628 96789628 A G SNP ASTL ENST00000342380 human ensembl 74_37 -1 known silent c.1257 p.C419 0.000 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 203 0 0 130 13 9.09091 ASTL 0 genome.wustl.edu 37 2 96803388 96803388 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 96803388 96803388 G A SNP ASTL ENST00000342380 human ensembl 74_37 -1 known missense c.107 p.T36I 0.233 NULL pfam_Peptidase_M12A,smart_Peptidase_Metallo,prints_Peptidase_M12A - no_errors ASTL HGNC ENSG00000188886 211 0 0 136 11 7.48299 ADAM17 0 genome.wustl.edu 37 2 9683306 9683306 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 9683306 9683306 A G SNP ADAM17 ENST00000310823 human ensembl 74_37 -1 known missense c.206 p.L69P 0.875 pfam_Peptidase_M12B_N pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAM17 HGNC ENSG00000151694 167 0 0 124 8 6.06061 ARID5A 0 genome.wustl.edu 37 2 97217936 97217936 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 97217936 97217936 G A SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known silent c.1671 p.T557 0.019 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 384 1 0.25974 159 116 42.1818 KANSL3 0 genome.wustl.edu 37 2 97267963 97267963 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 97267963 97267963 G A SNP KANSL3 ENST00000431828 human ensembl 74_37 -1 known missense c.2372 p.A791V 1.000 NULL NULL - no_errors KANSL3 HGNC ENSG00000114982 21 0 0 14 6 30 FAM178B 0 genome.wustl.edu 37 2 97543757 97543757 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 97543757 97543757 A G SNP FAM178B ENST00000417561 human ensembl 74_37 -1 known missense c.2321 p.M774T 0.911 NULL NULL - no_errors FAM178B HGNC ENSG00000168754 63 0 0 31 15 32.6087 CNGA3 0 genome.wustl.edu 37 2 98994199 98994199 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 98994199 98994199 G A SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.151 p.A51T 0.004 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA3 HGNC ENSG00000144191 56 0 0 34 9 20.9302 KIAA1211L 0 genome.wustl.edu 37 2 99411026 99411026 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 99411026 99411026 G A SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.2858 p.A953V 0.988 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 243 0 0 122 44 26.506 ESF1 0 genome.wustl.edu 37 20 13740434 13740434 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 13740434 13740434 T A SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.1733 p.Q578L 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 44 0 0 33 11 25 ESF1 0 genome.wustl.edu 37 20 13763447 13763447 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 13763447 13763447 T C SNP ESF1 ENST00000202816 human ensembl 74_37 -1 known missense c.340 p.K114E 0.349 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 72 0 0 42 3 6.66667 SEL1L2 0 genome.wustl.edu 37 20 13868465 13868465 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 13868465 13868465 A G SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known missense c.695 p.L232P 1.000 pfam_Sel1-like,smart_Sel1-like pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 197 0 0 141 12 7.84314 SEL1L2 0 genome.wustl.edu 37 20 13912277 13912277 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 13912277 13912277 T C SNP SEL1L2 ENST00000284951 human ensembl 74_37 -1 known silent c.255 p.K85 0.014 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SEL1L2 HGNC ENSG00000101251 21 0 0 10 5 33.3333 NSFL1C 0 genome.wustl.edu 37 20 1424489 1424489 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 1424489 1424489 T C SNP NSFL1C ENST00000350991 human ensembl 74_37 -1 known missense c.1024 p.M342V 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_SEP_domain,pfam_UBX,superfamily_SEP_domain,superfamily_UBA-like,smart_SEP_domain,smart_UBX,pfscan_UBX - no_errors NSFL1C HGNC ENSG00000088833 54 0 0 28 10 26.3158 SNRPB2 0 genome.wustl.edu 37 20 16721539 16721539 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 16721539 16721539 T C SNP SNRPB2 ENST00000246071 human ensembl 74_37 +1 known silent c.567 p.I189 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPB2 HGNC ENSG00000125870 164 0 0 87 8 8.42105 CRNKL1 0 genome.wustl.edu 37 20 20018070 20018070 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 20018070 20018070 C T SNP CRNKL1 ENST00000377340 human ensembl 74_37 -1 known missense c.2276 p.R759Q 1.000 NULL pfam_HAT,pfam_Suf,smart_HAT,pfscan_TPR-contain_dom - no_errors CRNKL1 HGNC ENSG00000101343 479 0 0 252 109 30.1939 C20orf26 0 genome.wustl.edu 37 20 20180469 20180469 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 20180469 20180469 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known nonsense c.1855 p.R619* 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 336 0 0 164 86 34.4 XRN2 0 genome.wustl.edu 37 20 21307158 21307158 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 21307158 21307158 G A SNP XRN2 ENST00000377191 human ensembl 74_37 +1 known missense c.234 p.M78I 1.000 pfam_Put_53exo,pirsf_5_3_exoribonuclease_2 pfam_Put_53exo,superfamily_Znf_CCHC,pirsf_5_3_exoribonuclease_2 - no_errors XRN2 HGNC ENSG00000088930 113 0 0 69 11 13.75 PAX1 0 genome.wustl.edu 37 20 21687619 21687619 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 21687619 21687619 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.830 p.A277V 0.922 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 63 0 0 29 20 40.8163 SSTR4 0 genome.wustl.edu 37 20 23016853 23016853 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 23016853 23016853 G A SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.733 p.A245T 0.943 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 212 0 0 102 30 22.7273 CST11 0 genome.wustl.edu 37 20 23433295 23433295 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 23433295 23433295 T C SNP CST11 ENST00000377009 human ensembl 74_37 -1 known missense c.154 p.T52A 0.000 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST11 HGNC ENSG00000125831 334 0 0 194 80 29.1971 CST9L 0 genome.wustl.edu 37 20 23548916 23548916 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 23548916 23548916 A G SNP CST9L ENST00000376979 human ensembl 74_37 -1 known missense c.172 p.F58L 0.018 pfam_Prot_inh_cystat pfam_Prot_inh_cystat - no_errors CST9L HGNC ENSG00000101435 90 0 0 63 6 8.69565 TGM6 0 genome.wustl.edu 37 20 2398211 2398211 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 2398211 2398211 C T SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known missense c.1670 p.P557L 0.047 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 TGM6 HGNC ENSG00000166948 30 0 0 17 7 29.1667 ACSS1 0 genome.wustl.edu 37 20 24994649 24994649 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 24994649 24994649 G A SNP ACSS1 ENST00000323482 human ensembl 74_37 -1 known missense c.1400 p.A467V 0.294 pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig - no_errors ACSS1 HGNC ENSG00000154930 58 0 0 27 3 10 MYLK2 0 genome.wustl.edu 37 20 30421541 30421541 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 30421541 30421541 G A SNP MYLK2 ENST00000375985 human ensembl 74_37 +1 known missense c.1732 p.A578T 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 MYLK2 HGNC ENSG00000101306 107 0 0 60 43 41.7476 DUSP15 0 genome.wustl.edu 37 20 30436221 30436221 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 30436221 30436221 A G SNP DUSP15 ENST00000278979 human ensembl 74_37 -1 known missense c.874 p.S292P 0.001 NULL pfam_Dual-sp_phosphatase_cat-dom,superfamily_SMAD_FHA_domain,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP - no_errors DUSP15 HGNC ENSG00000149599 71 0 0 54 20 27.027 HCK 0 genome.wustl.edu 37 20 30681809 30681809 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 30681809 30681809 G T SNP HCK ENST00000375852 human ensembl 74_37 +1 known silent c.1236 p.T412 0.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain - no_errors HCK HGNC ENSG00000101336 213 0 0 107 47 30.5195 ASXL1 0 genome.wustl.edu 37 20 31021711 31021711 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 31021711 31021711 G A SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.1710 p.P570 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 216 1 0.460829 104 44 29.7297 ASXL1 0 genome.wustl.edu 37 20 31024634 31024634 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 31024634 31024634 T C SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known silent c.4119 p.F1373 0.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 144 0 0 76 26 25.4902 BPIFB6 0 genome.wustl.edu 37 20 31624279 31624279 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 31624279 31624279 C T SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known silent c.606 p.T202 0.008 superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 333 0 0 139 69 33.1731 MYH7B 0 genome.wustl.edu 37 20 33577634 33577634 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 33577634 33577634 C T SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.1805 p.A602V 0.095 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 84 0 0 40 25 38.4615 EDEM2 0 genome.wustl.edu 37 20 33722673 33722673 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 33722673 33722673 G A SNP EDEM2 ENST00000374492 human ensembl 74_37 -1 known silent c.570 p.T190 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM2 HGNC ENSG00000088298 119 0 0 59 23 28.0488 CEP250 0 genome.wustl.edu 37 20 34060621 34060621 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 34060621 34060621 C T SNP CEP250 ENST00000397527 human ensembl 74_37 +1 known missense c.1174 p.R392C 0.993 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 301 0 0 139 62 30.8458 PHF20 0 genome.wustl.edu 37 20 34519240 34519240 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 34519240 34519240 C T SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.2174 p.A725V 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 143 0 0 80 11 12.0879 AAR2 0 genome.wustl.edu 37 20 34827850 34827850 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 34827850 34827850 T C SNP AAR2 ENST00000320849 human ensembl 74_37 +1 known silent c.60 p.T20 0.245 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 139 0 0 48 28 36.8421 AAR2 0 genome.wustl.edu 37 20 34828400 34828400 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 34828400 34828400 A T SNP AAR2 ENST00000320849 human ensembl 74_37 +1 known missense c.610 p.T204S 0.996 pfam_AAR2 pfam_AAR2 - no_errors AAR2 HGNC ENSG00000131043 193 0 0 103 45 30.4054 DLGAP4 0 genome.wustl.edu 37 20 35128652 35128652 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 35128652 35128652 A G SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.2150 p.D717G 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 129 0 0 98 10 9.25926 SAMHD1 0 genome.wustl.edu 37 20 35533903 35533903 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 35533903 35533903 T A SNP SAMHD1 ENST00000262878 human ensembl 74_37 -1 known missense c.1274 p.N425I 1.000 NULL pfam_HD_domain,pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,smart_HD/PDEase_dom,pfscan_SAM - no_errors SAMHD1 HGNC ENSG00000101347 94 0 0 74 5 6.32911 MROH8 0 genome.wustl.edu 37 20 35766264 35766264 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 35766264 35766264 T C SNP MROH8 ENST00000400441 human ensembl 74_37 -1 known missense c.1598 p.Y533C 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 33 0 0 22 14 38.8889 TGM2 0 genome.wustl.edu 37 20 36766734 36766734 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 36766734 36766734 C T SNP TGM2 ENST00000361475 human ensembl 74_37 -1 known missense c.1396 p.A466T 0.002 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM2 HGNC ENSG00000198959 108 0 0 66 6 8.33333 SIGLEC1 0 genome.wustl.edu 37 20 3677372 3677372 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 3677372 3677372 A G SNP SIGLEC1 ENST00000344754 human ensembl 74_37 -1 known silent c.2544 p.G848 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC1 HGNC ENSG00000088827 193 0 0 100 33 24.812 KIAA1755 0 genome.wustl.edu 37 20 36874452 36874452 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 36874452 36874452 G A SNP KIAA1755 ENST00000279024 human ensembl 74_37 -1 known missense c.80 p.T27I 0.969 NULL superfamily_CRAL-TRIO_dom - no_errors KIAA1755 HGNC ENSG00000149633 88 0 0 55 9 14.0625 C20orf27 0 genome.wustl.edu 37 20 3735139 3735139 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 3735139 3735139 G A SNP C20orf27 ENST00000217195 human ensembl 74_37 -1 known missense c.404 p.A135V 0.958 NULL NULL - no_errors C20orf27 HGNC ENSG00000101220 159 0 0 74 39 34.5133 SLC32A1 0 genome.wustl.edu 37 20 37357012 37357012 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 37357012 37357012 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.1308 p.R436 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 93 0 0 39 14 26.4151 ACTR5 0 genome.wustl.edu 37 20 37400389 37400389 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 37400389 37400389 G A SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.1754 p.R585H 0.991 NULL pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 77 0 0 34 14 29.1667 MAVS 0 genome.wustl.edu 37 20 3842924 3842924 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 3842924 3842924 G A SNP MAVS ENST00000358134 human ensembl 74_37 +1 known missense c.316 p.A106T 0.000 NULL NULL - no_errors MAVS HGNC ENSG00000088888 112 0 0 78 13 14.2857 PLCG1 0 genome.wustl.edu 37 20 39788775 39788775 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 39788775 39788775 A T SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.494 p.D165V 1.000 pirsf_PLC-gamma,pfscan_EF_hand_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 106 0 0 55 17 23.6111 PLCG1 0 genome.wustl.edu 37 20 39792749 39792749 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 39792749 39792749 G A SNP PLCG1 ENST00000244007 human ensembl 74_37 +1 known missense c.1125 p.M375I 1.000 pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pirsf_PLC-gamma,pfscan_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_dom,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2 - no_errors PLCG1 HGNC ENSG00000124181 154 0 0 85 42 33.0709 ZHX3 0 genome.wustl.edu 37 20 39832810 39832810 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 39832810 39832810 G T SNP ZHX3 ENST00000309060 human ensembl 74_37 -1 known missense c.747 p.N249K 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 169 0 0 76 35 31.5315 EMILIN3 0 genome.wustl.edu 37 20 39990930 39990930 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 39990930 39990930 T C SNP EMILIN3 ENST00000332312 human ensembl 74_37 -1 known missense c.1279 p.M427V 0.945 NULL pfam_EMI_domain,pfscan_EMI_domain - no_errors EMILIN3 HGNC ENSG00000183798 272 0 0 132 41 23.6994 TBC1D20 0 genome.wustl.edu 37 20 422520 422520 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 422520 422520 A T SNP TBC1D20 ENST00000354200 human ensembl 74_37 -1 known missense c.505 p.L169I 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 155 0 0 79 7 8.13953 MYBL2 0 genome.wustl.edu 37 20 42310462 42310462 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 42310462 42310462 G A SNP MYBL2 ENST00000217026 human ensembl 74_37 +1 known silent c.153 p.Q51 0.996 pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL2 HGNC ENSG00000101057 78 0 0 40 16 28.5714 JPH2 0 genome.wustl.edu 37 20 42744601 42744601 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 42744601 42744601 G A SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.1714 p.R572C 1.000 pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 21 0 0 7 8 53.3333 PABPC1L 0 genome.wustl.edu 37 20 43545398 43545398 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 43545398 43545398 T C SNP PABPC1L ENST00000217073 human ensembl 74_37 +1 known missense c.389 p.V130A 1.000 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 376 0 0 196 78 28.4672 SLPI 0 genome.wustl.edu 37 20 43882339 43882339 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 43882339 43882339 C T SNP SLPI ENST00000338380 human ensembl 74_37 -1 known missense c.121 p.A41T 0.000 pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core pfam_WAP-type_4-diS_core,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,prints_WAP-type_4-diS_core - no_errors SLPI HGNC ENSG00000124107 86 0 0 45 18 28.5714 DNTTIP1 0 genome.wustl.edu 37 20 44433785 44433785 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 44433785 44433785 T C SNP DNTTIP1 ENST00000372622 human ensembl 74_37 +1 known missense c.604 p.W202R 1.000 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 505 0 0 352 20 5.37634 SNX21 0 genome.wustl.edu 37 20 44469671 44469671 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 44469671 44469671 C T SNP SNX21 ENST00000491381 human ensembl 74_37 +1 known missense c.841 p.R281C 0.624 NULL pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 44 0 0 20 12 37.5 ZNF335 0 genome.wustl.edu 37 20 44596988 44596988 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 44596988 44596988 C T SNP ZNF335 ENST00000322927 human ensembl 74_37 -1 known silent c.456 p.V152 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF335 HGNC ENSG00000198026 284 0 0 178 57 24.2553 ZNF334 0 genome.wustl.edu 37 20 45130649 45130649 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 45130649 45130649 A G SNP ZNF334 ENST00000347606 human ensembl 74_37 -1 known silent c.1329 p.C443 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 ZNF334 HGNC ENSG00000198185 336 0 0 219 13 5.60345 NCOA3 0 genome.wustl.edu 37 20 46282157 46282157 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 46282157 46282157 G A SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known missense c.4271 p.C1424Y 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA3 HGNC ENSG00000124151 303 0 0 167 90 35.0195 PREX1 0 genome.wustl.edu 37 20 47307598 47307598 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 47307598 47307598 C T SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.1073 p.G358D 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 136 0 0 59 32 35.1648 ZNFX1 0 genome.wustl.edu 37 20 47864756 47864756 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 47864756 47864756 C T SNP ZNFX1 ENST00000371752 human ensembl 74_37 -1 known missense c.4805 p.R1602H 0.997 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 129 0 0 66 27 29.0323 B4GALT5 0 genome.wustl.edu 37 20 48257180 48257180 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 48257180 48257180 C T SNP B4GALT5 ENST00000371711 human ensembl 74_37 -1 known missense c.629 p.R210Q 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT5 HGNC ENSG00000158470 72 0 0 44 17 27.8689 SALL4 0 genome.wustl.edu 37 20 50400912 50400912 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 50400912 50400912 G A SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known silent c.3054 p.G1018 0.900 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 164 0 0 104 6 5.45455 SALL4 0 genome.wustl.edu 37 20 50406825 50406825 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 50406825 50406825 G T SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2197 p.P733T 0.138 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 87 0 0 44 17 27.8689 ZNF217 0 genome.wustl.edu 37 20 52199045 52199045 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 52199045 52199045 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.321 p.P107 0.945 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 323 0 0 161 62 27.8027 BCAS1 0 genome.wustl.edu 37 20 52645321 52645321 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 52645321 52645321 G A SNP BCAS1 ENST00000371440 human ensembl 74_37 -1 known silent c.333 p.A111 0.892 NULL NULL - no_errors BCAS1 HGNC ENSG00000064787 116 0 0 57 25 30.4878 PROKR2 0 genome.wustl.edu 37 20 5294607 5294607 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 5294607 5294607 C T SNP PROKR2 ENST00000217270 human ensembl 74_37 -1 known missense c.409 p.V137I 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PROKR2 HGNC ENSG00000101292 68 0 0 31 14 31.1111 C20orf85 0 genome.wustl.edu 37 20 56735847 56735847 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 56735847 56735847 A C SNP C20orf85 ENST00000371168 human ensembl 74_37 +1 known missense c.383 p.E128A 0.864 NULL NULL - no_errors C20orf85 HGNC ENSG00000124237 72 0 0 46 14 23.3333 VAPB 0 genome.wustl.edu 37 20 57019468 57019468 + RNA SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 57019468 57019468 A T SNP VAPB ENST00000265619 human ensembl 74_37 +1 known rna NULL NULL 0.586 - - - no_errors VAPB HGNC ENSG00000124164 24 0 0 7 2 22.2222 ZNF831 0 genome.wustl.edu 37 20 57766421 57766421 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 57766421 57766421 A G SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.347 p.N116S 0.896 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 58 0 0 34 9 20.9302 SYCP2 0 genome.wustl.edu 37 20 58456998 58456998 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 58456998 58456998 A G SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known splice_site c.2658+2 e26+2 1.000 - - - no_errors SYCP2 HGNC ENSG00000196074 60 0 0 35 4 10.2564 SYCP2 0 genome.wustl.edu 37 20 58482429 58482429 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 58482429 58482429 G A SNP SYCP2 ENST00000357552 human ensembl 74_37 -1 known silent c.1023 p.Y341 0.975 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 59 0 0 31 12 27.907 LRRN4 0 genome.wustl.edu 37 20 6022631 6022631 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 6022631 6022631 C T SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known nonsense c.1260 p.W420* 0.019 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 98 0 0 60 20 25 ADRM1 0 genome.wustl.edu 37 20 60883759 60883759 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 60883759 60883759 A G SNP ADRM1 ENST00000253003 human ensembl 74_37 +1 known missense c.1166 p.Q389R 0.984 NULL pfam_26S_Psome_Ubiquitin-recp_Rpn13 - no_errors ADRM1 HGNC ENSG00000130706 90 0 0 62 4 6.06061 LAMA5 0 genome.wustl.edu 37 20 60903407 60903407 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 60903407 60903407 G T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.4542 p.P1514 1.000 smart_EGF_laminin 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 18 0 0 12 3 20 DIDO1 0 genome.wustl.edu 37 20 61525797 61525797 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 61525797 61525797 T C SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known missense c.2540 p.H847R 1.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 137 0 0 94 6 6 DIDO1 0 genome.wustl.edu 37 20 61542719 61542719 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 61542719 61542719 C T SNP DIDO1 ENST00000266070 human ensembl 74_37 -1 known silent c.246 p.R82 0.020 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 73 0 0 31 7 18.4211 YTHDF1 0 genome.wustl.edu 37 20 61835087 61835087 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 61835087 61835087 A G SNP YTHDF1 ENST00000370339 human ensembl 74_37 -1 known missense c.205 p.S69P 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 113 1 0.877193 77 7 8.33333 HELZ2 0 genome.wustl.edu 37 20 62194856 62194856 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 62194856 62194856 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.5319 p.Y1773 0.442 NULL superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 8 0 0 0 3 100 RTEL1 0 genome.wustl.edu 37 20 62326159 62326159 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 62326159 62326159 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.3175 p.A1059T 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 89 0 0 49 17 25.7576 ARFRP1 0 genome.wustl.edu 37 20 62331872 62331872 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 62331872 62331872 G A SNP ARFRP1 ENST00000324228 human ensembl 74_37 -1 known missense c.529 p.R177C 1.000 pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_MIRO-like,pfam_Gprotein_alpha_su,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARFRP1 HGNC ENSG00000101246 137 0 0 58 25 30.1205 RGS19 0 genome.wustl.edu 37 20 62708243 62708243 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 62708243 62708243 T C SNP RGS19 ENST00000493165 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RGS19 HGNC ENSG00000171700 16 0 0 7 8 53.3333 PLCB4 0 genome.wustl.edu 37 20 9454009 9454009 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 9454009 9454009 G A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known silent c.3456 p.E1152 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 99 0 0 39 23 37.0968 TPTE 0 genome.wustl.edu 37 21 10942922 10942922 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 10942922 10942922 C T SNP TPTE ENST00000361285 human ensembl 74_37 -1 known missense c.665 p.R222Q 1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 145 0 0 78 16 17.0213 TPTE 0 genome.wustl.edu 37 21 10942995 10942995 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 10942995 10942995 G A SNP TPTE ENST00000361285 human ensembl 74_37 -1 known nonsense c.592 p.R198* 1.000 pfam_Ion_trans_dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 92 0 0 53 11 17.1875 BTG3 0 genome.wustl.edu 37 21 18981144 18981144 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 18981144 18981144 T C SNP BTG3 ENST00000464058 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors BTG3 HGNC ENSG00000154640 37 0 0 16 4 20 TMPRSS15 0 genome.wustl.edu 37 21 19775802 19775802 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 19775802 19775802 G A SNP TMPRSS15 ENST00000284885 human ensembl 74_37 -1 known silent c.138 p.S46 0.003 NULL pfam_Peptidase_S1,pfam_CUB_dom,pfam_MAM_dom,pfam_SEA_dom,pfam_LDrepeatLR_classA_rpt,pfam_Peptidase_S1A_nudel,pfam_SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_Srcr_rcpt-rel,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_MAM_dom,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,pfscan_SEA_dom,pfscan_SRCR,pfscan_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt - no_errors TMPRSS15 HGNC ENSG00000154646 226 1 0.440529 107 50 31.8471 MRPL39 0 genome.wustl.edu 37 21 26965134 26965134 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 26965134 26965134 A G SNP MRPL39 ENST00000307301 human ensembl 74_37 -1 known missense c.911 p.V304A 0.008 superfamily_Thr/Ala-tRNA-synth_IIc_edit superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_TGS-like - no_errors MRPL39 HGNC ENSG00000154719 82 0 0 36 11 23.4043 ADAMTS5 0 genome.wustl.edu 37 21 28306946 28306946 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 28306946 28306946 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.1528 p.G510S 0.992 smart_ADAM_Cys-rich pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,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-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 100 0 0 33 23 41.0714 USP16 0 genome.wustl.edu 37 21 30414846 30414846 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 30414846 30414846 T C SNP USP16 ENST00000334352 human ensembl 74_37 +1 known silent c.1176 p.D392 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP16 HGNC ENSG00000156256 165 0 0 97 8 7.61905 CCT8 0 genome.wustl.edu 37 21 30432959 30432959 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 30432959 30432959 T C SNP CCT8 ENST00000286788 human ensembl 74_37 -1 known missense c.1472 p.D491G 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_theta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_theta - no_errors CCT8 HGNC ENSG00000156261 180 0 0 104 45 30.2013 CCT8 0 genome.wustl.edu 37 21 30439211 30439211 + Splice_Site SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 30439211 30439211 C T SNP CCT8 ENST00000286788 human ensembl 74_37 -1 known splice_site c.562+1 e5+1 1.000 - - - no_errors CCT8 HGNC ENSG00000156261 90 0 0 38 26 40.625 BACH1 0 genome.wustl.edu 37 21 30693751 30693751 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 30693751 30693751 C T SNP BACH1 ENST00000286800 human ensembl 74_37 +1 known silent c.150 p.S50 0.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH1 HGNC ENSG00000156273 148 1 0.671141 64 41 39.0476 KRTAP19-7 0 genome.wustl.edu 37 21 31933570 31933570 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 31933570 31933570 G A SNP KRTAP19-7 ENST00000334849 human ensembl 74_37 -1 known silent c.39 p.Y13 0.003 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-7 HGNC ENSG00000244362 198 1 0.502513 83 38 31.405 TIAM1 0 genome.wustl.edu 37 21 32638371 32638371 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 32638371 32638371 A G SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.918 p.I306 0.998 NULL 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 141 0 0 64 37 36.6337 OLIG2 0 genome.wustl.edu 37 21 34399391 34399391 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 34399391 34399391 G A SNP OLIG2 ENST00000333337 human ensembl 74_37 +1 known missense c.221 p.G74D 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG2 HGNC ENSG00000205927 29 0 0 10 15 60 IFNAR1 0 genome.wustl.edu 37 21 34725143 34725143 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 34725143 34725143 C T SNP IFNAR1 ENST00000270139 human ensembl 74_37 +1 known missense c.1223 p.A408V 0.678 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 205 0 0 102 37 26.6187 ITSN1 0 genome.wustl.edu 37 21 35169909 35169909 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 35169909 35169909 G A SNP ITSN1 ENST00000381285 human ensembl 74_37 +1 known missense c.2179 p.A727T 0.009 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,superfamily_P-loop_NTPase,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN1 HGNC ENSG00000205726 92 0 0 67 8 10.6667 CBR3 0 genome.wustl.edu 37 21 37507764 37507764 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 37507764 37507764 G A SNP CBR3 ENST00000290354 human ensembl 74_37 +1 known missense c.274 p.A92T 0.999 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors CBR3 HGNC ENSG00000159231 46 0 0 16 7 30.4348 MORC3 0 genome.wustl.edu 37 21 37710133 37710133 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 37710133 37710133 G A SNP MORC3 ENST00000400485 human ensembl 74_37 +1 known missense c.349 p.V117I 0.988 superfamily_HATPase_ATP-bd pfam_Znf_CW,pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC3 HGNC ENSG00000159256 250 0 0 124 50 28.7356 CHAF1B 0 genome.wustl.edu 37 21 37759988 37759988 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 37759988 37759988 T C SNP CHAF1B ENST00000314103 human ensembl 74_37 +1 known silent c.219 p.R73 0.855 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Gprotein_B - no_errors CHAF1B HGNC ENSG00000159259 377 1 0.26455 218 73 25.0859 SIM2 0 genome.wustl.edu 37 21 38081561 38081561 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 38081561 38081561 C T SNP SIM2 ENST00000460783 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SIM2 HGNC ENSG00000159263 14 0 0 4 7 63.6364 TTC3 0 genome.wustl.edu 37 21 38529006 38529006 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 38529006 38529006 A C SNP TTC3 ENST00000354749 human ensembl 74_37 +1 known missense c.2790 p.K930N 0.911 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 186 0 0 82 43 34.4 DYRK1A 0 genome.wustl.edu 37 21 38845110 38845110 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 38845110 38845110 G A SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known silent c.135 p.Q45 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 DYRK1A HGNC ENSG00000157540 213 0 0 108 43 28.4768 KCNJ6 0 genome.wustl.edu 37 21 39087116 39087116 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 39087116 39087116 G A SNP KCNJ6 ENST00000288309 human ensembl 74_37 -1 known missense c.344 p.A115V 1.000 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2 - no_errors KCNJ6 HGNC ENSG00000157542 317 0 0 135 63 31.8182 DSCR4 0 genome.wustl.edu 37 21 39427042 39427042 + Nonsense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 39427042 39427042 A T SNP DSCR4 ENST00000328264 human ensembl 74_37 -1 known nonsense c.264 p.C88* 0.000 NULL NULL - no_errors DSCR4 HGNC ENSG00000184029 198 0 0 116 53 31.3609 ERG 0 genome.wustl.edu 37 21 39755781 39755781 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 39755781 39755781 G A SNP ERG ENST00000398919 human ensembl 74_37 -1 known silent c.1005 p.S335 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 ERG HGNC ENSG00000157554 149 0 0 83 33 28.4483 RIPK4 0 genome.wustl.edu 37 21 43161435 43161435 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 43161435 43161435 G A SNP RIPK4 ENST00000352483 human ensembl 74_37 -1 known missense c.2062 p.P688S 0.876 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK4 HGNC ENSG00000183421 155 0 0 82 11 11.828 C2CD2 0 genome.wustl.edu 37 21 43342131 43342131 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 43342131 43342131 C A SNP C2CD2 ENST00000380486 human ensembl 74_37 -1 known missense c.442 p.G148C 0.000 NULL pfam_C2_dom,superfamily_C2_dom - no_errors C2CD2 HGNC ENSG00000157617 114 0 0 52 26 33.3333 ZBTB21 0 genome.wustl.edu 37 21 43414117 43414117 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 43414117 43414117 A T SNP ZBTB21 ENST00000310826 human ensembl 74_37 -1 known missense c.88 p.C30S 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB21 HGNC ENSG00000173276 242 0 0 118 56 32.1839 SLC37A1 0 genome.wustl.edu 37 21 43955631 43955631 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 43955631 43955631 G A SNP SLC37A1 ENST00000352133 human ensembl 74_37 +1 known silent c.321 p.L107 0.991 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC37A1 HGNC ENSG00000160190 259 0 0 148 69 31.7972 PKNOX1 0 genome.wustl.edu 37 21 44430270 44430270 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 44430270 44430270 T C SNP PKNOX1 ENST00000291547 human ensembl 74_37 +1 known missense c.287 p.F96S 1.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PKNOX1 HGNC ENSG00000160199 111 0 0 61 4 6.15385 SIK1 0 genome.wustl.edu 37 21 44840316 44840316 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 44840316 44840316 C T SNP SIK1 ENST00000270162 human ensembl 74_37 -1 known missense c.770 p.R257H 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_Ser/Thr_kinase_SIK1/2,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,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 51 0 0 16 16 50 PDXK 0 genome.wustl.edu 37 21 45161602 45161602 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 45161602 45161602 A G SNP PDXK ENST00000291565 human ensembl 74_37 +1 known missense c.197 p.Y66C 1.000 pfam_PfkB_dom,tigrfam_PyrdxlP_synth_PyrdxlKinase pfam_PfkB_dom,pfam_HMP-P_kinase-1,tigrfam_PyrdxlP_synth_PyrdxlKinase - no_errors PDXK HGNC ENSG00000160209 66 0 0 58 5 7.93651 PWP2 0 genome.wustl.edu 37 21 45534550 45534550 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 45534550 45534550 C T SNP PWP2 ENST00000291576 human ensembl 74_37 +1 known missense c.371 p.A124V 1.000 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP2 HGNC ENSG00000241945 154 0 0 81 48 37.2093 C21orf2 0 genome.wustl.edu 37 21 45752928 45752928 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 45752928 45752928 G A SNP C21orf2 ENST00000339818 human ensembl 74_37 -1 known silent c.361 p.L121 1.000 smart_U2A'_phosphoprotein32A_C smart_U2A'_phosphoprotein32A_C - no_errors C21orf2 HGNC ENSG00000160226 32 0 0 15 11 42.3077 TSPEAR 0 genome.wustl.edu 37 21 45953666 45953666 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 45953666 45953666 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.444 p.R148 0.000 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR - no_errors TSPEAR HGNC ENSG00000175894 71 0 0 28 25 47.1698 KRTAP10-6 0 genome.wustl.edu 37 21 46011724 46011724 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 46011724 46011724 G A SNP KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known silent c.642 p.C214 0.733 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 345 1 0.289017 191 61 24.2063 KRTAP10-9 0 genome.wustl.edu 37 21 46047214 46047214 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 46047214 46047214 C T SNP KRTAP10-9 ENST00000397911 human ensembl 74_37 +1 known silent c.126 p.C42 0.711 NULL NULL - no_errors KRTAP10-9 HGNC ENSG00000221837 162 0 0 74 27 26.7327 ITGB2 0 genome.wustl.edu 37 21 46313382 46313382 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 46313382 46313382 G A SNP ITGB2 ENST00000302347 human ensembl 74_37 -1 known silent c.1161 p.S387 0.999 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt_dom,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB2 HGNC ENSG00000160255 320 0 0 216 20 8.47458 FAM207A 0 genome.wustl.edu 37 21 46363606 46363606 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 46363606 46363606 C T SNP FAM207A ENST00000291634 human ensembl 74_37 +1 known missense c.137 p.A46V 0.014 NULL NULL - no_errors FAM207A HGNC ENSG00000160256 150 0 0 89 31 25.8333 ADARB1 0 genome.wustl.edu 37 21 46591577 46591577 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 46591577 46591577 T C SNP ADARB1 ENST00000360697 human ensembl 74_37 +1 known silent c.6 p.D2 0.018 NULL 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 111 0 0 86 8 8.51064 MCM3AP 0 genome.wustl.edu 37 21 47685905 47685905 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 47685905 47685905 A G SNP MCM3AP ENST00000291688 human ensembl 74_37 -1 known missense c.2965 p.Y989H 1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 310 0 0 123 90 42.2535 YBEY 0 genome.wustl.edu 37 21 47711299 47711299 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 47711299 47711299 T C SNP YBEY ENST00000329319 human ensembl 74_37 +1 known silent c.262 p.L88 0.916 pfam_YbeY,tigrfam_YbeY pfam_YbeY,tigrfam_YbeY - no_errors YBEY HGNC ENSG00000182362 149 0 0 76 30 28.3019 C21orf58 0 genome.wustl.edu 37 21 47738113 47738113 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 47738113 47738113 G A SNP C21orf58 ENST00000291691 human ensembl 74_37 -1 known missense c.122 p.A41V 0.000 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 153 0 0 84 7 7.69231 DIP2A 0 genome.wustl.edu 37 21 47961794 47961794 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 47961794 47961794 A G SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.2165 p.Q722R 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 98 0 0 81 6 6.89655 TEKT4P2 0 genome.wustl.edu 37 21 9907293 9907293 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 9907293 9907293 T C SNP TEKT4P2 ENST00000416067 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors TEKT4P2 HGNC ENSG00000188681 72 0 0 38 5 11.6279 XKR3 0 genome.wustl.edu 37 22 17264918 17264918 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 17264918 17264918 G T SNP XKR3 ENST00000331428 human ensembl 74_37 -1 known missense c.971 p.A324E 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC ENSG00000172967 236 0 0 129 9 6.52174 XKR3 0 genome.wustl.edu 37 22 17265193 17265193 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 17265193 17265193 C T SNP XKR3 ENST00000331428 human ensembl 74_37 -1 known silent c.696 p.P232 0.006 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR3 HGNC ENSG00000172967 69 0 0 25 15 37.5 CECR1 0 genome.wustl.edu 37 22 17662465 17662465 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 17662465 17662465 A G SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.1444 p.Y482H 1.000 pfam_A/AMP_deaminase_dom,tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 366 0 0 251 29 10.3571 CECR2 0 genome.wustl.edu 37 22 17984004 17984004 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 17984004 17984004 A G SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.760 p.S254G 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 69 0 0 29 14 32.5581 ATP6V1E1 0 genome.wustl.edu 37 22 18111420 18111420 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 18111420 18111420 C T SNP ATP6V1E1 ENST00000460085 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors ATP6V1E1 HGNC ENSG00000131100 266 2 0.746269 142 77 35.1598 TSSK2 0 genome.wustl.edu 37 22 19119658 19119658 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 19119658 19119658 T C SNP TSSK2 ENST00000399635 human ensembl 74_37 +1 known missense c.746 p.I249T 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 TSSK2 HGNC ENSG00000206203 159 1 0.625 79 35 30.7018 SLC25A1 0 genome.wustl.edu 37 22 19165307 19165307 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 19165307 19165307 A G SNP SLC25A1 ENST00000215882 human ensembl 74_37 -1 known missense c.374 p.L125P 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 SLC25A1 HGNC ENSG00000100075 44 0 0 26 23 46.9388 HIRA 0 genome.wustl.edu 37 22 19341012 19341012 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 19341012 19341012 G A SNP HIRA ENST00000263208 human ensembl 74_37 -1 known silent c.2715 p.S905 1.000 pfam_Hira pfam_Hira,pfam_WD40_repeat,pfam_HIRA_B_motif,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors HIRA HGNC ENSG00000100084 63 0 0 20 7 25.9259 PI4KA 0 genome.wustl.edu 37 22 21101932 21101932 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 21101932 21101932 G A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.3302 p.A1101V 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 128 0 0 76 36 32.1429 LZTR1 0 genome.wustl.edu 37 22 21348936 21348936 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 21348936 21348936 T C SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.1705 p.Y569H 1.000 superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 86 0 0 50 5 9.09091 HIC2 0 genome.wustl.edu 37 22 21799829 21799829 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 21799829 21799829 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known silent c.645 p.G215 0.932 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 50 0 0 26 12 31.5789 HIC2 0 genome.wustl.edu 37 22 21800560 21800560 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 21800560 21800560 C T SNP HIC2 ENST00000407464 human ensembl 74_37 +1 known missense c.1376 p.A459V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC2 HGNC ENSG00000169635 214 0 0 117 51 30.3571 TOP3B 0 genome.wustl.edu 37 22 22317239 22317239 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 22317239 22317239 A G SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1231 p.Y411H 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd,prints_Topo_IA pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 97 0 0 56 8 12.5 TOP3B 0 genome.wustl.edu 37 22 22318552 22318552 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 22318552 22318552 T C SNP TOP3B ENST00000357179 human ensembl 74_37 -1 known missense c.1079 p.H360R 1.000 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd pfam_Topo_IA_cen,pfam_Toprim_domain,superfamily_Topo_IA_core_domain,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3B HGNC ENSG00000100038 122 1 0.813008 57 32 35.9551 GNAZ 0 genome.wustl.edu 37 22 23437986 23437986 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 23437986 23437986 A G SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.104 p.K35R 1.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 254 0 0 136 55 28.7958 GGT1 0 genome.wustl.edu 37 22 25024077 25024077 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 25024077 25024077 A T SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.1366 p.T456S 0.013 pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 107 0 0 64 25 28.0899 SGSM1 0 genome.wustl.edu 37 22 25263061 25263061 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 25263061 25263061 G A SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.928 p.V310I 1.000 NULL pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 38 0 0 17 12 41.3793 MYO18B 0 genome.wustl.edu 37 22 26165129 26165129 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 26165129 26165129 T C SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.1246 p.C416R 0.000 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 33 0 0 12 7 36.8421 TFIP11 0 genome.wustl.edu 37 22 26888169 26888169 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 26888169 26888169 T C SNP TFIP11 ENST00000405938 human ensembl 74_37 -1 known missense c.2324 p.D775G 1.000 NULL pfam_GCFC_dom,pfam_TIP_N,pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors TFIP11 HGNC ENSG00000100109 134 0 0 63 25 28.4091 CHEK2 0 genome.wustl.edu 37 22 29083889 29083889 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 29083889 29083889 A G SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1757 p.L586S 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 78 0 0 41 19 31.6667 CHEK2 0 genome.wustl.edu 37 22 29083895 29083895 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 29083895 29083895 G C SNP CHEK2 ENST00000382580 human ensembl 74_37 -1 known missense c.1751 p.A584G 0.268 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_FHA_dom,superfamily_Kinase-like_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FHA_dom,pfscan_Prot_kinase_dom - no_errors CHEK2 HGNC ENSG00000183765 86 0 0 44 16 26.6667 CCDC117 0 genome.wustl.edu 37 22 29182081 29182081 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 29182081 29182081 C T SNP CCDC117 ENST00000249064 human ensembl 74_37 +1 known missense c.607 p.R203C 1.000 NULL NULL - no_errors CCDC117 HGNC ENSG00000159873 170 0 0 76 22 22.449 RFPL1 0 genome.wustl.edu 37 22 29837922 29837922 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 29837922 29837922 C T SNP RFPL1 ENST00000354373 human ensembl 74_37 +1 known silent c.765 p.N255 0.007 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin 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 123 0 0 67 32 32.3232 UQCR10 0 genome.wustl.edu 37 22 30163472 30163472 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 30163472 30163472 G A SNP UQCR10 ENST00000330029 human ensembl 74_37 +1 known missense c.85 p.V29I 0.999 pfam_QCR9,superfamily_QCR9 pfam_QCR9,superfamily_QCR9 - no_errors UQCR10 HGNC ENSG00000184076 126 0 0 75 5 6.25 SEC14L3 0 genome.wustl.edu 37 22 30864625 30864625 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 30864625 30864625 A G SNP SEC14L3 ENST00000215812 human ensembl 74_37 -1 known missense c.293 p.V98A 1.000 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L3 HGNC ENSG00000100012 214 0 0 160 14 8.04598 PLA2G3 0 genome.wustl.edu 37 22 31533758 31533758 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 31533758 31533758 G T SNP PLA2G3 ENST00000215885 human ensembl 74_37 -1 known missense c.1004 p.S335Y 0.049 NULL pfam_PLipase_A2,superfamily_PLipase_A2_dom - no_errors PLA2G3 HGNC ENSG00000100078 424 1 0.235294 299 57 16.0112 LIMK2 0 genome.wustl.edu 37 22 31663869 31663869 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 31663869 31663869 A G SNP LIMK2 ENST00000331728 human ensembl 74_37 +1 known silent c.1236 p.T412 0.001 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 151 0 0 66 22 25 PATZ1 0 genome.wustl.edu 37 22 31737606 31737606 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 31737606 31737606 A G SNP PATZ1 ENST00000215919 human ensembl 74_37 -1 known missense c.1399 p.W467R 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors PATZ1 HGNC ENSG00000100105 138 0 0 103 16 13.4454 PRR14L 0 genome.wustl.edu 37 22 32108285 32108285 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 32108285 32108285 G A SNP PRR14L ENST00000397493 human ensembl 74_37 -1 known missense c.5540 p.T1847I 0.987 NULL NULL - no_errors PRR14L HGNC ENSG00000183530 171 0 0 118 15 11.2782 PVALB 0 genome.wustl.edu 37 22 37209708 37209708 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 37209708 37209708 C T SNP PVALB ENST00000216200 human ensembl 74_37 -1 known missense c.286 p.G96S 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors PVALB HGNC ENSG00000100362 232 0 0 133 43 24.4318 SSTR3 0 genome.wustl.edu 37 22 37603130 37603130 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 37603130 37603130 C T SNP SSTR3 ENST00000328544 human ensembl 74_37 -1 known missense c.713 p.R238H 0.550 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_3,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Somatstn_rcpt_5,prints_Neuropept_B/W_rcpt - no_errors SSTR3 HGNC ENSG00000183473 90 0 0 43 16 27.1186 MFNG 0 genome.wustl.edu 37 22 37881992 37881992 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 37881992 37881992 A G SNP MFNG ENST00000356998 human ensembl 74_37 -1 known missense c.224 p.L75P 1.000 pfam_Fringe-like,pirsf_Fringe pfam_Fringe-like,pirsf_Fringe - no_errors MFNG HGNC ENSG00000100060 74 0 0 49 3 5.76923 SH3BP1 0 genome.wustl.edu 37 22 38051301 38051301 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 38051301 38051301 G A SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known silent c.1716 p.R572 1.000 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 31 0 0 20 6 23.0769 BAIAP2L2 0 genome.wustl.edu 37 22 38481311 38481311 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 38481311 38481311 C T SNP BAIAP2L2 ENST00000381669 human ensembl 74_37 -1 known missense c.1586 p.R529H 1.000 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L2 HGNC ENSG00000128298 58 0 0 38 17 30.9091 GTPBP1 0 genome.wustl.edu 37 22 39123224 39123224 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 39123224 39123224 C T SNP GTPBP1 ENST00000216044 human ensembl 74_37 +1 known missense c.1408 p.R470C 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 294 0 0 165 74 30.9623 APOBEC3D 0 genome.wustl.edu 37 22 39421135 39421135 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 39421135 39421135 C T SNP APOBEC3D ENST00000216099 human ensembl 74_37 +1 known nonsense c.271 p.R91* 0.000 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3D HGNC ENSG00000243811 174 0 0 85 32 27.3504 TAB1 0 genome.wustl.edu 37 22 39822886 39822886 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 39822886 39822886 A G SNP TAB1 ENST00000216160 human ensembl 74_37 +1 known missense c.1100 p.Y367C 1.000 NULL pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors TAB1 HGNC ENSG00000100324 149 0 0 87 7 7.44681 MGAT3 0 genome.wustl.edu 37 22 39883966 39883966 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 39883966 39883966 C T SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.614 p.P205L 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 29 0 0 10 9 47.3684 TNRC6B 0 genome.wustl.edu 37 22 40718965 40718965 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 40718965 40718965 C T SNP TNRC6B ENST00000454349 human ensembl 74_37 +1 known missense c.5222 p.A1741V 0.927 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 52 0 0 24 16 40 MKL1 0 genome.wustl.edu 37 22 40827407 40827407 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 40827407 40827407 A G SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known splice_site c.139+2 e3+2 1.000 - - - no_errors MKL1 HGNC ENSG00000196588 579 1 0.172414 287 111 27.8894 MCHR1 0 genome.wustl.edu 37 22 41077604 41077604 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 41077604 41077604 G A SNP MCHR1 ENST00000249016 human ensembl 74_37 +1 known missense c.941 p.R314H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH1_rcpt,prints_MCH_rcpt,prints_GPCR_Rhodpsn - no_errors MCHR1 HGNC ENSG00000128285 154 0 0 97 28 22.4 EP300 0 genome.wustl.edu 37 22 41523566 41523566 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 41523566 41523566 C T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.982 p.H328Y 1.000 superfamily_Znf_TAZ 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 286 0 0 139 75 35.0467 L3MBTL2 0 genome.wustl.edu 37 22 41621074 41621074 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 41621074 41621074 A G SNP L3MBTL2 ENST00000216237 human ensembl 74_37 +1 known missense c.1355 p.K452R 1.000 pfam_Mbt,smart_Mbt,pfscan_Mbt pfam_Mbt,smart_Mbt,pfscan_Mbt,pfscan_Znf_FCS - no_errors L3MBTL2 HGNC ENSG00000100395 119 1 0.833333 88 6 6.38298 TCF20 0 genome.wustl.edu 37 22 42610373 42610373 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 42610373 42610373 C T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known silent c.939 p.Q313 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 168 0 0 92 44 32.3529 SCUBE1 0 genome.wustl.edu 37 22 43634937 43634937 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 43634937 43634937 C A SNP SCUBE1 ENST00000360835 human ensembl 74_37 -1 known missense c.751 p.G251C 1.000 smart_EG-like_dom,smart_EGF-like_Ca-bd_dom pfam_EGF-like_Ca-bd_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,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 SCUBE1 HGNC ENSG00000159307 48 0 0 31 9 22.5 PARVB 0 genome.wustl.edu 37 22 44532343 44532343 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 44532343 44532343 C T SNP PARVB ENST00000406477 human ensembl 74_37 +1 known missense c.736 p.R246W 1.000 superfamily_CH-domain pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors PARVB HGNC ENSG00000188677 114 0 0 60 5 7.69231 KIAA0930 0 genome.wustl.edu 37 22 45607889 45607889 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 45607889 45607889 A G SNP KIAA0930 ENST00000251993 human ensembl 74_37 -1 known missense c.179 p.V60A 1.000 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 146 0 0 98 10 9.25926 FAM118A 0 genome.wustl.edu 37 22 45723730 45723730 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 45723730 45723730 G A SNP FAM118A ENST00000216214 human ensembl 74_37 +1 known missense c.308 p.G103D 0.999 NULL superfamily_RNaseH-like_dom - no_errors FAM118A HGNC ENSG00000100376 111 0 0 40 21 34.4262 SMC1B 0 genome.wustl.edu 37 22 45768124 45768124 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 45768124 45768124 T A SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.2107 p.T703S 0.171 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 134 0 0 66 7 9.58904 PKDREJ 0 genome.wustl.edu 37 22 46658199 46658199 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 46658199 46658199 G A SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.1021 p.L341F 0.000 pfam_PKD/REJ-like,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 279 0 0 208 12 5.45455 CELSR1 0 genome.wustl.edu 37 22 46860228 46860228 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 46860228 46860228 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known missense c.3559 p.V1187I 1.000 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 CELSR1 HGNC ENSG00000075275 144 0 0 68 31 31.3131 SBF1 0 genome.wustl.edu 37 22 50897976 50897976 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 50897976 50897976 G A SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.3611 p.A1204V 0.998 pfam_Myotubularin-like_Pase_dom pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 65 0 0 31 20 39.2157 SBF1 0 genome.wustl.edu 37 22 50900712 50900712 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 50900712 50900712 C T SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.2318 p.S773N 1.000 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF1 HGNC ENSG00000100241 135 0 0 81 23 22.1154 SHANK3 0 genome.wustl.edu 37 22 51160716 51160716 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 51160716 51160716 G A SNP SHANK3 ENST00000262795 human ensembl 74_37 +1 known silent c.4503 p.G1501 1.000 NULL pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK3 HGNC ENSG00000251322 85 0 0 76 6 7.31707 CEP97 0 genome.wustl.edu 37 3 101451384 101451384 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 101451384 101451384 A G SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.614 p.N205S 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 110 0 0 54 23 29.8701 IRAK2 0 genome.wustl.edu 37 3 10242142 10242142 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 10242142 10242142 G A SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.367 p.A123T 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 332 0 0 159 52 24.6445 MORC1 0 genome.wustl.edu 37 3 108688562 108688562 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 108688562 108688562 T C SNP MORC1 ENST00000232603 human ensembl 74_37 -1 known missense c.2558 p.Q853R 0.553 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 192 0 0 89 32 26.4463 SLC6A11 0 genome.wustl.edu 37 3 10976880 10976880 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 10976880 10976880 C T SNP SLC6A11 ENST00000254488 human ensembl 74_37 +1 known missense c.1741 p.P581S 0.263 NULL pfam_Na/ntran_symport,superfamily_S-AdoMet_deCO2ase_core,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT3 - no_errors SLC6A11 HGNC ENSG00000132164 248 0 0 151 12 7.36196 SPICE1 0 genome.wustl.edu 37 3 113176104 113176104 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 113176104 113176104 C T SNP SPICE1 ENST00000295872 human ensembl 74_37 -1 known silent c.1536 p.V512 1.000 NULL NULL - no_errors SPICE1 HGNC ENSG00000163611 174 0 0 86 51 37.2263 UPK1B 0 genome.wustl.edu 37 3 118906708 118906708 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 118906708 118906708 C T SNP UPK1B ENST00000264234 human ensembl 74_37 +1 known silent c.156 p.N52 0.335 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1B HGNC ENSG00000114638 312 0 0 132 61 31.6062 POLQ 0 genome.wustl.edu 37 3 121158854 121158854 + Silent SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 121158854 121158854 A C SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.7374 p.P2458 0.991 pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 133 0 0 61 40 39.604 POLQ 0 genome.wustl.edu 37 3 121229067 121229067 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 121229067 121229067 A G SNP POLQ ENST00000264233 human ensembl 74_37 -1 known silent c.1635 p.S545 1.000 pfscan_Helicase_C pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 153 1 0.649351 72 38 34.5455 GOLGB1 0 genome.wustl.edu 37 3 121412910 121412910 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 121412910 121412910 G A SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.6445 p.R2149C 0.166 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 541 0 0 265 110 29.3333 PARP14 0 genome.wustl.edu 37 3 122419228 122419228 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 122419228 122419228 T C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known silent c.1827 p.L609 0.000 NULL pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 45 0 0 23 22 48.8889 ADCY5 0 genome.wustl.edu 37 3 123167070 123167070 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 123167070 123167070 C T SNP ADCY5 ENST00000462833 human ensembl 74_37 -1 known missense c.323 p.G108D 0.548 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 8 0 0 1 3 75 KALRN 0 genome.wustl.edu 37 3 124174097 124174097 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 124174097 124174097 C T SNP KALRN ENST00000360013 human ensembl 74_37 +1 known missense c.3620 p.T1207M 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 169 0 0 94 36 27.6923 HEG1 0 genome.wustl.edu 37 3 124728615 124728615 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 124728615 124728615 T C SNP HEG1 ENST00000311127 human ensembl 74_37 -1 known missense c.3127 p.T1043A 1.000 pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 74 0 0 50 3 5.66038 PLXNA1 0 genome.wustl.edu 37 3 126724974 126724974 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 126724974 126724974 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.1950 p.K650 1.000 NULL 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 122 0 0 62 29 31.8681 PLXNA1 0 genome.wustl.edu 37 3 126731000 126731000 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 126731000 126731000 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.2312 p.S771L 1.000 NULL 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 42 0 0 31 11 26.1905 PLXNA1 0 genome.wustl.edu 37 3 126748300 126748300 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 126748300 126748300 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.4791 p.S1597 0.145 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 297 0 0 127 58 31.3514 MCM2 0 genome.wustl.edu 37 3 127338063 127338063 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 127338063 127338063 A G SNP MCM2 ENST00000265056 human ensembl 74_37 +1 known missense c.2207 p.N736S 1.000 pfam_MCM_DNA-dep_ATPase,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_MCM2,pfam_Mg_chelatse_chII,pfam_ATPase_AAA-3,pfam_ATPase_dyneun-rel_AAA,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM2,prints_MCM_DNA-dep_ATPase - no_errors MCM2 HGNC ENSG00000073111 161 0 0 105 29 21.6418 C3orf27 0 genome.wustl.edu 37 3 128292138 128292138 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 128292138 128292138 G A SNP C3orf27 ENST00000356020 human ensembl 74_37 -1 known silent c.435 p.F145 0.000 NULL NULL - no_errors C3orf27 HGNC ENSG00000198685 94 0 0 48 7 12.7273 ACAD9 0 genome.wustl.edu 37 3 128598515 128598515 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 128598515 128598515 G A SNP ACAD9 ENST00000505602 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ACAD9 HGNC ENSG00000177646 420 0 0 268 15 5.30035 IFT122 0 genome.wustl.edu 37 3 129197018 129197018 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 129197018 129197018 G A SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.1460 p.C487Y 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 81 0 0 37 12 24.4898 RHO 0 genome.wustl.edu 37 3 129252455 129252455 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 129252455 129252455 G A SNP RHO ENST00000296271 human ensembl 74_37 +1 known missense c.941 p.R314Q 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_Rhodopsin_N,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Rhodopsin,prints_GPCR_Rhodpsn,prints_Opsin - no_errors RHO HGNC ENSG00000163914 298 0 0 143 61 29.902 TMCC1 0 genome.wustl.edu 37 3 129389611 129389611 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 129389611 129389611 G A SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.1073 p.T358I 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 163 0 0 82 39 32.2314 TRH 0 genome.wustl.edu 37 3 129695892 129695892 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 129695892 129695892 C T SNP TRH ENST00000302649 human ensembl 74_37 +1 known missense c.562 p.P188S 0.998 pfam_TRH,pirsf_TRH pfam_TRH,pirsf_TRH - no_errors TRH HGNC ENSG00000170893 130 0 0 46 28 37.8378 PIK3R4 0 genome.wustl.edu 37 3 130463621 130463621 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 130463621 130463621 C T SNP PIK3R4 ENST00000356763 human ensembl 74_37 -1 known missense c.442 p.D148N 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 170 0 0 114 22 16.1765 ATP2C1 0 genome.wustl.edu 37 3 130694309 130694309 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 130694309 130694309 G A SNP ATP2C1 ENST00000393221 human ensembl 74_37 +1 known missense c.1649 p.R550H 0.013 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1 pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C1 HGNC ENSG00000017260 81 0 0 37 16 30.1887 ASTE1 0 genome.wustl.edu 37 3 130735120 130735120 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 130735120 130735120 G A SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.1577 p.A526V 0.096 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 249 0 0 113 47 29.375 CPNE4 0 genome.wustl.edu 37 3 131404727 131404727 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 131404727 131404727 G A SNP CPNE4 ENST00000502818 human ensembl 74_37 -1 known nonsense c.637 p.R213* 1.000 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 - no_errors CPNE4 HGNC ENSG00000196353 91 0 0 32 19 37.2549 DNAJC13 0 genome.wustl.edu 37 3 132199275 132199275 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 132199275 132199275 T C SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known silent c.2835 p.L945 0.745 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 101 0 0 66 8 10.8108 TF 0 genome.wustl.edu 37 3 133467393 133467393 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 133467393 133467393 A G SNP TF ENST00000402696 human ensembl 74_37 +1 known missense c.181 p.K61E 0.939 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors TF HGNC ENSG00000091513 79 0 0 52 20 27.7778 NUP210 0 genome.wustl.edu 37 3 13372083 13372083 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 13372083 13372083 A G SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.3987 p.V1329 0.033 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 222 0 0 116 51 30.5389 NUP210 0 genome.wustl.edu 37 3 13381417 13381417 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 13381417 13381417 G A SNP NUP210 ENST00000254508 human ensembl 74_37 -1 known silent c.3408 p.G1136 0.796 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2 - no_errors NUP210 HGNC ENSG00000132182 309 0 0 258 21 7.52688 CLDN18 0 genome.wustl.edu 37 3 137729134 137729134 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 137729134 137729134 G A SNP CLDN18 ENST00000183605 human ensembl 74_37 +1 known missense c.67 p.A23T 0.040 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin18,prints_Claudin - no_errors CLDN18 HGNC ENSG00000066405 59 0 0 26 13 33.3333 WNT7A 0 genome.wustl.edu 37 3 13860879 13860879 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 13860879 13860879 G A SNP WNT7A ENST00000285018 human ensembl 74_37 -1 known silent c.612 p.G204 0.040 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 215 0 0 110 62 36.0465 COPB2 0 genome.wustl.edu 37 3 139094430 139094430 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 139094430 139094430 T C SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known silent c.531 p.P177 1.000 pirsf_COPB2,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,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 COPB2 HGNC ENSG00000184432 63 0 0 39 6 13.3333 CLSTN2 0 genome.wustl.edu 37 3 140281687 140281687 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 140281687 140281687 A G SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known silent c.2247 p.L749 0.282 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 134 0 0 78 9 10.3448 SPSB4 0 genome.wustl.edu 37 3 140785515 140785515 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 140785515 140785515 T C SNP SPSB4 ENST00000310546 human ensembl 74_37 +1 known missense c.569 p.F190S 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C - no_errors SPSB4 HGNC ENSG00000175093 56 0 0 36 3 7.69231 XRN1 0 genome.wustl.edu 37 3 142102233 142102233 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 142102233 142102233 C T SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.2525 p.R842H 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 119 0 0 71 36 33.6449 PCOLCE2 0 genome.wustl.edu 37 3 142567212 142567212 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 142567212 142567212 T C SNP PCOLCE2 ENST00000295992 human ensembl 74_37 -1 known missense c.295 p.N99D 0.789 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Netrin_module_non-TIMP,superfamily_CUB_dom,superfamily_TIMP-like_OB-fold,smart_CUB_dom,smart_Netrin_module_non-TIMP,pfscan_CUB_dom,pfscan_Netrin_domain - no_errors PCOLCE2 HGNC ENSG00000163710 185 0 0 107 6 5.30973 PAQR9 0 genome.wustl.edu 37 3 142681070 142681070 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 142681070 142681070 C T SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known missense c.1109 p.S370N 0.000 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 305 0 0 218 15 6.43777 PAQR9 0 genome.wustl.edu 37 3 142681213 142681213 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 142681213 142681213 G A SNP PAQR9 ENST00000340634 human ensembl 74_37 -1 known silent c.966 p.I322 1.000 NULL pfam_HlyIII-related - no_errors PAQR9 HGNC ENSG00000188582 217 0 0 98 51 34.2282 SLC6A6 0 genome.wustl.edu 37 3 14487330 14487330 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 14487330 14487330 G A SNP SLC6A6 ENST00000360861 human ensembl 74_37 +1 known missense c.335 p.C112Y 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_taurine - no_errors SLC6A6 HGNC ENSG00000131389 161 0 0 80 41 33.8843 PLSCR5 0 genome.wustl.edu 37 3 146322995 146322995 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 146322995 146322995 G T SNP PLSCR5 ENST00000443512 human ensembl 74_37 -1 known missense c.5 p.A2D 1.000 NULL pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR5 HGNC ENSG00000231213 60 0 0 29 9 23.6842 ZIC1 0 genome.wustl.edu 37 3 147128402 147128402 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 147128402 147128402 C T SNP ZIC1 ENST00000282928 human ensembl 74_37 +1 known missense c.503 p.S168L 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZIC1 HGNC ENSG00000152977 60 0 0 17 16 48.4848 HPS3 0 genome.wustl.edu 37 3 148880506 148880506 + Silent SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 148880506 148880506 T A SNP HPS3 ENST00000296051 human ensembl 74_37 +1 known silent c.2322 p.I774 0.229 pirsf_HPS3 pirsf_HPS3 - no_errors HPS3 HGNC ENSG00000163755 257 0 0 152 13 7.87879 IGSF10 0 genome.wustl.edu 37 3 151161483 151161483 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 151161483 151161483 C T SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known missense c.5252 p.R1751H 0.001 pfam_Ig_I-set,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 136 0 0 58 19 24.6753 ZFYVE20 0 genome.wustl.edu 37 3 15124104 15124104 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 15124104 15124104 T C SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.610 p.S204G 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 45 0 0 21 12 36.3636 DHX36 0 genome.wustl.edu 37 3 154002694 154002694 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 154002694 154002694 A G SNP DHX36 ENST00000496811 human ensembl 74_37 -1 known missense c.2114 p.M705T 1.000 pfam_Helicase-assoc_dom,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX36 HGNC ENSG00000174953 202 0 0 87 38 30.4 PLCH1 0 genome.wustl.edu 37 3 155199765 155199765 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 155199765 155199765 G A SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.4074 p.S1358 0.652 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 124 0 0 75 8 9.63855 PLCH1 0 genome.wustl.edu 37 3 155200765 155200765 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 155200765 155200765 A G SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known missense c.3074 p.L1025S 0.005 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 198 0 0 123 13 9.55882 SLC33A1 0 genome.wustl.edu 37 3 155571075 155571075 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 155571075 155571075 C T SNP SLC33A1 ENST00000359479 human ensembl 74_37 -1 known missense c.712 p.A238T 0.977 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 superfamily_MFS_dom_general_subst_transpt,tigrfam_AmpG_permease/AT-1 - no_errors SLC33A1 HGNC ENSG00000169359 98 0 0 47 4 7.84314 CCNL1 0 genome.wustl.edu 37 3 156867305 156867305 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 156867305 156867305 T C SNP CCNL1 ENST00000295926 human ensembl 74_37 -1 known missense c.1102 p.R368G 0.828 pirsf_Cyclin_L pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_L - no_errors CCNL1 HGNC ENSG00000163660 150 1 0.662252 82 38 31.6667 ANKRD28 0 genome.wustl.edu 37 3 15717590 15717590 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 15717590 15717590 G A SNP ANKRD28 ENST00000498713 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ANKRD28 HGNC ENSG00000206560 24 0 0 13 4 23.5294 RFTN1 0 genome.wustl.edu 37 3 16399539 16399539 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 16399539 16399539 A G SNP RFTN1 ENST00000334133 human ensembl 74_37 -1 known missense c.1046 p.L349S 0.638 NULL NULL - no_errors RFTN1 HGNC ENSG00000131378 191 0 0 89 39 30.4688 SI 0 genome.wustl.edu 37 3 164727162 164727162 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 164727162 164727162 A C SNP SI ENST00000264382 human ensembl 74_37 -1 known missense c.4084 p.F1362V 1.000 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors SI HGNC ENSG00000090402 112 0 0 49 22 30.9859 LRRIQ4 0 genome.wustl.edu 37 3 169546691 169546691 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 169546691 169546691 T C SNP LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known missense c.1165 p.Y389H 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 179 0 0 84 39 31.7073 PLD1 0 genome.wustl.edu 37 3 171338199 171338199 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 171338199 171338199 G A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.2705 p.A902V 1.000 smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_PLipase_D/transphosphatidylase pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 135 0 0 67 26 27.957 PLD1 0 genome.wustl.edu 37 3 171392379 171392379 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 171392379 171392379 G T SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known missense c.2140 p.L714I 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 193 0 0 112 14 11.1111 FNDC3B 0 genome.wustl.edu 37 3 171965350 171965350 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 171965350 171965350 C T SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.292 p.R98W 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 351 1 0.284091 168 84 33.3333 FNDC3B 0 genome.wustl.edu 37 3 172003767 172003767 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 172003767 172003767 A G SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.842 p.K281R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 163 0 0 86 32 27.1186 NLGN1 0 genome.wustl.edu 37 3 173996754 173996754 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 173996754 173996754 T C SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known silent c.1083 p.G361 0.948 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 290 0 0 130 61 31.9372 NLGN1 0 genome.wustl.edu 37 3 173998565 173998565 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 173998565 173998565 A G SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known silent c.2064 p.S688 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 221 0 0 123 10 7.5188 NAALADL2 0 genome.wustl.edu 37 3 174951986 174951986 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 174951986 174951986 A G SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.811 p.T271A 1.000 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 105 0 0 57 7 10.9375 NAALADL2 0 genome.wustl.edu 37 3 174974236 174974236 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 174974236 174974236 G A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.856 p.D286N 0.998 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 70 0 0 49 9 15.5172 NAALADL2 0 genome.wustl.edu 37 3 175042056 175042056 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 175042056 175042056 C A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known silent c.1032 p.T344 0.334 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 311 0 0 222 22 9.01639 PIK3CA 0 genome.wustl.edu 37 3 178917659 178917659 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 178917659 178917659 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known silent c.534 p.P178 1.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 154 0 0 97 14 12.6126 PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 131 1 0.757576 78 25 24.2718 DNAJC19 0 genome.wustl.edu 37 3 180703754 180703754 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 180703754 180703754 A G SNP DNAJC19 ENST00000382564 human ensembl 74_37 -1 known silent c.240 p.D80 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC19 HGNC ENSG00000205981 97 0 0 73 4 5.19481 KLHL6 0 genome.wustl.edu 37 3 183209880 183209880 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 183209880 183209880 G A SNP KLHL6 ENST00000341319 human ensembl 74_37 -1 known silent c.1701 p.D567 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 KLHL6 HGNC ENSG00000172578 185 0 0 89 33 27.0492 YEATS2 0 genome.wustl.edu 37 3 183521069 183521069 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 183521069 183521069 A G SNP YEATS2 ENST00000305135 human ensembl 74_37 +1 known silent c.3528 p.A1176 0.037 NULL pfam_YEATS,pfscan_YEATS - no_errors YEATS2 HGNC ENSG00000163872 36 0 0 25 6 19.3548 ABCC5 0 genome.wustl.edu 37 3 183699621 183699621 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 183699621 183699621 G A SNP ABCC5 ENST00000334444 human ensembl 74_37 -1 known silent c.1041 p.C347 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 92 0 0 33 32 49.2308 DVL3 0 genome.wustl.edu 37 3 183881465 183881465 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 183881465 183881465 C T SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.182 p.S61L 1.000 pfam_DIX,smart_DIX,pfscan_DIX pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 231 1 0.431034 101 47 31.7568 PSMD2 0 genome.wustl.edu 37 3 184019395 184019395 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 184019395 184019395 G A SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.428 p.R143Q 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 243 1 0.409836 124 59 32.2404 PSMD2 0 genome.wustl.edu 37 3 184019718 184019718 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 184019718 184019718 T C SNP PSMD2 ENST00000310118 human ensembl 74_37 +1 known missense c.563 p.V188A 1.000 superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 pfam_Proteasome/cyclosome_rpt,superfamily_ARM-type_fold,pirsf_26S_Psome_Rpn1 - no_errors PSMD2 HGNC ENSG00000175166 225 0 0 87 44 33.5878 TMEM41A 0 genome.wustl.edu 37 3 185214708 185214708 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 185214708 185214708 A G SNP TMEM41A ENST00000421852 human ensembl 74_37 -1 known missense c.181 p.Y61H 1.000 NULL pfam_SNARE_assoc - no_errors TMEM41A HGNC ENSG00000163900 22 0 0 9 3 25 C3orf65 0 genome.wustl.edu 37 3 185434524 185434524 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 185434524 185434524 G A SNP C3orf65 ENST00000296270 human ensembl 74_37 +1 known nonsense c.357 p.W119* 0.024 NULL NULL - no_errors C3orf65 HGNC ENSG00000163915 107 0 0 51 34 40 TRA2B 0 genome.wustl.edu 37 3 185655750 185655750 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 185655750 185655750 G A SNP TRA2B ENST00000465245 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRA2B HGNC ENSG00000136527 19 0 0 8 4 33.3333 DGKG 0 genome.wustl.edu 37 3 185867951 185867951 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 185867951 185867951 C T SNP DGKG ENST00000265022 human ensembl 74_37 -1 known silent c.2304 p.A768 0.954 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 DGKG HGNC ENSG00000058866 53 0 0 21 12 36.3636 DNAJB11 0 genome.wustl.edu 37 3 186301745 186301745 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 186301745 186301745 A G SNP DNAJB11 ENST00000265028 human ensembl 74_37 +1 known missense c.832 p.T278A 0.032 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB11 HGNC ENSG00000090520 127 1 0.78125 88 7 7.36842 KNG1 0 genome.wustl.edu 37 3 186459742 186459742 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 186459742 186459742 G A SNP KNG1 ENST00000265023 human ensembl 74_37 +1 known nonsense c.1557 p.W519* 0.070 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat,prints_Kininogen - no_errors KNG1 HGNC ENSG00000113889 105 0 0 54 4 6.89655 LEPREL1 0 genome.wustl.edu 37 3 189711973 189711973 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 189711973 189711973 T C SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.733 p.T245A 0.002 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 122 0 0 69 35 33.6538 CCDC50 0 genome.wustl.edu 37 3 191093027 191093027 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 191093027 191093027 T A SNP CCDC50 ENST00000392456 human ensembl 74_37 +1 known missense c.625 p.S209T 0.000 NULL NULL - no_errors CCDC50 HGNC ENSG00000152492 77 0 0 46 13 22.0339 ATP13A5-AS1 0 genome.wustl.edu 37 3 193025162 193025162 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 193025162 193025162 C T SNP ATP13A5-AS1 ENST00000414634 human ensembl 74_37 +1 known rna NULL NULL 0.434 - - - no_errors ATP13A5-AS1 HGNC ENSG00000236508 85 0 0 32 14 30.4348 GP5 0 genome.wustl.edu 37 3 194117602 194117602 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 194117602 194117602 C T SNP GP5 ENST00000323007 human ensembl 74_37 -1 known silent c.1410 p.A470 0.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP5 HGNC ENSG00000178732 61 0 0 27 15 35.7143 FAM43A 0 genome.wustl.edu 37 3 194407863 194407863 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 194407863 194407863 G A SNP FAM43A ENST00000329759 human ensembl 74_37 +1 known missense c.308 p.G103D 1.000 smart_PTB/PI_dom smart_PTB/PI_dom - no_errors FAM43A HGNC ENSG00000185112 79 0 0 55 21 27.6316 FAM43A 0 genome.wustl.edu 37 3 194408754 194408754 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 194408754 194408754 C T SNP FAM43A ENST00000329759 human ensembl 74_37 +1 known missense c.1199 p.A400V 0.967 NULL smart_PTB/PI_dom - no_errors FAM43A HGNC ENSG00000185112 17 0 0 5 4 44.4444 XXYLT1 0 genome.wustl.edu 37 3 194790661 194790661 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 194790661 194790661 T C SNP XXYLT1 ENST00000310380 human ensembl 74_37 -1 known missense c.965 p.Y322C 1.000 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors XXYLT1 HGNC ENSG00000173950 100 0 0 87 12 12.1212 KCNH8 0 genome.wustl.edu 37 3 19554757 19554757 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 19554757 19554757 A G SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2375 p.K792R 1.000 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 232 0 0 116 62 34.8315 SDHAP1 0 genome.wustl.edu 37 3 195711466 195711466 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 195711466 195711466 G A SNP SDHAP1 ENST00000427841 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SDHAP1 HGNC ENSG00000185485 108 0 0 51 6 10.5263 TFRC 0 genome.wustl.edu 37 3 195798336 195798336 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 195798336 195798336 G A SNP TFRC ENST00000360110 human ensembl 74_37 -1 known silent c.618 p.N206 0.000 NULL pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFRC HGNC ENSG00000072274 249 0 0 126 55 30.3867 RARB 0 genome.wustl.edu 37 3 25637960 25637960 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 25637960 25637960 A G SNP RARB ENST00000404969 human ensembl 74_37 +1 known silent c.1221 p.P407 0.140 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,prints_Nuc_orph_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_Retinoic_acid_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Nuc_orph_rcpt,prints_Retinoid-X_rcpt/HNF4 - no_errors RARB HGNC ENSG00000077092 263 0 0 133 46 25.6983 TOP2B 0 genome.wustl.edu 37 3 25665877 25665877 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 25665877 25665877 A G SNP TOP2B ENST00000264331 human ensembl 74_37 -1 known silent c.2406 p.I802 0.993 pfam_Topo_IIA_A/C,superfamily_Topo_IIA_like_dom,smart_Topo_IIA_A/C pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2B HGNC ENSG00000077097 182 0 0 113 10 8.13008 OXSM 0 genome.wustl.edu 37 3 25835717 25835717 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 25835717 25835717 C T SNP OXSM ENST00000280701 human ensembl 74_37 +1 known missense c.1112 p.A371V 0.100 pfam_Ketoacyl_synth_C,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 pfam_Ketoacyl_synth_N,pfam_Ketoacyl_synth_C,pfam_Thiolase_N,superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom,tigrfam_3-oxoacyl-ACP_synth-2 - no_errors OXSM HGNC ENSG00000151093 145 0 0 84 6 6.66667 LRRC3B 0 genome.wustl.edu 37 3 26751767 26751767 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 26751767 26751767 A G SNP LRRC3B ENST00000396641 human ensembl 74_37 +1 known missense c.604 p.T202A 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3B HGNC ENSG00000179796 59 0 0 30 12 28.5714 SLC4A7 0 genome.wustl.edu 37 3 27444675 27444675 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 27444675 27444675 T A SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.2276 p.Y759F 1.000 pfam_HCO3_transpt_C,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 170 0 0 117 12 9.30233 SLC4A7 0 genome.wustl.edu 37 3 27472885 27472885 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 27472885 27472885 T C SNP SLC4A7 ENST00000454389 human ensembl 74_37 -1 known missense c.1054 p.I352V 0.958 pfam_Band3_cytoplasmic_dom 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 356 0 0 204 14 6.42202 ZCWPW2 0 genome.wustl.edu 37 3 28562525 28562525 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 28562525 28562525 T C SNP ZCWPW2 ENST00000383768 human ensembl 74_37 +1 known missense c.827 p.M276T 1.000 NULL pfam_Znf_CW,pfam_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_CW - no_errors ZCWPW2 HGNC ENSG00000206559 79 0 0 37 17 31.4815 CRBN 0 genome.wustl.edu 37 3 3209403 3209403 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 3209403 3209403 G A SNP CRBN ENST00000231948 human ensembl 74_37 -1 known missense c.602 p.S201F 1.000 pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N - no_errors CRBN HGNC ENSG00000113851 264 0 0 154 57 27.0142 TRIM71 0 genome.wustl.edu 37 3 32860312 32860312 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 32860312 32860312 C T SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known missense c.740 p.A247V 0.935 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 85 0 0 27 13 32.5 TRIM71 0 genome.wustl.edu 37 3 32932496 32932496 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 32932496 32932496 T C SNP TRIM71 ENST00000383763 human ensembl 74_37 +1 known silent c.1800 p.G600 0.503 pfscan_NHL_repeat_subgr pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM71 HGNC ENSG00000206557 94 0 0 43 21 32.8125 ARPP21 0 genome.wustl.edu 37 3 35835235 35835235 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 35835235 35835235 T C SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.2227 p.Y743H 0.996 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 138 0 0 69 11 13.75 GOLGA4 0 genome.wustl.edu 37 3 37368396 37368396 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 37368396 37368396 T C SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known silent c.5019 p.H1673 0.002 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 318 0 0 132 55 29.4118 EXOG 0 genome.wustl.edu 37 3 38565616 38565616 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 38565616 38565616 C T SNP EXOG ENST00000287675 human ensembl 74_37 +1 known silent c.870 p.I290 0.066 NULL pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A - no_errors EXOG HGNC ENSG00000157036 408 0 0 188 88 31.8841 SCN10A 0 genome.wustl.edu 37 3 38781019 38781019 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 38781019 38781019 C T SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2267 p.R756Q 1.000 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 91 0 0 42 22 34.375 TTC21A 0 genome.wustl.edu 37 3 39170435 39170435 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 39170435 39170435 C T SNP TTC21A ENST00000466875 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors TTC21A HGNC ENSG00000168026 120 0 0 43 22 33.8462 TTC21A 0 genome.wustl.edu 37 3 39179775 39179775 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 39179775 39179775 T C SNP TTC21A ENST00000301819 human ensembl 74_37 +1 known silent c.3717 p.Y1239 0.961 pfscan_TPR-contain_dom pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC21A HGNC ENSG00000168026 78 0 0 40 19 32.2034 XIRP1 0 genome.wustl.edu 37 3 39228088 39228088 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 39228088 39228088 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.2849 p.A950V 0.282 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 134 0 0 83 5 5.68182 XIRP1 0 genome.wustl.edu 37 3 39230771 39230771 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 39230771 39230771 G A SNP XIRP1 ENST00000340369 human ensembl 74_37 -1 known missense c.166 p.R56C 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP1 HGNC ENSG00000168334 91 0 0 44 16 26.6667 MYRIP 0 genome.wustl.edu 37 3 40204292 40204292 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 40204292 40204292 C T SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known nonsense c.541 p.Q181* 1.000 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 141 0 0 51 22 30.137 MYRIP 0 genome.wustl.edu 37 3 40211476 40211476 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 40211476 40211476 A C SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.765 p.Q255H 0.000 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 156 1 0.636943 74 36 32.7273 ZNF662 0 genome.wustl.edu 37 3 42950328 42950328 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 42950328 42950328 G A SNP ZNF662 ENST00000328199 human ensembl 74_37 +1 known silent c.258 p.E86 0.918 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 ZNF662 HGNC ENSG00000182983 329 0 0 188 86 31.3869 SNRK 0 genome.wustl.edu 37 3 43390009 43390009 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 43390009 43390009 T C SNP SNRK ENST00000296088 human ensembl 74_37 +1 known missense c.2258 p.L753P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SNRK HGNC ENSG00000163788 62 0 0 32 12 27.2727 SETMAR 0 genome.wustl.edu 37 3 4355148 4355148 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 4355148 4355148 A G SNP SETMAR ENST00000358065 human ensembl 74_37 +1 known silent c.723 p.V241 0.996 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Transposase_1,pfam_SET_dom,pfam_Pre-SET_dom,pfam_Transposase_Tc1-like,pfam_Transposase_14,superfamily_Homeodomain-like,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETMAR HGNC ENSG00000170364 156 1 0.636943 83 12 12.6316 ZNF197 0 genome.wustl.edu 37 3 44685542 44685542 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 44685542 44685542 A G SNP ZNF197 ENST00000344387 human ensembl 74_37 +1 known missense c.2920 p.T974A 0.002 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 135 0 0 60 30 33.3333 ZNF35 0 genome.wustl.edu 37 3 44700874 44700874 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 44700874 44700874 G A SNP ZNF35 ENST00000396056 human ensembl 74_37 +1 known missense c.1019 p.G340E 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF35 HGNC ENSG00000169981 89 0 0 44 30 40.5405 KIAA1143 0 genome.wustl.edu 37 3 44795767 44795767 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 44795767 44795767 A G SNP KIAA1143 ENST00000296121 human ensembl 74_37 -1 known missense c.202 p.S68P 0.983 NULL NULL - no_errors KIAA1143 HGNC ENSG00000163807 182 0 0 119 17 12.5 KIF15 0 genome.wustl.edu 37 3 44816918 44816918 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 44816918 44816918 G A SNP KIF15 ENST00000438321 human ensembl 74_37 +1 known nonsense c.192 p.W64* 0.995 NULL NULL - no_errors KIF15 HGNC ENSG00000163808 118 0 0 61 13 17.5676 ITPR1 0 genome.wustl.edu 37 3 4715002 4715002 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 4715002 4715002 A G SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.2342 p.Q781R 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 163 0 0 96 44 31.4286 PTPN23 0 genome.wustl.edu 37 3 47447981 47447981 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 47447981 47447981 A G SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known missense c.638 p.Y213C 1.000 pfam_BRO1_dom,pfscan_BRO1_dom 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 93 0 0 73 8 9.87654 SCAP 0 genome.wustl.edu 37 3 47461115 47461115 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 47461115 47461115 G A SNP SCAP ENST00000265565 human ensembl 74_37 -1 known missense c.1643 p.T548M 0.999 NULL pfam_Patched,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_SSD,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SCAP HGNC ENSG00000114650 151 0 0 68 39 36.4486 ELP6 0 genome.wustl.edu 37 3 47537573 47537573 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 47537573 47537573 G A SNP ELP6 ENST00000296149 human ensembl 74_37 -1 known missense c.787 p.P263S 1.000 NULL pfam_UPF0405 - no_errors ELP6 HGNC ENSG00000163832 116 0 0 57 23 28.75 DHX30 0 genome.wustl.edu 37 3 47888784 47888784 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 47888784 47888784 G A SNP DHX30 ENST00000445061 human ensembl 74_37 +1 known missense c.1951 p.D651N 0.989 superfamily_P-loop_NTPase 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 173 0 0 100 52 34.2105 ATRIP 0 genome.wustl.edu 37 3 48506470 48506470 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 48506470 48506470 A G SNP ATRIP ENST00000320211 human ensembl 74_37 +1 known missense c.2296 p.T766A 0.920 NULL NULL - no_errors ATRIP HGNC ENSG00000164053 141 1 0.704225 101 9 8.18182 SHISA5 0 genome.wustl.edu 37 3 48510800 48510800 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 48510800 48510800 G T SNP SHISA5 ENST00000296444 human ensembl 74_37 -1 known silent c.603 p.A201 1.000 NULL NULL - no_errors SHISA5 HGNC ENSG00000164054 255 1 0.390625 178 18 9.18367 UQCRC1 0 genome.wustl.edu 37 3 48638787 48638787 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 48638787 48638787 C T SNP UQCRC1 ENST00000203407 human ensembl 74_37 -1 known missense c.820 p.E274K 1.000 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors UQCRC1 HGNC ENSG00000010256 49 0 0 32 13 28.8889 CELSR3 0 genome.wustl.edu 37 3 48692534 48692534 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 48692534 48692534 C T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.4931 p.G1644D 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 103 0 0 48 21 30.4348 CELSR3 0 genome.wustl.edu 37 3 48699322 48699322 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 48699322 48699322 G T SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.746 p.P249Q 0.978 NULL 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 176 0 0 79 41 34.1667 QRICH1 0 genome.wustl.edu 37 3 49084644 49084644 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49084644 49084644 C T SNP QRICH1 ENST00000357496 human ensembl 74_37 -1 known silent c.1374 p.Q458 0.994 NULL pfam_DUF3504,superfamily_DEATH-like_dom - no_errors QRICH1 HGNC ENSG00000198218 163 0 0 89 33 27.0492 QARS 0 genome.wustl.edu 37 3 49137466 49137466 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49137466 49137466 A G SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.1223 p.M408T 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Gln-tRNA-synth pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 195 0 0 94 38 28.7879 USP19 0 genome.wustl.edu 37 3 49149178 49149178 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49149178 49149178 C A SNP USP19 ENST00000398888 human ensembl 74_37 -1 known missense c.2663 p.G888V 0.996 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 142 1 0.699301 71 28 28.2828 USP19 0 genome.wustl.edu 37 3 49153556 49153556 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49153556 49153556 C T SNP USP19 ENST00000398888 human ensembl 74_37 -1 known silent c.1092 p.T364 0.371 superfamily_HSP20-like_chaperone,pfscan_CS_dom pfam_Peptidase_C19/C67,pfam_Znf_MYND,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom,pfscan_Znf_MYND,pfscan_Peptidase_C19/C67 - no_errors USP19 HGNC ENSG00000172046 77 0 0 34 11 24.4444 USP4 0 genome.wustl.edu 37 3 49362429 49362429 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49362429 49362429 C T SNP USP4 ENST00000265560 human ensembl 74_37 -1 known silent c.531 p.A177 0.001 NULL pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP4 HGNC ENSG00000114316 274 0 0 117 60 33.8983 DAG1 0 genome.wustl.edu 37 3 49570262 49570262 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49570262 49570262 T C SNP DAG1 ENST00000308775 human ensembl 74_37 +1 known missense c.2318 p.I773T 1.000 pfam_DAG1 pfam_DAG1,superfamily_Alpha-dystroglycan_domain_2,superfamily_Cadherin-like,smart_Cadg - no_errors DAG1 HGNC ENSG00000173402 64 0 0 46 5 9.80392 BSN 0 genome.wustl.edu 37 3 49690049 49690049 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49690049 49690049 G T SNP BSN ENST00000296452 human ensembl 74_37 +1 known missense c.3060 p.K1020N 1.000 NULL pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD - no_errors BSN HGNC ENSG00000164061 116 0 0 43 26 37.6812 IP6K1 0 genome.wustl.edu 37 3 49765012 49765012 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49765012 49765012 C T SNP IP6K1 ENST00000321599 human ensembl 74_37 -1 known missense c.869 p.R290H 1.000 pfam_IPK pfam_IPK - no_errors IP6K1 HGNC ENSG00000176095 129 1 0.769231 71 34 32.381 RBM6 0 genome.wustl.edu 37 3 50095840 50095840 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 50095840 50095840 A G SNP RBM6 ENST00000266022 human ensembl 74_37 +1 known missense c.1975 p.M659V 1.000 smart_RRM_dom pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 572 1 0.17452 305 124 28.9044 GNAI2 0 genome.wustl.edu 37 3 50293715 50293715 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 50293715 50293715 G A SNP GNAI2 ENST00000313601 human ensembl 74_37 +1 known missense c.556 p.V186M 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I,prints_Fungi_Gprotein_alpha - no_errors GNAI2 HGNC ENSG00000114353 110 0 0 48 26 35.1351 RASSF1 0 genome.wustl.edu 37 3 50368119 50368119 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 50368119 50368119 G A SNP RASSF1 ENST00000357043 human ensembl 74_37 -1 known missense c.928 p.R310C 1.000 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 129 0 0 61 27 30.6818 PCBP4 0 genome.wustl.edu 37 3 51993259 51993259 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 51993259 51993259 G T SNP PCBP4 ENST00000395014 human ensembl 74_37 -1 known missense c.749 p.P250H 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP4 HGNC ENSG00000090097 84 0 0 75 6 7.40741 TLR9 0 genome.wustl.edu 37 3 52257500 52257500 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 52257500 52257500 C T SNP TLR9 ENST00000597542 human ensembl 74_37 -1 known missense c.904 p.D302N 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR9 HGNC ENSG00000239732 72 0 0 47 9 16.0714 DNAH1 0 genome.wustl.edu 37 3 52429688 52429688 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 52429688 52429688 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.11253 p.P3751 0.724 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 36 0 0 12 9 42.8571 NISCH 0 genome.wustl.edu 37 3 52522235 52522235 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 52522235 52522235 G A SNP NISCH ENST00000345716 human ensembl 74_37 +1 known nonsense c.2727 p.W909* 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 120 0 0 84 7 7.69231 STAB1 0 genome.wustl.edu 37 3 52540711 52540711 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 52540711 52540711 C T SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.1834 p.R612C 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain 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 32 0 0 13 6 31.5789 STAB1 0 genome.wustl.edu 37 3 52556376 52556376 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 52556376 52556376 T C SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6496 p.Y2166H 1.000 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 124 0 0 85 9 9.57447 CACNA1D 0 genome.wustl.edu 37 3 53766111 53766111 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 53766111 53766111 T C SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known splice_site c.2533+2 e19+2 1.000 - - - no_errors CACNA1D HGNC ENSG00000157388 110 0 0 73 5 6.41026 CACNA1D 0 genome.wustl.edu 37 3 53783469 53783469 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 53783469 53783469 T C SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known silent c.3549 p.Y1183 1.000 prints_VDCCAlpha1 pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 136 0 0 59 33 35.8696 CACNA1D 0 genome.wustl.edu 37 3 53844288 53844288 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 53844288 53844288 G A SNP CACNA1D ENST00000288139 human ensembl 74_37 +1 known missense c.6215 p.S2072N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_LVDCC_a1dsu - no_errors CACNA1D HGNC ENSG00000157388 154 0 0 107 9 7.75862 ACTR8 0 genome.wustl.edu 37 3 53904097 53904097 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 53904097 53904097 T C SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known missense c.1643 p.Q548R 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 181 0 0 142 8 5.33333 LRTM1 0 genome.wustl.edu 37 3 54958882 54958882 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 54958882 54958882 T C SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.368 p.Q123R 0.002 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 133 0 0 49 31 38.75 APPL1 0 genome.wustl.edu 37 3 57294720 57294720 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 57294720 57294720 T C SNP APPL1 ENST00000288266 human ensembl 74_37 +1 known missense c.1760 p.V587A 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 434 0 0 268 94 25.9669 FLNB 0 genome.wustl.edu 37 3 57994331 57994331 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 57994331 57994331 T C SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.40 p.W14R 1.000 superfamily_CH-domain 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 FLNB HGNC ENSG00000136068 37 0 0 29 5 14.7059 ABHD6 0 genome.wustl.edu 37 3 58279454 58279454 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 58279454 58279454 T C SNP ABHD6 ENST00000295962 human ensembl 74_37 +1 known missense c.976 p.S326P 0.023 NULL pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 111 0 0 63 28 30.7692 KCTD6 0 genome.wustl.edu 37 3 58484481 58484481 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 58484481 58484481 A G SNP KCTD6 ENST00000479470 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors KCTD6 HGNC ENSG00000168301 190 0 0 122 56 31.4607 MAGI1 0 genome.wustl.edu 37 3 65415576 65415576 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 65415576 65415576 T G SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.1786 p.S596R 1.000 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 151 0 0 64 35 35.3535 MAGI1 0 genome.wustl.edu 37 3 66023680 66023680 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 66023680 66023680 C A SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.304 p.V102F 1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Guanylate_kin-like pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 340 0 0 196 30 13.2743 LRIG1 0 genome.wustl.edu 37 3 66436422 66436422 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 66436422 66436422 G A SNP LRIG1 ENST00000273261 human ensembl 74_37 -1 known missense c.1772 p.A591V 1.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom 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 165 0 0 126 7 5.26316 SUCLG2 0 genome.wustl.edu 37 3 67568750 67568750 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 67568750 67568750 T C SNP SUCLG2 ENST00000307227 human ensembl 74_37 -1 known missense c.581 p.D194G 1.000 pfam_ATP-grasp_succ-CoA_synth-type,tigrfam_Succ_CoA_synthase_bsu pfam_ATP-grasp_succ-CoA_synth-type,pfam_CoA_ligase,superfamily_Succinyl-CoA_synth-like,tigrfam_Succ_CoA_synthase_bsu - no_errors SUCLG2 HGNC ENSG00000172340 132 0 0 67 24 26.3736 FOXP1 0 genome.wustl.edu 37 3 71247436 71247436 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 71247436 71247436 G A SNP FOXP1 ENST00000318789 human ensembl 74_37 -1 known missense c.97 p.R33W 0.999 NULL pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head - no_errors FOXP1 HGNC ENSG00000114861 375 0 0 195 71 26.6917 PPP4R2 0 genome.wustl.edu 37 3 73108188 73108188 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 73108188 73108188 T C SNP PPP4R2 ENST00000356692 human ensembl 74_37 +1 known silent c.288 p.G96 0.998 pfam_PPP4R2 pfam_PPP4R2 - no_errors PPP4R2 HGNC ENSG00000163605 49 0 0 22 10 31.25 CNTN3 0 genome.wustl.edu 37 3 74383946 74383946 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 74383946 74383946 A G SNP CNTN3 ENST00000263665 human ensembl 74_37 -1 known silent c.1608 p.Y536 0.650 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN3 HGNC ENSG00000113805 249 0 0 128 50 28.0899 ROBO2 0 genome.wustl.edu 37 3 77623872 77623872 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 77623872 77623872 A G SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.2194 p.T732A 0.998 superfamily_Fibronectin_type3 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 ROBO2 HGNC ENSG00000185008 52 0 0 25 8 24.2424 GBE1 0 genome.wustl.edu 37 3 81548278 81548278 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 81548278 81548278 G A SNP GBE1 ENST00000429644 human ensembl 74_37 -1 known missense c.2035 p.R679C 0.774 pfam_A-amylase_b_C pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 27 0 0 17 5 22.7273 ZNF654 0 genome.wustl.edu 37 3 88189082 88189082 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 88189082 88189082 C T SNP ZNF654 ENST00000309495 human ensembl 74_37 +1 known missense c.622 p.R208W 0.481 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF654 HGNC ENSG00000175105 58 0 0 29 6 17.1429 RAD18 0 genome.wustl.edu 37 3 8977591 8977591 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 8977591 8977591 A G SNP RAD18 ENST00000264926 human ensembl 74_37 -1 known missense c.853 p.Y285H 1.000 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 205 0 0 145 11 7.05128 SRGAP3 0 genome.wustl.edu 37 3 9027593 9027593 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 9027593 9027593 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known silent c.2910 p.T970 0.431 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 99 0 0 68 21 23.5955 EPHA6 0 genome.wustl.edu 37 3 96706732 96706732 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 96706732 96706732 C T SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known missense c.1009 p.R337C 1.000 NULL 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,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 269 0 0 106 46 30.2632 DCBLD2 0 genome.wustl.edu 37 3 98538224 98538224 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 98538224 98538224 G A SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known silent c.909 p.I303 0.002 superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 83 0 0 37 26 41.2698 DCBLD2 0 genome.wustl.edu 37 3 98541118 98541118 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 98541118 98541118 T C SNP DCBLD2 ENST00000326857 human ensembl 74_37 -1 known missense c.784 p.I262V 1.000 pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB_dom,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB_dom,superfamily_LCCL,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD2 HGNC ENSG00000057019 34 0 0 23 5 17.8571 FILIP1L 0 genome.wustl.edu 37 3 99567788 99567788 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 99567788 99567788 A G SNP FILIP1L ENST00000354552 human ensembl 74_37 -1 known missense c.2732 p.V911A 0.976 NULL pfam_Cortactin-binding_p2_N,superfamily_Prefoldin,prints_Tropomyosin - no_errors FILIP1L HGNC ENSG00000168386 392 1 0.254453 172 75 30.3644 CMSS1 0 genome.wustl.edu 37 3 99881157 99881157 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 99881157 99881157 C T SNP CMSS1 ENST00000421999 human ensembl 74_37 +1 known missense c.236 p.T79I 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase - no_errors CMSS1 HGNC ENSG00000184220 112 0 0 61 24 28.2353 TRMT10A 0 genome.wustl.edu 37 4 100477370 100477370 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 100477370 100477370 A G SNP TRMT10A ENST00000273962 human ensembl 74_37 -1 known missense c.428 p.L143S 1.000 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 71 0 0 45 15 25 EGF 0 genome.wustl.edu 37 4 110901129 110901129 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 110901129 110901129 T C SNP EGF ENST00000265171 human ensembl 74_37 +1 known silent c.2055 p.G685 0.998 pirsf_Pro-epidermal_GF,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt 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 270 0 0 171 31 15.3465 ALPK1 0 genome.wustl.edu 37 4 113353418 113353418 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 113353418 113353418 C T SNP ALPK1 ENST00000177648 human ensembl 74_37 +1 known silent c.2715 p.C905 0.035 NULL pfam_MHCK_EF2_kinase,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors ALPK1 HGNC ENSG00000073331 249 1 0.4 159 14 8.09249 NEUROG2 0 genome.wustl.edu 37 4 113436383 113436383 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 113436383 113436383 T C SNP NEUROG2 ENST00000313341 human ensembl 74_37 -1 known silent c.249 p.V83 0.001 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG2 HGNC ENSG00000178403 32 0 0 26 5 16.129 ANK2 0 genome.wustl.edu 37 4 114275746 114275746 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 114275746 114275746 G T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.5972 p.R1991L 0.975 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 307 0 0 155 67 30.1802 ANK2 0 genome.wustl.edu 37 4 114277471 114277471 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 114277471 114277471 A G SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known missense c.7697 p.H2566R 0.325 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 266 0 0 145 56 27.8607 ANK2 0 genome.wustl.edu 37 4 114277794 114277794 + Nonsense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 114277794 114277794 A T SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known nonsense c.8020 p.K2674* 0.002 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 176 0 0 82 34 29.3103 USP53 0 genome.wustl.edu 37 4 120192602 120192602 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 120192602 120192602 A G SNP USP53 ENST00000274030 human ensembl 74_37 +1 known silent c.1587 p.A529 0.901 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 221 0 0 76 36 32.1429 CTBP1 0 genome.wustl.edu 37 4 1222118 1222118 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 1222118 1222118 G A SNP CTBP1 ENST00000290921 human ensembl 74_37 -1 known missense c.209 p.A70V 1.000 pfam_D-isomer_2_OHA_DH_cat_dom pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors CTBP1 HGNC ENSG00000159692 147 0 0 104 22 17.4603 BBS7 0 genome.wustl.edu 37 4 122749572 122749572 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 122749572 122749572 T C SNP BBS7 ENST00000264499 human ensembl 74_37 -1 known silent c.1875 p.L625 1.000 pirsf_Bardet-Biedl_syndrome_7_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_7_prot - no_errors BBS7 HGNC ENSG00000138686 189 0 0 155 28 15.3005 KIAA1109 0 genome.wustl.edu 37 4 123095782 123095782 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 123095782 123095782 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.268 p.Y90H 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 103 0 0 55 25 31.25 KIAA1109 0 genome.wustl.edu 37 4 123128729 123128729 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 123128729 123128729 T C SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.1688 p.I563T 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 126 0 0 103 6 5.50459 KIAA1109 0 genome.wustl.edu 37 4 123193524 123193524 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 123193524 123193524 A T SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.8410 p.I2804F 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 96 0 0 42 7 14.2857 KIAA1109 0 genome.wustl.edu 37 4 123202719 123202719 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 123202719 123202719 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.8827 p.T2943A 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 98 0 0 55 34 38.2022 KIAA1109 0 genome.wustl.edu 37 4 123271136 123271136 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 123271136 123271136 A G SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.13756 p.T4586A 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 327 0 0 206 29 12.3404 FAT4 0 genome.wustl.edu 37 4 126371136 126371136 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 126371136 126371136 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.8965 p.F2989L 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 168 0 0 104 6 5.45455 HSPA4L 0 genome.wustl.edu 37 4 128732617 128732617 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 128732617 128732617 T C SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known silent c.1497 p.F499 0.990 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 111 0 0 53 36 40.4494 PLK4 0 genome.wustl.edu 37 4 128819592 128819592 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 128819592 128819592 A G SNP PLK4 ENST00000270861 human ensembl 74_37 +1 known splice_site c.2811-2 e16-2 1.000 - - - no_errors PLK4 HGNC ENSG00000142731 61 0 0 36 18 33.3333 PCDH10 0 genome.wustl.edu 37 4 134071447 134071447 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 134071447 134071447 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.152 p.R51H 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 215 0 0 88 44 33.3333 PCDH10 0 genome.wustl.edu 37 4 134072100 134072100 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 134072100 134072100 G A SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known missense c.805 p.V269M 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 209 0 0 88 32 26.6667 PCDH10 0 genome.wustl.edu 37 4 134084157 134084157 + Silent SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 134084157 134084157 T G SNP PCDH10 ENST00000264360 human ensembl 74_37 +1 known silent c.2823 p.T941 0.025 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH10 HGNC ENSG00000138650 202 1 0.492611 97 47 32.6389 UVSSA 0 genome.wustl.edu 37 4 1348909 1348909 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 1348909 1348909 T A SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1052 p.F351Y 1.000 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 52 0 0 20 13 39.3939 NKX3-2 0 genome.wustl.edu 37 4 13545707 13545707 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 13545707 13545707 C T SNP NKX3-2 ENST00000382438 human ensembl 74_37 -1 known missense c.332 p.R111Q 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 24 0 0 6 4 40 BOD1L1 0 genome.wustl.edu 37 4 13602222 13602222 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 13602222 13602222 G A SNP BOD1L1 ENST00000040738 human ensembl 74_37 -1 known missense c.6302 p.T2101I 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 73 0 0 14 14 50 UVSSA 0 genome.wustl.edu 37 4 1374770 1374770 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 1374770 1374770 C T SNP UVSSA ENST00000389851 human ensembl 74_37 +1 known missense c.1855 p.R619C 0.169 NULL pfam_DUF2043,superfamily_ENTH_VHS - no_errors UVSSA HGNC ENSG00000163945 87 0 0 47 6 11.3208 PCDH18 0 genome.wustl.edu 37 4 138442824 138442824 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 138442824 138442824 T C SNP PCDH18 ENST00000344876 human ensembl 74_37 -1 known missense c.2767 p.R923G 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH18 HGNC ENSG00000189184 336 0 0 176 62 26.0504 CCRN4L 0 genome.wustl.edu 37 4 139964348 139964348 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 139964348 139964348 C T SNP CCRN4L ENST00000280614 human ensembl 74_37 +1 known missense c.311 p.P104L 0.996 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors CCRN4L HGNC ENSG00000151014 190 0 0 77 29 27.3585 MGARP 0 genome.wustl.edu 37 4 140189882 140189882 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 140189882 140189882 G C SNP MGARP ENST00000398955 human ensembl 74_37 -1 known missense c.224 p.T75R 0.020 NULL NULL - no_errors MGARP HGNC ENSG00000137463 213 0 0 97 40 29.1971 MAML3 0 genome.wustl.edu 37 4 140640863 140640863 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 140640863 140640863 C T SNP MAML3 ENST00000509479 human ensembl 74_37 -1 known missense c.3031 p.V1011M 0.708 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML3 HGNC ENSG00000196782 39 0 0 17 10 37.037 CLGN 0 genome.wustl.edu 37 4 141317347 141317347 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 141317347 141317347 T C SNP CLGN ENST00000325617 human ensembl 74_37 -1 known silent c.897 p.E299 0.999 pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 327 0 0 219 26 10.6122 CLGN 0 genome.wustl.edu 37 4 141323176 141323176 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 141323176 141323176 T C SNP CLGN ENST00000325617 human ensembl 74_37 -1 known missense c.464 p.Y155C 1.000 pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CLGN HGNC ENSG00000153132 73 0 0 43 16 27.1186 IL15 0 genome.wustl.edu 37 4 142651089 142651089 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 142651089 142651089 A G SNP IL15 ENST00000296545 human ensembl 74_37 +1 known silent c.330 p.T110 0.000 pfam_IL-15/IL-21_fam pfam_IL-15/IL-21_fam,prints_IL-15_mml,prints_IL-15 - no_errors IL15 HGNC ENSG00000164136 201 0 0 125 14 10.0719 USP38 0 genome.wustl.edu 37 4 144135635 144135635 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 144135635 144135635 A G SNP USP38 ENST00000307017 human ensembl 74_37 +1 known missense c.2506 p.K836E 0.560 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP38 HGNC ENSG00000170185 170 0 0 63 26 29.2135 TTC29 0 genome.wustl.edu 37 4 147824752 147824752 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 147824752 147824752 C T SNP TTC29 ENST00000398886 human ensembl 74_37 -1 known missense c.608 p.C203Y 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC29 HGNC ENSG00000137473 56 0 0 23 12 34.2857 FHDC1 0 genome.wustl.edu 37 4 153886120 153886120 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 153886120 153886120 A G SNP FHDC1 ENST00000260008 human ensembl 74_37 +1 known missense c.1093 p.T365A 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,smart_FH2_Formin - no_errors FHDC1 HGNC ENSG00000137460 143 0 0 88 21 19.2661 DCHS2 0 genome.wustl.edu 37 4 155180907 155180907 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 155180907 155180907 T C SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.5214 p.G1738 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 95 0 0 50 31 38.2716 DCHS2 0 genome.wustl.edu 37 4 155219676 155219676 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 155219676 155219676 A G SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.4425 p.S1475 0.837 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 323 0 0 139 58 29.4416 MAP9 0 genome.wustl.edu 37 4 156289783 156289783 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 156289783 156289783 T C SNP MAP9 ENST00000311277 human ensembl 74_37 -1 known silent c.663 p.Q221 0.000 NULL NULL - no_errors MAP9 HGNC ENSG00000164114 116 0 0 43 18 29.5082 RXFP1 0 genome.wustl.edu 37 4 159568163 159568163 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 159568163 159568163 A G SNP RXFP1 ENST00000307765 human ensembl 74_37 +1 known silent c.1566 p.R522 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_Leu-rich_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_LDrepeatLR_classA_rpt,pfscan_GPCR_Rhodpsn_7TM,prints_Relaxin_rcpt,prints_GPCR_Rhodpsn,prints_Gphrmn_rcpt_fam - no_errors RXFP1 HGNC ENSG00000171509 105 0 0 79 5 5.95238 ETFDH 0 genome.wustl.edu 37 4 159629557 159629557 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 159629557 159629557 C T SNP ETFDH ENST00000511912 human ensembl 74_37 +1 known missense c.1732 p.R578W 1.000 NULL pfam_ETFD_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Pyridine_nuc-diS_OxRdtase_2 - no_errors ETFDH HGNC ENSG00000171503 168 0 0 85 38 30.8943 PPID 0 genome.wustl.edu 37 4 159642617 159642617 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 159642617 159642617 T G SNP PPID ENST00000307720 human ensembl 74_37 -1 known missense c.104 p.E35A 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 89 0 0 52 3 5.45455 C4orf45 0 genome.wustl.edu 37 4 159836467 159836467 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 159836467 159836467 C T SNP C4orf45 ENST00000434826 human ensembl 74_37 -1 known missense c.401 p.R134H 0.875 NULL NULL - no_errors C4orf45 HGNC ENSG00000164123 31 0 0 18 8 30.7692 TAPT1 0 genome.wustl.edu 37 4 16165119 16165119 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 16165119 16165119 G A SNP TAPT1 ENST00000405303 human ensembl 74_37 -1 known nonsense c.1516 p.Q506* 1.000 NULL pfam_Membrane_Tatp1/CMV_rcpt - no_errors TAPT1 HGNC ENSG00000169762 95 0 0 52 26 33.3333 ANXA10 0 genome.wustl.edu 37 4 169013864 169013864 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 169013864 169013864 G A SNP ANXA10 ENST00000359299 human ensembl 74_37 +1 known missense c.13 p.D5N 0.994 prints_AnnexinX pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinX - no_errors ANXA10 HGNC ENSG00000109511 77 0 0 73 6 7.59494 CLCN3 0 genome.wustl.edu 37 4 170611768 170611768 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 170611768 170611768 T C SNP CLCN3 ENST00000347613 human ensembl 74_37 +1 known missense c.694 p.F232L 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,smart_CBS_dom,prints_Cl-channel_volt-gated,prints_Cl_channel-3 - no_errors CLCN3 HGNC ENSG00000109572 142 0 0 65 30 31.5789 HMGB2 0 genome.wustl.edu 37 4 174254362 174254362 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 174254362 174254362 T C SNP HMGB2 ENST00000296503 human ensembl 74_37 -1 known missense c.154 p.M52V 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 HMGB2 HGNC ENSG00000164104 213 0 0 137 15 9.86842 HAND2 0 genome.wustl.edu 37 4 174450023 174450023 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 174450023 174450023 T C SNP HAND2 ENST00000359562 human ensembl 74_37 -1 known missense c.418 p.T140A 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 HAND2 HGNC ENSG00000164107 207 1 0.480769 139 23 14.1975 AGA 0 genome.wustl.edu 37 4 178354503 178354503 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 178354503 178354503 T C SNP AGA ENST00000264595 human ensembl 74_37 -1 known splice_site c.807-2 e8-2 0.996 - - - no_errors AGA HGNC ENSG00000038002 187 0 0 79 46 36.8 TENM3 0 genome.wustl.edu 37 4 183658145 183658145 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 183658145 183658145 C T SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3152 p.A1051V 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 195 1 0.510204 83 39 31.9672 CASP3 0 genome.wustl.edu 37 4 185553055 185553055 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 185553055 185553055 C T SNP CASP3 ENST00000308394 human ensembl 74_37 -1 known missense c.347 p.C116Y 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 270 0 0 181 13 6.70103 SLED1 0 genome.wustl.edu 37 4 185719634 185719634 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 185719634 185719634 T C SNP SLED1 ENST00000506741 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-701P16.1 Clone_based_vega_gene ENSG00000249138 15 0 0 12 6 33.3333 SLC25A4 0 genome.wustl.edu 37 4 186066006 186066006 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 186066006 186066006 T C SNP SLC25A4 ENST00000281456 human ensembl 74_37 +1 known missense c.200 p.F67S 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Aden_trnslctor pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A4 HGNC ENSG00000151729 237 1 0.420168 108 48 30.7692 SNX25 0 genome.wustl.edu 37 4 186283815 186283815 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 186283815 186283815 A G SNP SNX25 ENST00000264694 human ensembl 74_37 +1 known missense c.2392 p.K798E 1.000 pfam_Sorting_nexin_C pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 481 0 0 242 110 31.25 UFSP2 0 genome.wustl.edu 37 4 186324686 186324686 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 186324686 186324686 A G SNP UFSP2 ENST00000264689 human ensembl 74_37 -1 known missense c.1285 p.Y429H 1.000 pfam_Peptidase_C78_UfSP1/2 pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 159 0 0 83 5 5.68182 TLR3 0 genome.wustl.edu 37 4 187004019 187004019 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 187004019 187004019 G A SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known silent c.1179 p.L393 0.739 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 81 0 0 32 17 34.6939 F11 0 genome.wustl.edu 37 4 187192764 187192764 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 187192764 187192764 A G SNP F11 ENST00000403665 human ensembl 74_37 +1 known silent c.57 p.E19 0.841 NULL pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 189 0 0 95 42 30.6569 FAT1 0 genome.wustl.edu 37 4 187628543 187628543 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 187628543 187628543 G A SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.2439 p.V813 0.979 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 380 1 0.262467 249 42 14.433 NAT8L 0 genome.wustl.edu 37 4 2065740 2065740 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 2065740 2065740 A G SNP NAT8L ENST00000423729 human ensembl 74_37 +1 known silent c.795 p.R265 1.000 pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT8L HGNC ENSG00000185818 50 0 0 27 4 12.9032 GPR125 0 genome.wustl.edu 37 4 22415356 22415356 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 22415356 22415356 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known missense c.1891 p.D631N 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 149 0 0 57 32 35.9551 GPR125 0 genome.wustl.edu 37 4 22422524 22422524 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 22422524 22422524 C T SNP GPR125 ENST00000334304 human ensembl 74_37 -1 known silent c.1794 p.S598 0.663 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_GPCR_2_extracellular_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR125 HGNC ENSG00000152990 412 0 0 181 83 31.4394 RBPJ 0 genome.wustl.edu 37 4 26426078 26426078 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 26426078 26426078 G A SNP RBPJ ENST00000342295 human ensembl 74_37 +1 known nonsense c.650 p.W217* 1.000 pfam_Beta-trefoil_DNA-bd_dom,superfamily_Beta-trefoil_DNA-bd_dom pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 223 0 0 104 70 40.2299 PCDH7 0 genome.wustl.edu 37 4 30723194 30723194 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 30723194 30723194 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known silent c.150 p.N50 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 57 0 0 25 12 32.4324 HTT 0 genome.wustl.edu 37 4 3234904 3234904 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 3234904 3234904 G A SNP HTT ENST00000355072 human ensembl 74_37 +1 known silent c.8280 p.A2760 0.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 219 0 0 118 44 27.1605 RGS12 0 genome.wustl.edu 37 4 3424186 3424186 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 3424186 3424186 C T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known silent c.2922 p.C974 0.014 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd 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 77 0 0 32 11 25.5814 RGS12 0 genome.wustl.edu 37 4 3430399 3430399 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 3430399 3430399 A G SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.3526 p.K1176E 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 137 1 0.724638 72 36 33.3333 ADRA2C 0 genome.wustl.edu 37 4 3768793 3768793 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 3768793 3768793 A G SNP ADRA2C ENST00000330055 human ensembl 74_37 +1 known missense c.460 p.T154A 1.000 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_ADRA2C_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA2C HGNC ENSG00000184160 75 0 0 28 7 20 TBC1D1 0 genome.wustl.edu 37 4 38016291 38016291 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 38016291 38016291 C T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known silent c.579 p.I193 0.623 smart_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 229 0 0 97 46 32.1678 TBC1D1 0 genome.wustl.edu 37 4 38051444 38051444 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 38051444 38051444 G A SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.1835 p.R612Q 0.002 NULL 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 208 0 0 96 45 31.9149 TBC1D1 0 genome.wustl.edu 37 4 38119751 38119751 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 38119751 38119751 C T SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known missense c.2900 p.A967V 0.983 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,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 420 0 0 328 19 5.4755 RPL9 0 genome.wustl.edu 37 4 39458157 39458157 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 39458157 39458157 C T SNP RPL9 ENST00000295955 human ensembl 74_37 -1 known missense c.260 p.G87D 1.000 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 pfam_Ribosomal_L6_a/b-dom,superfamily_Ribosomal_L6_a/b-dom,pirsf_Ribosomal_L6 - no_errors RPL9 HGNC ENSG00000163682 77 0 0 57 15 20.8333 LIAS 0 genome.wustl.edu 37 4 39472857 39472857 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 39472857 39472857 A G SNP LIAS ENST00000261434 human ensembl 74_37 +1 known silent c.885 p.A295 0.787 pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC ENSG00000121897 158 0 0 81 51 38.6364 UGDH 0 genome.wustl.edu 37 4 39512403 39512403 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 39512403 39512403 G A SNP UGDH ENST00000316423 human ensembl 74_37 -1 known missense c.343 p.R115C 1.000 pfam_UDP-Glc/GDP-Man_DH_N,tigrfam_UDP-Glc/GDP-Man pfam_UDP-Glc/GDP-Man_DH_N,pfam_UDP-Glc/GDP-Man_DH_C,pfam_UDP-Glc/GDP-Man_DH_dimer,superfamily_UDP-Glc/GDP-Man_DH_C,superfamily_6-PGluconate_DH_C-like,tigrfam_UDP-Glc/GDP-Man - no_errors UGDH HGNC ENSG00000109814 233 0 0 116 52 30.9524 CHRNA9 0 genome.wustl.edu 37 4 40356064 40356064 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 40356064 40356064 A G SNP CHRNA9 ENST00000310169 human ensembl 74_37 +1 known missense c.967 p.I323V 0.995 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA9 HGNC ENSG00000174343 507 0 0 334 37 9.97305 OTOP1 0 genome.wustl.edu 37 4 4199372 4199372 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 4199372 4199372 T C SNP OTOP1 ENST00000296358 human ensembl 74_37 -1 known missense c.1189 p.T397A 0.979 pfam_Otopetrin pfam_Otopetrin - no_errors OTOP1 HGNC ENSG00000163982 165 0 0 86 43 33.3333 ABCA11P 0 genome.wustl.edu 37 4 419967 419967 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 419967 419967 A G SNP ABCA11P ENST00000451020 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ABCA11P HGNC ENSG00000251595 64 0 0 31 14 31.1111 GABRG1 0 genome.wustl.edu 37 4 46053588 46053588 + Silent SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 46053588 46053588 A C SNP GABRG1 ENST00000295452 human ensembl 74_37 -1 known silent c.984 p.S328 0.659 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg1_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG1 HGNC ENSG00000163285 118 0 0 68 5 6.84932 ATP10D 0 genome.wustl.edu 37 4 47556800 47556800 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 47556800 47556800 C T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.1693 p.R565W 0.679 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 179 0 0 106 41 27.8912 TXK 0 genome.wustl.edu 37 4 48115286 48115286 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 48115286 48115286 G A SNP TXK ENST00000264316 human ensembl 74_37 -1 known missense c.112 p.L38F 0.018 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,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 - no_errors TXK HGNC ENSG00000074966 334 0 0 221 24 9.79592 TEC 0 genome.wustl.edu 37 4 48148398 48148398 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 48148398 48148398 C T SNP TEC ENST00000381501 human ensembl 74_37 -1 known missense c.1025 p.R342Q 1.000 superfamily_Kinase-like_dom,pfscan_SH2 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 227 0 0 162 10 5.81395 FRYL 0 genome.wustl.edu 37 4 48501614 48501614 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 48501614 48501614 G A SNP FRYL ENST00000358350 human ensembl 74_37 -1 known missense c.8867 p.T2956M 1.000 NULL superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 161 0 0 90 46 33.8235 PIGG 0 genome.wustl.edu 37 4 520905 520905 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 520905 520905 G A SNP PIGG ENST00000453061 human ensembl 74_37 +1 known missense c.2147 p.C716Y 1.000 NULL pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 82 0 0 48 20 29.4118 LNX1 0 genome.wustl.edu 37 4 54327149 54327149 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 54327149 54327149 G A SNP LNX1 ENST00000263925 human ensembl 74_37 -1 known silent c.2112 p.C704 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors LNX1 HGNC ENSG00000072201 147 0 0 67 46 40.708 KIT 0 genome.wustl.edu 37 4 55592140 55592140 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 55592140 55592140 G A SNP KIT ENST00000288135 human ensembl 74_37 +1 known silent c.1464 p.T488 0.007 pirsf_Tyr_kinase_CSF1/PDGF_rcpt pirsf_Tyr_kinase_CSF1/PDGF_rcpt,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,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors KIT HGNC ENSG00000157404 150 0 0 67 24 26.3736 KDR 0 genome.wustl.edu 37 4 55968120 55968120 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 55968120 55968120 C T SNP KDR ENST00000263923 human ensembl 74_37 -1 known missense c.2210 p.C737Y 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-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_VEGFR2_rcpt - no_errors KDR HGNC ENSG00000128052 215 0 0 117 7 5.64516 EVC 0 genome.wustl.edu 37 4 5721059 5721059 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 5721059 5721059 A G SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.259 p.K87E 0.001 NULL NULL - no_errors EVC HGNC ENSG00000072840 256 1 0.389105 180 18 9.09091 AASDH 0 genome.wustl.edu 37 4 57244456 57244456 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 57244456 57244456 T C SNP AASDH ENST00000205214 human ensembl 74_37 -1 known missense c.526 p.N176D 0.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_Acyl_carrier_prot-like,superfamily_Quinonprotein_ADH-like_supfam,superfamily_Acyl_carrier_prot-like,smart_PQQ_beta_propeller_repeat,pfscan_Acyl_carrier_prot-like - no_errors AASDH HGNC ENSG00000157426 204 0 0 97 34 25.9542 WFS1 0 genome.wustl.edu 37 4 6293722 6293722 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 6293722 6293722 A C SNP WFS1 ENST00000226760 human ensembl 74_37 +1 known missense c.710 p.E237A 0.986 NULL NULL - no_errors WFS1 HGNC ENSG00000109501 15 0 0 8 5 38.4615 TECRL 0 genome.wustl.edu 37 4 65175608 65175608 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 65175608 65175608 A C SNP TECRL ENST00000381210 human ensembl 74_37 -1 known missense c.593 p.L198R 0.999 NULL pfam_3-oxo-5_a-steroid_4-DH_C,pfscan_3-oxo-5_a-steroid_4-DH_C - no_errors TECRL HGNC ENSG00000205678 163 0 0 82 29 26.1261 PDE6B 0 genome.wustl.edu 37 4 656356 656356 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 656356 656356 G A SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known missense c.1781 p.G594D 0.988 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 146 0 0 99 6 5.71429 PDE6B 0 genome.wustl.edu 37 4 657603 657603 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 657603 657603 C T SNP PDE6B ENST00000496514 human ensembl 74_37 +1 known silent c.1965 p.H655 0.992 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6B HGNC ENSG00000133256 55 0 0 20 11 35.4839 EPHA5 0 genome.wustl.edu 37 4 66280009 66280009 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 66280009 66280009 G A SNP EPHA5 ENST00000273854 human ensembl 74_37 -1 known silent c.1680 p.T560 1.000 superfamily_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_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 210 0 0 145 13 8.22785 MFSD7 0 genome.wustl.edu 37 4 678549 678549 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 678549 678549 C T SNP MFSD7 ENST00000404286 human ensembl 74_37 -1 known missense c.682 p.A228T 0.004 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD7 HGNC ENSG00000169026 120 0 0 62 30 32.6087 UBA6 0 genome.wustl.edu 37 4 68528931 68528931 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 68528931 68528931 T C SNP UBA6 ENST00000322244 human ensembl 74_37 -1 known silent c.963 p.A321 1.000 superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_Ub-activating_enz_e1_C,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA6 HGNC ENSG00000033178 357 1 0.27933 204 88 30.137 ANKRD17 0 genome.wustl.edu 37 4 73950975 73950975 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 73950975 73950975 C T SNP ANKRD17 ENST00000358602 human ensembl 74_37 -1 known missense c.7150 p.A2384T 1.000 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 ANKRD17 HGNC ENSG00000132466 557 0 0 264 116 30.5263 CXCL2 0 genome.wustl.edu 37 4 74964597 74964597 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 74964597 74964597 G A SNP CXCL2 ENST00000508487 human ensembl 74_37 -1 known missense c.143 p.T48I 0.534 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors CXCL2 HGNC ENSG00000081041 299 0 0 175 74 29.7189 SHROOM3 0 genome.wustl.edu 37 4 77661424 77661424 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 77661424 77661424 A G SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.2098 p.K700E 0.001 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 356 0 0 264 19 6.71378 FRAS1 0 genome.wustl.edu 37 4 79403543 79403543 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 79403543 79403543 A G SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.8606 p.Y2869C 0.986 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 414 0 0 219 98 30.9148 ABLIM2 0 genome.wustl.edu 37 4 8029575 8029575 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 8029575 8029575 A G SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known missense c.1178 p.V393A 0.993 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 45 0 0 27 11 28.9474 PRKG2 0 genome.wustl.edu 37 4 82096098 82096098 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 82096098 82096098 A G SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known silent c.477 p.I159 0.998 superfamily_cNMP-bd-like,pirsf_cGMP-dependent_protein_kinase pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 229 1 0.434783 124 68 35.4167 LIN54 0 genome.wustl.edu 37 4 83891603 83891603 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 83891603 83891603 A G SNP LIN54 ENST00000395282 human ensembl 74_37 -1 known missense c.704 p.L235P 1.000 NULL NULL - no_errors LIN54 HGNC ENSG00000189308 276 0 0 175 11 5.91398 HPSE 0 genome.wustl.edu 37 4 84222192 84222192 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 84222192 84222192 G A SNP HPSE ENST00000311412 human ensembl 74_37 -1 known missense c.1393 p.R465W 0.955 NULL pfam_Glyco_hydro_79,superfamily_Glycoside_hydrolase_SF - no_errors HPSE HGNC ENSG00000173083 148 0 0 56 28 33.3333 WDFY3 0 genome.wustl.edu 37 4 85611684 85611684 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 85611684 85611684 T A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.9338 p.K3113M 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom 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 192 0 0 122 10 7.57576 WDFY3 0 genome.wustl.edu 37 4 85658383 85658383 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 85658383 85658383 C T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.6711 p.R2237 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 168 1 0.591716 99 27 21.4286 WDFY3 0 genome.wustl.edu 37 4 85719168 85719168 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 85719168 85719168 A G SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.2916 p.S972 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 230 0 0 117 49 29.5181 KLHL8 0 genome.wustl.edu 37 4 88106783 88106783 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 88106783 88106783 G A SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.385 p.R129W 0.987 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_Kelch_2,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 KLHL8 HGNC ENSG00000145332 107 0 0 42 25 37.3134 UNC5C 0 genome.wustl.edu 37 4 96166239 96166239 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 96166239 96166239 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known nonsense c.832 p.R278* 0.996 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 88 0 0 52 19 26.7606 SLC2A9 0 genome.wustl.edu 37 4 9836622 9836622 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 9836622 9836622 C T SNP SLC2A9 ENST00000264784 human ensembl 74_37 -1 known silent c.1302 p.P434 0.001 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt,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 SLC2A9 HGNC ENSG00000109667 119 0 0 53 21 28.3784 IDUA 0 genome.wustl.edu 37 4 996134 996134 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 996134 996134 T C SNP IDUA ENST00000453894 human ensembl 74_37 +1 known silent c.1116 p.N372 0.990 pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_39,superfamily_Glycoside_hydrolase_SF,superfamily_Fibronectin_type3,prints_Glyco_hydro_39 - no_errors IDUA HGNC ENSG00000127415 53 0 0 28 3 9.67742 ADH5 0 genome.wustl.edu 37 4 99996121 99996121 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 99996121 99996121 G A SNP ADH5 ENST00000296412 human ensembl 74_37 -1 known missense c.905 p.A302V 0.843 pfam_ADH_C,tigrfam_ADH_3 pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,tigrfam_ADH_3 - no_errors ADH5 HGNC ENSG00000197894 400 1 0.249377 203 82 28.7719 PPIP5K2 0 genome.wustl.edu 37 5 102508909 102508909 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 102508909 102508909 T C SNP PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known silent c.2337 p.C779 1.000 pfam_His_Pase_superF_clade-2 pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 104 0 0 58 28 32.5581 WDR36 0 genome.wustl.edu 37 5 110448839 110448839 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 110448839 110448839 C T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.1951 p.L651F 1.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 130 0 0 90 11 10.8911 CAMK4 0 genome.wustl.edu 37 5 110710600 110710600 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 110710600 110710600 A G SNP CAMK4 ENST00000282356 human ensembl 74_37 +1 known missense c.293 p.H98R 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 CAMK4 HGNC ENSG00000152495 89 0 0 47 13 21.6667 APC 0 genome.wustl.edu 37 5 112176653 112176653 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 112176653 112176653 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.5362 p.R1788C 0.678 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 76 0 0 34 18 34.6154 FTMT 0 genome.wustl.edu 37 5 121187847 121187847 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 121187847 121187847 C T SNP FTMT ENST00000321339 human ensembl 74_37 +1 known silent c.189 p.A63 0.000 NULL pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 66 0 0 24 8 25 PPIC 0 genome.wustl.edu 37 5 122365031 122365031 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 122365031 122365031 A G SNP PPIC ENST00000306442 human ensembl 74_37 -1 known missense c.200 p.V67A 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIC HGNC ENSG00000168938 217 0 0 124 46 27.0588 CEP120 0 genome.wustl.edu 37 5 122708465 122708465 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 122708465 122708465 A G SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known missense c.2360 p.L787P 1.000 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 35 0 0 21 9 30 CEP120 0 genome.wustl.edu 37 5 122729096 122729096 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 122729096 122729096 A G SNP CEP120 ENST00000306467 human ensembl 74_37 -1 known silent c.708 p.N236 0.876 NULL pfam_DUF3668,superfamily_C2_dom - no_errors CEP120 HGNC ENSG00000168944 165 0 0 122 17 12.2302 ZNF608 0 genome.wustl.edu 37 5 123984436 123984436 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 123984436 123984436 G A SNP ZNF608 ENST00000306315 human ensembl 74_37 -1 known silent c.1641 p.C547 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 273 0 0 114 62 35.2273 PHAX 0 genome.wustl.edu 37 5 125936659 125936659 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 125936659 125936659 C T SNP PHAX ENST00000297540 human ensembl 74_37 +1 known missense c.5 p.A2V 1.000 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 39 0 0 15 4 21.0526 FBN2 0 genome.wustl.edu 37 5 127686661 127686661 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 127686661 127686661 T A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.2711 p.D904V 1.000 pirsf_FBN,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 135 0 0 69 20 22.4719 DDX46 0 genome.wustl.edu 37 5 134099624 134099624 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 134099624 134099624 T C SNP DDX46 ENST00000452510 human ensembl 74_37 +1 known silent c.48 p.G16 0.091 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 DDX46 HGNC ENSG00000145833 157 0 0 80 13 13.9785 H2AFY 0 genome.wustl.edu 37 5 134724776 134724776 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 134724776 134724776 C T SNP H2AFY ENST00000511689 human ensembl 74_37 -1 known missense c.8 p.S3N 1.000 smart_Histone_H2A,pirsf_Core_histone_macro-H2A pfam_Macro_dom,pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2A,smart_Macro_dom,pirsf_Core_histone_macro-H2A,prints_Histone_H2A,pfscan_Macro_dom - no_errors H2AFY HGNC ENSG00000113648 114 0 0 66 8 10.8108 DNAH5 0 genome.wustl.edu 37 5 13737440 13737440 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 13737440 13737440 G A SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.11376 p.A3792 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 322 0 0 153 52 25.3659 BRD8 0 genome.wustl.edu 37 5 137498869 137498869 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 137498869 137498869 C G SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.2037 p.Q679H 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 124 0 0 83 12 12.6316 HSPA9 0 genome.wustl.edu 37 5 137892147 137892147 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 137892147 137892147 G A SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known silent c.1956 p.Y652 1.000 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 441 1 0.226244 233 95 28.9634 HSPA9 0 genome.wustl.edu 37 5 137895576 137895576 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 137895576 137895576 T C SNP HSPA9 ENST00000297185 human ensembl 74_37 -1 known missense c.1387 p.T463A 1.000 pfam_Hsp_70_fam,tigrfam_Chaperone_DnaK pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK - no_errors HSPA9 HGNC ENSG00000113013 84 0 0 38 15 28.3019 PURA 0 genome.wustl.edu 37 5 139494690 139494690 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 139494690 139494690 T C SNP PURA ENST00000331327 human ensembl 74_37 +1 known silent c.924 p.A308 1.000 NULL pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURA HGNC ENSG00000185129 37 0 0 17 10 37.037 PCDHA4 0 genome.wustl.edu 37 5 140188485 140188485 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140188485 140188485 T C SNP PCDHA4 ENST00000530339 human ensembl 74_37 +1 known silent c.1713 p.G571 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA4 HGNC ENSG00000204967 157 1 0.632911 84 29 25.6637 PCDHA5 0 genome.wustl.edu 37 5 140203078 140203078 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140203078 140203078 G A SNP PCDHA5 ENST00000529859 human ensembl 74_37 +1 known missense c.1718 p.G573D 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA5 HGNC ENSG00000204965 190 0 0 118 9 7.08661 PCDHA7 0 genome.wustl.edu 37 5 140216142 140216142 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140216142 140216142 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.2174 p.A725V 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 180 0 0 97 52 34.8993 PCDHA8 0 genome.wustl.edu 37 5 140221050 140221050 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140221050 140221050 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.144 p.I48 0.760 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 194 0 0 63 39 38.2353 PCDHA8 0 genome.wustl.edu 37 5 140222398 140222398 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140222398 140222398 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.1492 p.R498W 0.000 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 252 0 0 110 63 36.4162 PCDHA9 0 genome.wustl.edu 37 5 140229602 140229602 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140229602 140229602 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known missense c.1522 p.V508M 0.999 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 PCDHA9 HGNC ENSG00000204961 232 0 0 107 49 31.4103 PCDHAC1 0 genome.wustl.edu 37 5 140308328 140308328 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140308328 140308328 G A SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known silent c.1851 p.E617 1.000 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 PCDHAC1 HGNC ENSG00000248383 199 0 0 110 17 13.3858 PCDHAC1 0 genome.wustl.edu 37 5 140308672 140308672 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140308672 140308672 T C SNP PCDHAC1 ENST00000253807 human ensembl 74_37 +1 known missense c.2195 p.V732A 0.938 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC1 HGNC ENSG00000248383 186 0 0 92 43 31.8519 PCDHB1 0 genome.wustl.edu 37 5 140431696 140431696 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140431696 140431696 C T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.641 p.A214V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 35 0 0 20 15 42.8571 PCDHB2 0 genome.wustl.edu 37 5 140475265 140475265 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140475265 140475265 T C SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.891 p.S297 0.050 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 PCDHB2 HGNC ENSG00000112852 205 0 0 129 15 10.4167 PCDHB8 0 genome.wustl.edu 37 5 140558614 140558614 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140558614 140558614 C T SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.999 p.T333 0.000 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 PCDHB8 HGNC ENSG00000120322 786 0 0 482 74 13.3094 PCDHB11 0 genome.wustl.edu 37 5 140580953 140580953 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140580953 140580953 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known missense c.1606 p.R536C 0.000 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 PCDHB11 HGNC ENSG00000197479 227 0 0 97 45 31.6901 PCDHB14 0 genome.wustl.edu 37 5 140603462 140603462 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140603462 140603462 C T SNP PCDHB14 ENST00000239449 human ensembl 74_37 +1 known missense c.385 p.H129Y 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB14 HGNC ENSG00000120327 263 0 0 212 13 5.77778 PCDHB18 0 genome.wustl.edu 37 5 140615853 140615853 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140615853 140615853 T C SNP PCDHB18 ENST00000526308 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PCDHB18 HGNC ENSG00000146001 124 0 0 55 27 32.9268 PCDHB15 0 genome.wustl.edu 37 5 140626780 140626780 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140626780 140626780 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known missense c.1634 p.A545V 0.707 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 PCDHB15 HGNC ENSG00000113248 114 0 0 59 9 13.2353 PCDHGA6 0 genome.wustl.edu 37 5 140754314 140754314 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140754314 140754314 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known missense c.664 p.R222C 0.016 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 34 0 0 12 5 29.4118 PCDHGA7 0 genome.wustl.edu 37 5 140762574 140762574 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140762574 140762574 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known silent c.108 p.S36 0.000 pfam_Cadherin_N,superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 218 0 0 85 37 30.3279 PCDHGA7 0 genome.wustl.edu 37 5 140763137 140763137 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140763137 140763137 G A SNP PCDHGA7 ENST00000518325 human ensembl 74_37 +1 known missense c.671 p.S224N 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA7 HGNC ENSG00000253537 42 0 0 18 10 35.7143 PCDHGB4 0 genome.wustl.edu 37 5 140769136 140769136 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140769136 140769136 A G SNP PCDHGB4 ENST00000519479 human ensembl 74_37 +1 known missense c.1685 p.Y562C 1.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB4 HGNC ENSG00000253953 79 0 0 52 9 14.7541 PCDHGA8 0 genome.wustl.edu 37 5 140772809 140772809 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140772809 140772809 C T SNP PCDHGA8 ENST00000398604 human ensembl 74_37 +1 known silent c.429 p.N143 0.281 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA8 HGNC ENSG00000253767 137 0 0 57 38 40 PCDHGB7 0 genome.wustl.edu 37 5 140797939 140797939 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140797939 140797939 A C SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.513 p.Q171H 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 PCDHGB7 HGNC ENSG00000254122 96 0 0 46 21 31.3433 PCDHGA12 0 genome.wustl.edu 37 5 140811036 140811036 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140811036 140811036 A G SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.710 p.D237G 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 171 0 0 89 9 9.18367 PCDHGA12 0 genome.wustl.edu 37 5 140811779 140811779 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140811779 140811779 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1453 p.A485T 0.981 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 PCDHGA12 HGNC ENSG00000253159 122 0 0 67 33 33 PCDHGA12 0 genome.wustl.edu 37 5 140812627 140812627 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140812627 140812627 C G SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.2301 p.H767Q 0.009 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 272 0 0 180 28 13.4615 PCDHGC4 0 genome.wustl.edu 37 5 140867053 140867053 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140867053 140867053 C T SNP PCDHGC4 ENST00000306593 human ensembl 74_37 +1 known silent c.2313 p.G771 0.996 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC4 HGNC ENSG00000242419 117 1 0.847458 49 27 35.5263 ARAP3 0 genome.wustl.edu 37 5 141035786 141035786 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 141035786 141035786 G A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known missense c.3847 p.R1283C 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 254 1 0.392157 142 70 33.0189 TRIO 0 genome.wustl.edu 37 5 14399145 14399145 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 14399145 14399145 G T SNP TRIO ENST00000344204 human ensembl 74_37 +1 known missense c.4580 p.G1527V 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 226 2 0.877193 139 14 9.15033 SH3RF2 0 genome.wustl.edu 37 5 145442254 145442254 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 145442254 145442254 C A SNP SH3RF2 ENST00000359120 human ensembl 74_37 +1 known missense c.2180 p.P727H 1.000 NULL pfam_SH3_2,pfam_SH3_domain,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_SH3_domain - no_errors SH3RF2 HGNC ENSG00000156463 111 0 0 53 23 30.2632 RBM27 0 genome.wustl.edu 37 5 145613207 145613207 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 145613207 145613207 C T SNP RBM27 ENST00000265271 human ensembl 74_37 +1 known missense c.1045 p.P349S 0.993 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 135 0 0 60 33 35.4839 RBM27 0 genome.wustl.edu 37 5 145718668 145718668 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 145718668 145718668 G A SNP RBM27 ENST00000506502 human ensembl 74_37 +1 putative silent c.2949 p.E983 0.978 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 58 0 0 28 7 20 GPR151 0 genome.wustl.edu 37 5 145894652 145894652 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 145894652 145894652 T C SNP GPR151 ENST00000311104 human ensembl 74_37 -1 known missense c.1025 p.N342S 0.069 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR151 HGNC ENSG00000173250 76 0 0 44 16 26.6667 JAKMIP2 0 genome.wustl.edu 37 5 147024501 147024501 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 147024501 147024501 C T SNP JAKMIP2 ENST00000265272 human ensembl 74_37 -1 known missense c.995 p.C332Y 1.000 NULL NULL - no_errors JAKMIP2 HGNC ENSG00000176049 214 0 0 110 40 26.6667 SH3TC2 0 genome.wustl.edu 37 5 148406227 148406227 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 148406227 148406227 C T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known nonsense c.2961 p.W987* 1.000 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 385 0 0 168 75 30.8642 PDE6A 0 genome.wustl.edu 37 5 149265935 149265935 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 149265935 149265935 C T SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known silent c.1731 p.T577 0.036 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 85 0 0 44 19 30.1587 PDGFRB 0 genome.wustl.edu 37 5 149513540 149513540 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 149513540 149513540 C T SNP PDGFRB ENST00000520579 human ensembl 74_37 -1 known missense c.697 p.A233T 1.000 NULL pfam_Immunoglobulin,pfscan_Ig-like_dom - no_errors PDGFRB HGNC ENSG00000113721 167 0 0 74 37 33.3333 GLRA1 0 genome.wustl.edu 37 5 151304167 151304167 + RNA SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 151304167 151304167 T A SNP GLRA1 ENST00000471351 human ensembl 74_37 -1 known rna NULL NULL 0.933 - - - no_errors GLRA1 HGNC ENSG00000145888 146 0 0 125 19 13.1944 NMUR2 0 genome.wustl.edu 37 5 151784146 151784146 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 151784146 151784146 A C SNP NMUR2 ENST00000255262 human ensembl 74_37 -1 known missense c.529 p.F177V 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_NeuromedU_rcpt_2,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR2 HGNC ENSG00000132911 205 1 0.485437 98 51 34.2282 HAND1 0 genome.wustl.edu 37 5 153857288 153857288 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 153857288 153857288 C T SNP HAND1 ENST00000231121 human ensembl 74_37 -1 known missense c.281 p.R94Q 1.000 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors HAND1 HGNC ENSG00000113196 42 0 0 15 11 42.3077 LARP1 0 genome.wustl.edu 37 5 154179464 154179464 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 154179464 154179464 C T SNP LARP1 ENST00000336314 human ensembl 74_37 +1 known silent c.1347 p.T449 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 96 0 0 33 14 29.7872 GEMIN5 0 genome.wustl.edu 37 5 154281007 154281007 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 154281007 154281007 G C SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.2906 p.A969G 1.000 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 GEMIN5 HGNC ENSG00000082516 177 0 0 101 41 28.8732 PLEKHG4B 0 genome.wustl.edu 37 5 156323 156323 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 156323 156323 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known silent c.1278 p.S426 0.003 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 60 0 0 35 6 14.6341 TIMD4 0 genome.wustl.edu 37 5 156375481 156375481 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 156375481 156375481 A G SNP TIMD4 ENST00000274532 human ensembl 74_37 -1 known missense c.790 p.S264P 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIMD4 HGNC ENSG00000145850 38 0 0 34 5 12.8205 HAVCR1 0 genome.wustl.edu 37 5 156479583 156479583 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 156479583 156479583 C T SNP HAVCR1 ENST00000425854 human ensembl 74_37 -1 known silent c.462 p.T154 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors HAVCR1 HGNC ENSG00000113249 851 2 0.234467 512 132 20.4969 NIPAL4 0 genome.wustl.edu 37 5 156899400 156899400 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 156899400 156899400 C T SNP NIPAL4 ENST00000311946 human ensembl 74_37 +1 known missense c.833 p.A278V 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL4 HGNC ENSG00000172548 359 1 0.277778 192 88 31.4286 TTC1 0 genome.wustl.edu 37 5 159437849 159437849 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 159437849 159437849 C T SNP TTC1 ENST00000231238 human ensembl 74_37 +1 known missense c.314 p.S105L 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 56 0 0 19 7 26.9231 PTTG1 0 genome.wustl.edu 37 5 159849801 159849801 + Silent SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 159849801 159849801 T G SNP PTTG1 ENST00000352433 human ensembl 74_37 +1 known silent c.177 p.A59 0.004 pfam_Securin_separation_inhibitor pfam_Securin_separation_inhibitor - no_errors PTTG1 HGNC ENSG00000164611 264 0 0 151 14 8.48485 GABRG2 0 genome.wustl.edu 37 5 161522510 161522510 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 161522510 161522510 C T SNP GABRG2 ENST00000356592 human ensembl 74_37 +1 known missense c.269 p.T90M 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABBAg_rcpt,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRG2 HGNC ENSG00000113327 64 0 0 30 16 34.7826 MAT2B 0 genome.wustl.edu 37 5 162945385 162945385 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 162945385 162945385 T C SNP MAT2B ENST00000521838 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAT2B HGNC ENSG00000038274 112 0 0 59 24 28.9157 MYO10 0 genome.wustl.edu 37 5 16668508 16668508 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 16668508 16668508 G A SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.5953 p.R1985C 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 138 0 0 60 33 35.4839 MYO10 0 genome.wustl.edu 37 5 16670846 16670846 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 16670846 16670846 C T SNP MYO10 ENST00000513610 human ensembl 74_37 -1 known missense c.5672 p.R1891Q 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_Pleckstrin_homology,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_Ras-assoc,superfamily_P-loop_NTPase,superfamily_FERM_central,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology,prints_Myosin_head_motor_dom - no_errors MYO10 HGNC ENSG00000145555 141 0 0 56 22 28.2051 PLEKHG4B 0 genome.wustl.edu 37 5 169705 169705 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 169705 169705 C G SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.2659 p.H887D 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 153 0 0 80 45 36 TLX3 0 genome.wustl.edu 37 5 170736691 170736691 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 170736691 170736691 C T SNP TLX3 ENST00000296921 human ensembl 74_37 +1 known silent c.322 p.L108 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors TLX3 HGNC ENSG00000164438 21 0 0 19 8 29.6296 FBXW11 0 genome.wustl.edu 37 5 171384609 171384609 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 171384609 171384609 A G SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known missense c.139 p.C47R 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 FBXW11 HGNC ENSG00000072803 419 0 0 243 30 10.989 PLEKHG4B 0 genome.wustl.edu 37 5 171406 171406 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 171406 171406 C T SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known silent c.2829 p.Y943 0.998 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 47 0 0 24 8 25 SH3PXD2B 0 genome.wustl.edu 37 5 171765730 171765730 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 171765730 171765730 G A SNP SH3PXD2B ENST00000311601 human ensembl 74_37 -1 known silent c.2379 p.T793 0.001 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,pfam_SH3-like_bac-type,pfam_DUF1058,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2B HGNC ENSG00000174705 79 0 0 33 13 28.2609 MSX2 0 genome.wustl.edu 37 5 174156417 174156417 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 174156417 174156417 C T SNP MSX2 ENST00000239243 human ensembl 74_37 +1 known missense c.635 p.A212V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors MSX2 HGNC ENSG00000120149 114 1 0.869565 52 4 7.14286 ARL10 0 genome.wustl.edu 37 5 175793505 175793505 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 175793505 175793505 G A SNP ARL10 ENST00000310389 human ensembl 74_37 +1 known silent c.306 p.P102 0.996 pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 109 0 0 59 14 19.1781 ARL10 0 genome.wustl.edu 37 5 175798761 175798761 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 175798761 175798761 C T SNP ARL10 ENST00000310389 human ensembl 74_37 +1 known missense c.598 p.R200W 1.000 pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 262 0 0 109 46 29.6774 RNF44 0 genome.wustl.edu 37 5 175958479 175958479 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 175958479 175958479 G A SNP RNF44 ENST00000274811 human ensembl 74_37 -1 known silent c.450 p.C150 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF44 HGNC ENSG00000146083 16 0 0 14 5 26.3158 UNC5A 0 genome.wustl.edu 37 5 176306317 176306317 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 176306317 176306317 A G SNP UNC5A ENST00000329542 human ensembl 74_37 +1 known missense c.2191 p.R731G 0.938 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5A HGNC ENSG00000113763 279 0 0 169 13 7.14286 NSD1 0 genome.wustl.edu 37 5 176707797 176707797 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 176707797 176707797 C T SNP NSD1 ENST00000439151 human ensembl 74_37 +1 known missense c.5854 p.R1952W 1.000 smart_SET_dom,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors NSD1 HGNC ENSG00000165671 148 0 0 79 33 29.4643 F12 0 genome.wustl.edu 37 5 176832994 176832994 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 176832994 176832994 T C SNP F12 ENST00000253496 human ensembl 74_37 -1 known missense c.184 p.T62A 0.035 pirsf_Coagulation_fac_XIIa/HGFA,pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pirsf_Coagulation_fac_XIIa/HGFA,pfam_Peptidase_S1,pfam_Kringle,pfam_FN_type2_col-bd,pfam_EG-like_dom,pfam_Fibronectin_type1,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors F12 HGNC ENSG00000131187 336 2 0.591716 139 68 32.8502 FAM193B 0 genome.wustl.edu 37 5 176952098 176952098 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 176952098 176952098 G A SNP FAM193B ENST00000443375 human ensembl 74_37 -1 known missense c.1285 p.R429W 0.996 NULL NULL - no_errors FAM193B HGNC ENSG00000146067 79 0 0 58 21 26.5823 ZNF354B 0 genome.wustl.edu 37 5 178310550 178310550 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 178310550 178310550 G A SNP ZNF354B ENST00000322434 human ensembl 74_37 +1 known missense c.1097 p.S366N 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 165 0 0 122 12 8.95522 ZNF354B 0 genome.wustl.edu 37 5 178311048 178311048 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 178311048 178311048 G A SNP ZNF354B ENST00000322434 human ensembl 74_37 +1 known missense c.1595 p.G532D 0.475 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF354B HGNC ENSG00000178338 171 0 0 72 37 33.945 TRIM41 0 genome.wustl.edu 37 5 180651147 180651147 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 180651147 180651147 G A SNP TRIM41 ENST00000315073 human ensembl 74_37 +1 known missense c.148 p.G50R 0.971 smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,pfam_DUF3631,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 TRIM41 HGNC ENSG00000146063 77 0 0 40 19 32.2034 LRRC14B 0 genome.wustl.edu 37 5 194870 194870 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 194870 194870 T C SNP LRRC14B ENST00000328278 human ensembl 74_37 +1 novel missense c.947 p.L316P 1.000 NULL NULL - no_errors LRRC14B HGNC ENSG00000185028 44 0 0 35 4 10.2564 NPR3 0 genome.wustl.edu 37 5 32712294 32712294 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 32712294 32712294 T C SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known missense c.412 p.Y138H 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 218 0 0 112 47 29.5597 ADAMTS12 0 genome.wustl.edu 37 5 33596060 33596060 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 33596060 33596060 T C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.2633 p.H878R 0.818 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt 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 209 0 0 139 11 7.33333 SLC45A2 0 genome.wustl.edu 37 5 33947401 33947401 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 33947401 33947401 G A SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known missense c.1235 p.T412M 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 296 0 0 135 61 31.1224 SPEF2 0 genome.wustl.edu 37 5 35795817 35795817 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 35795817 35795817 T C SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known missense c.4750 p.F1584L 1.000 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 175 0 0 76 54 41.5385 IRX1 0 genome.wustl.edu 37 5 3600279 3600279 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 3600279 3600279 T G SNP IRX1 ENST00000302006 human ensembl 74_37 +1 known missense c.1217 p.L406R 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom - no_errors IRX1 HGNC ENSG00000170549 64 0 0 31 10 24.3902 RANBP3L 0 genome.wustl.edu 37 5 36257027 36257027 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 36257027 36257027 A G SNP RANBP3L ENST00000515759 human ensembl 74_37 -1 novel missense c.919 p.F307L 0.002 NULL NULL - no_errors RANBP3L HGNC ENSG00000164188 94 0 0 40 24 37.5 NIPBL 0 genome.wustl.edu 37 5 36985832 36985832 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 36985832 36985832 T C SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.2550 p.S850 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 111 0 0 68 5 6.84932 NIPBL 0 genome.wustl.edu 37 5 37059070 37059070 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 37059070 37059070 A G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.7488 p.E2496 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 218 1 0.456621 111 57 33.9286 LIFR 0 genome.wustl.edu 37 5 38496504 38496504 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 38496504 38496504 G A SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.1865 p.A622V 0.989 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 253 0 0 115 43 27.2152 C9 0 genome.wustl.edu 37 5 39331866 39331866 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 39331866 39331866 A G SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.527 p.F176S 0.973 NULL 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 315 0 0 171 59 25.6522 DAB2 0 genome.wustl.edu 37 5 39393475 39393475 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 39393475 39393475 A G SNP DAB2 ENST00000320816 human ensembl 74_37 -1 known missense c.112 p.Y38H 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB2 HGNC ENSG00000153071 254 0 0 187 10 5.07614 C6 0 genome.wustl.edu 37 5 41142990 41142990 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 41142990 41142990 C A SNP C6 ENST00000263413 human ensembl 74_37 -1 known silent c.2742 p.V914 1.000 smart_FacI_MAC pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal_dom,superfamily_Sushi_SCR_CCP,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt - no_errors C6 HGNC ENSG00000039537 175 0 0 118 11 8.52713 NNT 0 genome.wustl.edu 37 5 43656831 43656831 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 43656831 43656831 C T SNP NNT ENST00000264663 human ensembl 74_37 +1 known silent c.2370 p.G790 0.771 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 157 1 0.632911 75 32 29.9065 SLC9A3 0 genome.wustl.edu 37 5 481730 481730 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 481730 481730 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known silent c.1467 p.S489 0.154 prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 434 0 0 209 137 39.5954 SLC9A3 0 genome.wustl.edu 37 5 484636 484636 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 484636 484636 C T SNP SLC9A3 ENST00000264938 human ensembl 74_37 -1 known missense c.931 p.A311T 1.000 pfam_Cation/H_exchanger,prints_Na/H_exchanger_3/5,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,superfamily_Reg_factor_effector_dom,prints_Na/H_exchanger_3/5,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A3 HGNC ENSG00000066230 77 0 0 33 10 23.2558 ADAMTS16 0 genome.wustl.edu 37 5 5239878 5239878 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 5239878 5239878 T C SNP ADAMTS16 ENST00000274181 human ensembl 74_37 +1 known missense c.2363 p.V788A 0.722 pfam_ADAM_spacer1 pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS16 HGNC ENSG00000145536 272 0 0 141 22 13.4969 CDC20B 0 genome.wustl.edu 37 5 54420721 54420721 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 54420721 54420721 A G SNP CDC20B ENST00000296733 human ensembl 74_37 -1 known silent c.1125 p.S375 0.581 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CDC20B HGNC ENSG00000164287 154 0 0 72 16 18.1818 DEPDC1B 0 genome.wustl.edu 37 5 59893631 59893631 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 59893631 59893631 T C SNP DEPDC1B ENST00000265036 human ensembl 74_37 -1 known silent c.1539 p.A513 0.979 NULL pfam_DEP_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_DEP_dom,pfscan_DEP_dom,pfscan_RhoGAP_dom - no_errors DEPDC1B HGNC ENSG00000035499 364 0 0 253 15 5.59701 ERCC8 0 genome.wustl.edu 37 5 60198332 60198332 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 60198332 60198332 T C SNP ERCC8 ENST00000265038 human ensembl 74_37 -1 known missense c.554 p.H185R 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors ERCC8 HGNC ENSG00000049167 131 0 0 99 24 19.5122 KIF2A 0 genome.wustl.edu 37 5 61642978 61642978 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 61642978 61642978 T C SNP KIF2A ENST00000407818 human ensembl 74_37 +1 known missense c.86 p.V29A 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2A HGNC ENSG00000068796 18 0 0 5 6 54.5455 DIMT1 0 genome.wustl.edu 37 5 61694653 61694653 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 61694653 61694653 T A SNP DIMT1 ENST00000199320 human ensembl 74_37 -1 known missense c.296 p.Q99L 1.000 pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase pfam_rRNA_Ade_methylase_transferase,smart_rRNA_Ade_methylase_Trfase_N,tigrfam_rRNA_adenine_dimethylase - no_errors DIMT1 HGNC ENSG00000086189 89 0 0 63 8 11.2676 PPWD1 0 genome.wustl.edu 37 5 64881889 64881889 + Nonsense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 64881889 64881889 G T SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known nonsense c.1678 p.G560* 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 225 0 0 137 26 15.9509 PPWD1 0 genome.wustl.edu 37 5 64883133 64883133 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 64883133 64883133 A G SNP PPWD1 ENST00000261308 human ensembl 74_37 +1 known silent c.1851 p.E617 1.000 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,pfam_WD40_repeat,superfamily_Cyclophilin-like_PPIase_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PPWD1 HGNC ENSG00000113593 160 0 0 87 35 28.6885 ERBB2IP 0 genome.wustl.edu 37 5 65340099 65340099 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 65340099 65340099 T C SNP ERBB2IP ENST00000284037 human ensembl 74_37 +1 known silent c.1563 p.H521 0.996 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors ERBB2IP HGNC ENSG00000112851 131 0 0 65 37 36.2745 NSUN2 0 genome.wustl.edu 37 5 6604762 6604762 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 6604762 6604762 T C SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.1774 p.N592D 1.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 179 0 0 138 13 8.60927 PAPD7 0 genome.wustl.edu 37 5 6754991 6754991 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 6754991 6754991 G A SNP PAPD7 ENST00000230859 human ensembl 74_37 +1 known missense c.1562 p.R521H 1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 85 0 0 46 14 23.3333 PIK3R1 0 genome.wustl.edu 37 5 67576452 67576452 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 67576452 67576452 T C SNP PIK3R1 ENST00000396611 human ensembl 74_37 +1 known missense c.731 p.L244S 0.999 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_SH2,pfam_RhoGAP_dom,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Guanylate-bd_C,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2 - no_errors PIK3R1 HGNC ENSG00000145675 301 0 0 163 72 30.6383 MAP1B 0 genome.wustl.edu 37 5 71491781 71491781 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 71491781 71491781 C T SNP MAP1B ENST00000296755 human ensembl 74_37 +1 known silent c.2599 p.L867 0.001 NULL pfam_MAP1B_neuraxin - no_errors MAP1B HGNC ENSG00000131711 365 0 0 171 81 32.1429 FCHO2 0 genome.wustl.edu 37 5 72313086 72313086 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 72313086 72313086 T C SNP FCHO2 ENST00000341845 human ensembl 74_37 +1 known silent c.747 p.S249 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_FCH_dom,smart_FCH_dom,pfscan_FCH_dom - no_errors FCHO2 HGNC ENSG00000157107 12 0 0 5 2 28.5714 TMEM171 0 genome.wustl.edu 37 5 72427510 72427510 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 72427510 72427510 G A SNP TMEM171 ENST00000454765 human ensembl 74_37 +1 known missense c.928 p.A310T 0.000 NULL NULL - no_errors TMEM171 HGNC ENSG00000157111 314 0 0 140 55 28.2051 HEXB 0 genome.wustl.edu 37 5 74016518 74016518 + Missense_Mutation SNP G G C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 74016518 74016518 G C SNP HEXB ENST00000261416 human ensembl 74_37 +1 known missense c.1559 p.R520T 0.003 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_20_cat-core,pfam_Glyco_hydro_20b,superfamily_Glycoside_hydrolase_SF,prints_Beta_hexosaminidase_sua/sub - no_errors HEXB HGNC ENSG00000049860 114 0 0 56 24 30 GFM2 0 genome.wustl.edu 37 5 74026118 74026118 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 74026118 74026118 G A SNP GFM2 ENST00000296805 human ensembl 74_37 -1 known nonsense c.1693 p.R565* 1.000 pfam_Transl_elong_EFG/EF2_IV,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV 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 152 0 0 67 28 29.4737 POC5 0 genome.wustl.edu 37 5 74981304 74981304 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 74981304 74981304 C T SNP POC5 ENST00000428202 human ensembl 74_37 -1 known missense c.1135 p.D379N 0.102 NULL NULL - no_errors POC5 HGNC ENSG00000152359 192 1 0.518135 145 10 6.45161 PDE8B 0 genome.wustl.edu 37 5 76714268 76714268 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 76714268 76714268 A G SNP PDE8B ENST00000264917 human ensembl 74_37 +1 known missense c.2126 p.D709G 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,pfam_PDEase_PDE8,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,pfam_PAS_fold_3,superfamily_PAS,superfamily_CheY-like_superfamily,smart_PAS,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8B HGNC ENSG00000113231 40 0 0 38 3 7.31707 ADCY2 0 genome.wustl.edu 37 5 7709482 7709482 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 7709482 7709482 C T SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.1560 p.N520 0.962 pfam_Adenylate_cyclase-like pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 64 0 0 24 4 14.2857 CMYA5 0 genome.wustl.edu 37 5 79027098 79027098 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 79027098 79027098 G T SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.2510 p.G837V 0.866 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 127 0 0 58 30 34.0909 MSH3 0 genome.wustl.edu 37 5 80074641 80074641 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 80074641 80074641 G A SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known nonsense c.2421 p.W807* 1.000 pfam_DNA_mismatch_repair_MutS_core,superfamily_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_core pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 198 0 0 91 36 28.3465 RASGRF2 0 genome.wustl.edu 37 5 80382666 80382666 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 80382666 80382666 T C SNP RASGRF2 ENST00000265080 human ensembl 74_37 +1 known silent c.1284 p.D428 1.000 superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain 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 RASGRF2 HGNC ENSG00000113319 117 0 0 56 5 8.19672 ZCCHC9 0 genome.wustl.edu 37 5 80600735 80600735 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 80600735 80600735 A G SNP ZCCHC9 ENST00000254037 human ensembl 74_37 +1 known silent c.159 p.A53 0.199 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 152 0 0 60 25 29.4118 SSBP2 0 genome.wustl.edu 37 5 80762804 80762804 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 80762804 80762804 A G SNP SSBP2 ENST00000320672 human ensembl 74_37 -1 known silent c.627 p.P209 1.000 NULL smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_SSDP_DNA-bd - no_errors SSBP2 HGNC ENSG00000145687 161 0 0 60 33 35.4839 LYSMD3 0 genome.wustl.edu 37 5 89815165 89815165 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 89815165 89815165 C T SNP LYSMD3 ENST00000315948 human ensembl 74_37 -1 known missense c.392 p.R131H 0.377 NULL pfam_LysM_dom,smart_LysM_dom - no_errors LYSMD3 HGNC ENSG00000176018 194 0 0 102 43 29.6552 GPR98 0 genome.wustl.edu 37 5 89948258 89948258 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 89948258 89948258 A G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.3512 p.E1171G 1.000 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 178 0 0 98 33 25.1908 GPR98 0 genome.wustl.edu 37 5 89979549 89979549 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 89979549 89979549 T C SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known silent c.5811 p.P1937 0.282 smart_Calx_beta 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 95 0 0 37 16 30.1887 GPR98 0 genome.wustl.edu 37 5 89992933 89992933 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 89992933 89992933 A G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.8125 p.T2709A 0.996 NULL pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 195 0 0 73 45 38.1356 SEMA5A 0 genome.wustl.edu 37 5 9044647 9044647 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 9044647 9044647 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2943 p.L981 0.390 NULL 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 204 0 0 88 46 34.3284 FAM81B 0 genome.wustl.edu 37 5 94772530 94772530 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 94772530 94772530 A G SNP FAM81B ENST00000283357 human ensembl 74_37 +1 known silent c.813 p.E271 0.182 NULL NULL - no_errors FAM81B HGNC ENSG00000153347 101 1 0.980392 64 19 22.8916 ELL2 0 genome.wustl.edu 37 5 95234064 95234064 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 95234064 95234064 G A SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.1405 p.H469Y 1.000 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 339 1 0.294118 201 80 28.4698 ELL2 0 genome.wustl.edu 37 5 95249542 95249542 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 95249542 95249542 C T SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known missense c.414 p.M138I 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 349 0 0 210 24 10.2564 LNPEP 0 genome.wustl.edu 37 5 96332172 96332172 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 96332172 96332172 T C SNP LNPEP ENST00000231368 human ensembl 74_37 +1 known missense c.1486 p.F496L 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LNPEP HGNC ENSG00000113441 91 0 0 59 5 7.8125 SIM1 0 genome.wustl.edu 37 6 100838549 100838549 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 100838549 100838549 C T SNP SIM1 ENST00000262901 human ensembl 74_37 -1 known silent c.1989 p.S663 0.893 pfam_SIM_C pfam_SIM_C,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 - no_errors SIM1 HGNC ENSG00000112246 325 0 0 172 91 34.6008 HACE1 0 genome.wustl.edu 37 6 105177475 105177475 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 105177475 105177475 C T SNP HACE1 ENST00000517995 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HACE1 HGNC ENSG00000085382 55 0 0 25 9 26.4706 PREP 0 genome.wustl.edu 37 6 105781355 105781355 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 105781355 105781355 A G SNP PREP ENST00000369110 human ensembl 74_37 -1 known silent c.849 p.I283 0.796 pfam_Pept_S9A_N pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 229 0 0 111 62 35.8382 PRDM1 0 genome.wustl.edu 37 6 106552829 106552829 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 106552829 106552829 A G SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known missense c.794 p.D265G 1.000 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 628 1 0.158983 341 156 31.3883 RTN4IP1 0 genome.wustl.edu 37 6 107076676 107076676 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 107076676 107076676 A G SNP RTN4IP1 ENST00000369063 human ensembl 74_37 -1 known missense c.221 p.V74A 1.000 pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors RTN4IP1 HGNC ENSG00000130347 231 0 0 151 14 8.48485 SCML4 0 genome.wustl.edu 37 6 108066254 108066254 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 108066254 108066254 C T SNP SCML4 ENST00000369021 human ensembl 74_37 -1 known missense c.494 p.R165Q 0.995 pfam_DUF3588 pfam_DUF3588 - no_errors SCML4 HGNC ENSG00000146285 101 0 0 33 21 38.8889 PPIL6 0 genome.wustl.edu 37 6 109752425 109752425 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 109752425 109752425 T C SNP PPIL6 ENST00000521072 human ensembl 74_37 -1 known missense c.355 p.K119E 0.716 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIL6 HGNC ENSG00000185250 230 0 0 168 10 5.61798 FIG4 0 genome.wustl.edu 37 6 110146437 110146437 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 110146437 110146437 A G SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.2693 p.Y898C 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 165 0 0 77 24 23.7624 CDK19 0 genome.wustl.edu 37 6 110935840 110935840 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 110935840 110935840 G A SNP CDK19 ENST00000368911 human ensembl 74_37 -1 known silent c.1407 p.S469 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 CDK19 HGNC ENSG00000155111 128 0 0 82 11 11.828 RPF2 0 genome.wustl.edu 37 6 111320915 111320915 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 111320915 111320915 T C SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known silent c.318 p.G106 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 124 1 0.8 83 6 6.74157 REV3L 0 genome.wustl.edu 37 6 111695404 111695404 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 111695404 111695404 T A SNP REV3L ENST00000358835 human ensembl 74_37 -1 known missense c.4154 p.N1385I 0.172 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 186 0 0 93 11 10.5769 TRAF3IP2 0 genome.wustl.edu 37 6 111912880 111912880 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 111912880 111912880 C T SNP TRAF3IP2 ENST00000340026 human ensembl 74_37 -1 known missense c.437 p.R146H 0.001 NULL pfam_SEFIR - no_errors TRAF3IP2 HGNC ENSG00000056972 105 0 0 66 11 14.2857 LAMA4 0 genome.wustl.edu 37 6 112462562 112462562 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 112462562 112462562 T C SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known silent c.2811 p.E937 0.997 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 185 0 0 98 41 29.4964 LAMA4 0 genome.wustl.edu 37 6 112528337 112528337 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 112528337 112528337 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.307 p.R103W 0.122 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 156 0 0 69 33 32.3529 COL10A1 0 genome.wustl.edu 37 6 116442008 116442008 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 116442008 116442008 A G SNP COL10A1 ENST00000243222 human ensembl 74_37 -1 known missense c.1271 p.V424A 0.000 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL10A1 HGNC ENSG00000123500 132 0 0 88 5 5.37634 TSPYL1 0 genome.wustl.edu 37 6 116600509 116600509 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 116600509 116600509 G A SNP TSPYL1 ENST00000368608 human ensembl 74_37 -1 known missense c.485 p.T162I 0.000 NULL pfam_NAP_family - no_errors TSPYL1 HGNC ENSG00000189241 173 1 0.574713 74 40 35.0877 DCBLD1 0 genome.wustl.edu 37 6 117862089 117862089 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 117862089 117862089 T C SNP DCBLD1 ENST00000338728 human ensembl 74_37 +1 known missense c.1258 p.S420P 0.936 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_LCCL,pfam_CUB_dom,superfamily_Galactose-bd-like,superfamily_LCCL,superfamily_CUB_dom,smart_CUB_dom,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL - no_errors DCBLD1 HGNC ENSG00000164465 225 0 0 100 48 32.4324 FAM184A 0 genome.wustl.edu 37 6 119285848 119285848 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 119285848 119285848 A G SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.3122 p.I1041T 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 33 0 0 17 3 15 FAM184A 0 genome.wustl.edu 37 6 119297200 119297200 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 119297200 119297200 C T SNP FAM184A ENST00000338891 human ensembl 74_37 -1 known missense c.2465 p.R822H 1.000 NULL superfamily_Prefoldin - no_errors FAM184A HGNC ENSG00000111879 110 1 0.900901 53 19 26.3889 GJA1 0 genome.wustl.edu 37 6 121768708 121768708 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 121768708 121768708 C T SNP GJA1 ENST00000282561 human ensembl 74_37 +1 known missense c.715 p.R239W 1.000 NULL pfam_Connexin_N,pfam_Connexin_CCC,pfam_Connexin43_C,smart_Connexin_N,prints_Connexin,prints_Connexin43 - no_errors GJA1 HGNC ENSG00000152661 198 0 0 95 31 24.6032 SERINC1 0 genome.wustl.edu 37 6 122768017 122768017 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 122768017 122768017 A G SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known silent c.1128 p.D376 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 186 0 0 101 43 29.8611 TRDN 0 genome.wustl.edu 37 6 123892227 123892227 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 123892227 123892227 G A SNP TRDN ENST00000398178 human ensembl 74_37 -1 known missense c.73 p.P25S 0.998 NULL pfam_Asp-B-hydro/Triadin_dom - no_errors TRDN HGNC ENSG00000186439 143 1 0.694444 74 7 8.64198 STL 0 genome.wustl.edu 37 6 125269226 125269226 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 125269226 125269226 C T SNP STL ENST00000439075 human ensembl 74_37 -1 known rna NULL NULL 0.196 - - - no_errors RP11-510H23.1 Clone_based_vega_gene ENSG00000236548 70 0 0 41 7 14.5833 RSPO3 0 genome.wustl.edu 37 6 127469863 127469863 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 127469863 127469863 A G SNP RSPO3 ENST00000368317 human ensembl 74_37 +1 known silent c.168 p.S56 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Thrombospondin_1_rpt,smart_Furin_repeat,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors RSPO3 HGNC ENSG00000146374 183 0 0 73 30 29.1262 SOGA3 0 genome.wustl.edu 37 6 127836026 127836026 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 127836026 127836026 T C SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.1268 p.Y423C 0.999 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 237 1 0.420168 125 45 26.4706 PTPRK 0 genome.wustl.edu 37 6 128318067 128318067 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 128318067 128318067 G A SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known nonsense c.2782 p.R928* 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 23 0 0 9 6 40 PTPRK 0 genome.wustl.edu 37 6 128643450 128643450 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 128643450 128643450 A G SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.229 p.Y77H 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom,prints_MAM_dom pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 267 0 0 139 66 32.1951 LAMA2 0 genome.wustl.edu 37 6 129759812 129759812 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 129759812 129759812 G A SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.5990 p.G1997D 0.620 NULL pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SNARE,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 LAMA2 HGNC ENSG00000196569 137 0 0 103 6 5.50459 ARG1 0 genome.wustl.edu 37 6 131903792 131903792 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 131903792 131903792 C T SNP ARG1 ENST00000356962 human ensembl 74_37 +1 known missense c.521 p.T174I 0.933 pfam_Ureohydrolase,tigrfam_Arginase pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG1 HGNC ENSG00000118520 226 0 0 108 38 26.0274 PHACTR1 0 genome.wustl.edu 37 6 13283685 13283685 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 13283685 13283685 G A SNP PHACTR1 ENST00000379335 human ensembl 74_37 +1 known missense c.233 p.R78Q 0.999 pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR1 HGNC ENSG00000112137 247 1 0.403226 128 66 34.0206 VNN1 0 genome.wustl.edu 37 6 133005526 133005526 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 133005526 133005526 A G SNP VNN1 ENST00000367928 human ensembl 74_37 -1 known missense c.1307 p.V436A 1.000 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors VNN1 HGNC ENSG00000112299 147 0 0 59 30 33.7079 TBC1D7 0 genome.wustl.edu 37 6 13306708 13306708 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 13306708 13306708 A G SNP TBC1D7 ENST00000356436 human ensembl 74_37 -1 known silent c.717 p.A239 0.994 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D7 HGNC ENSG00000145979 100 0 0 52 13 20 GFOD1 0 genome.wustl.edu 37 6 13365792 13365792 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 13365792 13365792 C T SNP GFOD1 ENST00000379287 human ensembl 74_37 -1 known missense c.356 p.G119D 1.000 NULL pfam_Oxidoreductase_N,pfam_OxRdtase_C - no_errors GFOD1 HGNC ENSG00000145990 273 0 0 143 11 7.14286 MAP3K5 0 genome.wustl.edu 37 6 136913728 136913728 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 136913728 136913728 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.2903 p.P968L 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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 MAP3K5 HGNC ENSG00000197442 145 0 0 66 36 35.2941 MAP3K5 0 genome.wustl.edu 37 6 136977530 136977530 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 136977530 136977530 G A SNP MAP3K5 ENST00000359015 human ensembl 74_37 -1 known missense c.1595 p.P532L 0.983 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,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 MAP3K5 HGNC ENSG00000197442 250 0 0 175 15 7.89474 TNFAIP3 0 genome.wustl.edu 37 6 138200209 138200209 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 138200209 138200209 A G SNP TNFAIP3 ENST00000237289 human ensembl 74_37 +1 known missense c.1627 p.T543A 1.000 NULL pfam_Znf_A20,pfam_OTU,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors TNFAIP3 HGNC ENSG00000118503 158 0 0 68 28 29.1667 HIVEP2 0 genome.wustl.edu 37 6 143093511 143093511 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 143093511 143093511 G T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.2365 p.L789I 0.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 121 0 0 69 8 10.3896 PEX3 0 genome.wustl.edu 37 6 143793410 143793410 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 143793410 143793410 A G SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known missense c.692 p.K231R 0.331 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 144 0 0 78 23 22.7723 STXBP5 0 genome.wustl.edu 37 6 147635760 147635760 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 147635760 147635760 G A SNP STXBP5 ENST00000321680 human ensembl 74_37 +1 known missense c.1390 p.D464N 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Lethal2_giant pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 95 0 0 52 5 8.77193 SASH1 0 genome.wustl.edu 37 6 148853986 148853986 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 148853986 148853986 A G SNP SASH1 ENST00000367467 human ensembl 74_37 +1 known missense c.1618 p.K540E 1.000 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 204 0 0 129 13 9.15493 ZC3H12D 0 genome.wustl.edu 37 6 149777991 149777991 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 149777991 149777991 T C SNP ZC3H12D ENST00000389942 human ensembl 74_37 -1 known missense c.491 p.Y164C 0.999 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12 - no_errors ZC3H12D HGNC ENSG00000178199 77 0 0 43 10 18.8679 IYD 0 genome.wustl.edu 37 6 150715265 150715265 + Silent SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 150715265 150715265 T A SNP IYD ENST00000229447 human ensembl 74_37 +1 known silent c.561 p.T187 0.783 pfam_Nitroreductase-like,superfamily_Nitroreductase-like pfam_Nitroreductase-like,superfamily_Nitroreductase-like - no_errors IYD HGNC ENSG00000009765 136 0 0 82 5 5.74713 RMND1 0 genome.wustl.edu 37 6 151766783 151766783 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 151766783 151766783 G A SNP RMND1 ENST00000367303 human ensembl 74_37 -1 known missense c.164 p.P55L 0.773 NULL pfam_DUF155 - no_errors RMND1 HGNC ENSG00000155906 298 0 0 157 59 27.3148 SYNE1 0 genome.wustl.edu 37 6 152469422 152469422 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 152469422 152469422 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.24734 p.A8245V 0.482 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 96 0 0 48 25 34.2466 SYNE1 0 genome.wustl.edu 37 6 152557373 152557373 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 152557373 152557373 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.20265 p.R6755 0.958 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 187 0 0 95 5 5 SYNE1 0 genome.wustl.edu 37 6 152652220 152652220 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 152652220 152652220 C T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.13600 p.G4534R 0.064 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 473 0 0 218 83 27.5748 SYNE1 0 genome.wustl.edu 37 6 152718065 152718065 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 152718065 152718065 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.7401 p.T2467 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 219 0 0 114 41 26.4516 SYNE1 0 genome.wustl.edu 37 6 152847248 152847248 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 152847248 152847248 A G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known silent c.192 p.L64 0.576 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 104 0 0 49 22 30.9859 JARID2 0 genome.wustl.edu 37 6 15496925 15496925 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 15496925 15496925 C T SNP JARID2 ENST00000341776 human ensembl 74_37 +1 known missense c.1469 p.P490L 0.999 NULL pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_TF_JmjN,pfam_Znf_C5HC2,superfamily_ARID/BRIGHT_DNA-bd,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_ARID/BRIGHT_DNA-bd - no_errors JARID2 HGNC ENSG00000008083 106 0 0 59 13 18.0556 SCAF8 0 genome.wustl.edu 37 6 155154296 155154296 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 155154296 155154296 G T SNP SCAF8 ENST00000367186 human ensembl 74_37 +1 known missense c.3781 p.V1261F 1.000 NULL pfam_RNA_pol_II-bd,pfam_RRM_dom,superfamily_ENTH_VHS,smart_CID_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SCAF8 HGNC ENSG00000213079 116 1 0.854701 75 11 12.7907 CLDN20 0 genome.wustl.edu 37 6 155596891 155596891 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 155596891 155596891 T C SNP CLDN20 ENST00000367165 human ensembl 74_37 +1 known missense c.38 p.L13P 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN20 HGNC ENSG00000171217 244 0 0 147 18 10.9091 DTNBP1 0 genome.wustl.edu 37 6 15638027 15638027 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 15638027 15638027 T A SNP DTNBP1 ENST00000355917 human ensembl 74_37 -1 known missense c.170 p.D57V 1.000 NULL pfam_Dysbindin,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors DTNBP1 HGNC ENSG00000047579 123 0 0 70 9 11.3924 WTAP 0 genome.wustl.edu 37 6 160164712 160164712 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 160164712 160164712 G A SNP WTAP ENST00000358372 human ensembl 74_37 +1 known missense c.161 p.G54D 0.992 NULL NULL - no_errors WTAP HGNC ENSG00000146457 101 0 0 58 7 10.7692 LPAL2 0 genome.wustl.edu 37 6 160903847 160903847 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 160903847 160903847 T C SNP LPAL2 ENST00000335388 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LPAL2 HGNC ENSG00000213071 274 0 0 180 25 12.1951 LPA 0 genome.wustl.edu 37 6 161032713 161032713 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 161032713 161032713 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.2484 p.H828 0.059 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 241 0 0 127 53 29.4444 LPA 0 genome.wustl.edu 37 6 161054904 161054904 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 161054904 161054904 G A SNP LPA ENST00000316300 human ensembl 74_37 -1 known silent c.1116 p.H372 0.047 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors LPA HGNC ENSG00000198670 241 0 0 164 19 10.3825 PLG 0 genome.wustl.edu 37 6 161152266 161152266 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 161152266 161152266 T C SNP PLG ENST00000308192 human ensembl 74_37 +1 known splice_site c.1438+2 e11+2 0.000 - - - no_errors PLG HGNC ENSG00000122194 91 0 0 48 13 21.3115 MYLIP 0 genome.wustl.edu 37 6 16143397 16143397 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 16143397 16143397 T C SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.611 p.V204A 0.998 pfscan_FERM_domain,prints_Ez/rad/moesin_like 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 229 0 0 171 15 8.06452 MYLIP 0 genome.wustl.edu 37 6 16145537 16145537 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 16145537 16145537 G A SNP MYLIP ENST00000356840 human ensembl 74_37 +1 known missense c.1237 p.A413T 0.122 pfscan_Znf_RING 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 183 0 0 98 37 27.4074 MAP3K4 0 genome.wustl.edu 37 6 161502018 161502018 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 161502018 161502018 G A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.2203 p.E735K 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 MAP3K4 HGNC ENSG00000085511 72 0 0 55 13 19.1176 MAP3K4 0 genome.wustl.edu 37 6 161527693 161527693 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 161527693 161527693 G A SNP MAP3K4 ENST00000392142 human ensembl 74_37 +1 known missense c.4004 p.G1335D 0.552 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 MAP3K4 HGNC ENSG00000085511 194 0 0 93 57 38 ATXN1 0 genome.wustl.edu 37 6 16328417 16328417 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 16328417 16328417 C T SNP ATXN1 ENST00000244769 human ensembl 74_37 -1 known missense c.125 p.G42D 0.795 NULL pfam_Ataxin-1_HBP1,pfam_Capicua_tscrpt_rep_mod,superfamily_Ataxin-1_HBP1,smart_Ataxin_AXH_dom,pfscan_Ataxin-1_HBP1 - no_errors ATXN1 HGNC ENSG00000124788 232 0 0 140 28 16.6667 MLLT4 0 genome.wustl.edu 37 6 168348992 168348992 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 168348992 168348992 G A SNP MLLT4 ENST00000366806 human ensembl 74_37 +1 known missense c.3644 p.R1215K 0.891 NULL pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 151 0 0 93 11 10.5769 PDCD2 0 genome.wustl.edu 37 6 170889180 170889180 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 170889180 170889180 C T SNP PDCD2 ENST00000541970 human ensembl 74_37 -1 known silent c.672 p.E224 1.000 pfam_PDCD2_C pfam_PDCD2_C,pfam_Znf_MYND,pfscan_Znf_MYND - no_errors PDCD2 HGNC ENSG00000071994 84 0 0 40 15 27.2727 NUP153 0 genome.wustl.edu 37 6 17626217 17626217 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 17626217 17626217 A G SNP NUP153 ENST00000537253 human ensembl 74_37 -1 known silent c.3816 p.G1272 0.777 NULL pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2 - no_errors NUP153 HGNC ENSG00000124789 97 0 0 66 4 5.71429 NHLRC1 0 genome.wustl.edu 37 6 18122829 18122829 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 18122829 18122829 G A SNP NHLRC1 ENST00000340650 human ensembl 74_37 -1 known silent c.9 p.A3 0.018 NULL smart_Znf_RING,pfscan_NHL_repeat_subgr,pfscan_Znf_RING - no_errors NHLRC1 HGNC ENSG00000187566 17 0 0 11 4 26.6667 CDKAL1 0 genome.wustl.edu 37 6 20846385 20846385 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 20846385 20846385 G A SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.718 p.D240N 0.998 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 84 0 0 54 20 27.027 HIST1H1E 0 genome.wustl.edu 37 6 26157199 26157199 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 26157199 26157199 T C SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.581 p.V194A 0.999 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 65 0 0 55 7 11.2903 HIST1H2BD 0 genome.wustl.edu 37 6 26158753 26158753 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 26158753 26158753 T A SNP HIST1H2BD ENST00000289316 human ensembl 74_37 +1 known missense c.356 p.V119D 1.000 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 HIST1H2BD HGNC ENSG00000158373 193 0 0 85 17 16.6667 HIST1H3E 0 genome.wustl.edu 37 6 26225698 26225698 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 26225698 26225698 G A SNP HIST1H3E ENST00000360408 human ensembl 74_37 +1 known missense c.316 p.E106K 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 175 0 0 39 45 53.5714 BTN2A1 0 genome.wustl.edu 37 6 26468337 26468337 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 26468337 26468337 G T SNP BTN2A1 ENST00000312541 human ensembl 74_37 +1 known missense c.1144 p.A382S 0.140 superfamily_ConA-like_lec_gl_sf,smart_PRY,prints_Butyrophylin,pfscan_B30.2/SPRY 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 BTN2A1 HGNC ENSG00000112763 258 1 0.3861 61 51 45.5357 MYLK4 0 genome.wustl.edu 37 6 2683360 2683360 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 2683360 2683360 A G SNP MYLK4 ENST00000268446 human ensembl 74_37 -1 known silent c.582 p.D194 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 MYLK4 HGNC ENSG00000145949 123 0 0 51 33 39.2857 HIST1H2BL 0 genome.wustl.edu 37 6 27775413 27775413 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 27775413 27775413 G A SNP HIST1H2BL ENST00000377401 human ensembl 74_37 -1 known missense c.272 p.T91I 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 HIST1H2BL HGNC ENSG00000185130 225 0 0 76 9 10.5882 HIST1H1B 0 genome.wustl.edu 37 6 27834749 27834749 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 27834749 27834749 T C SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known missense c.559 p.T187A 0.220 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 191 0 0 52 38 42.2222 ZKSCAN4 0 genome.wustl.edu 37 6 28213206 28213206 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 28213206 28213206 C T SNP ZKSCAN4 ENST00000377294 human ensembl 74_37 -1 known silent c.1326 p.R442 0.348 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZKSCAN4 HGNC ENSG00000187626 243 0 0 95 11 10.3774 HLA-F 0 genome.wustl.edu 37 6 29692222 29692222 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 29692222 29692222 G A SNP HLA-F ENST00000259951 human ensembl 74_37 +1 known missense c.607 p.A203T 0.713 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 64 0 0 20 14 41.1765 HLA-A 0 genome.wustl.edu 37 6 29911191 29911191 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 29911191 29911191 G A SNP HLA-A ENST00000376806 human ensembl 74_37 +1 known missense c.490 p.A164T 0.977 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog 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 50 0 0 22 6 21.4286 HLA-C 0 genome.wustl.edu 37 6 31239472 31239472 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 31239472 31239472 A G SNP HLA-C ENST00000383329 human ensembl 74_37 -1 known missense c.247 p.Y83H 0.785 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 99 0 0 28 22 44 PRRC2A 0 genome.wustl.edu 37 6 31599957 31599957 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 31599957 31599957 C T SNP PRRC2A ENST00000376007 human ensembl 74_37 +1 known silent c.3507 p.R1169 0.111 NULL pfam_BAT2_N - no_errors PRRC2A HGNC ENSG00000204469 103 0 0 18 28 60.8696 VARS 0 genome.wustl.edu 37 6 31745321 31745321 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 31745321 31745321 C T SNP VARS ENST00000470953 human ensembl 74_37 -1 putative rna NULL NULL 0.986 - - - no_errors VARS HGNC ENSG00000204394 64 0 0 26 4 13.3333 PBX2 0 genome.wustl.edu 37 6 32156218 32156218 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 32156218 32156218 T C SNP PBX2 ENST00000375050 human ensembl 74_37 -1 known missense c.359 p.N120S 1.000 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX2 HGNC ENSG00000204304 129 0 0 24 21 46.6667 HLA-DQA2 0 genome.wustl.edu 37 6 32713800 32713800 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 32713800 32713800 C T SNP HLA-DQA2 ENST00000374940 human ensembl 74_37 +1 known silent c.564 p.D188 1.000 pfam_Ig_C1-set,pfam_CD80_C2-set,smart_Ig_C1-set,pfscan_Ig-like_dom 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 317 0 0 77 73 48.6667 TAP2 0 genome.wustl.edu 37 6 32803014 32803014 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 32803014 32803014 T C SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.862 p.I288V 0.395 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,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 79 0 0 31 3 8.82353 TAP2 0 genome.wustl.edu 37 6 32805593 32805593 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 32805593 32805593 T C SNP TAP2 ENST00000374897 human ensembl 74_37 -1 known missense c.418 p.R140G 0.991 superfamily_ABC1_TM_dom,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 120 0 0 39 14 26.4151 PSMB8 0 genome.wustl.edu 37 6 32810470 32810470 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 32810470 32810470 C T SNP PSMB8 ENST00000374882 human ensembl 74_37 -1 known missense c.386 p.R129H 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 97 0 0 21 16 43.2432 DAXX 0 genome.wustl.edu 37 6 33287839 33287839 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 33287839 33287839 C T SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.1414 p.E472K 0.997 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 52 0 0 16 10 38.4615 ITPR3 0 genome.wustl.edu 37 6 33634993 33634993 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 33634993 33634993 G A SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.1639 p.A547T 1.000 pfam_Ca-rel_channel pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 116 0 0 54 5 8.47458 FANCE 0 genome.wustl.edu 37 6 35423675 35423675 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 35423675 35423675 C T SNP FANCE ENST00000229769 human ensembl 74_37 +1 known missense c.400 p.R134C 0.008 NULL pfam_Fanconi_anaemia_gr_E_prot_C - no_errors FANCE HGNC ENSG00000112039 123 0 0 29 35 54.6875 TULP1 0 genome.wustl.edu 37 6 35471339 35471339 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 35471339 35471339 T C SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known silent c.1320 p.R440 0.980 pfam_Tubby_C,superfamily_Tubby_C-like pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 14 0 0 0 4 100 CDKN1A 0 genome.wustl.edu 37 6 36651993 36651993 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 36651993 36651993 G A SNP CDKN1A ENST00000448526 human ensembl 74_37 +1 known missense c.217 p.A73T 0.997 pfam_CDI pfam_CDI - no_errors CDKN1A HGNC ENSG00000124762 93 0 0 44 10 18.5185 MTCH1 0 genome.wustl.edu 37 6 36946377 36946377 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 36946377 36946377 G A SNP MTCH1 ENST00000373627 human ensembl 74_37 -1 known silent c.417 p.I139 0.199 superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 197 0 0 46 43 48.3146 MDGA1 0 genome.wustl.edu 37 6 37623659 37623659 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 37623659 37623659 T C SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known silent c.396 p.P132 0.001 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 29 0 0 9 8 47.0588 FAM50B 0 genome.wustl.edu 37 6 3850929 3850929 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 3850929 3850929 G A SNP FAM50B ENST00000380272 human ensembl 74_37 +1 novel missense c.884 p.R295H 1.000 pfam_XAP5 pfam_XAP5 - no_errors FAM50B HGNC ENSG00000145945 142 0 0 57 31 35.2273 GLO1 0 genome.wustl.edu 37 6 38650639 38650639 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 38650639 38650639 A G SNP GLO1 ENST00000373365 human ensembl 74_37 -1 known silent c.321 p.T107 0.980 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1 - no_errors GLO1 HGNC ENSG00000124767 109 0 0 35 23 39.6552 DNAH8 0 genome.wustl.edu 37 6 38743627 38743627 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 38743627 38743627 A G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.1211 p.Y404C 0.998 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 167 0 0 68 4 5.55556 DNAH8 0 genome.wustl.edu 37 6 38838249 38838249 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 38838249 38838249 A G SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.6250 p.T2084A 0.037 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 159 0 0 81 5 5.81395 DNAH8 0 genome.wustl.edu 37 6 38840893 38840893 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 38840893 38840893 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known silent c.6798 p.S2266 0.997 smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 176 0 0 83 14 14.433 DNAH8 0 genome.wustl.edu 37 6 38913267 38913267 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 38913267 38913267 C T SNP DNAH8 ENST00000359357 human ensembl 74_37 +1 known missense c.11381 p.A3794V 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH8 HGNC ENSG00000124721 201 0 0 49 39 44.3182 LRFN2 0 genome.wustl.edu 37 6 40359769 40359769 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 40359769 40359769 G A SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known silent c.2283 p.G761 1.000 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 96 0 0 33 19 36.5385 LRFN2 0 genome.wustl.edu 37 6 40399694 40399694 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 40399694 40399694 T C SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.1159 p.S387G 0.996 NULL pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN2 HGNC ENSG00000156564 105 0 0 41 8 16.3265 PRPF4B 0 genome.wustl.edu 37 6 4044165 4044165 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 4044165 4044165 C T SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known missense c.1769 p.A590V 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 PRPF4B HGNC ENSG00000112739 187 0 0 110 54 32.9268 PRPF4B 0 genome.wustl.edu 37 6 4060797 4060797 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 4060797 4060797 C T SNP PRPF4B ENST00000337659 human ensembl 74_37 +1 known nonsense c.2971 p.R991* 1.000 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PRPF4B HGNC ENSG00000112739 89 0 0 34 14 29.1667 UNC5CL 0 genome.wustl.edu 37 6 40996272 40996272 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 40996272 40996272 C T SNP UNC5CL ENST00000244565 human ensembl 74_37 -1 known missense c.1397 p.G466D 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_ZU5,pfam_Death_domain,superfamily_DEATH-like_dom,smart_ZU5,smart_Death_domain,pfscan_Death_domain,pfscan_ZU5 - no_errors UNC5CL HGNC ENSG00000124602 119 0 0 48 9 15.7895 NCR2 0 genome.wustl.edu 37 6 41303947 41303947 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 41303947 41303947 T A SNP NCR2 ENST00000373089 human ensembl 74_37 +1 known missense c.175 p.S59T 0.001 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR2 HGNC ENSG00000096264 89 0 0 38 8 17.3913 NCR2 0 genome.wustl.edu 37 6 41309564 41309564 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 41309564 41309564 C T SNP NCR2 ENST00000373089 human ensembl 74_37 +1 known missense c.427 p.R143C 0.003 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NCR2 HGNC ENSG00000096264 190 1 0.52356 43 33 43.4211 GLTSCR1L 0 genome.wustl.edu 37 6 42797264 42797264 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 42797264 42797264 A G SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.1193 p.Q398R 0.999 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 787 0 0 623 38 5.74887 GLTSCR1L 0 genome.wustl.edu 37 6 42797872 42797872 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 42797872 42797872 A G SNP GLTSCR1L ENST00000314073 human ensembl 74_37 +1 known missense c.1801 p.T601A 0.959 NULL NULL - no_errors GLTSCR1L HGNC ENSG00000112624 175 0 0 137 14 9.27152 CUL9 0 genome.wustl.edu 37 6 43155501 43155501 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 43155501 43155501 C T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known silent c.1632 p.A544 0.304 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_Znf_C6HC,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,superfamily_UBA-like,smart_Cullin_neddylation_domain,smart_Znf_C6HC,pfscan_Znf_RING,pfscan_Cullin_homology - no_errors CUL9 HGNC ENSG00000112659 237 0 0 107 60 35.9281 ZNF318 0 genome.wustl.edu 37 6 43305768 43305768 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 43305768 43305768 T C SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.5968 p.T1990A 0.843 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 278 0 0 181 12 6.21762 ZNF318 0 genome.wustl.edu 37 6 43305890 43305890 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 43305890 43305890 T C SNP ZNF318 ENST00000361428 human ensembl 74_37 -1 known missense c.5846 p.Q1949R 0.003 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 200 0 0 141 10 6.62252 GTPBP2 0 genome.wustl.edu 37 6 43594698 43594698 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 43594698 43594698 A G SNP GTPBP2 ENST00000476510 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors GTPBP2 HGNC ENSG00000172432 142 0 0 74 28 27.451 MEP1A 0 genome.wustl.edu 37 6 46800870 46800870 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 46800870 46800870 C T SNP MEP1A ENST00000230588 human ensembl 74_37 +1 known missense c.1204 p.R402C 1.000 pirsf_Pept_M12A_Meprin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,prints_MAM_dom,pfscan_MAM_dom pirsf_Pept_M12A_Meprin,pfam_Peptidase_M12A,pfam_MATH,pfam_MAM_dom,pfam_EG-like_dom,superfamily_TRAF-like,superfamily_ConA-like_lec_gl_sf,smart_Peptidase_Metallo,smart_MAM_dom,smart_MATH,prints_Peptidase_M12A,prints_MAM_dom,pfscan_EG-like_dom,pfscan_MATH,pfscan_MAM_dom - no_errors MEP1A HGNC ENSG00000112818 212 0 0 150 9 5.66038 CDYL 0 genome.wustl.edu 37 6 4892220 4892220 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 4892220 4892220 G A SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.460 p.V154M 0.956 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 220 0 0 97 42 30.2158 LRRC1 0 genome.wustl.edu 37 6 53785559 53785559 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 53785559 53785559 G T SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known silent c.1416 p.T472 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 103 0 0 52 25 32.4675 GFRAL 0 genome.wustl.edu 37 6 55214923 55214923 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 55214923 55214923 T C SNP GFRAL ENST00000340465 human ensembl 74_37 +1 known missense c.350 p.L117P 0.012 NULL pfam_GDNF/GAS1,smart_GDNF/GAS1 - no_errors GFRAL HGNC ENSG00000187871 47 0 0 18 9 33.3333 BAG2 0 genome.wustl.edu 37 6 57048631 57048631 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 57048631 57048631 C T SNP BAG2 ENST00000370693 human ensembl 74_37 +1 known silent c.279 p.T93 0.004 NULL pfam_BAG_domain,smart_BAG_domain,pfscan_BAG_domain - no_errors BAG2 HGNC ENSG00000112208 228 0 0 98 50 33.7838 OGFRL1 0 genome.wustl.edu 37 6 72011356 72011356 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 72011356 72011356 G A SNP OGFRL1 ENST00000370435 human ensembl 74_37 +1 known silent c.960 p.S320 0.000 pfam_OGF_rcpt pfam_OGF_rcpt - no_errors OGFRL1 HGNC ENSG00000119900 132 0 0 58 35 37.6344 RREB1 0 genome.wustl.edu 37 6 7231269 7231269 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 7231269 7231269 T C SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known silent c.2937 p.L979 0.721 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 74 0 0 35 2 5.40541 RREB1 0 genome.wustl.edu 37 6 7231588 7231588 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 7231588 7231588 G A SNP RREB1 ENST00000379938 human ensembl 74_37 +1 known missense c.3256 p.V1086M 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors RREB1 HGNC ENSG00000124782 145 0 0 79 26 24.7619 KCNQ5 0 genome.wustl.edu 37 6 73787213 73787213 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 73787213 73787213 A G SNP KCNQ5 ENST00000402622 human ensembl 74_37 +1 known missense c.785 p.H262R 1.000 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ5 HGNC ENSG00000185760 41 0 0 35 3 7.89474 KHDC3L 0 genome.wustl.edu 37 6 74072843 74072843 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 74072843 74072843 C T SNP KHDC3L ENST00000370367 human ensembl 74_37 +1 known silent c.195 p.H65 0.000 NULL NULL - no_errors KHDC3L HGNC ENSG00000203908 194 0 0 71 30 29.703 MB21D1 0 genome.wustl.edu 37 6 74138431 74138431 + Splice_Site SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 74138431 74138431 C A SNP MB21D1 ENST00000370315 human ensembl 74_37 -1 known splice_site c.1217+1 e4+1 1.000 - - - no_errors MB21D1 HGNC ENSG00000164430 89 0 0 45 15 25 CD109 0 genome.wustl.edu 37 6 74517820 74517820 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 74517820 74517820 G A SNP CD109 ENST00000287097 human ensembl 74_37 +1 known silent c.3204 p.V1068 0.116 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 92 0 0 33 12 26.6667 TXNDC5 0 genome.wustl.edu 37 6 7904900 7904900 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 7904900 7904900 T C SNP TXNDC5 ENST00000379757 human ensembl 74_37 -1 known missense c.320 p.N107S 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase - no_errors TXNDC5 HGNC ENSG00000239264 100 0 0 71 6 7.79221 PHIP 0 genome.wustl.edu 37 6 79726343 79726343 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 79726343 79726343 G A SNP PHIP ENST00000275034 human ensembl 74_37 -1 known missense c.1153 p.R385C 0.995 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 221 0 0 95 42 30.6569 SH3BGRL2 0 genome.wustl.edu 37 6 80406276 80406276 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 80406276 80406276 A G SNP SH3BGRL2 ENST00000369838 human ensembl 74_37 +1 known silent c.306 p.A102 0.998 NULL pfam_Glut_rich_SH3-bd,pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold - no_errors SH3BGRL2 HGNC ENSG00000198478 182 0 0 88 38 30.1587 EEF1E1 0 genome.wustl.edu 37 6 8090483 8090483 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 8090483 8090483 T C SNP EEF1E1 ENST00000379715 human ensembl 74_37 -1 known missense c.320 p.Y107C 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like - no_errors EEF1E1 HGNC ENSG00000124802 75 0 0 56 3 5.08475 TPBG 0 genome.wustl.edu 37 6 83075864 83075864 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 83075864 83075864 A G SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.1186 p.M396V 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors TPBG HGNC ENSG00000146242 144 0 0 84 56 40 DOPEY1 0 genome.wustl.edu 37 6 83838791 83838791 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 83838791 83838791 C A SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known silent c.1905 p.S635 0.990 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 213 0 0 125 11 8.08824 PGM3 0 genome.wustl.edu 37 6 83891632 83891632 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 83891632 83891632 C T SNP PGM3 ENST00000513973 human ensembl 74_37 -1 known missense c.610 p.E204K 0.946 pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,pirsf_PAGM - no_errors PGM3 HGNC ENSG00000013375 129 0 0 56 21 27.2727 RWDD2A 0 genome.wustl.edu 37 6 83905673 83905673 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 83905673 83905673 C T SNP RWDD2A ENST00000369724 human ensembl 74_37 +1 known silent c.561 p.C187 1.000 pfam_DUF1115,pirsf_UCP038021_RWD pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain - no_errors RWDD2A HGNC ENSG00000013392 208 0 0 143 9 5.92105 ME1 0 genome.wustl.edu 37 6 83926226 83926226 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 83926226 83926226 A G SNP ME1 ENST00000369705 human ensembl 74_37 -1 known silent c.1539 p.I513 0.970 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME1 HGNC ENSG00000065833 199 0 0 151 9 5.625 SLC35B3 0 genome.wustl.edu 37 6 8428136 8428136 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 8428136 8428136 T C SNP SLC35B3 ENST00000426876 human ensembl 74_37 -1 known silent c.651 p.L217 0.000 NULL pfam_UAA - no_errors SLC35B3 HGNC ENSG00000124786 156 0 0 61 46 42.9907 SLC35B3 0 genome.wustl.edu 37 6 8430202 8430202 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 8430202 8430202 G A SNP SLC35B3 ENST00000379660 human ensembl 74_37 -1 known silent c.192 p.D64 0.598 NULL pfam_UAA - no_errors SLC35B3 HGNC ENSG00000124786 97 0 0 42 18 30 GABRR1 0 genome.wustl.edu 37 6 89888623 89888623 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 89888623 89888623 G A SNP GABRR1 ENST00000454853 human ensembl 74_37 -1 known missense c.1306 p.P436S 0.008 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho1_rcpt,prints_Neur_channel,prints_GABAAa_rho_rcpt,tigrfam_Neur_channel - no_errors GABRR1 HGNC ENSG00000146276 333 0 0 154 54 25.9615 GABRR2 0 genome.wustl.edu 37 6 90024914 90024914 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 90024914 90024914 C A SNP GABRR2 ENST00000602399 human ensembl 74_37 -1 known missense c.46 p.A16S 0.077 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAa_rho2_rcpt,prints_GABAAa_rho_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRR2 HGNC ENSG00000111886 505 1 0.197628 228 110 32.5444 MDN1 0 genome.wustl.edu 37 6 90409955 90409955 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 90409955 90409955 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.8697 p.S2899 0.552 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 198 0 0 102 6 5.55556 MDN1 0 genome.wustl.edu 37 6 90428119 90428119 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 90428119 90428119 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.6549 p.R2183 0.986 superfamily_P-loop_NTPase,smart_AAA+_ATPase,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 142 0 0 91 12 11.6505 MDN1 0 genome.wustl.edu 37 6 90504397 90504397 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 90504397 90504397 T C SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.453 p.A151 0.951 superfamily_ARM-type_fold,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 133 0 0 70 24 25.5319 BACH2 0 genome.wustl.edu 37 6 90660168 90660168 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 90660168 90660168 C T SNP BACH2 ENST00000257749 human ensembl 74_37 -1 known missense c.1657 p.G553R 1.000 NULL pfam_BTB_POZ,pfam_bZIP,superfamily_BTB/POZ_fold,superfamily_TF_DNA-bd,smart_BTB/POZ-like,smart_bZIP,pfscan_BTB/POZ-like,pfscan_bZIP - no_errors BACH2 HGNC ENSG00000112182 170 0 0 89 37 29.3651 MAP3K7 0 genome.wustl.edu 37 6 91263240 91263240 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 91263240 91263240 G A SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known missense c.673 p.R225C 1.000 pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 252 0 0 118 50 29.7619 MAP3K7 0 genome.wustl.edu 37 6 91269917 91269917 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 91269917 91269917 T C SNP MAP3K7 ENST00000369329 human ensembl 74_37 -1 known silent c.360 p.E120 0.997 pirsf_MAPKKK7,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_MAPKKK7,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K7 HGNC ENSG00000135341 128 0 0 50 31 38.2716 OFCC1 0 genome.wustl.edu 37 6 9933117 9933117 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 9933117 9933117 C T SNP OFCC1 ENST00000316020 human ensembl 74_37 -1 known missense c.346 p.D116N 0.998 NULL NULL - no_errors OFCC1 HGNC ENSG00000181355 563 0 0 302 123 28.9412 USP45 0 genome.wustl.edu 37 6 99894017 99894017 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 99894017 99894017 T C SNP USP45 ENST00000327681 human ensembl 74_37 -1 known missense c.1631 p.Y544C 0.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,superfamily_Znf_FYVE_PHD,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP45 HGNC ENSG00000123552 108 0 0 76 25 24.7525 AGFG2 0 genome.wustl.edu 37 7 100160555 100160555 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100160555 100160555 A C SNP AGFG2 ENST00000300176 human ensembl 74_37 +1 known missense c.1157 p.N386T 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 66 0 0 39 10 20.4082 LRCH4 0 genome.wustl.edu 37 7 100172795 100172795 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100172795 100172795 C T SNP LRCH4 ENST00000310300 human ensembl 74_37 -1 known missense c.1987 p.V663I 0.001 NULL pfam_Leu-rich_rpt,pfam_CH-domain,superfamily_CH-domain,smart_Leu-rich_rpt_typical-subtyp,smart_CH-domain,pfscan_CH-domain - no_errors LRCH4 HGNC ENSG00000077454 33 0 0 28 6 17.6471 TFR2 0 genome.wustl.edu 37 7 100218519 100218519 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100218519 100218519 C T SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known silent c.2367 p.A789 0.675 pfam_TFR-like_dimer_dom,superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 93 0 0 46 18 28.125 GIGYF1 0 genome.wustl.edu 37 7 100285025 100285025 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100285025 100285025 G A SNP GIGYF1 ENST00000275732 human ensembl 74_37 -1 known silent c.378 p.R126 0.430 NULL pfam_GYF,superfamily_GYF,smart_GYF,pfscan_GYF - no_errors GIGYF1 HGNC ENSG00000146830 327 1 0.304878 184 76 29.2308 ZAN 0 genome.wustl.edu 37 7 100352870 100352870 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100352870 100352870 G A SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.3146 p.R1049H 1.000 pfam_TIL_dom,superfamily_TIL_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 287 0 0 169 66 28.0851 EPHB4 0 genome.wustl.edu 37 7 100414922 100414922 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100414922 100414922 G A SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known silent c.1480 p.L494 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,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 EPHB4 HGNC ENSG00000196411 29 0 0 13 9 40.9091 MUC17 0 genome.wustl.edu 37 7 100684691 100684691 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100684691 100684691 A G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.9994 p.T3332A 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 687 0 0 359 176 32.8972 ZNHIT1 0 genome.wustl.edu 37 7 100866977 100866977 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100866977 100866977 T C SNP ZNHIT1 ENST00000305105 human ensembl 74_37 +1 known silent c.297 p.P99 0.988 NULL pfam_Znf_HIT,pfscan_Znf_HIT - no_errors ZNHIT1 HGNC ENSG00000106400 197 0 0 73 29 28.4314 DNAJC2 0 genome.wustl.edu 37 7 102962467 102962467 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 102962467 102962467 C T SNP DNAJC2 ENST00000379263 human ensembl 74_37 -1 known missense c.995 p.R332K 1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 211 0 0 125 10 7.40741 KMT2E 0 genome.wustl.edu 37 7 104707214 104707214 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 104707214 104707214 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known missense c.457 p.H153Y 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 217 0 0 148 23 13.4503 PIK3CG 0 genome.wustl.edu 37 7 106513320 106513320 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 106513320 106513320 T C SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known silent c.2224 p.L742 1.000 superfamily_Kinase-like_dom 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 166 0 0 74 42 36.2069 GPR22 0 genome.wustl.edu 37 7 107114677 107114677 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 107114677 107114677 A G SNP GPR22 ENST00000304402 human ensembl 74_37 +1 known missense c.172 p.S58G 1.000 pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR22 HGNC ENSG00000172209 254 0 0 166 19 10.2703 C7orf60 0 genome.wustl.edu 37 7 112535788 112535788 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 112535788 112535788 G A SNP C7orf60 ENST00000297145 human ensembl 74_37 -1 known silent c.309 p.C103 1.000 NULL pfam_DUF3321 - no_errors C7orf60 HGNC ENSG00000164603 99 0 0 62 4 6.06061 PPP1R3A 0 genome.wustl.edu 37 7 113558625 113558625 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 113558625 113558625 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.427 p.K143E 1.000 pfam_CBM_21,pfscan_CBM_21 pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 133 0 0 77 27 25.9615 CAV1 0 genome.wustl.edu 37 7 116199315 116199315 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 116199315 116199315 C T SNP CAV1 ENST00000341049 human ensembl 74_37 +1 known missense c.511 p.R171C 1.000 pfam_Caveolin pfam_Caveolin - no_errors CAV1 HGNC ENSG00000105974 142 0 0 61 18 22.7848 ST7 0 genome.wustl.edu 37 7 116849978 116849978 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 116849978 116849978 T C SNP ST7 ENST00000393443 human ensembl 74_37 +1 known splice_site c.1171+2 e12+2 1.000 - - - no_errors ST7 HGNC ENSG00000004866 124 0 0 59 23 28.0488 CTTNBP2 0 genome.wustl.edu 37 7 117374995 117374995 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 117374995 117374995 C A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.3848 p.R1283M 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 95 0 0 50 16 24.2424 CTTNBP2 0 genome.wustl.edu 37 7 117432544 117432544 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 117432544 117432544 T A SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known missense c.706 p.T236S 1.000 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 105 0 0 66 5 7.04225 PTPRZ1 0 genome.wustl.edu 37 7 121651002 121651002 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 121651002 121651002 A G SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.1902 p.S634 0.001 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 113 0 0 61 17 21.7949 SLC13A1 0 genome.wustl.edu 37 7 122821124 122821124 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 122821124 122821124 A G SNP SLC13A1 ENST00000194130 human ensembl 74_37 -1 known missense c.131 p.V44A 0.022 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A1 HGNC ENSG00000081800 107 0 0 50 16 24.2424 POT1 0 genome.wustl.edu 37 7 124467346 124467346 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 124467346 124467346 T C SNP POT1 ENST00000607932 human ensembl 74_37 -1 known missense c.1519 p.T507A 0.988 NULL pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 48 0 0 36 4 10 POT1 0 genome.wustl.edu 37 7 124482958 124482958 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 124482958 124482958 C T SNP POT1 ENST00000357628 human ensembl 74_37 -1 known missense c.1066 p.A356T 0.988 NULL pfam_Telomer_end-bd_POT1/Cdc13,superfamily_NA-bd_OB-fold,smart_Telomer_end-bd_POT1/Cdc13 - no_errors POT1 HGNC ENSG00000128513 81 0 0 40 13 24.5283 CCDC136 0 genome.wustl.edu 37 7 128441250 128441250 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 128441250 128441250 T C SNP CCDC136 ENST00000297788 human ensembl 74_37 +1 known silent c.357 p.R119 0.892 NULL NULL - no_errors CCDC136 HGNC ENSG00000128596 76 0 0 43 3 6.52174 FLNC 0 genome.wustl.edu 37 7 128486164 128486164 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 128486164 128486164 T C SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.3911 p.V1304A 1.000 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 105 1 0.943396 58 18 23.6842 CPA1 0 genome.wustl.edu 37 7 130021682 130021682 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 130021682 130021682 C T SNP CPA1 ENST00000011292 human ensembl 74_37 +1 known missense c.359 p.A120V 1.000 NULL pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA1 HGNC ENSG00000091704 74 0 0 29 10 25.641 PLXNA4 0 genome.wustl.edu 37 7 131864640 131864640 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 131864640 131864640 T C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.3680 p.Y1227C 1.000 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 34 0 0 23 5 17.8571 PLXNA4 0 genome.wustl.edu 37 7 131895801 131895801 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 131895801 131895801 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known silent c.2199 p.G733 0.986 NULL 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 PLXNA4 HGNC ENSG00000221866 52 0 0 26 8 23.5294 NUP205 0 genome.wustl.edu 37 7 135333276 135333276 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 135333276 135333276 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.6011 p.R2004H 1.000 NULL pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 165 0 0 79 28 26.1682 TMEM213 0 genome.wustl.edu 37 7 138522647 138522647 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 138522647 138522647 C T SNP TMEM213 ENST00000413208 human ensembl 74_37 +1 putative missense c.188 p.A63V 0.000 NULL NULL - no_errors TMEM213 HGNC ENSG00000214128 44 0 0 29 5 14.7059 KIAA1549 0 genome.wustl.edu 37 7 138579128 138579128 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 138579128 138579128 A C SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known missense c.3992 p.F1331C 1.000 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 182 0 0 142 10 6.57895 HIPK2 0 genome.wustl.edu 37 7 139281496 139281496 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 139281496 139281496 T C SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.2684 p.D895G 0.997 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 259 0 0 126 45 26.3158 HIPK2 0 genome.wustl.edu 37 7 139281517 139281517 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 139281517 139281517 A T SNP HIPK2 ENST00000406875 human ensembl 74_37 -1 known missense c.2663 p.I888N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors HIPK2 HGNC ENSG00000064393 245 0 0 101 47 31.7568 ADCK2 0 genome.wustl.edu 37 7 140389471 140389471 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 140389471 140389471 C A SNP ADCK2 ENST00000072869 human ensembl 74_37 +1 known silent c.1632 p.T544 0.932 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK2 HGNC ENSG00000133597 105 0 0 51 17 25 WEE2 0 genome.wustl.edu 37 7 141424039 141424039 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 141424039 141424039 A G SNP WEE2 ENST00000397541 human ensembl 74_37 +1 known silent c.1185 p.G395 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_Wee1-like_protein_kinase,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,pirsf_Wee1-like_protein_kinase,pfscan_Prot_kinase_dom - no_errors WEE2 HGNC ENSG00000214102 212 0 0 104 43 29.2517 OR9A3P 0 genome.wustl.edu 37 7 141562955 141562955 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 141562955 141562955 A G SNP OR9A3P ENST00000482472 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors OR9A3P HGNC ENSG00000240031 30 0 0 16 4 20 TAS2R38 0 genome.wustl.edu 37 7 141672607 141672607 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 141672607 141672607 C T SNP TAS2R38 ENST00000547270 human ensembl 74_37 -1 known missense c.883 p.A295T 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R38 HGNC ENSG00000257138 120 0 0 70 11 13.5802 MGAM 0 genome.wustl.edu 37 7 141805634 141805634 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 141805634 141805634 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.5517 p.T1839 0.001 NULL pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 139 0 0 87 45 34.0909 ENSG00000257743 0 genome.wustl.edu 37 7 141871910 141871910 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 141871910 141871910 T C SNP ENSG00000257743 ENST00000477922 human ensembl 74_37 +1 putative missense c.3364 p.S1122P 0.999 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,superfamily_P_trefoil,smart_P_trefoil - no_errors RP11-1220K2.2 Clone_based_vega_gene ENSG00000257743 9 0 0 8 3 27.2727 TRPV6 0 genome.wustl.edu 37 7 142575704 142575704 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 142575704 142575704 C A SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.204 p.E68D 0.001 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 143 0 0 116 7 5.69106 CNTNAP2 0 genome.wustl.edu 37 7 146829377 146829377 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 146829377 146829377 C A SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.1124 p.P375H 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 288 1 0.346021 198 22 10 DGKB 0 genome.wustl.edu 37 7 14733738 14733738 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 14733738 14733738 T C SNP DGKB ENST00000258767 human ensembl 74_37 -1 known missense c.673 p.T225A 1.000 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKB HGNC ENSG00000136267 18 0 0 7 3 30 CNTNAP2 0 genome.wustl.edu 37 7 148112646 148112646 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 148112646 148112646 A G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.3934 p.M1312V 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 153 1 0.649351 112 7 5.88235 CUL1 0 genome.wustl.edu 37 7 148489850 148489850 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 148489850 148489850 G A SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known silent c.1839 p.Q613 1.000 pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL1 HGNC ENSG00000055130 32 0 0 24 9 27.2727 ZNF786 0 genome.wustl.edu 37 7 148768111 148768111 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 148768111 148768111 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.1753 p.R585C 0.002 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 ZNF786 HGNC ENSG00000197362 75 0 0 27 17 38.6364 ZNF398 0 genome.wustl.edu 37 7 148876131 148876131 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 148876131 148876131 C A SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known silent c.1182 p.S394 0.658 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 356 0 0 177 76 30.0395 ZNF282 0 genome.wustl.edu 37 7 148921393 148921393 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 148921393 148921393 G A SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known missense c.1670 p.C557Y 0.958 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF282 HGNC ENSG00000170265 48 0 0 17 12 41.3793 ZNF862 0 genome.wustl.edu 37 7 149545162 149545162 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 149545162 149545162 G A SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.580 p.A194T 0.986 smart_Znf_TTF pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 81 0 0 30 15 33.3333 ZNF862 0 genome.wustl.edu 37 7 149559482 149559482 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 149559482 149559482 A G SNP ZNF862 ENST00000223210 human ensembl 74_37 +1 known missense c.3233 p.Y1078C 0.968 NULL pfam_Krueppel-associated_box,pfam_HATC_dom_C,superfamily_Krueppel-associated_box,superfamily_RNaseH-like_dom,smart_Krueppel-associated_box,smart_Znf_TTF,pfscan_Krueppel-associated_box - no_errors ZNF862 HGNC ENSG00000106479 52 0 0 15 10 40 ATP6V0E2 0 genome.wustl.edu 37 7 149575849 149575849 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 149575849 149575849 C A SNP ATP6V0E2 ENST00000456496 human ensembl 74_37 +1 known missense c.382 p.L128M 1.000 NULL pfam_ATPase_V0-cplx_e1/e2_su - no_errors ATP6V0E2 HGNC ENSG00000171130 95 0 0 38 18 32.1429 SMARCD3 0 genome.wustl.edu 37 7 150936822 150936822 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 150936822 150936822 G A SNP SMARCD3 ENST00000262188 human ensembl 74_37 -1 known missense c.1184 p.T395M 1.000 NULL pfam_SWIB_MDM2_domain,superfamily_SWIB_MDM2_domain,smart_SWIB_domain - no_errors SMARCD3 HGNC ENSG00000082014 154 0 0 32 31 49.2063 XRCC2 0 genome.wustl.edu 37 7 152345981 152345981 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 152345981 152345981 T C SNP XRCC2 ENST00000359321 human ensembl 74_37 -1 known missense c.589 p.T197A 0.811 pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 337 1 0.295858 224 26 10.4 PAXIP1 0 genome.wustl.edu 37 7 154738278 154738278 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 154738278 154738278 A G SNP PAXIP1 ENST00000397192 human ensembl 74_37 -1 known missense c.3077 p.L1026S 0.991 smart_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 62 0 0 30 9 23.0769 RBM33 0 genome.wustl.edu 37 7 155537809 155537809 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 155537809 155537809 A G SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.2492 p.Q831R 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 12 0 0 12 2 14.2857 RNF32 0 genome.wustl.edu 37 7 156437236 156437236 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 156437236 156437236 C T SNP RNF32 ENST00000317955 human ensembl 74_37 +1 known missense c.59 p.A20V 1.000 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 86 0 0 49 8 14.0351 RNF32 0 genome.wustl.edu 37 7 156469025 156469025 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 156469025 156469025 G A SNP RNF32 ENST00000311822 human ensembl 74_37 +1 known missense c.889 p.G297R 0.000 NULL pfam_Znf_C3HC4_RING-type,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Znf_RING,pfscan_IQ_motif_EF-hand-BS,pfscan_Znf_RING - no_errors RNF32 HGNC ENSG00000105982 64 0 0 21 25 54.3478 NOM1 0 genome.wustl.edu 37 7 156742867 156742867 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 156742867 156742867 C T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.436 p.P146S 0.001 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 43 0 0 9 9 50 WDR60 0 genome.wustl.edu 37 7 158726880 158726880 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 158726880 158726880 G A SNP WDR60 ENST00000407559 human ensembl 74_37 +1 known silent c.2607 p.L869 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR60 HGNC ENSG00000126870 77 0 0 50 16 24.2424 SNX13 0 genome.wustl.edu 37 7 17861218 17861218 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 17861218 17861218 G A SNP SNX13 ENST00000428135 human ensembl 74_37 -1 known missense c.1759 p.R587W 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_Phox,pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,superfamily_Cyt_c_oxidase_su5A/6,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX13 HGNC ENSG00000071189 142 0 0 72 40 35.7143 ABCB5 0 genome.wustl.edu 37 7 20738131 20738131 + Silent SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 20738131 20738131 T G SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known silent c.777 p.T259 0.992 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 ABCB5 HGNC ENSG00000004846 72 0 0 38 13 25.4902 ABCB5 0 genome.wustl.edu 37 7 20782592 20782592 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 20782592 20782592 T C SNP ABCB5 ENST00000258738 human ensembl 74_37 +1 known silent c.1782 p.S594 0.064 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB5 HGNC ENSG00000004846 137 0 0 51 30 37.037 SP4 0 genome.wustl.edu 37 7 21469680 21469680 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 21469680 21469680 A T SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.897 p.Q299H 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 140 0 0 72 21 22.5806 NUPL2 0 genome.wustl.edu 37 7 23224695 23224695 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 23224695 23224695 A G SNP NUPL2 ENST00000258742 human ensembl 74_37 +1 known missense c.128 p.N43S 0.360 NULL smart_Znf_CCCH - no_errors NUPL2 HGNC ENSG00000136243 77 0 0 30 20 40 CHST12 0 genome.wustl.edu 37 7 2472447 2472447 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 2472447 2472447 G T SNP CHST12 ENST00000258711 human ensembl 74_37 +1 known missense c.173 p.R58M 0.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors CHST12 HGNC ENSG00000136213 175 1 0.568182 86 48 35.8209 BRAT1 0 genome.wustl.edu 37 7 2583482 2583482 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 2583482 2583482 C A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.545 p.G182V 0.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 152 0 0 78 34 30.3571 CPVL 0 genome.wustl.edu 37 7 29111511 29111511 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 29111511 29111511 C T SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.742 p.G248S 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 175 0 0 85 31 26.7241 CPVL 0 genome.wustl.edu 37 7 29152370 29152370 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 29152370 29152370 C T SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.238 p.V80M 1.000 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 154 0 0 63 34 35.0515 SCRN1 0 genome.wustl.edu 37 7 29994974 29994974 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 29994974 29994974 G A SNP SCRN1 ENST00000434476 human ensembl 74_37 -1 known silent c.222 p.C74 1.000 NULL pfam_Peptidase_C69 - no_errors SCRN1 HGNC ENSG00000136193 120 1 0.826446 80 36 31.0345 NOD1 0 genome.wustl.edu 37 7 30492144 30492144 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 30492144 30492144 G A SNP NOD1 ENST00000222823 human ensembl 74_37 -1 known missense c.889 p.R297C 0.004 pfscan_NACHT_NTPase pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD - no_errors NOD1 HGNC ENSG00000106100 59 0 0 28 19 40.4255 ADCYAP1R1 0 genome.wustl.edu 37 7 31126133 31126133 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 31126133 31126133 T C SNP ADCYAP1R1 ENST00000304166 human ensembl 74_37 +1 known missense c.805 p.Y269H 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_PACAP_1_rcpt,prints_GPCR_2_secretin-like - no_errors ADCYAP1R1 HGNC ENSG00000078549 86 0 0 52 8 13.3333 DPY19L2P1 0 genome.wustl.edu 37 7 35121251 35121251 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 35121251 35121251 A G SNP DPY19L2P1 ENST00000458672 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 77 0 0 34 16 32 AOAH 0 genome.wustl.edu 37 7 36713584 36713584 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 36713584 36713584 A G SNP AOAH ENST00000258749 human ensembl 74_37 -1 known missense c.254 p.L85S 0.004 pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 85 0 0 48 20 29.4118 AMPH 0 genome.wustl.edu 37 7 38431519 38431519 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 38431519 38431519 C T SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.1708 p.E570K 0.000 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 89 0 0 58 25 30.1205 GLI3 0 genome.wustl.edu 37 7 42005485 42005485 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 42005485 42005485 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known silent c.3186 p.S1062 0.024 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 144 1 0.689655 58 40 40.8163 GLI3 0 genome.wustl.edu 37 7 42006006 42006006 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 42006006 42006006 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.2665 p.V889M 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 63 0 0 24 13 35.1351 HECW1 0 genome.wustl.edu 37 7 43351483 43351483 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 43351483 43351483 A G SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known missense c.149 p.N50S 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 149 0 0 64 21 24.7059 HECW1 0 genome.wustl.edu 37 7 43484721 43484721 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 43484721 43484721 G A SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.1950 p.T650 0.009 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 44 0 0 34 5 12.8205 HECW1 0 genome.wustl.edu 37 7 43508576 43508576 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 43508576 43508576 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known nonsense c.2971 p.R991* 1.000 NULL pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 113 0 0 91 5 5.20833 BLVRA 0 genome.wustl.edu 37 7 43840132 43840132 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 43840132 43840132 G A SNP BLVRA ENST00000265523 human ensembl 74_37 +1 known missense c.421 p.V141M 0.986 pfam_Biliverdin_Rdtase_cat,pirsf_Biliverdin_Rdtase_A pfam_Biliverdin_Rdtase_cat,pfam_Oxidoreductase_N,pirsf_Biliverdin_Rdtase_A - no_errors BLVRA HGNC ENSG00000106605 96 0 0 76 8 9.52381 CAMK2B 0 genome.wustl.edu 37 7 44365064 44365064 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 44365064 44365064 C T SNP CAMK2B ENST00000427209 human ensembl 74_37 -1 known rna NULL NULL 0.365 - - - no_errors CAMK2B HGNC ENSG00000058404 10 0 0 7 8 53.3333 FOXK1 0 genome.wustl.edu 37 7 4800727 4800727 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 4800727 4800727 A G SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.1729 p.T577A 1.000 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 201 2 0.985222 111 46 29.2994 AP5Z1 0 genome.wustl.edu 37 7 4825182 4825182 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 4825182 4825182 C T SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.999 p.D333 0.115 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 33 0 0 15 3 16.6667 ABCA13 0 genome.wustl.edu 37 7 48312524 48312524 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 48312524 48312524 C T SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known silent c.3261 p.F1087 0.988 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 37 0 0 14 7 33.3333 RADIL 0 genome.wustl.edu 37 7 4856942 4856942 + Nonsense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 4856942 4856942 G A SNP RADIL ENST00000536091 human ensembl 74_37 -1 known nonsense c.1495 p.R499* 0.993 NULL pfam_Ras-assoc,superfamily_SMAD_FHA_domain,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RADIL HGNC ENSG00000157927 82 0 0 35 13 27.0833 ACTB 0 genome.wustl.edu 37 7 5567755 5567755 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 5567755 5567755 G A SNP ACTB ENST00000331789 human ensembl 74_37 -1 known silent c.864 p.D288 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 357 0 0 173 76 30.5221 FKBP9L 0 genome.wustl.edu 37 7 55755504 55755504 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 55755504 55755504 G A SNP FKBP9L ENST00000455909 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FKBP9L HGNC ENSG00000176826 94 0 0 35 25 41.6667 RNF216 0 genome.wustl.edu 37 7 5692060 5692060 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 5692060 5692060 T C SNP RNF216 ENST00000389902 human ensembl 74_37 -1 known missense c.2143 p.K715E 1.000 smart_Znf_C6HC smart_Znf_C6HC - no_errors RNF216 HGNC ENSG00000011275 272 0 0 156 87 35.8025 PMS2 0 genome.wustl.edu 37 7 6027153 6027153 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 6027153 6027153 C T SNP PMS2 ENST00000265849 human ensembl 74_37 -1 known missense c.1243 p.V415M 0.003 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 140 0 0 60 31 34.0659 USP42 0 genome.wustl.edu 37 7 6189299 6189299 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 6189299 6189299 A G SNP USP42 ENST00000306177 human ensembl 74_37 +1 known missense c.1472 p.N491S 0.894 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP42 HGNC ENSG00000106346 211 0 0 132 13 8.96552 CCZ1B 0 genome.wustl.edu 37 7 6844665 6844665 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 6844665 6844665 T A SNP CCZ1B ENST00000316731 human ensembl 74_37 -1 known missense c.1010 p.D337V 1.000 pfam_DUF1712_fun pfam_DUF1712_fun - no_errors CCZ1B HGNC ENSG00000146574 161 0 0 105 35 25 TYW1B 0 genome.wustl.edu 37 7 72178733 72178733 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 72178733 72178733 G A SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.94 p.R32C 1.000 pfam_rSAM pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 40 0 0 18 10 35.7143 GTF2IRD1 0 genome.wustl.edu 37 7 73933830 73933830 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 73933830 73933830 C T SNP GTF2IRD1 ENST00000265755 human ensembl 74_37 +1 known missense c.697 p.H233Y 0.998 pirsf_TF_II-I pfam_GTF2I,superfamily_GTF2I,pirsf_TF_II-I,pfscan_GTF2I - no_errors GTF2IRD1 HGNC ENSG00000006704 235 0 0 109 65 37.3563 POR 0 genome.wustl.edu 37 7 75613126 75613126 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 75613126 75613126 A G SNP POR ENST00000461988 human ensembl 74_37 +1 known missense c.1018 p.I340V 0.557 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 39 0 0 25 8 24.2424 POR 0 genome.wustl.edu 37 7 75614412 75614412 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 75614412 75614412 C T SNP POR ENST00000461988 human ensembl 74_37 +1 known missense c.1285 p.H429Y 1.000 pfam_FAD-binding_1,superfamily_Riboflavin_synthase-like_b-brl pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors POR HGNC ENSG00000127948 120 0 0 41 19 31.6667 PTPN12 0 genome.wustl.edu 37 7 77210806 77210806 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 77210806 77210806 G A SNP PTPN12 ENST00000248594 human ensembl 74_37 +1 known missense c.271 p.A91T 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Ptpn_12,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Ptpn_12,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN12 HGNC ENSG00000127947 46 0 0 27 6 18.1818 PHTF2 0 genome.wustl.edu 37 7 77567056 77567056 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 77567056 77567056 C T SNP PHTF2 ENST00000248550 human ensembl 74_37 +1 known silent c.1368 p.H456 0.997 NULL pfam_TF_homeodomain_male - no_errors PHTF2 HGNC ENSG00000006576 28 0 0 11 4 26.6667 HEATR2 0 genome.wustl.edu 37 7 781046 781046 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 781046 781046 A G SNP HEATR2 ENST00000297440 human ensembl 74_37 +1 known missense c.968 p.D323G 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors HEATR2 HGNC ENSG00000164818 19 0 0 11 3 21.4286 CD36 0 genome.wustl.edu 37 7 80295776 80295776 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 80295776 80295776 A G SNP CD36 ENST00000309881 human ensembl 74_37 +1 known missense c.719 p.E240G 0.000 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 120 0 0 94 11 10.4762 PCLO 0 genome.wustl.edu 37 7 82785212 82785212 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 82785212 82785212 A T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.745 p.S249T 0.922 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 80 0 0 55 12 17.9104 SEMA3A 0 genome.wustl.edu 37 7 83758471 83758471 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 83758471 83758471 C T SNP SEMA3A ENST00000265362 human ensembl 74_37 -1 known missense c.301 p.D101N 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3A HGNC ENSG00000075213 197 0 0 143 19 11.7284 GRM3 0 genome.wustl.edu 37 7 86416344 86416344 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 86416344 86416344 T C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.1236 p.C412 0.907 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,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 293 0 0 134 66 33 ADAM22 0 genome.wustl.edu 37 7 87780626 87780626 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 87780626 87780626 T C SNP ADAM22 ENST00000265727 human ensembl 74_37 +1 known missense c.1672 p.W558R 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM22 HGNC ENSG00000008277 140 0 0 62 29 31.8681 SUN1 0 genome.wustl.edu 37 7 889172 889172 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 889172 889172 A G SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.1046 p.Y349C 0.777 NULL pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 523 0 0 357 41 10.3015 C7orf63 0 genome.wustl.edu 37 7 89939383 89939383 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 89939383 89939383 T C SNP C7orf63 ENST00000389297 human ensembl 74_37 +1 known missense c.2657 p.V886A 0.988 NULL superfamily_ARM-type_fold - no_errors C7orf63 HGNC ENSG00000105792 190 0 0 112 8 6.66667 CLDN12 0 genome.wustl.edu 37 7 90042450 90042450 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 90042450 90042450 G T SNP CLDN12 ENST00000287916 human ensembl 74_37 +1 known missense c.460 p.V154F 1.000 prints_Claudin12 prints_Claudin12 - no_errors CLDN12 HGNC ENSG00000157224 346 0 0 169 62 26.8398 FZD1 0 genome.wustl.edu 37 7 90894774 90894774 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 90894774 90894774 C A SNP FZD1 ENST00000287934 human ensembl 74_37 +1 known silent c.579 p.R193 0.982 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD1 HGNC ENSG00000157240 216 1 0.460829 132 8 5.71429 AKAP9 0 genome.wustl.edu 37 7 91736658 91736658 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 91736658 91736658 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.11480 p.Y3827C 0.968 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 258 0 0 140 59 29.6482 RBM48 0 genome.wustl.edu 37 7 92164313 92164313 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 92164313 92164313 A G SNP RBM48 ENST00000481551 human ensembl 74_37 +1 novel missense c.1046 p.K349R 0.001 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 55 0 0 33 4 10.8108 SAMD9 0 genome.wustl.edu 37 7 92732009 92732009 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 92732009 92732009 C T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known nonsense c.3402 p.W1134* 0.042 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 285 0 0 139 63 31.1881 SAMD9L 0 genome.wustl.edu 37 7 92761452 92761452 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 92761452 92761452 A G SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.3833 p.L1278P 0.977 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 123 1 0.806452 70 29 29.2929 SAMD9L 0 genome.wustl.edu 37 7 92763789 92763789 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 92763789 92763789 T C SNP SAMD9L ENST00000318238 human ensembl 74_37 -1 known missense c.1496 p.N499S 1.000 NULL superfamily_SAM/pointed,superfamily_P-loop_NTPase,pfscan_SAM - no_errors SAMD9L HGNC ENSG00000177409 293 1 0.340136 161 71 30.6034 COL1A2 0 genome.wustl.edu 37 7 94057063 94057063 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 94057063 94057063 A C SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.3392 p.K1131T 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 171 0 0 71 28 28.2828 SLC25A13 0 genome.wustl.edu 37 7 95751045 95751045 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 95751045 95751045 C T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.1766 p.R589Q 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_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 282 0 0 147 53 26.5 SLC25A13 0 genome.wustl.edu 37 7 95864143 95864143 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 95864143 95864143 T C SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.299 p.D100G 1.000 pfscan_EF_hand_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 107 0 0 60 9 13.0435 TECPR1 0 genome.wustl.edu 37 7 97866138 97866138 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 97866138 97866138 C T SNP TECPR1 ENST00000379795 human ensembl 74_37 -1 known silent c.1131 p.A377 0.000 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 18 0 0 8 3 27.2727 TRRAP 0 genome.wustl.edu 37 7 98552728 98552728 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 98552728 98552728 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.5717 p.H1906R 1.000 superfamily_ARM-type_fold 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 73 0 0 46 4 8 TRRAP 0 genome.wustl.edu 37 7 98589802 98589802 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 98589802 98589802 A G SNP TRRAP ENST00000359863 human ensembl 74_37 +1 known missense c.9811 p.T3271A 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 557 2 0.357782 281 135 32.4519 ARPC1A 0 genome.wustl.edu 37 7 98957253 98957253 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 98957253 98957253 G A SNP ARPC1A ENST00000262942 human ensembl 74_37 +1 known missense c.875 p.S292N 1.000 superfamily_WD40_repeat_dom,pirsf_ARPC2/3_su1 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_ARPC2/3_su1,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors ARPC1A HGNC ENSG00000241685 119 0 0 69 36 34.2857 CPSF4 0 genome.wustl.edu 37 7 99042427 99042427 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 99042427 99042427 T C SNP CPSF4 ENST00000292476 human ensembl 74_37 +1 known missense c.119 p.V40A 1.000 smart_Znf_CCCH pfam_Znf_CCCH,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCCH,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors CPSF4 HGNC ENSG00000160917 665 1 0.15015 375 111 22.8395 ZSCAN25 0 genome.wustl.edu 37 7 99219142 99219142 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 99219142 99219142 C T SNP ZSCAN25 ENST00000334715 human ensembl 74_37 +1 known silent c.534 p.T178 0.199 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN25 HGNC ENSG00000197037 51 0 0 34 16 32 CYP3A7 0 genome.wustl.edu 37 7 99305499 99305499 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 99305499 99305499 T C SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known missense c.1352 p.N451S 0.946 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 334 0 0 236 25 9.57854 TAF6 0 genome.wustl.edu 37 7 99705994 99705994 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 99705994 99705994 G A SNP TAF6 ENST00000344095 human ensembl 74_37 -1 known missense c.1454 p.T485M 0.997 NULL pfam_DUF1546,pfam_TAF_TATA-bd,superfamily_Histone-fold,superfamily_ARM-type_fold,smart_TAF_TATA-bd - no_errors TAF6 HGNC ENSG00000106290 145 0 0 59 39 39.7959 GAL3ST4 0 genome.wustl.edu 37 7 99757831 99757831 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 99757831 99757831 G A SNP GAL3ST4 ENST00000360039 human ensembl 74_37 -1 known missense c.1181 p.A394V 0.190 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST4 HGNC ENSG00000197093 228 0 0 131 9 6.42857 NCALD 0 genome.wustl.edu 37 8 102731641 102731641 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 102731641 102731641 C T SNP NCALD ENST00000311028 human ensembl 74_37 -1 known missense c.217 p.D73N 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors NCALD HGNC ENSG00000104490 413 0 0 336 103 23.4624 UBR5 0 genome.wustl.edu 37 8 103287984 103287984 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 103287984 103287984 T C SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known silent c.6582 p.E2194 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 92 0 0 71 16 18.3908 UBR5 0 genome.wustl.edu 37 8 103323552 103323552 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 103323552 103323552 G A SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.2591 p.A864V 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 215 0 0 173 46 21.0046 UBR5 0 genome.wustl.edu 37 8 103324440 103324440 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 103324440 103324440 C T SNP UBR5 ENST00000520539 human ensembl 74_37 -1 known missense c.2185 p.D729N 1.000 NULL pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_RCC1/BLIP-II,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin - no_errors UBR5 HGNC ENSG00000104517 78 0 0 63 17 21.25 KLF10 0 genome.wustl.edu 37 8 103664435 103664435 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 103664435 103664435 T A SNP KLF10 ENST00000285407 human ensembl 74_37 -1 known missense c.227 p.N76I 0.021 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF10 HGNC ENSG00000155090 185 0 0 104 51 32.9032 LRP12 0 genome.wustl.edu 37 8 105509440 105509440 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 105509440 105509440 T G SNP LRP12 ENST00000424843 human ensembl 74_37 -1 known missense c.1283 p.N428T 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 224 0 0 182 14 7.14286 OXR1 0 genome.wustl.edu 37 8 107695466 107695466 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 107695466 107695466 T C SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.346 p.F116L 1.000 pfam_LysM_dom,smart_LysM_dom pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 97 0 0 93 11 10.5769 OXR1 0 genome.wustl.edu 37 8 107719150 107719150 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 107719150 107719150 T A SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known missense c.1404 p.N468K 0.037 NULL pfam_TLDc,pfam_LysM_dom,pfam_GRAM,smart_LysM_dom,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 119 0 0 88 6 6.38298 XKR6 0 genome.wustl.edu 37 8 10782233 10782233 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 10782233 10782233 C T SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.872 p.R291H 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 158 0 0 106 24 18.4615 ENY2 0 genome.wustl.edu 37 8 110348433 110348433 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 110348433 110348433 G A SNP ENY2 ENST00000521688 human ensembl 74_37 +1 known missense c.83 p.R28H 1.000 pfam_TF_enhancer_of_yellow_2 pfam_TF_enhancer_of_yellow_2 - no_errors ENY2 HGNC ENSG00000120533 71 0 0 39 13 25 PKHD1L1 0 genome.wustl.edu 37 8 110394751 110394751 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 110394751 110394751 A G SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.368 p.E123G 0.976 superfamily_Ig_E-set,smart_IPT 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 176 0 0 129 42 24.5614 CSMD3 0 genome.wustl.edu 37 8 113237026 113237026 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 113237026 113237026 A G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.11098 p.L3700 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 314 0 0 151 54 26.3415 CSMD3 0 genome.wustl.edu 37 8 113237134 113237134 + Nonsense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 113237134 113237134 C A SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.10990 p.G3664* 1.000 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 248 0 0 137 46 25.1366 CSMD3 0 genome.wustl.edu 37 8 113259321 113259321 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 113259321 113259321 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10150 p.L3384I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 103 0 0 55 22 28.5714 CSMD3 0 genome.wustl.edu 37 8 114111072 114111072 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 114111072 114111072 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.830 p.D277G 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 104 1 0.952381 89 18 16.8224 NEIL2 0 genome.wustl.edu 37 8 11637208 11637208 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 11637208 11637208 G A SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known silent c.240 p.K80 0.000 pfam_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 288 1 0.346021 225 63 21.875 NEIL2 0 genome.wustl.edu 37 8 11637331 11637331 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 11637331 11637331 C T SNP NEIL2 ENST00000284503 human ensembl 74_37 +1 known silent c.363 p.D121 0.000 pfam_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL2 HGNC ENSG00000154328 193 0 0 138 43 23.7569 USP17L2 0 genome.wustl.edu 37 8 11995417 11995417 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 11995417 11995417 C A SNP USP17L2 ENST00000333796 human ensembl 74_37 -1 known missense c.853 p.D285Y 0.025 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_HABP4_PAIRBP1-bd,pfscan_Peptidase_C19/C67 - no_errors USP17L2 HGNC ENSG00000223443 248 0 0 269 25 8.5034 TAF2 0 genome.wustl.edu 37 8 120793304 120793304 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 120793304 120793304 A G SNP TAF2 ENST00000378164 human ensembl 74_37 -1 known missense c.2242 p.F748L 1.000 superfamily_ARM-type_fold pfam_Peptidase_M1_N,superfamily_ARM-type_fold - no_errors TAF2 HGNC ENSG00000064313 66 0 0 56 13 18.8406 DEPTOR 0 genome.wustl.edu 37 8 120940664 120940664 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 120940664 120940664 T C SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known silent c.147 p.V49 0.988 smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 250 0 0 201 18 8.21918 DEPTOR 0 genome.wustl.edu 37 8 120940800 120940800 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 120940800 120940800 C A SNP DEPTOR ENST00000286234 human ensembl 74_37 +1 known silent c.283 p.R95 1.000 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_DEP_dom,superfamily_PDZ,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ - no_errors DEPTOR HGNC ENSG00000155792 186 0 0 131 35 21.0843 COL14A1 0 genome.wustl.edu 37 8 121256232 121256232 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 121256232 121256232 G A SNP COL14A1 ENST00000297848 human ensembl 74_37 +1 known missense c.2464 p.A822T 0.568 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 228 0 0 163 54 24.8848 FAM86B2 0 genome.wustl.edu 37 8 12285159 12285159 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 12285159 12285159 G T SNP FAM86B2 ENST00000393715 human ensembl 74_37 -1 known missense c.215 p.P72H 0.319 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 113 0 0 105 24 18.6047 ZHX2 0 genome.wustl.edu 37 8 123964414 123964414 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 123964414 123964414 A G SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.664 p.T222A 0.916 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 250 0 0 224 13 5.48523 FBXO32 0 genome.wustl.edu 37 8 124516885 124516885 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 124516885 124516885 T C SNP FBXO32 ENST00000517956 human ensembl 74_37 -1 known missense c.937 p.T313A 1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors FBXO32 HGNC ENSG00000156804 109 0 0 109 8 6.83761 KIAA1456 0 genome.wustl.edu 37 8 12878636 12878636 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 12878636 12878636 C T SNP KIAA1456 ENST00000524591 human ensembl 74_37 +1 known missense c.448 p.H150Y 0.544 NULL pfam_Methyltransf_11,pfam_Methyltransf_12,pfam_UbiE/COQ5_MeTrFase,pfam_Methyltransferase-rel - no_errors KIAA1456 HGNC ENSG00000250305 54 0 0 29 13 30.9524 GSDMC 0 genome.wustl.edu 37 8 130763802 130763802 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 130763802 130763802 T A SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.929 p.E310V 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 178 0 0 144 9 5.88235 ADCY8 0 genome.wustl.edu 37 8 131848574 131848574 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 131848574 131848574 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.2624 p.T875I 1.000 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 139 0 0 93 26 21.8487 TG 0 genome.wustl.edu 37 8 133894176 133894176 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 133894176 133894176 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.707 p.H236R 0.993 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 126 0 0 98 23 19.0083 TG 0 genome.wustl.edu 37 8 133906034 133906034 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 133906034 133906034 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.2861 p.G954E 0.967 pirsf_Thyroglobulin pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 248 0 0 210 12 5.40541 ZFAT 0 genome.wustl.edu 37 8 135614731 135614731 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 135614731 135614731 G A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.1231 p.R411C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 80 0 0 47 16 25.3968 ZFAT 0 genome.wustl.edu 37 8 135622749 135622749 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 135622749 135622749 T C SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.598 p.I200V 0.705 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 140 0 0 100 30 23.0769 FAM135B 0 genome.wustl.edu 37 8 139153555 139153555 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 139153555 139153555 A G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.3676 p.S1226P 0.997 pfam_DUF676_lipase-like,pfam_PGAP1-like pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 163 0 0 141 30 17.5439 SLC45A4 0 genome.wustl.edu 37 8 142225875 142225875 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 142225875 142225875 A G SNP SLC45A4 ENST00000517878 human ensembl 74_37 -1 known missense c.1924 p.Y642H 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A4 HGNC ENSG00000022567 110 0 0 145 14 8.80503 TSNARE1 0 genome.wustl.edu 37 8 143395755 143395755 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 143395755 143395755 C T SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known missense c.1121 p.G374D 0.001 superfamily_t-SNARE pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 46 0 0 30 3 9.09091 BAI1 0 genome.wustl.edu 37 8 143623648 143623648 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 143623648 143623648 C T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known silent c.4053 p.A1351 0.993 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 101 0 0 65 19 22.619 ZC3H3 0 genome.wustl.edu 37 8 144557662 144557662 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 144557662 144557662 G A SNP ZC3H3 ENST00000262577 human ensembl 74_37 -1 known silent c.1809 p.C603 0.983 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 39 0 0 32 12 27.2727 FAM83H 0 genome.wustl.edu 37 8 144810850 144810850 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 144810850 144810850 C T SNP FAM83H ENST00000388913 human ensembl 74_37 -1 known missense c.781 p.V261M 1.000 pfam_DUF1669 pfam_DUF1669 - no_errors FAM83H HGNC ENSG00000180921 85 0 0 49 19 27.9412 EPPK1 0 genome.wustl.edu 37 8 144945175 144945175 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 144945175 144945175 G A SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.2247 p.F749 0.991 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 281 1 0.35461 182 43 19.1111 OPLAH 0 genome.wustl.edu 37 8 145107434 145107434 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145107434 145107434 G A SNP OPLAH ENST00000426825 human ensembl 74_37 -1 known missense c.3221 p.A1074V 0.992 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 20 0 0 17 8 32 MAF1 0 genome.wustl.edu 37 8 145160998 145160998 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145160998 145160998 G A SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known missense c.232 p.G78S 0.980 pfam_Maf1,pirsf_Maf1 pfam_Maf1,pirsf_Maf1 - no_errors MAF1 HGNC ENSG00000179632 194 0 0 174 45 20.5479 MROH1 0 genome.wustl.edu 37 8 145235329 145235329 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145235329 145235329 G A SNP MROH1 ENST00000326134 human ensembl 74_37 +1 known silent c.465 p.A155 0.753 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors MROH1 HGNC ENSG00000179832 133 0 0 114 37 24.5033 HSF1 0 genome.wustl.edu 37 8 145533580 145533580 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145533580 145533580 G A SNP HSF1 ENST00000528838 human ensembl 74_37 +1 known silent c.486 p.K162 1.000 NULL pfam_Vert_HSTF_C,pfam_HSF_DNA-bd,smart_HSF_DNA-bd,prints_HSF_DNA-bd - no_errors HSF1 HGNC ENSG00000185122 85 0 0 56 15 21.1268 FBXL6 0 genome.wustl.edu 37 8 145579642 145579642 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145579642 145579642 T C SNP FBXL6 ENST00000331890 human ensembl 74_37 -1 known silent c.1458 p.T486 0.016 NULL superfamily_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors FBXL6 HGNC ENSG00000182325 170 0 0 125 30 19.3548 SLC52A2 0 genome.wustl.edu 37 8 145583653 145583653 + Silent SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145583653 145583653 G T SNP SLC52A2 ENST00000329994 human ensembl 74_37 +1 known silent c.501 p.V167 0.987 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A2 HGNC ENSG00000185803 192 0 0 140 45 24.3243 CPSF1 0 genome.wustl.edu 37 8 145623173 145623173 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145623173 145623173 T C SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.2069 p.H690R 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 139 1 0.714286 129 17 11.6438 CPSF1 0 genome.wustl.edu 37 8 145623272 145623272 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145623272 145623272 A G SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.1970 p.V657A 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 150 0 0 118 20 14.4928 SLC39A4 0 genome.wustl.edu 37 8 145638262 145638262 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145638262 145638262 C T SNP SLC39A4 ENST00000301305 human ensembl 74_37 -1 known missense c.1696 p.A566T 0.711 pfam_ZIP pfam_ZIP - no_errors SLC39A4 HGNC ENSG00000147804 43 0 0 32 9 21.9512 RECQL4 0 genome.wustl.edu 37 8 145737617 145737617 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 145737617 145737617 T C SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.3146 p.D1049G 1.000 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 58 0 0 26 9 25.7143 DLGAP2 0 genome.wustl.edu 37 8 1497659 1497659 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 1497659 1497659 A G SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.800 p.N267S 0.057 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 179 0 0 122 30 19.7368 DLGAP2 0 genome.wustl.edu 37 8 1497743 1497743 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 1497743 1497743 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.884 p.T295M 0.999 NULL pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 59 0 0 24 14 36.8421 TUSC3 0 genome.wustl.edu 37 8 15508249 15508249 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 15508249 15508249 T G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known missense c.352 p.Y118D 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 419 0 0 330 95 22.3529 DLGAP2 0 genome.wustl.edu 37 8 1649450 1649450 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 1649450 1649450 C T SNP DLGAP2 ENST00000421627 human ensembl 74_37 +1 known missense c.2806 p.R936C 1.000 pfam_GKAP pfam_GKAP - no_errors DLGAP2 HGNC ENSG00000198010 11 0 0 9 3 25 ZDHHC2 0 genome.wustl.edu 37 8 17053124 17053124 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 17053124 17053124 A G SNP ZDHHC2 ENST00000262096 human ensembl 74_37 +1 known missense c.364 p.M122V 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,superfamily_Plexin-like_fold,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC2 HGNC ENSG00000104219 103 0 0 77 21 21.4286 SLC7A2 0 genome.wustl.edu 37 8 17400829 17400829 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 17400829 17400829 C T SNP SLC7A2 ENST00000004531 human ensembl 74_37 +1 known missense c.101 p.S34L 0.000 NULL pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 117 0 0 84 22 20.7547 MTUS1 0 genome.wustl.edu 37 8 17601244 17601244 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 17601244 17601244 A G SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known missense c.2156 p.L719S 0.005 NULL superfamily_Ferritin-like_SF - no_errors MTUS1 HGNC ENSG00000129422 167 0 0 143 20 12.2699 PCM1 0 genome.wustl.edu 37 8 17810504 17810504 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 17810504 17810504 G A SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.1097 p.R366K 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 39 0 0 19 6 24 CSGALNACT1 0 genome.wustl.edu 37 8 19363333 19363333 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 19363333 19363333 G A SNP CSGALNACT1 ENST00000311540 human ensembl 74_37 -1 known missense c.13 p.R5C 0.999 NULL pfam_Chond_GalNAc - no_errors CSGALNACT1 HGNC ENSG00000147408 148 0 0 133 20 13.0719 LZTS1 0 genome.wustl.edu 37 8 20110740 20110740 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 20110740 20110740 G A SNP LZTS1 ENST00000265801 human ensembl 74_37 -1 known silent c.702 p.D234 0.361 NULL NULL - no_errors LZTS1 HGNC ENSG00000061337 187 0 0 108 46 29.8701 XPO7 0 genome.wustl.edu 37 8 21833943 21833943 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 21833943 21833943 A G SNP XPO7 ENST00000434536 human ensembl 74_37 +1 known missense c.701 p.N234S 1.000 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors XPO7 HGNC ENSG00000130227 287 0 0 252 18 6.66667 FGF17 0 genome.wustl.edu 37 8 21904139 21904139 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 21904139 21904139 G A SNP FGF17 ENST00000359441 human ensembl 74_37 +1 known missense c.352 p.G118R 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_IL-1_fam/FGF_fam - no_errors FGF17 HGNC ENSG00000158815 76 0 0 54 15 21.7391 HR 0 genome.wustl.edu 37 8 21978590 21978590 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 21978590 21978590 C T SNP HR ENST00000381418 human ensembl 74_37 -1 known silent c.2355 p.P785 0.928 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 162 1 0.613497 123 38 23.6025 ADAM7 0 genome.wustl.edu 37 8 24324356 24324356 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 24324356 24324356 T C SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.434 p.V145A 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 131 0 0 109 35 24.3056 ADAM7 0 genome.wustl.edu 37 8 24350742 24350742 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 24350742 24350742 G T SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.1842 p.M614I 1.000 smart_ADAM_Cys-rich 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 77 0 0 60 4 6.25 ADRA1A 0 genome.wustl.edu 37 8 26722095 26722095 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 26722095 26722095 G A SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.392 p.P131L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 161 0 0 87 32 26.8908 SCARA3 0 genome.wustl.edu 37 8 27507229 27507229 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 27507229 27507229 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known silent c.18 p.A6 0.001 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 89 0 0 67 14 17.284 SCARA3 0 genome.wustl.edu 37 8 27516732 27516732 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 27516732 27516732 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.1045 p.R349C 0.999 NULL pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 189 0 0 178 32 15.2381 NUGGC 0 genome.wustl.edu 37 8 27880923 27880923 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 27880923 27880923 C T SNP NUGGC ENST00000341513 human ensembl 74_37 -1 known missense c.2302 p.A768T 0.640 NULL pfam_Dynamin_GTPase,superfamily_P-loop_NTPase - no_errors NUGGC HGNC ENSG00000189233 116 0 0 85 20 19.0476 RBPMS 0 genome.wustl.edu 37 8 30332344 30332344 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 30332344 30332344 A G SNP RBPMS ENST00000339877 human ensembl 74_37 +1 known missense c.116 p.E39G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 322 0 0 249 90 26.5487 PPP2CB 0 genome.wustl.edu 37 8 30657228 30657228 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 30657228 30657228 C T SNP PPP2CB ENST00000221138 human ensembl 74_37 -1 known missense c.146 p.R49H 1.000 smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CB HGNC ENSG00000104695 280 0 0 235 50 17.5439 TEX15 0 genome.wustl.edu 37 8 30694355 30694355 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 30694355 30694355 T C SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known missense c.8296 p.N2766D 0.002 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 265 0 0 215 72 25.0871 DUSP26 0 genome.wustl.edu 37 8 33454979 33454979 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 33454979 33454979 G A SNP DUSP26 ENST00000256261 human ensembl 74_37 -1 known missense c.55 p.R19W 1.000 NULL pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_Atypical_DUSP_famA,prints_Atypical_DUSP - no_errors DUSP26 HGNC ENSG00000133878 106 0 0 76 21 21.6495 UNC5D 0 genome.wustl.edu 37 8 35406931 35406931 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 35406931 35406931 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.225 p.C75 1.000 NULL pfam_ZU5,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Death_domain,pfam_Immunoglobulin,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5D HGNC ENSG00000156687 60 0 0 49 19 27.9412 KCNU1 0 genome.wustl.edu 37 8 36644862 36644862 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 36644862 36644862 A G SNP KCNU1 ENST00000399881 human ensembl 74_37 +1 known silent c.234 p.V78 0.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_Ca-activ_BK_asu - no_errors KCNU1 HGNC ENSG00000215262 44 0 0 23 6 20.6897 ZNF703 0 genome.wustl.edu 37 8 37556077 37556077 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 37556077 37556077 T C SNP ZNF703 ENST00000331569 human ensembl 74_37 +1 known missense c.1658 p.L553S 1.000 NULL pfam_Tscrpt_rep_NocA-like,pfscan_Znf_C2H2 - no_errors ZNF703 HGNC ENSG00000183779 45 0 0 46 4 8 GPR124 0 genome.wustl.edu 37 8 37696520 37696520 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 37696520 37696520 T C SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.2306 p.L769P 1.000 pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 77 0 0 84 6 6.66667 RAB11FIP1 0 genome.wustl.edu 37 8 37729770 37729770 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 37729770 37729770 G A SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known silent c.2550 p.D850 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 124 0 0 97 6 5.82524 WHSC1L1 0 genome.wustl.edu 37 8 38146075 38146075 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 38146075 38146075 T C SNP WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known missense c.3431 p.Y1144C 1.000 smart_AWS,pfscan_SET_dom pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 286 0 0 205 81 28.3217 ANK1 0 genome.wustl.edu 37 8 41542098 41542098 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 41542098 41542098 C T SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.4501 p.D1501N 0.989 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 67 0 0 48 12 20 KAT6A 0 genome.wustl.edu 37 8 41798556 41798556 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 41798556 41798556 C T SNP KAT6A ENST00000265713 human ensembl 74_37 -1 known missense c.2843 p.R948Q 1.000 NULL pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6A HGNC ENSG00000083168 280 0 0 185 58 23.8683 HGSNAT 0 genome.wustl.edu 37 8 43048914 43048914 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 43048914 43048914 C A SNP HGSNAT ENST00000458501 human ensembl 74_37 +1 known silent c.1476 p.T492 0.003 NULL pfam_DUF1624 - no_errors HGSNAT HGNC ENSG00000165102 147 0 0 128 30 18.9873 ST18 0 genome.wustl.edu 37 8 53073967 53073967 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 53073967 53073967 A T SNP ST18 ENST00000276480 human ensembl 74_37 -1 known missense c.1562 p.V521E 0.839 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors ST18 HGNC ENSG00000147488 292 0 0 232 58 20 ATP6V1H 0 genome.wustl.edu 37 8 54628439 54628439 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 54628439 54628439 T C SNP ATP6V1H ENST00000523899 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ATP6V1H HGNC ENSG00000047249 18 0 0 6 5 45.4545 XKR4 0 genome.wustl.edu 37 8 56015361 56015361 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 56015361 56015361 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.313 p.R105W 0.997 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 73 0 0 46 17 26.9841 XKR4 0 genome.wustl.edu 37 8 56015787 56015787 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 56015787 56015787 T C SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.739 p.S247P 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 120 0 0 106 24 18.4615 PLAG1 0 genome.wustl.edu 37 8 57078885 57078885 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 57078885 57078885 A G SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.1420 p.S474P 0.991 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 372 0 0 253 48 15.9468 PLAG1 0 genome.wustl.edu 37 8 57079206 57079206 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 57079206 57079206 C T SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.1099 p.V367M 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 243 1 0.409836 150 55 26.8293 PENK 0 genome.wustl.edu 37 8 57358316 57358316 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 57358316 57358316 T C SNP PENK ENST00000518770 human ensembl 74_37 -1 putative missense c.197 p.Y66C 0.000 NULL pfam_Opioid_neupept,prints_Proenkphlin_A - no_errors PENK HGNC ENSG00000181195 76 0 0 49 15 23.4375 CYP7A1 0 genome.wustl.edu 37 8 59407183 59407183 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 59407183 59407183 T C SNP CYP7A1 ENST00000301645 human ensembl 74_37 -1 known silent c.921 p.A307 0.999 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP7A1 HGNC ENSG00000167910 151 0 0 158 10 5.95238 CHD7 0 genome.wustl.edu 37 8 61765496 61765496 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 61765496 61765496 A G SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.6212 p.H2071R 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 167 0 0 136 44 24.4444 MCPH1 0 genome.wustl.edu 37 8 6302632 6302632 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 6302632 6302632 C T SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known silent c.1389 p.C463 0.000 pfam_Microcephalin pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 164 0 0 120 33 21.5686 CRH 0 genome.wustl.edu 37 8 67089245 67089245 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 67089245 67089245 C T SNP CRH ENST00000276571 human ensembl 74_37 -1 known silent c.468 p.E156 0.998 pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF pfam_Corticotropin-releasing_factor,smart_Corticotropin-releasing_factor,prints_Urocortin_CRF - no_errors CRH HGNC ENSG00000147571 57 0 0 39 13 25 MYBL1 0 genome.wustl.edu 37 8 67488460 67488460 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 67488460 67488460 T C SNP MYBL1 ENST00000522677 human ensembl 74_37 -1 known missense c.1252 p.K418E 1.000 NULL pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 344 1 0.289855 322 38 10.5556 VCPIP1 0 genome.wustl.edu 37 8 67578127 67578127 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 67578127 67578127 A G SNP VCPIP1 ENST00000310421 human ensembl 74_37 -1 known missense c.1067 p.I356T 1.000 pfscan_OTU pfam_OTU,pfscan_OTU - no_errors VCPIP1 HGNC ENSG00000175073 263 0 0 210 54 20.4545 CSPP1 0 genome.wustl.edu 37 8 68044279 68044279 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 68044279 68044279 G A SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known silent c.1776 p.Q592 0.916 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 115 0 0 97 32 24.8062 CPA6 0 genome.wustl.edu 37 8 68334846 68334846 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 68334846 68334846 C T SNP CPA6 ENST00000297770 human ensembl 74_37 -1 known missense c.1207 p.G403R 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA6 HGNC ENSG00000165078 244 0 0 153 58 27.4882 PREX2 0 genome.wustl.edu 37 8 69021847 69021847 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 69021847 69021847 T C SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.3135 p.C1045 0.990 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 174 0 0 121 41 25.3086 SLCO5A1 0 genome.wustl.edu 37 8 70585127 70585127 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 70585127 70585127 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.2524 p.A842T 0.000 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 122 0 0 82 17 17.1717 SLCO5A1 0 genome.wustl.edu 37 8 70617453 70617453 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 70617453 70617453 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.1435 p.V479I 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 117 0 0 79 30 27.5229 NCOA2 0 genome.wustl.edu 37 8 71068739 71068739 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 71068739 71068739 C T SNP NCOA2 ENST00000452400 human ensembl 74_37 -1 known missense c.1861 p.V621M 0.083 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA2 HGNC ENSG00000140396 219 0 0 181 36 16.5899 EYA1 0 genome.wustl.edu 37 8 72127938 72127938 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 72127938 72127938 T G SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known missense c.1386 p.E462D 0.996 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 105 0 0 82 8 8.88889 MSC 0 genome.wustl.edu 37 8 72756065 72756065 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 72756065 72756065 G A SNP MSC ENST00000325509 human ensembl 74_37 -1 known missense c.349 p.R117C 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 MSC HGNC ENSG00000178860 90 0 0 48 18 27.2727 TRPA1 0 genome.wustl.edu 37 8 72950278 72950278 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 72950278 72950278 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.2325 p.I775 0.986 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 14 0 0 11 5 31.25 LOC100132891 0 genome.wustl.edu 37 8 72967644 72967644 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 72967644 72967644 A G SNP LOC100132891 ENST00000457356 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-383H13.1 Clone_based_vega_gene ENSG00000235531 98 0 0 90 19 17.4312 TRPA1 0 genome.wustl.edu 37 8 72973946 72973946 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 72973946 72973946 C T SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known silent c.858 p.E286 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 164 0 0 122 28 18.6667 TMEM70 0 genome.wustl.edu 37 8 74888567 74888567 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 74888567 74888567 C T SNP TMEM70 ENST00000312184 human ensembl 74_37 +1 known silent c.51 p.C17 0.000 NULL pfam_DUF1301_TMEM70 - no_errors TMEM70 HGNC ENSG00000175606 39 0 0 26 10 27.7778 JPH1 0 genome.wustl.edu 37 8 75227698 75227698 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 75227698 75227698 G A SNP JPH1 ENST00000519947 human ensembl 74_37 -1 known missense c.172 p.R58C 0.028 NULL NULL - no_errors JPH1 HGNC ENSG00000104369 49 0 0 38 10 20.8333 GDAP1 0 genome.wustl.edu 37 8 75272475 75272475 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 75272475 75272475 T C SNP GDAP1 ENST00000220822 human ensembl 74_37 +1 known silent c.414 p.H138 0.998 NULL pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like - no_errors GDAP1 HGNC ENSG00000104381 235 0 0 166 41 19.8068 ZFHX4 0 genome.wustl.edu 37 8 77616900 77616900 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 77616900 77616900 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.577 p.N193D 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 88 0 0 44 13 22.807 FAM86B3P 0 genome.wustl.edu 37 8 8098907 8098907 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 8098907 8098907 G A SNP FAM86B3P ENST00000310542 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors FAM86B3P HGNC ENSG00000173295 68 0 0 44 10 18.5185 CLDN23 0 genome.wustl.edu 37 8 8560311 8560311 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 8560311 8560311 T C SNP CLDN23 ENST00000519106 human ensembl 74_37 +1 known missense c.403 p.Y135H 1.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin - no_errors CLDN23 HGNC ENSG00000253958 37 0 0 34 13 27.6596 DCAF4L2 0 genome.wustl.edu 37 8 88885724 88885724 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 88885724 88885724 A G SNP DCAF4L2 ENST00000319675 human ensembl 74_37 -1 known missense c.476 p.L159P 0.911 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4L2 HGNC ENSG00000176566 186 0 0 119 47 28.3133 RBM12B 0 genome.wustl.edu 37 8 94748049 94748049 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 94748049 94748049 G A SNP RBM12B ENST00000399300 human ensembl 74_37 -1 known missense c.590 p.A197V 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 277 0 0 211 79 27.2414 CDH17 0 genome.wustl.edu 37 8 95178128 95178128 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 95178128 95178128 A G SNP CDH17 ENST00000027335 human ensembl 74_37 -1 known silent c.1143 p.I381 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH17 HGNC ENSG00000079112 124 0 0 97 36 27.0677 KIAA1429 0 genome.wustl.edu 37 8 95556148 95556148 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 95556148 95556148 A G SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.86 p.V29A 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 323 0 0 252 54 17.6471 DPY19L4 0 genome.wustl.edu 37 8 95782684 95782684 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 95782684 95782684 A G SNP DPY19L4 ENST00000414645 human ensembl 74_37 +1 known missense c.1339 p.K447E 0.602 pfam_Dpy-19 pfam_Dpy-19 - no_errors DPY19L4 HGNC ENSG00000156162 94 0 0 49 28 36.3636 INTS8 0 genome.wustl.edu 37 8 95892454 95892454 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 95892454 95892454 T C SNP INTS8 ENST00000523731 human ensembl 74_37 +1 known missense c.2980 p.Y994H 1.000 NULL NULL - no_errors INTS8 HGNC ENSG00000164941 69 0 0 96 8 7.69231 MATN2 0 genome.wustl.edu 37 8 98900443 98900443 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 98900443 98900443 C T SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.115 p.R39W 0.492 NULL pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 41 0 0 19 9 32.1429 MATN2 0 genome.wustl.edu 37 8 99019731 99019731 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 99019731 99019731 A G SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.1475 p.D492G 0.924 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 128 0 0 93 5 5.10204 CCDC180 0 genome.wustl.edu 37 9 100119941 100119941 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 100119941 100119941 A G SNP CCDC180 ENST00000375202 human ensembl 74_37 +1 known silent c.3429 p.L1143 0.998 NULL NULL - no_errors CCDC180 HGNC ENSG00000197816 341 0 0 181 83 31.4394 ANP32B 0 genome.wustl.edu 37 9 100767349 100767349 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 100767349 100767349 A G SNP ANP32B ENST00000339399 human ensembl 74_37 +1 known missense c.431 p.Y144C 1.000 smart_U2A'_phosphoprotein32A_C smart_U2A'_phosphoprotein32A_C - no_errors ANP32B HGNC ENSG00000136938 143 0 0 85 31 26.7241 TRIM14 0 genome.wustl.edu 37 9 100843480 100843480 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 100843480 100843480 T C SNP TRIM14 ENST00000478530 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM14 HGNC ENSG00000106785 32 0 0 10 5 33.3333 TBC1D2 0 genome.wustl.edu 37 9 100971115 100971115 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 100971115 100971115 C T SNP TBC1D2 ENST00000375066 human ensembl 74_37 -1 known missense c.1985 p.R662H 0.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Pleckstrin_homology,smart_Rab-GTPase-TBC_dom,pfscan_Pleckstrin_homology,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D2 HGNC ENSG00000095383 127 0 0 70 35 33.3333 GABBR2 0 genome.wustl.edu 37 9 101243237 101243237 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 101243237 101243237 T C SNP GABBR2 ENST00000259455 human ensembl 74_37 -1 known missense c.775 p.M259V 0.998 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3,pfscan_GPCR_3_C - no_errors GABBR2 HGNC ENSG00000136928 160 0 0 93 45 32.6087 COL15A1 0 genome.wustl.edu 37 9 101706341 101706341 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 101706341 101706341 G A SNP COL15A1 ENST00000467052 human ensembl 74_37 +1 putative rna NULL NULL 0.193 - - - no_errors COL15A1 HGNC ENSG00000204291 111 0 0 54 32 37.2093 TEX10 0 genome.wustl.edu 37 9 103111562 103111562 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 103111562 103111562 A G SNP TEX10 ENST00000374902 human ensembl 74_37 -1 known silent c.84 p.A28 0.994 NULL pfam_IPI1/TEX10,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors TEX10 HGNC ENSG00000136891 60 0 0 36 21 36.8421 DMRT2 0 genome.wustl.edu 37 9 1055749 1055749 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 1055749 1055749 A T SNP DMRT2 ENST00000259622 human ensembl 74_37 +1 known missense c.656 p.Y219F 0.994 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT2 HGNC ENSG00000173253 76 0 0 43 19 30.6452 OR13C5 0 genome.wustl.edu 37 9 107361324 107361324 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 107361324 107361324 A G SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known missense c.371 p.V124A 1.000 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 OR13C5 HGNC ENSG00000255800 260 0 0 200 15 6.97674 OR13C2 0 genome.wustl.edu 37 9 107367363 107367363 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 107367363 107367363 C T SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known silent c.546 p.L182 0.093 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 OR13C2 HGNC ENSG00000257019 346 0 0 157 54 25.5924 EPB41L4B 0 genome.wustl.edu 37 9 112027297 112027297 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 112027297 112027297 A T SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known missense c.541 p.F181I 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 78 0 0 43 8 15.6863 C9orf84 0 genome.wustl.edu 37 9 114538127 114538127 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 114538127 114538127 A G SNP C9orf84 ENST00000318737 human ensembl 74_37 -1 known missense c.194 p.V65A 0.249 NULL superfamily_RuvA_2-like - no_errors C9orf84 HGNC ENSG00000165181 171 0 0 82 26 24.0741 PTBP3 0 genome.wustl.edu 37 9 114986168 114986168 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 114986168 114986168 T C SNP PTBP3 ENST00000458258 human ensembl 74_37 -1 known missense c.1640 p.H547R 1.000 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 319 0 0 191 26 11.9816 ALAD 0 genome.wustl.edu 37 9 116153209 116153209 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 116153209 116153209 T C SNP ALAD ENST00000409155 human ensembl 74_37 -1 known missense c.266 p.E89G 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 102 0 0 76 6 7.31707 RGS3 0 genome.wustl.edu 37 9 116276764 116276764 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 116276764 116276764 T C SNP RGS3 ENST00000350696 human ensembl 74_37 +1 known missense c.1504 p.S502P 0.979 NULL pfam_RGS_dom,pfam_C2_dom,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_C2_dom,superfamily_PDZ,smart_C2_dom,smart_PDZ,smart_Regulat_G_prot_signal_superfam,pfscan_C2_dom,pfscan_PDZ,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS3 HGNC ENSG00000138835 128 0 0 93 6 6.06061 AMBP 0 genome.wustl.edu 37 9 116823776 116823776 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 116823776 116823776 A G SNP AMBP ENST00000265132 human ensembl 74_37 -1 known missense c.781 p.Y261H 0.996 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_A1-microglobln,prints_PstgldnD_synth,prints_Prot_inh_Kunz-m,prints_Lipocalin - no_errors AMBP HGNC ENSG00000106927 198 0 0 100 58 36.7089 KIF12 0 genome.wustl.edu 37 9 116857556 116857556 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 116857556 116857556 G A SNP KIF12 ENST00000374118 human ensembl 74_37 -1 known missense c.538 p.R180W 0.998 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 KIF12 HGNC ENSG00000136883 108 0 0 62 27 30.3371 C9orf91 0 genome.wustl.edu 37 9 117405489 117405489 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 117405489 117405489 G A SNP C9orf91 ENST00000374049 human ensembl 74_37 +1 known missense c.928 p.A310T 0.000 NULL NULL - no_errors C9orf91 HGNC ENSG00000157693 218 0 0 92 46 33.3333 GSN 0 genome.wustl.edu 37 9 124064424 124064424 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 124064424 124064424 T C SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.328 p.Y110H 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 166 1 0.598802 120 9 6.97674 PTGS1 0 genome.wustl.edu 37 9 125141137 125141137 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 125141137 125141137 T C SNP PTGS1 ENST00000362012 human ensembl 74_37 +1 known missense c.436 p.Y146H 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS1 HGNC ENSG00000095303 93 0 0 76 10 11.6279 OR1L6 0 genome.wustl.edu 37 9 125512494 125512494 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 125512494 125512494 G A SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known missense c.476 p.R159Q 0.976 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 OR1L6 HGNC ENSG00000171459 205 0 0 92 47 33.8129 OR1L6 0 genome.wustl.edu 37 9 125512544 125512544 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 125512544 125512544 C T SNP OR1L6 ENST00000373684 human ensembl 74_37 +1 known missense c.526 p.R176W 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 OR1L6 HGNC ENSG00000171459 307 0 0 206 20 8.84956 PDCL 0 genome.wustl.edu 37 9 125582652 125582652 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 125582652 125582652 G A SNP PDCL ENST00000259467 human ensembl 74_37 -1 known silent c.618 p.A206 0.000 pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin pfam_Phosducin_thioredoxin-like_dom,superfamily_Thioredoxin-like_fold,prints_Phosducin - no_errors PDCL HGNC ENSG00000136940 128 0 0 65 7 9.72222 RC3H2 0 genome.wustl.edu 37 9 125621378 125621378 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 125621378 125621378 T C SNP RC3H2 ENST00000357244 human ensembl 74_37 -1 known missense c.1853 p.Y618C 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 45 0 0 33 3 8.33333 ZBTB6 0 genome.wustl.edu 37 9 125673698 125673698 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 125673698 125673698 A G SNP ZBTB6 ENST00000373659 human ensembl 74_37 -1 known silent c.654 p.C218 1.000 NULL pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB6 HGNC ENSG00000186130 153 1 0.649351 68 24 26.087 DENND1A 0 genome.wustl.edu 37 9 126213008 126213008 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 126213008 126213008 C A SNP DENND1A ENST00000394219 human ensembl 74_37 -1 known missense c.1224 p.M408I 1.000 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 - no_errors DENND1A HGNC ENSG00000119522 64 0 0 50 5 9.09091 LHX2 0 genome.wustl.edu 37 9 126777427 126777427 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 126777427 126777427 G A SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.350 p.R117H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 229 1 0.434783 181 10 5.2356 WDR38 0 genome.wustl.edu 37 9 127618544 127618544 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 127618544 127618544 T C SNP WDR38 ENST00000373574 human ensembl 74_37 +1 known missense c.431 p.V144A 0.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR38 HGNC ENSG00000136918 119 0 0 58 4 6.45161 PPP6C 0 genome.wustl.edu 37 9 127920587 127920587 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 127920587 127920587 A G SNP PPP6C ENST00000451402 human ensembl 74_37 -1 known silent c.423 p.P141 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP6C HGNC ENSG00000119414 210 0 0 150 17 10.1796 GARNL3 0 genome.wustl.edu 37 9 130075748 130075748 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130075748 130075748 C T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known silent c.348 p.A116 0.967 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 196 0 0 102 37 26.6187 GARNL3 0 genome.wustl.edu 37 9 130117639 130117639 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130117639 130117639 G A SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.1823 p.R608Q 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 585 3 0.510204 322 145 31.0493 ZNF79 0 genome.wustl.edu 37 9 130206787 130206787 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130206787 130206787 A G SNP ZNF79 ENST00000342483 human ensembl 74_37 +1 known missense c.808 p.T270A 0.999 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF79 HGNC ENSG00000196152 208 0 0 126 7 5.26316 LRSAM1 0 genome.wustl.edu 37 9 130251732 130251732 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130251732 130251732 C T SNP LRSAM1 ENST00000300417 human ensembl 74_37 +1 known nonsense c.1357 p.Q453* 1.000 NULL pfam_Leu-rich_rpt,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_PTS_PEP_utilis_N,smart_Leu-rich_rpt_typical-subtyp,smart_SAM,pfscan_SAM,pfscan_Znf_RING - no_errors LRSAM1 HGNC ENSG00000148356 38 0 0 17 7 29.1667 FAM129B 0 genome.wustl.edu 37 9 130272565 130272565 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130272565 130272565 G A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.1021 p.P341S 1.000 NULL pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 287 0 0 157 59 27.3148 FAM102A 0 genome.wustl.edu 37 9 130707135 130707135 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130707135 130707135 G A SNP FAM102A ENST00000373095 human ensembl 74_37 -1 known silent c.960 p.D320 0.998 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 72 0 0 37 22 37.2881 FAM102A 0 genome.wustl.edu 37 9 130710444 130710444 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130710444 130710444 C T SNP FAM102A ENST00000373095 human ensembl 74_37 -1 known silent c.522 p.T174 0.954 NULL pfam_NT-C2 - no_errors FAM102A HGNC ENSG00000167106 139 0 0 75 41 35.3448 DNM1 0 genome.wustl.edu 37 9 130980867 130980867 + Missense_Mutation SNP C C G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130980867 130980867 C G SNP DNM1 ENST00000372923 human ensembl 74_37 +1 known missense c.242 p.A81G 1.000 pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_Dynamin_GTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM1 HGNC ENSG00000106976 86 0 0 57 5 8.06452 SPTAN1 0 genome.wustl.edu 37 9 131349934 131349934 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 131349934 131349934 G A SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.2828 p.G943D 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 87 0 0 38 31 44.9275 NUP188 0 genome.wustl.edu 37 9 131745643 131745643 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 131745643 131745643 C A SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.1868 p.A623D 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 227 0 0 154 10 6.09756 IER5L 0 genome.wustl.edu 37 9 131940298 131940298 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 131940298 131940298 T C SNP IER5L ENST00000372491 human ensembl 74_37 -1 known missense c.34 p.S12G 1.000 pfam_IER pfam_IER - no_errors IER5L HGNC ENSG00000188483 21 0 0 9 5 35.7143 ASS1 0 genome.wustl.edu 37 9 133352330 133352330 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 133352330 133352330 G A SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.670 p.E224K 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 289 0 0 163 71 30.3419 LAMC3 0 genome.wustl.edu 37 9 133952676 133952676 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 133952676 133952676 A G SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known silent c.3732 p.A1244 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 143 0 0 63 30 32.2581 NUP214 0 genome.wustl.edu 37 9 134020113 134020113 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 134020113 134020113 T C SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.1741 p.S581P 0.685 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 91 0 0 52 29 35.8025 NUP214 0 genome.wustl.edu 37 9 134073761 134073761 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 134073761 134073761 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.4883 p.G1628D 0.073 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 317 0 0 209 17 7.52212 SETX 0 genome.wustl.edu 37 9 135140330 135140330 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 135140330 135140330 G A SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.7417 p.R2473C 0.997 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 265 0 0 124 58 31.8681 CEL 0 genome.wustl.edu 37 9 135942495 135942495 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 135942495 135942495 C T SNP CEL ENST00000372080 human ensembl 74_37 +1 known silent c.807 p.C269 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 67 0 0 44 6 12 RPL7A 0 genome.wustl.edu 37 9 136217103 136217103 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 136217103 136217103 A G SNP RPL7A ENST00000323345 human ensembl 74_37 +1 known missense c.424 p.T142A 1.000 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 pfam_Ribosomal_L7Ae/L30e/S12e/Gad45,prints_Ribosomal_L7A/L8,prints_Ribosomal_L7Ae/L8/Nhp2 - no_errors RPL7A HGNC ENSG00000148303 70 0 0 35 8 18.6047 FAM163B 0 genome.wustl.edu 37 9 136444295 136444295 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 136444295 136444295 C T SNP FAM163B ENST00000356873 human ensembl 74_37 -1 known missense c.350 p.G117D 1.000 NULL NULL - no_errors FAM163B HGNC ENSG00000196990 16 0 0 6 4 40 VAV2 0 genome.wustl.edu 37 9 136640122 136640122 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 136640122 136640122 G A SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.2070 p.H690 0.992 pfam_SH2,smart_SH2,pfscan_SH2 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 - no_errors VAV2 HGNC ENSG00000160293 45 0 0 31 12 27.907 VAV2 0 genome.wustl.edu 37 9 136671273 136671273 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 136671273 136671273 T C SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known missense c.766 p.R256G 0.629 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-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 - no_errors VAV2 HGNC ENSG00000160293 35 0 0 22 5 18.5185 COL5A1 0 genome.wustl.edu 37 9 137623460 137623460 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 137623460 137623460 C T SNP COL5A1 ENST00000371817 human ensembl 74_37 +1 known missense c.1283 p.S428L 0.064 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 214 0 0 108 49 31.2102 GLT6D1 0 genome.wustl.edu 37 9 138516095 138516095 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 138516095 138516095 A G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.679 p.Y227H 0.740 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 230 0 0 139 15 9.74026 KCNT1 0 genome.wustl.edu 37 9 138594206 138594206 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 138594206 138594206 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.102 p.C34 0.046 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 73 0 0 43 18 29.5082 KCNT1 0 genome.wustl.edu 37 9 138662709 138662709 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 138662709 138662709 C T SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known silent c.1776 p.G592 0.953 pfam_K_chnl_Ca-activ_BK_asu pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 13 0 0 4 3 42.8571 KCNT1 0 genome.wustl.edu 37 9 138676625 138676625 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 138676625 138676625 G A SNP KCNT1 ENST00000298480 human ensembl 74_37 +1 known missense c.3046 p.D1016N 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT1 HGNC ENSG00000107147 164 1 0.606061 83 50 37.594 QSOX2 0 genome.wustl.edu 37 9 139100687 139100687 + Missense_Mutation SNP T T A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 139100687 139100687 T A SNP QSOX2 ENST00000358701 human ensembl 74_37 -1 known missense c.1984 p.S662C 1.000 NULL pfam_ERV/ALR_sulphydryl_oxidase,pfam_Thioredoxin_domain,superfamily_ERV/ALR_sulphydryl_oxidase,superfamily_Thioredoxin-like_fold - no_errors QSOX2 HGNC ENSG00000165661 352 0 0 136 93 40.6114 NOTCH1 0 genome.wustl.edu 37 9 139395173 139395173 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 139395173 139395173 T C SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known missense c.5765 p.N1922S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt-contain_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 314 0 0 207 14 6.33484 NOTCH1 0 genome.wustl.edu 37 9 139397686 139397686 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 139397686 139397686 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.5115 p.A1705 0.116 pfam_Notch_NODP_dom,pirsf_Notch pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 73 0 0 34 12 26.087 NOTCH1 0 genome.wustl.edu 37 9 139412692 139412692 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 139412692 139412692 G A SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.1152 p.G384 1.000 smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 28 0 0 14 2 12.5 TPRN 0 genome.wustl.edu 37 9 140093527 140093527 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 140093527 140093527 T C SNP TPRN ENST00000409012 human ensembl 74_37 -1 known missense c.1637 p.Y546C 1.000 NULL NULL - no_errors TPRN HGNC ENSG00000176058 199 1 0.5 109 11 9.16667 NDOR1 0 genome.wustl.edu 37 9 140110812 140110812 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 140110812 140110812 G A SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known missense c.1765 p.A589T 0.003 NULL pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 94 0 0 50 23 31.5068 PNPLA7 0 genome.wustl.edu 37 9 140400464 140400464 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 140400464 140400464 C T SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.1297 p.E433K 0.001 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 PNPLA7 HGNC ENSG00000130653 29 0 0 12 7 36.8421 PNPLA7 0 genome.wustl.edu 37 9 140435173 140435173 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 140435173 140435173 T C SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known missense c.668 p.D223G 0.997 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom 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 21 0 0 8 7 46.6667 CACNA1B 0 genome.wustl.edu 37 9 140850184 140850184 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 140850184 140850184 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.1105 p.R369C 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 24 0 0 16 7 30.4348 CACNA1B 0 genome.wustl.edu 37 9 140952269 140952269 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 140952269 140952269 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.4057 p.L1353F 1.000 pfam_Ion_trans_dom 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 43 0 0 14 11 44 CER1 0 genome.wustl.edu 37 9 14722635 14722635 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 14722635 14722635 C T SNP CER1 ENST00000380911 human ensembl 74_37 -1 known silent c.36 p.L12 0.388 pirsf_Cerberus pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Cerberus,pfscan_Cys_knot_C - no_errors CER1 HGNC ENSG00000147869 175 0 0 67 25 27.1739 ENSG00000232000 0 genome.wustl.edu 37 9 15047970 15047970 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 15047970 15047970 A G SNP ENSG00000232000 ENST00000609203 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-54D18.3 Clone_based_vega_gene ENSG00000232000 77 0 0 68 13 16.0494 TTC39B 0 genome.wustl.edu 37 9 15214159 15214159 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 15214159 15214159 C T SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known missense c.460 p.A154T 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 117 0 0 50 17 25.3731 CCDC171 0 genome.wustl.edu 37 9 15591502 15591502 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 15591502 15591502 G A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.491 p.R164Q 0.182 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 91 0 0 43 17 28.3333 CCDC171 0 genome.wustl.edu 37 9 15623365 15623365 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 15623365 15623365 T C SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.776 p.L259P 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 270 0 0 168 22 11.5789 CCDC171 0 genome.wustl.edu 37 9 15874651 15874651 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 15874651 15874651 T C SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3590 p.V1197A 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 171 0 0 91 32 26.0163 CBWD1 0 genome.wustl.edu 37 9 163985 163985 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 163985 163985 A G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known silent c.483 p.Y161 0.999 pfam_CobW/HypB/UreG_dom,superfamily_P-loop_NTPase pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_P-loop_NTPase,superfamily_Cbl_biosynth_CobW-like_C - no_errors CBWD1 HGNC ENSG00000172785 216 1 0.460829 155 28 15.3005 CNTLN 0 genome.wustl.edu 37 9 17394908 17394908 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 17394908 17394908 A T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.2456 p.Y819F 0.000 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 208 0 0 85 41 32.5397 CNTLN 0 genome.wustl.edu 37 9 17484474 17484474 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 17484474 17484474 A G SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.4037 p.Q1346R 0.997 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 155 0 0 71 28 28.2828 DENND4C 0 genome.wustl.edu 37 9 19372127 19372127 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 19372127 19372127 A G SNP DENND4C ENST00000602925 human ensembl 74_37 +1 known missense c.5686 p.S1896G 0.960 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 - no_errors DENND4C HGNC ENSG00000137145 238 0 0 125 51 28.9773 SLC24A2 0 genome.wustl.edu 37 9 19516300 19516300 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 19516300 19516300 T C SNP SLC24A2 ENST00000341998 human ensembl 74_37 -1 known missense c.1837 p.M613V 1.000 pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A2 HGNC ENSG00000155886 118 0 0 65 48 42.4779 MLLT3 0 genome.wustl.edu 37 9 20414298 20414298 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 20414298 20414298 A G SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.546 p.S182 0.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 154 0 0 93 12 11.4286 FOCAD 0 genome.wustl.edu 37 9 20885231 20885231 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 20885231 20885231 T C SNP FOCAD ENST00000338382 human ensembl 74_37 +1 known splice_site c.2625+2 e20+2 1.000 - - - no_errors FOCAD HGNC ENSG00000188352 194 0 0 84 44 34.375 KLHL9 0 genome.wustl.edu 37 9 21333894 21333894 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 21333894 21333894 T C SNP KLHL9 ENST00000359039 human ensembl 74_37 -1 known missense c.965 p.E322G 1.000 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 KLHL9 HGNC ENSG00000198642 209 0 0 131 18 12.0805 SMARCA2 0 genome.wustl.edu 37 9 2161854 2161854 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 2161854 2161854 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4150 p.T1384A 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 74 0 0 42 7 14.2857 PLAA 0 genome.wustl.edu 37 9 26935204 26935204 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 26935204 26935204 A G SNP PLAA ENST00000397292 human ensembl 74_37 -1 known silent c.150 p.S50 1.000 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_PUL,pfam_WD40_repeat,pfam_PLAA_fam_Ub-bd_PFU,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PLAA HGNC ENSG00000137055 142 0 0 97 6 5.82524 C9orf72 0 genome.wustl.edu 37 9 27560292 27560292 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 27560292 27560292 A C SNP C9orf72 ENST00000380003 human ensembl 74_37 -1 known missense c.671 p.I224S 1.000 NULL NULL - no_errors C9orf72 HGNC ENSG00000147894 52 0 0 40 20 33.3333 ACO1 0 genome.wustl.edu 37 9 32423340 32423340 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 32423340 32423340 T C SNP ACO1 ENST00000309951 human ensembl 74_37 +1 known missense c.994 p.Y332H 0.000 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase/Fe_reg_prot_2 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 ACO1 HGNC ENSG00000122729 170 0 0 99 7 6.60377 NFX1 0 genome.wustl.edu 37 9 33369964 33369964 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 33369964 33369964 C T SNP NFX1 ENST00000379540 human ensembl 74_37 +1 known silent c.3351 p.D1117 0.995 NULL pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd - no_errors NFX1 HGNC ENSG00000086102 68 0 0 32 15 31.9149 PRSS3 0 genome.wustl.edu 37 9 33796745 33796745 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 33796745 33796745 G T SNP PRSS3 ENST00000361005 human ensembl 74_37 +1 known missense c.316 p.G106C 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS3 HGNC ENSG00000010438 317 1 0.314465 177 49 21.6814 KIF24 0 genome.wustl.edu 37 9 34257342 34257342 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 34257342 34257342 G A SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.2263 p.P755S 0.007 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 399 0 0 190 91 32.3843 NUDT2 0 genome.wustl.edu 37 9 34343374 34343374 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 34343374 34343374 A G SNP NUDT2 ENST00000346365 human ensembl 74_37 +1 known missense c.380 p.Q127R 0.975 pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Tetra_PHTase - no_errors NUDT2 HGNC ENSG00000164978 130 0 0 81 10 10.989 KIAA1161 0 genome.wustl.edu 37 9 34371269 34371269 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 34371269 34371269 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.1571 p.A524V 0.439 pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 22 0 0 10 7 41.1765 KIAA1161 0 genome.wustl.edu 37 9 34372586 34372586 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 34372586 34372586 G A SNP KIAA1161 ENST00000297625 human ensembl 74_37 -1 known missense c.254 p.A85V 0.002 NULL pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF - no_errors KIAA1161 HGNC ENSG00000164976 26 0 0 18 2 10 DNAJB5 0 genome.wustl.edu 37 9 34996633 34996633 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 34996633 34996633 C T SNP DNAJB5 ENST00000454002 human ensembl 74_37 +1 known missense c.799 p.R267C 1.000 superfamily_HSP40/DnaJ_pept-bd pfam_DnaJ_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJB5 HGNC ENSG00000137094 62 0 0 36 7 16.2791 C9orf131 0 genome.wustl.edu 37 9 35045821 35045821 + Missense_Mutation SNP A A C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35045821 35045821 A C SNP C9orf131 ENST00000312292 human ensembl 74_37 +1 known missense c.3195 p.K1065N 0.000 NULL NULL - no_errors C9orf131 HGNC ENSG00000174038 342 2 0.581395 273 26 8.69565 ATP8B5P 0 genome.wustl.edu 37 9 35450007 35450007 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35450007 35450007 A G SNP ATP8B5P ENST00000430846 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors ATP8B5P HGNC ENSG00000179766 119 0 0 76 10 11.6279 TPM2 0 genome.wustl.edu 37 9 35689707 35689707 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35689707 35689707 G A SNP TPM2 ENST00000360958 human ensembl 74_37 -1 known silent c.108 p.C36 1.000 NULL pfam_Tropomyosin,prints_Tropomyosin - no_errors TPM2 HGNC ENSG00000198467 270 0 0 133 76 36.3636 CREB3 0 genome.wustl.edu 37 9 35736081 35736081 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35736081 35736081 G A SNP CREB3 ENST00000353704 human ensembl 74_37 +1 known missense c.648 p.M216I 0.982 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3 HGNC ENSG00000107175 266 0 0 162 67 29.2576 RGP1 0 genome.wustl.edu 37 9 35750330 35750330 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35750330 35750330 G A SNP RGP1 ENST00000456972 human ensembl 74_37 +1 known silent c.327 p.Q109 0.998 NULL pfam_Rgp1 - no_errors RGP1 HGNC ENSG00000107185 44 0 0 24 12 33.3333 SPAG8 0 genome.wustl.edu 37 9 35808152 35808152 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35808152 35808152 T C SNP SPAG8 ENST00000463889 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SPAG8 HGNC ENSG00000137098 193 0 0 98 48 32.8767 RECK 0 genome.wustl.edu 37 9 36121578 36121578 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 36121578 36121578 C T SNP RECK ENST00000377966 human ensembl 74_37 +1 known missense c.2587 p.R863C 1.000 NULL pfam_Kazal_dom,superfamily_Prot_inh_PMP,smart_Kazal_dom - no_errors RECK HGNC ENSG00000122707 249 1 0.4 108 51 32.0755 RNF38 0 genome.wustl.edu 37 9 36390590 36390590 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 36390590 36390590 T C SNP RNF38 ENST00000259605 human ensembl 74_37 -1 known silent c.36 p.A12 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 184 0 0 91 50 35.461 SLC25A51 0 genome.wustl.edu 37 9 37888367 37888367 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 37888367 37888367 A G SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.181 p.Y61H 0.997 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 - no_errors SLC25A51 HGNC ENSG00000122696 229 0 0 88 44 33.3333 CNTNAP3B 0 genome.wustl.edu 37 9 43822762 43822762 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 43822762 43822762 C T SNP CNTNAP3B ENST00000377564 human ensembl 74_37 +1 known missense c.1316 p.P439L 0.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 9 0 0 4 7 63.6364 JAK2 0 genome.wustl.edu 37 9 5089710 5089710 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 5089710 5089710 C T SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known missense c.2608 p.P870S 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_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak2,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK2 HGNC ENSG00000096968 172 0 0 72 23 24.2105 GLDC 0 genome.wustl.edu 37 9 6610292 6610292 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 6610292 6610292 A G SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.535 p.Y179H 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 45 0 0 31 4 11.4286 PGM5P2 0 genome.wustl.edu 37 9 69117758 69117758 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 69117758 69117758 A G SNP PGM5P2 ENST00000591037 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors PGM5P2 HGNC ENSG00000227558 149 0 0 78 24 23.5294 FOXD4L3 0 genome.wustl.edu 37 9 70919007 70919007 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 70919007 70919007 C T SNP FOXD4L3 ENST00000342833 human ensembl 74_37 +1 known silent c.1140 p.L380 0.847 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L3 HGNC ENSG00000187559 55 0 0 23 12 34.2857 KANK1 0 genome.wustl.edu 37 9 711135 711135 + Silent SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 711135 711135 C A SNP KANK1 ENST00000382297 human ensembl 74_37 +1 known silent c.369 p.P123 0.005 NULL pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors KANK1 HGNC ENSG00000107104 192 0 0 90 42 31.8182 SMC5 0 genome.wustl.edu 37 9 72897376 72897376 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 72897376 72897376 A G SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known silent c.858 p.K286 0.997 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 125 0 0 67 24 26.3736 TMEM2 0 genome.wustl.edu 37 9 74332984 74332984 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 74332984 74332984 T C SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.2279 p.H760R 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 222 0 0 158 16 9.1954 GDA 0 genome.wustl.edu 37 9 74842916 74842916 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 74842916 74842916 C T SNP GDA ENST00000238018 human ensembl 74_37 +1 known nonsense c.880 p.R294* 0.991 pfam_Amidohydro_1,tigrfam_Guanine_deaminase pfam_Amidohydro_1,tigrfam_Guanine_deaminase - no_errors GDA HGNC ENSG00000119125 32 0 0 13 10 43.4783 KIF27 0 genome.wustl.edu 37 9 86504088 86504088 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 86504088 86504088 G A SNP KIF27 ENST00000297814 human ensembl 74_37 -1 known silent c.1890 p.H630 0.002 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF27 HGNC ENSG00000165115 312 0 0 157 50 24.1546 NTRK2 0 genome.wustl.edu 37 9 87366958 87366958 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 87366958 87366958 T C SNP NTRK2 ENST00000277120 human ensembl 74_37 +1 known missense c.1354 p.F452L 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,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,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 116 0 0 82 6 6.81818 ZCCHC6 0 genome.wustl.edu 37 9 88938154 88938154 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 88938154 88938154 C A SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.2511 p.Q837H 0.000 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 137 0 0 82 9 9.89011 NOL8 0 genome.wustl.edu 37 9 95062252 95062252 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 95062252 95062252 C A SNP NOL8 ENST00000442668 human ensembl 74_37 -1 known missense c.3222 p.Q1074H 0.993 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors NOL8 HGNC ENSG00000198000 407 0 0 204 99 32.6733 IPPK 0 genome.wustl.edu 37 9 95400351 95400351 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 95400351 95400351 G A SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.848 p.P283L 0.000 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 27 0 0 13 9 40.9091 IPPK 0 genome.wustl.edu 37 9 95411818 95411818 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 95411818 95411818 A G SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.331 p.Y111H 0.999 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 109 0 0 80 12 13.0435 BICD2 0 genome.wustl.edu 37 9 95481493 95481493 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 95481493 95481493 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known silent c.1434 p.G478 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 118 0 0 72 9 11.1111 ZNF484 0 genome.wustl.edu 37 9 95609231 95609231 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 95609231 95609231 C T SNP ZNF484 ENST00000395506 human ensembl 74_37 -1 known missense c.1844 p.C615Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF484 HGNC ENSG00000127081 139 0 0 66 24 26.6667 C9orf3 0 genome.wustl.edu 37 9 97555117 97555117 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 97555117 97555117 C T SNP C9orf3 ENST00000375315 human ensembl 74_37 +1 known silent c.1035 p.C345 1.000 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold - no_errors C9orf3 HGNC ENSG00000148120 458 0 0 223 117 34.4118 ERCC6L2 0 genome.wustl.edu 37 9 98718286 98718286 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 98718286 98718286 A G SNP ERCC6L2 ENST00000437817 human ensembl 74_37 +1 known missense c.1404 p.I468M 0.495 pfam_HDA_complex_subunit-2/3,superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L2 HGNC ENSG00000182150 173 0 0 121 10 7.63359 CDC14B 0 genome.wustl.edu 37 9 99284802 99284802 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 99284802 99284802 G A SNP CDC14B ENST00000375241 human ensembl 74_37 -1 known silent c.1329 p.N443 0.000 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 147 0 0 87 38 30.4 ZNF782 0 genome.wustl.edu 37 9 99581062 99581062 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 99581062 99581062 T C SNP ZNF782 ENST00000481138 human ensembl 74_37 -1 known missense c.1243 p.T415A 0.996 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 ZNF782 HGNC ENSG00000196597 215 0 0 123 55 30.8989 DRP2 0 genome.wustl.edu 37 X 100515565 100515565 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 100515565 100515565 T C SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known silent c.2829 p.S943 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 450 0 0 316 22 6.50888 RPL36A 0 genome.wustl.edu 37 X 100646445 100646445 + Splice_Site SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 100646445 100646445 A G SNP RPL36A ENST00000427805 human ensembl 74_37 +1 known splice_site c.112-2 e2-2 1.000 - - - no_errors RPL36A HGNC ENSG00000241343 419 0 0 278 24 7.94702 HNRNPH2 0 genome.wustl.edu 37 X 100667240 100667240 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 100667240 100667240 T C SNP HNRNPH2 ENST00000316594 human ensembl 74_37 +1 known silent c.264 p.S88 0.997 pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CHHC,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPH2 HGNC ENSG00000126945 322 0 0 200 22 9.90991 TCEAL6 0 genome.wustl.edu 37 X 101395936 101395936 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 101395936 101395936 T G SNP TCEAL6 ENST00000372773 human ensembl 74_37 -1 known missense c.368 p.K123T 0.023 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL6 HGNC ENSG00000204071 274 1 0.363636 115 72 38.5027 GPRASP2 0 genome.wustl.edu 37 X 101969872 101969872 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 101969872 101969872 G A SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known silent c.75 p.G25 0.135 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 325 0 0 229 20 8.03213 GPRASP2 0 genome.wustl.edu 37 X 101970123 101970123 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 101970123 101970123 G A SNP GPRASP2 ENST00000332262 human ensembl 74_37 +1 known missense c.326 p.R109H 0.266 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP2 HGNC ENSG00000158301 407 0 0 181 88 32.7138 CXorf57 0 genome.wustl.edu 37 X 105883944 105883944 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 105883944 105883944 G A SNP CXorf57 ENST00000372548 human ensembl 74_37 +1 known missense c.1897 p.A633T 0.000 NULL superfamily_NA-bd_OB-fold - no_errors CXorf57 HGNC ENSG00000147231 200 0 0 116 10 7.93651 RBM41 0 genome.wustl.edu 37 X 106312575 106312575 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 106312575 106312575 A G SNP RBM41 ENST00000372479 human ensembl 74_37 -1 known missense c.985 p.F329L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM41 HGNC ENSG00000089682 399 0 0 264 14 5.03597 FRMPD3 0 genome.wustl.edu 37 X 106803511 106803511 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 106803511 106803511 C T SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.886 p.R296C 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 199 0 0 121 39 24.375 FRMPD3 0 genome.wustl.edu 37 X 106845696 106845696 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 106845696 106845696 A G SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.4526 p.Y1509C 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 153 0 0 94 6 6 TSC22D3 0 genome.wustl.edu 37 X 106957919 106957919 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 106957919 106957919 G T SNP TSC22D3 ENST00000315660 human ensembl 74_37 -1 known missense c.433 p.Q145K 1.000 pfam_TSC-22_Dip_Bun pfam_TSC-22_Dip_Bun - no_errors TSC22D3 HGNC ENSG00000157514 442 2 0.45045 232 115 33.1412 MID2 0 genome.wustl.edu 37 X 107148791 107148791 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 107148791 107148791 T C SNP MID2 ENST00000262843 human ensembl 74_37 +1 known silent c.1008 p.A336 0.774 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 422 0 0 205 95 31.6667 IRS4 0 genome.wustl.edu 37 X 107979483 107979483 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 107979483 107979483 G A SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known missense c.92 p.T31I 0.073 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 139 0 0 82 6 6.81818 TRPC5 0 genome.wustl.edu 37 X 111095589 111095589 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 111095589 111095589 C T SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.1314 p.M438I 1.000 pfam_Ion_trans_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 301 0 0 164 9 5.20231 TRPC5 0 genome.wustl.edu 37 X 111155755 111155755 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 111155755 111155755 G A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.664 p.R222C 1.000 pfam_TRP_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 504 1 0.19802 207 86 29.3515 LHFPL1 0 genome.wustl.edu 37 X 111914429 111914429 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 111914429 111914429 C T SNP LHFPL1 ENST00000371968 human ensembl 74_37 -1 known missense c.190 p.V64M 1.000 pfam_Lipome_HGMIC_fus_partner-like pfam_Lipome_HGMIC_fus_partner-like - no_errors LHFPL1 HGNC ENSG00000182508 350 0 0 214 14 6.14035 AMOT 0 genome.wustl.edu 37 X 112033828 112033828 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 112033828 112033828 A G SNP AMOT ENST00000371959 human ensembl 74_37 -1 known silent c.2109 p.A703 1.000 pfam_Angiomotin_C,prints_Angiomotin pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 796 0 0 421 159 27.4138 ENSG00000228532 0 genome.wustl.edu 37 X 114953364 114953364 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 114953364 114953364 G A SNP ENSG00000228532 ENST00000449327 human ensembl 74_37 -1 novel silent c.186 p.F62 0.999 pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Rad60/SUMO_like,pfam_Ubiquitin_dom,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors RP1-241P17.4 Clone_based_vega_gene ENSG00000228532 154 0 0 130 7 5.10949 KLHL13 0 genome.wustl.edu 37 X 117053538 117053538 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 117053538 117053538 A G SNP KLHL13 ENST00000539496 human ensembl 74_37 -1 known silent c.525 p.S175 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,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 KLHL13 HGNC ENSG00000003096 262 1 0.380228 122 58 32.2222 DOCK11 0 genome.wustl.edu 37 X 117677508 117677508 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 117677508 117677508 T C SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.344 p.V115A 0.997 pfam_DOCK_C/D_N pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 287 1 0.347222 143 74 34.1014 CXorf56 0 genome.wustl.edu 37 X 118694255 118694255 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 118694255 118694255 T C SNP CXorf56 ENST00000371594 human ensembl 74_37 -1 known missense c.218 p.D73G 0.992 NULL NULL - no_errors CXorf56 HGNC ENSG00000018610 365 0 0 298 24 7.45342 UPF3B 0 genome.wustl.edu 37 X 118972430 118972430 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 118972430 118972430 T C SNP UPF3B ENST00000276201 human ensembl 74_37 -1 known missense c.907 p.K303E 1.000 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3B HGNC ENSG00000125351 279 0 0 156 70 30.9735 RHOXF2B 0 genome.wustl.edu 37 X 119211110 119211110 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 119211110 119211110 C T SNP RHOXF2B ENST00000371402 human ensembl 74_37 -1 known missense c.223 p.G75R 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2B HGNC ENSG00000203989 112 0 0 51 19 27.1429 ZBTB33 0 genome.wustl.edu 37 X 119388375 119388375 + Nonsense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 119388375 119388375 G T SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known nonsense c.1105 p.G369* 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 350 0 0 244 13 5.05837 MCTS1 0 genome.wustl.edu 37 X 119742205 119742205 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 119742205 119742205 A G SNP MCTS1 ENST00000371315 human ensembl 74_37 +1 known missense c.391 p.T131A 1.000 pfam_PUA,superfamily_PUA-like_domain,smart_PUA,pirsf_Transl_RNA-bd_prd,pfscan_PUA,tigrfam_Uncharacterised_CHP00451 pfam_PUA,superfamily_PUA-like_domain,smart_PUA,pirsf_Transl_RNA-bd_prd,pfscan_PUA,tigrfam_Uncharacterised_CHP00451 - no_errors MCTS1 HGNC ENSG00000232119 194 0 0 151 11 6.79012 BCORL1 0 genome.wustl.edu 37 X 129147330 129147330 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 129147330 129147330 T C SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known silent c.582 p.T194 0.591 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 279 0 0 177 17 8.76289 BCORL1 0 genome.wustl.edu 37 X 129159178 129159178 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 129159178 129159178 T C SNP BCORL1 ENST00000303743 human ensembl 74_37 +1 known missense c.3902 p.M1301T 1.000 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 232 0 0 121 19 13.5714 RAB33A 0 genome.wustl.edu 37 X 129318513 129318513 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 129318513 129318513 T C SNP RAB33A ENST00000257017 human ensembl 74_37 +1 known silent c.513 p.D171 0.998 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,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,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 RAB33A HGNC ENSG00000134594 173 1 0.574713 86 33 27.7311 SLC25A14 0 genome.wustl.edu 37 X 129505599 129505599 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 129505599 129505599 T C SNP SLC25A14 ENST00000339231 human ensembl 74_37 +1 known missense c.1001 p.L334P 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 SLC25A14 HGNC ENSG00000102078 350 0 0 180 64 26.2295 ENSG00000207100 0 genome.wustl.edu 37 X 132286880 132286880 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 132286880 132286880 G A SNP ENSG00000207100 ENST00000384372 human ensembl 74_37 +1 novel rna NULL NULL 1.000 - - - no_errors SNORA8 RFAM ENSG00000207100 21 0 0 11 3 21.4286 FAM122C 0 genome.wustl.edu 37 X 133988192 133988192 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 133988192 133988192 G A SNP FAM122C ENST00000370784 human ensembl 74_37 +1 known missense c.514 p.A172T 0.001 NULL NULL - no_errors FAM122C HGNC ENSG00000156500 185 0 0 95 12 11.215 DDX26B 0 genome.wustl.edu 37 X 134711258 134711258 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 134711258 134711258 T C SNP DDX26B ENST00000370752 human ensembl 74_37 +1 known silent c.1914 p.P638 0.969 NULL pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 403 0 0 207 83 28.6207 GPR112 0 genome.wustl.edu 37 X 135494507 135494507 + Nonsense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 135494507 135494507 C T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known nonsense c.9019 p.R3007* 0.008 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 105 0 0 68 5 6.84932 HTATSF1 0 genome.wustl.edu 37 X 135582956 135582956 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 135582956 135582956 C T SNP HTATSF1 ENST00000218364 human ensembl 74_37 +1 known silent c.549 p.D183 0.999 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 247 1 0.403226 110 43 28.1046 ARHGEF6 0 genome.wustl.edu 37 X 135790867 135790867 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 135790867 135790867 T C SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known missense c.890 p.Q297R 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 98 0 0 56 21 27.2727 OFD1 0 genome.wustl.edu 37 X 13764477 13764477 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 13764477 13764477 C T SNP OFD1 ENST00000340096 human ensembl 74_37 +1 known missense c.557 p.A186V 0.001 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 141 1 0.704225 75 31 29.2453 CSF2RA 0 genome.wustl.edu 37 X 1409328 1409328 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 1409328 1409328 A G SNP CSF2RA ENST00000417535 human ensembl 74_37 +1 known missense c.572 p.Y191C 0.243 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 411 0 0 180 94 34.3066 MIR891A 0 genome.wustl.edu 37 X 145109341 145109341 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 145109341 145109341 A G SNP MIR891A ENST00000401237 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR891A HGNC ENSG00000216056 113 0 0 70 7 9.09091 DUSP9 0 genome.wustl.edu 37 X 152914972 152914972 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 152914972 152914972 C T SNP DUSP9 ENST00000342782 human ensembl 74_37 +1 known missense c.659 p.A220V 1.000 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP9 HGNC ENSG00000130829 223 0 0 113 48 29.8137 IDH3G 0 genome.wustl.edu 37 X 153052989 153052989 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153052989 153052989 C T SNP IDH3G ENST00000217901 human ensembl 74_37 -1 known missense c.604 p.E202K 0.998 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3G HGNC ENSG00000067829 118 0 0 76 18 19.1489 HCFC1 0 genome.wustl.edu 37 X 153222823 153222823 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153222823 153222823 C T SNP HCFC1 ENST00000310441 human ensembl 74_37 -1 known silent c.2295 p.T765 0.660 NULL pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors HCFC1 HGNC ENSG00000172534 388 1 0.257069 219 118 35.0148 MECP2 0 genome.wustl.edu 37 X 153296142 153296142 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153296142 153296142 G A SNP MECP2 ENST00000303391 human ensembl 74_37 -1 known silent c.1137 p.P379 0.000 pirsf_Me_CpG-bd_MeCP2 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,superfamily_Ig_E-set,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MeCP2,pfscan_Methyl_CpG_DNA-bd - no_errors MECP2 HGNC ENSG00000169057 82 0 0 53 7 11.6667 OPN1LW 0 genome.wustl.edu 37 X 153416152 153416152 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153416152 153416152 A G SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.137 p.H46R 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 237 0 0 138 28 16.8675 OPN1LW 0 genome.wustl.edu 37 X 153416196 153416196 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153416196 153416196 A G SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.181 p.I61V 0.937 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 361 0 0 207 43 17.2 OPN1LW 0 genome.wustl.edu 37 X 153416331 153416331 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153416331 153416331 G A SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known missense c.316 p.A106T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 406 0 0 259 23 8.15603 RPL10 0 genome.wustl.edu 37 X 153628915 153628915 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153628915 153628915 A G SNP RPL10 ENST00000344746 human ensembl 74_37 +1 known missense c.440 p.H147R 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10 HGNC ENSG00000147403 221 0 0 102 52 33.7662 PLXNA3 0 genome.wustl.edu 37 X 153698129 153698129 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 153698129 153698129 T C SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known splice_site c.4795+2 e27+2 1.000 - - - no_errors PLXNA3 HGNC ENSG00000130827 118 0 0 52 29 35.8025 VAMP7 0 genome.wustl.edu 37 X 155119126 155119126 + RNA SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 155119126 155119126 A G SNP VAMP7 ENST00000463317 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors VAMP7 HGNC ENSG00000124333 242 0 0 125 54 30.1676 ZRSR2 0 genome.wustl.edu 37 X 15841247 15841247 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 15841247 15841247 G A SNP ZRSR2 ENST00000307771 human ensembl 74_37 +1 known missense c.1331 p.R444Q 0.016 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR2 HGNC ENSG00000169249 34 0 0 22 6 21.4286 AP1S2 0 genome.wustl.edu 37 X 15864108 15864108 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 15864108 15864108 G A SNP AP1S2 ENST00000421527 human ensembl 74_37 -1 known missense c.332 p.A111V 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom pfam_AP_mu_sigma_su,superfamily_Longin-like_dom - no_errors AP1S2 HGNC ENSG00000182287 201 1 0.49505 92 42 31.3433 TXLNG 0 genome.wustl.edu 37 X 16859704 16859704 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 16859704 16859704 G A SNP TXLNG ENST00000380122 human ensembl 74_37 +1 known missense c.1402 p.A468T 0.003 NULL pfam_Taxilin_fam - no_errors TXLNG HGNC ENSG00000086712 121 0 0 84 12 12.5 AKAP17A 0 genome.wustl.edu 37 X 1712692 1712692 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 1712692 1712692 C T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known missense c.337 p.R113C 0.979 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 250 0 0 108 54 33.3333 ASMT 0 genome.wustl.edu 37 X 1746672 1746672 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 1746672 1746672 C T SNP ASMT ENST00000509780 human ensembl 74_37 +1 known rna NULL NULL 0.082 - - - no_errors ASMT HGNC ENSG00000196433 339 0 0 181 73 28.7402 NHS 0 genome.wustl.edu 37 X 17744154 17744154 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 17744154 17744154 C T SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.1865 p.S622L 1.000 NULL NULL - no_errors NHS HGNC ENSG00000188158 245 0 0 122 58 32.2222 BEND2 0 genome.wustl.edu 37 X 18234721 18234721 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 18234721 18234721 T G SNP BEND2 ENST00000380033 human ensembl 74_37 -1 known missense c.158 p.N53T 0.000 NULL pfam_BEN_domain - no_errors BEND2 HGNC ENSG00000177324 168 0 0 79 40 33.6134 CDKL5 0 genome.wustl.edu 37 X 18631319 18631319 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 18631319 18631319 A G SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known missense c.2200 p.T734A 0.999 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 318 0 0 146 80 35.3982 PHKA2 0 genome.wustl.edu 37 X 18913427 18913427 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 18913427 18913427 T C SNP PHKA2 ENST00000481718 human ensembl 74_37 -1 known rna NULL NULL 0.811 - - - no_errors PHKA2 HGNC ENSG00000044446 71 0 0 24 13 35.1351 PLCXD1 0 genome.wustl.edu 37 X 209706 209706 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 209706 209706 T C SNP PLCXD1 ENST00000381657 human ensembl 74_37 +1 known missense c.554 p.V185A 0.659 superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_PInositol-sp_X_dom - no_errors PLCXD1 HGNC ENSG00000182378 65 0 0 27 5 15.625 ZFX 0 genome.wustl.edu 37 X 24228590 24228590 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 24228590 24228590 T C SNP ZFX ENST00000540034 human ensembl 74_37 +1 known silent c.1632 p.T544 0.985 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Transcrp_activ_Zfx/Zfy-dom,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFX HGNC ENSG00000005889 197 0 0 117 57 32.7586 PDK3 0 genome.wustl.edu 37 X 24549780 24549780 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 24549780 24549780 T C SNP PDK3 ENST00000441463 human ensembl 74_37 +1 known missense c.970 p.F324L 1.000 pfam_HATPase_ATP-bd,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core pfam_BCDHK/PDK_N,pfam_HATPase_ATP-bd,superfamily_BCDHK/PDK_N,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,pfscan_Sig_transdc_His_kinase_core - no_errors PDK3 HGNC ENSG00000067992 285 0 0 163 86 34.5382 PCYT1B 0 genome.wustl.edu 37 X 24608229 24608229 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 24608229 24608229 A T SNP PCYT1B ENST00000379144 human ensembl 74_37 -1 known missense c.397 p.Y133N 1.000 pfam_Cyt_trans-like,tigrfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT1B HGNC ENSG00000102230 80 0 0 32 18 36 GYG2 0 genome.wustl.edu 37 X 2773049 2773049 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 2773049 2773049 G A SNP GYG2 ENST00000381163 human ensembl 74_37 +1 known missense c.433 p.D145N 0.992 pfam_Glyco_trans_8 pfam_Glyco_trans_8 - no_errors GYG2 HGNC ENSG00000056998 129 0 0 68 17 20 DCAF8L2 0 genome.wustl.edu 37 X 27766824 27766824 + Silent SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 27766824 27766824 A G SNP DCAF8L2 ENST00000451261 human ensembl 74_37 +1 known silent c.1812 p.P604 0.026 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L2 HGNC ENSG00000189186 39 0 0 9 5 35.7143 ARSE 0 genome.wustl.edu 37 X 2854853 2854853 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 2854853 2854853 G A SNP ARSE ENST00000545496 human ensembl 74_37 -1 known silent c.1416 p.H472 0.505 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ARSE HGNC ENSG00000157399 81 0 0 63 4 5.97015 GK 0 genome.wustl.edu 37 X 30686191 30686191 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 30686191 30686191 G A SNP GK ENST00000378943 human ensembl 74_37 +1 known missense c.215 p.C72Y 1.000 pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin - no_errors GK HGNC ENSG00000198814 109 0 0 68 13 16.0494 MXRA5 0 genome.wustl.edu 37 X 3228469 3228469 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 3228469 3228469 C T SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known missense c.7775 p.R2592H 0.038 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MXRA5 HGNC ENSG00000101825 31 0 0 15 6 28.5714 DMD 0 genome.wustl.edu 37 X 32613901 32613901 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 32613901 32613901 T C SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.1575 p.A525 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 93 0 0 41 21 33.871 DMD 0 genome.wustl.edu 37 X 32613904 32613904 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 32613904 32613904 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.1572 p.H524 0.043 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 93 0 0 45 15 25 CXorf22 0 genome.wustl.edu 37 X 35969405 35969405 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 35969405 35969405 G A SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.814 p.V272I 0.000 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 95 0 0 56 21 27.2727 FAM47C 0 genome.wustl.edu 37 X 37027011 37027011 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 37027011 37027011 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known silent c.528 p.T176 0.000 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 80 0 0 28 14 33.3333 CXorf27 0 genome.wustl.edu 37 X 37850373 37850373 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 37850373 37850373 A G SNP CXorf27 ENST00000341016 human ensembl 74_37 +1 known missense c.281 p.E94G 0.001 superfamily_Histone-fold superfamily_Histone-fold - no_errors CXorf27 HGNC ENSG00000187516 73 0 0 43 19 30.6452 BCOR 0 genome.wustl.edu 37 X 39932568 39932568 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 39932568 39932568 T C SNP BCOR ENST00000378444 human ensembl 74_37 -1 known silent c.2031 p.G677 0.981 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 69 0 0 18 10 35.7143 BCOR 0 genome.wustl.edu 37 X 39934153 39934153 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 39934153 39934153 T C SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.446 p.Y149C 1.000 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 119 0 0 80 6 6.97674 ATP6AP2 0 genome.wustl.edu 37 X 40456500 40456500 + Splice_Site SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 40456500 40456500 G T SNP ATP6AP2 ENST00000378438 human ensembl 74_37 +1 known splice_site c.301-1 e4-1 1.000 - - - no_errors ATP6AP2 HGNC ENSG00000182220 150 0 0 101 11 9.82143 USP9X 0 genome.wustl.edu 37 X 41000617 41000617 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 41000617 41000617 T C SNP USP9X ENST00000324545 human ensembl 74_37 +1 known missense c.1094 p.V365A 0.999 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 56 0 0 21 13 38.2353 DDX3X 0 genome.wustl.edu 37 X 41201791 41201791 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 41201791 41201791 C T SNP DDX3X ENST00000399959 human ensembl 74_37 +1 known missense c.328 p.R110C 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 DDX3X HGNC ENSG00000215301 157 0 0 87 29 25 NYX 0 genome.wustl.edu 37 X 41331639 41331639 + RNA SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 41331639 41331639 T C SNP NYX ENST00000486842 human ensembl 74_37 +1 known rna NULL NULL 0.958 - - - no_errors NYX HGNC ENSG00000188937 61 0 0 21 6 22.2222 ELK1 0 genome.wustl.edu 37 X 47497513 47497513 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 47497513 47497513 G A SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known silent c.723 p.G241 0.019 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 65 0 0 27 12 30.7692 ELK1 0 genome.wustl.edu 37 X 47497563 47497563 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 47497563 47497563 C T SNP ELK1 ENST00000247161 human ensembl 74_37 -1 known missense c.673 p.E225K 0.984 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK1 HGNC ENSG00000126767 40 0 0 26 6 18.75 ZNF81 0 genome.wustl.edu 37 X 47774714 47774714 + Silent SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 47774714 47774714 T C SNP ZNF81 ENST00000338637 human ensembl 74_37 +1 known silent c.669 p.H223 0.160 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 ZNF81 HGNC ENSG00000197779 201 1 0.49505 96 36 27.2727 SUV39H1 0 genome.wustl.edu 37 X 48558747 48558747 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 48558747 48558747 G A SNP SUV39H1 ENST00000337852 human ensembl 74_37 +1 known missense c.464 p.R155H 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pirsf_Histone_H3-K9_MeTrfase pfam_SET_dom,pfam_Pre-SET_dom,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,smart_Post-SET_dom,pirsf_Histone_H3-K9_MeTrfase,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom,pfscan_Chromo_domain/shadow - no_errors SUV39H1 HGNC ENSG00000101945 86 0 0 43 19 30.6452 GATA1 0 genome.wustl.edu 37 X 48649665 48649665 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 48649665 48649665 C T SNP GATA1 ENST00000376670 human ensembl 74_37 +1 known missense c.149 p.P50L 0.001 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA1 HGNC ENSG00000102145 28 0 0 12 3 20 HDAC6 0 genome.wustl.edu 37 X 48673824 48673824 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 48673824 48673824 G A SNP HDAC6 ENST00000444343 human ensembl 74_37 +1 known missense c.1225 p.V409I 0.996 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 26 0 0 22 10 31.25 CCDC22 0 genome.wustl.edu 37 X 49093645 49093645 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 49093645 49093645 C T SNP CCDC22 ENST00000376227 human ensembl 74_37 +1 known missense c.143 p.A48V 0.051 pfam_DUF812 pfam_DUF812 - no_errors CCDC22 HGNC ENSG00000101997 119 0 0 56 24 30 AKAP4 0 genome.wustl.edu 37 X 49958505 49958505 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 49958505 49958505 G A SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.859 p.R287C 0.978 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 127 0 0 51 30 37.037 GPR173 0 genome.wustl.edu 37 X 53106197 53106197 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 53106197 53106197 G A SNP GPR173 ENST00000332582 human ensembl 74_37 +1 known missense c.394 p.A132T 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR173 HGNC ENSG00000184194 140 0 0 56 36 39.1304 KDM5C 0 genome.wustl.edu 37 X 53227772 53227772 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 53227772 53227772 A G SNP KDM5C ENST00000375401 human ensembl 74_37 -1 known missense c.2416 p.F806L 1.000 pfam_Lys_sp_deMease_like_dom pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5C HGNC ENSG00000126012 66 0 0 24 11 31.4286 HUWE1 0 genome.wustl.edu 37 X 53630414 53630414 + Silent SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 53630414 53630414 G A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known silent c.2791 p.L931 0.998 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 93 0 0 35 18 33.9623 WNK3 0 genome.wustl.edu 37 X 54224914 54224914 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 54224914 54224914 C T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.5246 p.G1749E 0.829 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 87 0 0 42 17 28.8136 WNK3 0 genome.wustl.edu 37 X 54263437 54263437 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 54263437 54263437 C T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.4562 p.S1521N 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 520 0 0 258 103 28.5319 WNK3 0 genome.wustl.edu 37 X 54319444 54319444 + Silent SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 54319444 54319444 C T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known silent c.1914 p.Q638 0.949 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 99 0 0 42 16 27.5862 APEX2 0 genome.wustl.edu 37 X 55029534 55029534 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 55029534 55029534 G A SNP APEX2 ENST00000374987 human ensembl 74_37 +1 known missense c.562 p.A188T 0.981 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 pfam_Endo/exonuclease/phosphatase,pfam_Znf_GRF,superfamily_Endo/exonuclease/phosphatase,tigrfam_AP_endonuc_1 - no_errors APEX2 HGNC ENSG00000169188 90 0 0 40 22 35.4839 ENSG00000232765 0 genome.wustl.edu 37 X 55315182 55315182 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 55315182 55315182 G A SNP ENSG00000232765 ENST00000440645 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-382F24.2 Clone_based_vega_gene ENSG00000232765 21 0 0 10 7 41.1765 USP51 0 genome.wustl.edu 37 X 55514918 55514918 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 55514918 55514918 C T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.455 p.R152H 0.030 NULL pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 39 0 0 14 6 30 FAAH2 0 genome.wustl.edu 37 X 57337164 57337164 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 57337164 57337164 T C SNP FAAH2 ENST00000374900 human ensembl 74_37 +1 known splice_site c.412+2 e3+2 0.736 - - - no_errors FAAH2 HGNC ENSG00000165591 131 0 0 44 21 32.3077 SPIN4 0 genome.wustl.edu 37 X 62570001 62570001 + Missense_Mutation SNP T T G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 62570001 62570001 T G SNP SPIN4 ENST00000335144 human ensembl 74_37 -1 known missense c.698 p.K233T 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN4 HGNC ENSG00000186767 188 0 0 103 13 11.2069 HEPH 0 genome.wustl.edu 37 X 65415012 65415012 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 65415012 65415012 G T SNP HEPH ENST00000519389 human ensembl 74_37 +1 known missense c.1604 p.S535I 1.000 pfam_Cu-oxidase_3,superfamily_Cupredoxin pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 110 0 0 45 17 27.4194 OPHN1 0 genome.wustl.edu 37 X 67333078 67333078 + Missense_Mutation SNP A A T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 67333078 67333078 A T SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.1365 p.N455K 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 72 0 0 62 5 7.46269 CITED1 0 genome.wustl.edu 37 X 71522015 71522015 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 71522015 71522015 T C SNP CITED1 ENST00000431381 human ensembl 74_37 -1 known missense c.218 p.Y73C 0.999 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 19 0 0 9 5 35.7143 XIST 0 genome.wustl.edu 37 X 73044491 73044491 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 73044491 73044491 C T SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors XIST HGNC ENSG00000229807 39 0 0 14 11 44 XIST 0 genome.wustl.edu 37 X 73046077 73046077 + RNA SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 73046077 73046077 C T SNP XIST ENST00000416330 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors XIST HGNC ENSG00000229807 210 0 0 108 39 26.5306 XIST 0 genome.wustl.edu 37 X 73071875 73071875 + RNA SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 73071875 73071875 G A SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.924 - - - no_errors XIST HGNC ENSG00000229807 38 0 0 13 6 31.5789 KIAA2022 0 genome.wustl.edu 37 X 73961874 73961874 + Missense_Mutation SNP G G T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 73961874 73961874 G T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.2518 p.Q840K 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 320 0 0 193 16 7.6555 ABCB7 0 genome.wustl.edu 37 X 74318830 74318830 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 74318830 74318830 G A SNP ABCB7 ENST00000253577 human ensembl 74_37 -1 known missense c.403 p.P135S 1.000 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB7 HGNC ENSG00000131269 214 0 0 111 49 30.625 ATRX 0 genome.wustl.edu 37 X 76875932 76875932 + Missense_Mutation SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 76875932 76875932 T C SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.5203 p.M1735V 1.000 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,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 55 0 0 40 4 9.09091 LPAR4 0 genome.wustl.edu 37 X 78010974 78010974 + Missense_Mutation SNP A A G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 78010974 78010974 A G SNP LPAR4 ENST00000435339 human ensembl 74_37 +1 known missense c.608 p.K203R 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors LPAR4 HGNC ENSG00000147145 185 0 0 89 30 25.2101 SATL1 0 genome.wustl.edu 37 X 84363505 84363505 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 84363505 84363505 C T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.470 p.G157D 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 93 0 0 62 8 11.4286 CHM 0 genome.wustl.edu 37 X 85218946 85218946 + Missense_Mutation SNP C C A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 85218946 85218946 C A SNP CHM ENST00000357749 human ensembl 74_37 -1 known missense c.426 p.E142D 0.001 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHM HGNC ENSG00000188419 174 0 0 119 22 15.6028 DIAPH2 0 genome.wustl.edu 37 X 96213149 96213149 + Splice_Site SNP T T C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 96213149 96213149 T C SNP DIAPH2 ENST00000324765 human ensembl 74_37 +1 known splice_site c.1935+2 e16+2 1.000 - - - no_errors DIAPH2 HGNC ENSG00000147202 102 0 0 71 7 8.97436 SHROOM2 0 genome.wustl.edu 37 X 9900831 9900831 + Missense_Mutation SNP C C T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 9900831 9900831 C T SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.3508 p.R1170C 0.972 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 139 0 0 71 28 28.2828 SRPX2 0 genome.wustl.edu 37 X 99919891 99919891 + Missense_Mutation SNP G G A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 99919891 99919891 G A SNP SRPX2 ENST00000373004 human ensembl 74_37 +1 known missense c.476 p.R159H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Thioredoxin-like_fold,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX2 HGNC ENSG00000102359 31 0 0 14 7 33.3333 SASS6 0 genome.wustl.edu 37 1 100588802 100588802 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 57 0 0 31 3 8.82353 EXTL2 0 genome.wustl.edu 37 1 101354290 101354290 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 101354290 101354290 A - DEL EXTL2 ENST00000480774 human ensembl 74_37 -1 known rna NULL NULL 0.231 - - - no_errors EXTL2 HGNC ENSG00000162694 31 0 0 14 7 33.3333 COL11A1 0 genome.wustl.edu 37 1 103364506 103364506 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 103364506 103364506 T - DEL COL11A1 ENST00000358392 human ensembl 74_37 -1 known frame_shift_del c.4167 p.G1390fs 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 80 0 0 56 8 12.5 AMPD2 0 genome.wustl.edu 37 1 110169810 110169810 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 110169810 110169810 C - DEL AMPD2 ENST00000256578 human ensembl 74_37 +1 known frame_shift_del c.894 p.P300fs 1.000 pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD2 HGNC ENSG00000116337 180 0 0 102 27 20.9302 GSTM3 0 genome.wustl.edu 37 1 110279894 110279894 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 110279894 110279894 T - DEL GSTM3 ENST00000476321 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors GSTM3 HGNC ENSG00000134202 17 0 0 7 6 46.1538 CEPT1 0 genome.wustl.edu 37 1 111690320 111690320 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 111690320 111690320 A - DEL CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 69 0 0 25 10 28.5714 SYCP1 0 genome.wustl.edu 37 1 115537601 115537601 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 115537601 115537601 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2892 p.K967fs 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 137 0 0 99 30 23.2558 ATP1A1 0 genome.wustl.edu 37 1 116936320 116936320 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 116936320 116936320 G - DEL ATP1A1 ENST00000295598 human ensembl 74_37 +1 known frame_shift_del c.1635 p.G547fs 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A1 HGNC ENSG00000163399 106 0 0 52 7 11.8644 VPS13D 0 genome.wustl.edu 37 1 12364654 12364655 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 12364654 12364655 - G INS VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_ins c.6308_6309 p.Q2105fs 0.742:0.915 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 129 0 0 84 26 23.6364 NBPF10 0 genome.wustl.edu 37 1 145367737 145367737 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 145367737 145367737 A - DEL NBPF10 ENST00000342960 human ensembl 74_37 +1 known frame_shift_del c.10333 p.R3447fs 0.003 NULL pfam_NBPF_dom - no_errors NBPF10 HGNC ENSG00000163386 227 0 0 175 11 5.91398 MTMR11 0 genome.wustl.edu 37 1 149900986 149900989 + RNA DEL AAAA AAAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 149900986 149900989 AAAA - DEL MTMR11 ENST00000466496 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.002:0.003:0.001 - - - no_errors MTMR11 HGNC ENSG00000014914 138 0 0 57 18 24 RPRD2 0 genome.wustl.edu 37 1 150445908 150445908 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 150445908 150445908 T - DEL RPRD2 ENST00000492220 human ensembl 74_37 +1 known rna NULL NULL 0.276 - - - no_errors RPRD2 HGNC ENSG00000163125 30 0 0 9 6 40 HORMAD1 0 genome.wustl.edu 37 1 150686529 150686529 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 150686529 150686529 A - DEL HORMAD1 ENST00000476530 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors HORMAD1 HGNC ENSG00000143452 60 0 0 28 10 26.3158 SELENBP1 0 genome.wustl.edu 37 1 151341565 151341568 + Frame_Shift_Del DEL GTGC GTGC - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GTGC GTGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 151341565 151341568 GTGC - DEL SELENBP1 ENST00000426705 human ensembl 74_37 -1 known frame_shift_del c.401_398 p.R133fs 0.999:1.000:1.000:1.000 pfam_Se-bd pfam_Se-bd - no_errors SELENBP1 HGNC ENSG00000143416 148 1 0.671141 99 14 12.3894 TDRD10 0 genome.wustl.edu 37 1 154520288 154520288 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 154520288 154520288 A - DEL TDRD10 ENST00000479937 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors TDRD10 HGNC ENSG00000163239 53 0 0 28 8 22.2222 GON4L 0 genome.wustl.edu 37 1 155785777 155785778 + RNA DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 155785777 155785778 AA - DEL GON4L ENST00000471341 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors GON4L HGNC ENSG00000116580 14 0 0 6 3 33.3333 KCNJ10 0 genome.wustl.edu 37 1 160012018 160012018 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 160012018 160012018 G - DEL KCNJ10 ENST00000368089 human ensembl 74_37 -1 known frame_shift_del c.305 p.P102fs 0.995 pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.2,prints_K_chnl_inward-rec_Kir1.1 - no_errors KCNJ10 HGNC ENSG00000177807 194 0 0 96 25 20.6612 ATP1A2 0 genome.wustl.edu 37 1 160100055 160100056 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 160100055 160100056 - G INS ATP1A2 ENST00000361216 human ensembl 74_37 +1 known frame_shift_ins c.1625_1626 p.L545fs 1.000:1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 191 0 0 111 25 18.3824 NCSTN 0 genome.wustl.edu 37 1 160313199 160313199 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 160313199 160313199 G - DEL NCSTN ENST00000294785 human ensembl 74_37 +1 known frame_shift_del c.13 p.G6fs 0.915 NULL pfam_Nicastrin - no_errors NCSTN HGNC ENSG00000162736 61 0 0 38 5 11.6279 HSPA6 0 genome.wustl.edu 37 1 161495044 161495044 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 161495044 161495044 T - DEL HSPA6 ENST00000309758 human ensembl 74_37 +1 known frame_shift_del c.596 p.F200fs 0.995 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA6 HGNC ENSG00000173110 98 0 0 52 14 21.2121 POU2F1 0 genome.wustl.edu 37 1 167368478 167368478 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 167368478 167368478 A - DEL POU2F1 ENST00000367866 human ensembl 74_37 +1 known frame_shift_del c.1325 p.E444fs 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU,prints_TF_octamer - no_errors POU2F1 HGNC ENSG00000143190 235 0 0 121 41 25.3086 SCYL3 0 genome.wustl.edu 37 1 169823471 169823472 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 169823471 169823472 - T INS SCYL3 ENST00000367770 human ensembl 74_37 -1 known frame_shift_ins c.2109_2108 p.D704fs 0.001:0.001 NULL 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_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 251 0 0 151 17 10.119 ABL2 0 genome.wustl.edu 37 1 179077894 179077894 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 179077894 179077894 T - DEL ABL2 ENST00000502732 human ensembl 74_37 -1 known frame_shift_del c.2508 p.K836fs 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 219 0 0 119 36 23.2258 KIAA1614 0 genome.wustl.edu 37 1 180905051 180905051 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 180905051 180905051 G - DEL KIAA1614 ENST00000367588 human ensembl 74_37 +1 known frame_shift_del c.2006 p.G670fs 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 170 1 0.584795 81 38 31.9328 GLUL 0 genome.wustl.edu 37 1 182355541 182355542 + RNA INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 182355541 182355542 - A INS GLUL ENST00000491322 human ensembl 74_37 -1 known rna NULL NULL 0.011:0.265 - - - no_errors GLUL HGNC ENSG00000135821 270 0 0 146 48 24.7423 HMCN1 0 genome.wustl.edu 37 1 186094843 186094843 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 186094843 186094843 A - DEL HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_del c.12607 p.D4205fs 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,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 171 0 0 79 31 28.1818 PRG4 0 genome.wustl.edu 37 1 186277364 186277364 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 186277364 186277364 C - DEL PRG4 ENST00000445192 human ensembl 74_37 +1 known frame_shift_del c.2513 p.K840fs 0.000 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 636 0 0 393 55 12.2768 TROVE2 0 genome.wustl.edu 37 1 193053997 193053999 + RNA DEL AAA AAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 193053997 193053999 AAA - DEL TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002:0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 22 0 0 5 4 44.4444 DDX59 0 genome.wustl.edu 37 1 200594042 200594042 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 117 0 0 75 21 21.875 KDM5B 0 genome.wustl.edu 37 1 202710852 202710853 + Splice_Site INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 202710852 202710853 - A INS KDM5B ENST00000367264 human ensembl 74_37 -1 known splice_site_ins c.2698-3_2698-2 e20-2 1.000:0.010 - - - no_errors KDM5B HGNC ENSG00000117139 68 0 0 48 7 12.7273 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 109 0 0 73 20 21.5054 DYRK3 0 genome.wustl.edu 37 1 206821441 206821441 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 206821441 206821441 A - DEL DYRK3 ENST00000367109 human ensembl 74_37 +1 known frame_shift_del c.898 p.N302fs 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 290 0 0 158 58 26.8519 CD34 0 genome.wustl.edu 37 1 208063101 208063102 + Frame_Shift_Del DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 208063101 208063102 AA - DEL CD34 ENST00000367036 human ensembl 74_37 -1 known frame_shift_del c.82_81 p.S28fs 0.000:0.000 NULL pfam_CD34/Podocalyxin,prints_CD34 - no_errors CD34 HGNC ENSG00000174059 48 0 0 22 8 26.6667 DUSP10 0 genome.wustl.edu 37 1 221875678 221875678 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 221875678 221875678 A - DEL DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors DUSP10 HGNC ENSG00000143507 155 0 0 89 6 6.31579 ACBD3 0 genome.wustl.edu 37 1 226352491 226352491 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 226352491 226352491 T - DEL ACBD3 ENST00000366812 human ensembl 74_37 -1 known frame_shift_del c.568 p.R190fs 1.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ENSG00000182827 155 0 0 92 36 28.125 ARF1 0 genome.wustl.edu 37 1 228284858 228284858 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 228284858 228284858 A - DEL ARF1 ENST00000272102 human ensembl 74_37 +1 known frame_shift_del c.43 p.E17fs 1.000 pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_Gprotein_alpha_su,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors ARF1 HGNC ENSG00000143761 154 0 0 100 24 19.3548 TBCE 0 genome.wustl.edu 37 1 235605063 235605064 + RNA INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 235605063 235605064 - T INS TBCE ENST00000465463 human ensembl 74_37 +1 known rna NULL NULL 0.003:0.004 - - - no_errors TBCE HGNC ENSG00000116957 40 0 0 16 15 48.3871 HEATR1 0 genome.wustl.edu 37 1 236737472 236737472 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 236737472 236737472 A - DEL HEATR1 ENST00000490339 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors HEATR1 HGNC ENSG00000119285 180 0 0 115 32 21.7687 RYR2 0 genome.wustl.edu 37 1 237969494 237969494 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 87 0 0 37 15 28.8462 TCEB3 0 genome.wustl.edu 37 1 24078404 24078404 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 374 0 0 200 54 21.2598 MYOM3 0 genome.wustl.edu 37 1 24397622 24397624 + In_Frame_Del DEL CTC CTC - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 24397622 24397624 CTC - DEL MYOM3 ENST00000330966 human ensembl 74_37 -1 known in_frame_del c.3138_3136 p.E1046in_frame_del 1.000:1.000:1.000 smart_Ig_sub 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 MYOM3 HGNC ENSG00000142661 104 0 0 57 21 26.9231 KIF26B 0 genome.wustl.edu 37 1 245847605 245847605 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 245847605 245847605 C - DEL KIF26B ENST00000407071 human ensembl 74_37 +1 known frame_shift_del c.2329 p.H777fs 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 139 0 0 76 14 15.5556 MAN1C1 0 genome.wustl.edu 37 1 26104628 26104629 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 26104628 26104629 - G INS MAN1C1 ENST00000374332 human ensembl 74_37 +1 known frame_shift_ins c.1290_1291 p.L432fs 0.002:0.998 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 92 0 0 58 19 24.6753 ARID1A 0 genome.wustl.edu 37 1 27106804 27106804 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 27106804 27106804 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.6415 p.F2141fs 0.999 pfam_DUF3518,superfamily_ARM-type_fold 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 233 0 0 162 34 17.3469 EPB41 0 genome.wustl.edu 37 1 29379717 29379717 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 29379717 29379717 A - DEL EPB41 ENST00000343067 human ensembl 74_37 +1 known frame_shift_del c.1738 p.T582fs 0.796 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain - no_errors EPB41 HGNC ENSG00000159023 132 0 0 85 6 6.59341 SPOCD1 0 genome.wustl.edu 37 1 32256573 32256573 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 32256573 32256573 C - DEL SPOCD1 ENST00000360482 human ensembl 74_37 -1 known frame_shift_del c.3282 p.R1095fs 0.909 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,superfamily_TFIIS_cen_dom,smart_TFS2M - no_errors SPOCD1 HGNC ENSG00000134668 52 0 0 47 6 11.3208 PTP4A2 0 genome.wustl.edu 37 1 32384717 32384718 + RNA DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 32384717 32384718 AA - DEL PTP4A2 ENST00000532289 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors PTP4A2 HGNC ENSG00000184007 26 0 0 16 8 33.3333 MEGF6 0 genome.wustl.edu 37 1 3410404 3410404 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 3410404 3410404 C - DEL MEGF6 ENST00000356575 human ensembl 74_37 -1 known frame_shift_del c.4318 p.A1440fs 0.000 smart_EG-like_dom,smart_EGF_laminin pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 27 0 0 8 7 46.6667 ZMYM6 0 genome.wustl.edu 37 1 35484912 35484912 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 35484912 35484912 A - DEL ZMYM6 ENST00000317538 human ensembl 74_37 -1 novel frame_shift_del c.470 p.L157fs 0.001 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 178 0 0 79 44 35.7724 ZMYM4 0 genome.wustl.edu 37 1 35825030 35825031 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 35825030 35825031 - T INS ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_ins c.590_591 p.D200fs 1.000:1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 65 0 0 38 10 20.8333 KIAA0319L 0 genome.wustl.edu 37 1 35928292 35928292 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 35928292 35928292 G - DEL KIAA0319L ENST00000325722 human ensembl 74_37 -1 known frame_shift_del c.1224 p.I409fs 0.992 pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom pfam_PKD/REJ-like,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319L HGNC ENSG00000142687 126 0 0 73 14 16.092 ENSG00000232335 0 genome.wustl.edu 37 1 36208989 36208989 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 36208989 36208989 A - DEL ENSG00000232335 ENST00000373226 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435D7.3 Clone_based_vega_gene ENSG00000232335 145 0 0 59 22 27.1605 ENSG00000271554 0 genome.wustl.edu 37 1 36475027 36475028 + RNA DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 36475027 36475028 AA - DEL ENSG00000271554 ENST00000479395 human ensembl 74_37 -1 known rna NULL NULL 0.011:0.004 - - - no_errors RP4-665N4.8 Clone_based_vega_gene ENSG00000271554 103 0 0 35 22 38.5965 MFSD2A 0 genome.wustl.edu 37 1 40433608 40433610 + RNA DEL CCT CCT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CCT CCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 40433608 40433610 CCT - DEL MFSD2A ENST00000481612 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002:0.001 - - - no_errors MFSD2A HGNC ENSG00000168389 88 0 0 55 10 15.3846 ZMPSTE24 0 genome.wustl.edu 37 1 40756543 40756543 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 40756543 40756543 T - DEL ZMPSTE24 ENST00000372759 human ensembl 74_37 +1 known frame_shift_del c.1077 p.L362fs 1.000 pfam_Peptidase_M48 pfam_Peptidase_M48 - no_errors ZMPSTE24 HGNC ENSG00000084073 147 1 0.675676 78 32 29.0909 LRRC41 0 genome.wustl.edu 37 1 46726877 46726877 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 46726877 46726877 T - DEL LRRC41 ENST00000496156 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LRRC41 HGNC ENSG00000132128 63 0 0 26 20 43.4783 ENSG00000266993 0 genome.wustl.edu 37 1 52264099 52264099 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 82 0 0 46 13 22.0339 TMEM59 0 genome.wustl.edu 37 1 54502396 54502396 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 54502396 54502396 A - DEL TMEM59 ENST00000470395 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TMEM59 HGNC ENSG00000116209 14 0 0 11 6 35.2941 FAM151A 0 genome.wustl.edu 37 1 55081756 55081757 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 55081756 55081757 - G INS FAM151A ENST00000302250 human ensembl 74_37 -1 known frame_shift_ins c.352_351 p.T117fs 0.716:0.037 pfam_DUF2181 pfam_DUF2181 - no_errors FAM151A HGNC ENSG00000162391 77 0 0 65 15 18.75 NPHP4 0 genome.wustl.edu 37 1 5927142 5927142 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 5927142 5927142 G - DEL NPHP4 ENST00000378156 human ensembl 74_37 -1 known frame_shift_del c.3506 p.P1169fs 0.202 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 48 0 0 23 8 25.8065 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 115 0 0 44 34 43.5897 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 67099769 67099769 A - DEL SGIP1 ENST00000237247 human ensembl 74_37 +1 known frame_shift_del c.106 p.K38fs 0.997 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 30 0 0 18 9 33.3333 WDR78 0 genome.wustl.edu 37 1 67390426 67390426 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 67390426 67390426 T - DEL WDR78 ENST00000371026 human ensembl 74_37 -1 known frame_shift_del c.89 p.K30fs 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 268 1 0.371747 152 36 19.1489 ZRANB2 0 genome.wustl.edu 37 1 71532487 71532487 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 71532487 71532487 T - DEL ZRANB2 ENST00000370920 human ensembl 74_37 -1 known frame_shift_del c.901 p.R301fs 1.000 pirsf_UCP037956_Znf_RanB2 pfam_Znf_RanBP2,smart_Znf_RanBP2,pirsf_UCP037956_Znf_RanB2,pfscan_Znf_RanBP2 - no_errors ZRANB2 HGNC ENSG00000132485 196 0 0 103 25 19.5312 ASB17 0 genome.wustl.edu 37 1 76387916 76387916 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 76387916 76387916 T - DEL ASB17 ENST00000284142 human ensembl 74_37 -1 known frame_shift_del c.530 p.N177fs 0.996 superfamily_Ankyrin_rpt-contain_dom pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 66 0 0 36 20 35.7143 ZNF644 0 genome.wustl.edu 37 1 91406040 91406040 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 91406040 91406040 T - DEL ZNF644 ENST00000337393 human ensembl 74_37 -1 known frame_shift_del c.871 p.R291fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 102 0 0 36 33 47.8261 MTF2 0 genome.wustl.edu 37 1 93602676 93602677 + RNA DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 29 0 0 11 5 31.25 CCDC18 0 genome.wustl.edu 37 1 93649684 93649684 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 1 93649684 93649684 A - DEL CCDC18 ENST00000557479 human ensembl 74_37 +1 known frame_shift_del c.638 p.K215fs 0.544 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC18 HGNC ENSG00000122483 85 0 0 53 19 26.3889 ENTPD7 0 genome.wustl.edu 37 10 101458541 101458541 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 101458541 101458541 T - DEL ENTPD7 ENST00000370489 human ensembl 74_37 +1 known frame_shift_del c.1261 p.Y423fs 1.000 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 78 0 0 38 14 26.9231 KCNIP2 0 genome.wustl.edu 37 10 103586910 103586910 + RNA DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 103586910 103586910 C - DEL KCNIP2 ENST00000355657 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors KCNIP2 HGNC ENSG00000120049 20 0 0 6 4 40 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 83 0 0 51 12 19.0476 SMC3 0 genome.wustl.edu 37 10 112356187 112356188 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 112356187 112356188 - G INS SMC3 ENST00000361804 human ensembl 74_37 +1 known frame_shift_ins c.1995_1996 p.Y667fs 0.999:1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_SMC_hinge pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 311 0 0 191 56 22.6721 NHLRC2 0 genome.wustl.edu 37 10 115662308 115662308 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 115662308 115662308 A - DEL NHLRC2 ENST00000369301 human ensembl 74_37 +1 known frame_shift_del c.1450 p.R486fs 0.833 pfam_NHL_repeat,pfscan_NHL_repeat_subgr pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr - no_errors NHLRC2 HGNC ENSG00000196865 249 1 0.4 106 88 45.3608 PDZD8 0 genome.wustl.edu 37 10 119044331 119044331 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 119044331 119044331 T - DEL PDZD8 ENST00000334464 human ensembl 74_37 -1 known frame_shift_del c.1913 p.N638fs 0.000 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 185 0 0 86 22 20.3704 INPP5F 0 genome.wustl.edu 37 10 121587063 121587065 + In_Frame_Del DEL CTT CTT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 121587063 121587065 CTT - DEL INPP5F ENST00000361976 human ensembl 74_37 +1 known in_frame_del c.3170_3172 p.S1058in_frame_del 1.000:1.000:1.000 NULL pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 241 0 0 135 55 28.9474 CHST15 0 genome.wustl.edu 37 10 125805647 125805647 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 125805647 125805647 G - DEL CHST15 ENST00000346248 human ensembl 74_37 -1 known frame_shift_del c.82 p.H28fs 0.004 NULL pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors CHST15 HGNC ENSG00000182022 153 1 0.649351 76 25 24.7525 CDNF 0 genome.wustl.edu 37 10 14862076 14862077 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 14862076 14862077 - C INS CDNF ENST00000465530 human ensembl 74_37 -1 known frame_shift_ins c.467_466 p.E156fs 1.000:1.000 pfam_Armet_prot pfam_Armet_prot - no_errors CDNF HGNC ENSG00000185267 380 0 0 188 61 24.498 DCLRE1C 0 genome.wustl.edu 37 10 14950433 14950433 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 14950433 14950433 T - DEL DCLRE1C ENST00000378278 human ensembl 74_37 -1 known frame_shift_del c.2053 p.R685fs 0.022 NULL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 154 0 0 68 32 32 DNAJC1 0 genome.wustl.edu 37 10 22048437 22048437 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 22048437 22048437 C - DEL DNAJC1 ENST00000376980 human ensembl 74_37 -1 known frame_shift_del c.1258 p.V420fs 0.003 NULL pfam_DnaJ_domain,pfam_SANT/Myb,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC1 HGNC ENSG00000136770 143 0 0 58 19 24.6753 GAD2 0 genome.wustl.edu 37 10 26581462 26581462 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 26581462 26581462 A - DEL GAD2 ENST00000259271 human ensembl 74_37 +1 known frame_shift_del c.1455 p.N487fs 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 255 0 0 152 42 21.6495 SVIL 0 genome.wustl.edu 37 10 29760116 29760116 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 66 0 0 45 11 19.6429 KIAA1462 0 genome.wustl.edu 37 10 30317905 30317905 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 30317905 30317905 G - DEL KIAA1462 ENST00000375377 human ensembl 74_37 -1 known frame_shift_del c.1172 p.P391fs 0.000 NULL NULL - no_errors KIAA1462 HGNC ENSG00000165757 225 0 0 171 10 5.52486 CREM 0 genome.wustl.edu 37 10 35456558 35456559 + RNA INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 35456558 35456559 - T INS CREM ENST00000497686 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CREM HGNC ENSG00000095794 68 0 0 26 16 38.0952 ENSG00000234864 0 genome.wustl.edu 37 10 43199721 43199722 + RNA INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 43199721 43199722 - T INS ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 42 0 0 26 4 13.3333 GPRIN2 0 genome.wustl.edu 37 10 46999604 46999604 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 46999604 46999604 A - DEL GPRIN2 ENST00000374314 human ensembl 74_37 +1 known frame_shift_del c.724 p.R242fs 0.049 NULL NULL - no_errors GPRIN2 HGNC ENSG00000204175 133 0 0 97 12 11.0092 GDF2 0 genome.wustl.edu 37 10 48414131 48414131 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 48414131 48414131 G - DEL GDF2 ENST00000249598 human ensembl 74_37 -1 known frame_shift_del c.737 p.P246fs 0.839 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_asu - no_errors GDF2 HGNC ENSG00000128802 143 0 0 74 32 30.1887 DNA2 0 genome.wustl.edu 37 10 70192211 70192211 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 70192211 70192211 T - DEL DNA2 ENST00000399180 human ensembl 74_37 -1 known frame_shift_del c.1961 p.N654fs 0.971 NULL pfam_DNA_replication_fac_Dna2_N,superfamily_P-loop_NTPase - no_errors DNA2 HGNC ENSG00000138346 26 0 0 15 7 31.8182 TET1 0 genome.wustl.edu 37 10 70332153 70332153 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 70332153 70332153 A - DEL TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_del c.58 p.K22fs 0.855 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 87 0 0 29 13 30.9524 VPS26A 0 genome.wustl.edu 37 10 70930940 70930940 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 70930940 70930940 A - DEL VPS26A ENST00000263559 human ensembl 74_37 +1 known frame_shift_del c.899 p.K301fs 1.000 NULL pfam_VPS26 - no_errors VPS26A HGNC ENSG00000122958 162 0 0 69 27 28.125 ZSWIM8 0 genome.wustl.edu 37 10 75560464 75560464 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 75560464 75560464 C - DEL ZSWIM8 ENST00000398706 human ensembl 74_37 +1 known frame_shift_del c.5093 p.Y1701fs 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM8 HGNC ENSG00000214655 184 0 0 137 16 10.4575 LRIT1 0 genome.wustl.edu 37 10 86001144 86001144 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 86001144 86001144 G - DEL LRIT1 ENST00000372105 human ensembl 74_37 -1 known frame_shift_del c.52 p.Q18fs 0.600 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRIT1 HGNC ENSG00000148602 48 0 0 40 7 14.8936 STAMBPL1 0 genome.wustl.edu 37 10 90682146 90682146 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 90682146 90682146 A - DEL STAMBPL1 ENST00000371927 human ensembl 74_37 +1 known frame_shift_del c.1207 p.K405fs 1.000 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors STAMBPL1 HGNC ENSG00000138134 132 0 0 83 35 29.661 BTAF1 0 genome.wustl.edu 37 10 93748921 93748921 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 93748921 93748921 T - DEL BTAF1 ENST00000265990 human ensembl 74_37 +1 known frame_shift_del c.2438 p.F814fs 1.000 pfam_DUF3535,superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 75 0 0 33 9 21.4286 ENSG00000228553 0 genome.wustl.edu 37 10 95986973 95986974 + RNA INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 95986973 95986974 - T INS ENSG00000228553 ENST00000447227 human ensembl 74_37 -1 known rna NULL NULL 0.010:0.012 - - - no_errors RP11-391J2.3 Clone_based_vega_gene ENSG00000228553 35 0 0 11 6 35.2941 NOC3L 0 genome.wustl.edu 37 10 96117098 96117098 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 10 96117098 96117098 A - DEL NOC3L ENST00000463649 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NOC3L HGNC ENSG00000173145 49 0 0 48 17 26.1538 TRPC6 0 genome.wustl.edu 37 11 101362287 101362287 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 101362287 101362287 T - DEL TRPC6 ENST00000344327 human ensembl 74_37 -1 known frame_shift_del c.1128 p.K376fs 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 359 0 0 269 15 5.28169 MUC6 0 genome.wustl.edu 37 11 1015927 1015927 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 1015927 1015927 C - DEL MUC6 ENST00000421673 human ensembl 74_37 -1 known frame_shift_del c.6874 p.V2292fs 0.001 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors MUC6 HGNC ENSG00000184956 182 0 0 115 45 28.125 CUL5 0 genome.wustl.edu 37 11 107965658 107965658 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 107965658 107965658 A - DEL CUL5 ENST00000393094 human ensembl 74_37 +1 known frame_shift_del c.1687 p.N565fs 1.000 pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL5 HGNC ENSG00000166266 100 0 0 63 21 25 DDX10 0 genome.wustl.edu 37 11 108544239 108544239 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 108544239 108544239 A - DEL DDX10 ENST00000322536 human ensembl 74_37 +1 known frame_shift_del c.232 p.T80fs 0.988 pfscan_RNA_helicase_DEAD_Q_motif 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 DDX10 HGNC ENSG00000178105 101 0 0 46 16 25.8065 DLAT 0 genome.wustl.edu 37 11 111896977 111896977 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 111896977 111896977 A - DEL DLAT ENST00000280346 human ensembl 74_37 +1 known frame_shift_del c.335 p.E115fs 1.000 pfam_Biotin_lipoyl,superfamily_Single_hybrid_motif,pfscan_Biotin_lipoyl pfam_2-oxoacid_DH_actylTfrase,pfam_Biotin_lipoyl,pfam_E3-bd,superfamily_Single_hybrid_motif,superfamily_E3-bd,pfscan_Biotin_lipoyl,tigrfam_LAT1 - no_errors DLAT HGNC ENSG00000150768 49 0 0 16 4 20 CADM1 0 genome.wustl.edu 37 11 115047097 115047097 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 115047097 115047097 A - DEL CADM1 ENST00000543375 human ensembl 74_37 -1 putative rna NULL NULL 0.997 - - - no_errors CADM1 HGNC ENSG00000182985 153 0 0 72 40 35.7143 AMICA1 0 genome.wustl.edu 37 11 118065068 118065068 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 118065068 118065068 C - DEL AMICA1 ENST00000356289 human ensembl 74_37 -1 known frame_shift_del c.1157 p.G386fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 145 0 0 86 23 21.1009 PDZD3 0 genome.wustl.edu 37 11 119058341 119058341 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 119058341 119058341 G - DEL PDZD3 ENST00000392817 human ensembl 74_37 +1 known frame_shift_del c.787 p.A264fs 0.982 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD3 HGNC ENSG00000172367 12 0 0 7 2 22.2222 MFRP 0 genome.wustl.edu 37 11 119216273 119216273 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 119216273 119216273 G - DEL MFRP ENST00000449574 human ensembl 74_37 -1 known frame_shift_del c.498 p.N167fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Frizzled_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_Frizzled_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Frizzled_dom,pfscan_CUB_dom,pfscan_Frizzled_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors MFRP HGNC ENSG00000235718 122 0 0 66 16 19.5122 SORL1 0 genome.wustl.edu 37 11 121475905 121475905 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 121475905 121475905 A - DEL SORL1 ENST00000260197 human ensembl 74_37 +1 known frame_shift_del c.4735 p.M1581fs 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors SORL1 HGNC ENSG00000137642 351 1 0.284091 200 60 23.0769 OR8D4 0 genome.wustl.edu 37 11 123777442 123777442 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 123777442 123777442 T - DEL OR8D4 ENST00000321355 human ensembl 74_37 +1 known frame_shift_del c.304 p.F104fs 0.939 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 OR8D4 HGNC ENSG00000181518 606 0 0 344 104 23.2143 OR8B2 0 genome.wustl.edu 37 11 124253238 124253239 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 124253238 124253239 - T INS OR8B2 ENST00000375013 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 0.673:0.574 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 196 0 0 122 8 6.15385 OR8B3 0 genome.wustl.edu 37 11 124267246 124267247 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 124267246 124267247 - T INS OR8B3 ENST00000354597 human ensembl 74_37 -1 known frame_shift_ins c.2_1 p.M1fs 0.023:0.010 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B3 HGNC ENSG00000196661 98 0 0 67 5 6.94444 SRPR 0 genome.wustl.edu 37 11 126137087 126137087 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 126137087 126137087 T - DEL SRPR ENST00000332118 human ensembl 74_37 -1 known frame_shift_del c.509 p.K170fs 0.991 pfam_Sig_recog_particle_rcpt_asu_N pfam_Sig_recog_particle_rcpt_asu_N,pfam_SRP54_GTPase_dom,pfam_ArgK,pfam_CobQ/CobB/MinD/ParA_Nub-bd_dom,pfam_Signal_recog_particl_SRP54_hlx,superfamily_Longin-like_dom,superfamily_P-loop_NTPase,superfamily_Signal_recog_particl_SRP54_hlx,smart_Signal_recog_particl_SRP54_hlx,smart_AAA+_ATPase,smart_SRP54_GTPase_dom - no_errors SRPR HGNC ENSG00000182934 612 2 0.325733 419 111 20.9434 IGSF9B 0 genome.wustl.edu 37 11 133790374 133790374 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 133790374 133790374 G - DEL IGSF9B ENST00000321016 human ensembl 74_37 -1 known frame_shift_del c.3246 p.T1083fs 0.022 NULL 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 90 0 0 49 8 14.0351 PIK3C2A 0 genome.wustl.edu 37 11 17112906 17112907 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 17112906 17112907 - T INS PIK3C2A ENST00000265970 human ensembl 74_37 -1 known frame_shift_ins c.4853_4852 p.T1618fs 1.000:1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_dom,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2A HGNC ENSG00000011405 155 0 0 115 41 26.2821 MRGPRX1 0 genome.wustl.edu 37 11 18955770 18955771 + Frame_Shift_Del DEL AT AT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 18955770 18955771 AT - DEL MRGPRX1 ENST00000302797 human ensembl 74_37 -1 known frame_shift_del c.562_561 p.V189fs 0.804:0.323 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX1 HGNC ENSG00000170255 183 0 0 110 27 19.708 CCDC73 0 genome.wustl.edu 37 11 32637520 32637520 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 16 0 0 12 10 45.4545 B4GALNT4 0 genome.wustl.edu 37 11 380921 380921 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 380921 380921 G - DEL B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known frame_shift_del c.2966 p.G991fs 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 53 0 0 24 9 27.2727 HNRNPKP3 0 genome.wustl.edu 37 11 43283606 43283608 + RNA DEL AAA AAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 43283606 43283608 AAA - DEL HNRNPKP3 ENST00000511537 human ensembl 74_37 -1 known rna NULL NULL 0.986:0.995:0.998 - - - no_errors HNRNPKP3 HGNC ENSG00000251557 21 0 0 8 4 33.3333 DGKZ 0 genome.wustl.edu 37 11 46393274 46393275 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 46393274 46393275 - C INS DGKZ ENST00000454345 human ensembl 74_37 +1 known frame_shift_ins c.1344_1345 p.K448fs 1.000:1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,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 DGKZ HGNC ENSG00000149091 47 0 0 29 3 9.375 OR51E2 0 genome.wustl.edu 37 11 4703475 4703475 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 4703475 4703475 A - DEL OR51E2 ENST00000396950 human ensembl 74_37 -1 known frame_shift_del c.467 p.F156fs 0.027 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51E2 HGNC ENSG00000167332 139 0 0 86 10 10.4167 SPI1 0 genome.wustl.edu 37 11 47399860 47399861 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 47399860 47399861 - G INS SPI1 ENST00000227163 human ensembl 74_37 -1 known frame_shift_ins c.45_44 p.Q16fs 1.000:1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors SPI1 HGNC ENSG00000066336 39 0 0 26 5 16.129 NUP160 0 genome.wustl.edu 37 11 47826036 47826036 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 47826036 47826036 A - DEL NUP160 ENST00000527750 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors NUP160 HGNC ENSG00000030066 78 0 0 32 20 38.4615 OR4A16 0 genome.wustl.edu 37 11 55110761 55110761 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 55110761 55110761 T - DEL OR4A16 ENST00000314721 human ensembl 74_37 +1 known frame_shift_del c.85 p.L30fs 0.013 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 177 0 0 77 30 28.0374 UBQLN3 0 genome.wustl.edu 37 11 5529729 5529729 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 5529729 5529729 G - DEL UBQLN3 ENST00000311659 human ensembl 74_37 -1 known frame_shift_del c.1060 p.Q354fs 0.004 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 249 0 0 125 34 21.3836 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 86 0 0 42 9 17.6471 TNKS1BP1 0 genome.wustl.edu 37 11 57077906 57077906 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 57077906 57077906 C - DEL TNKS1BP1 ENST00000358252 human ensembl 74_37 -1 known frame_shift_del c.2279 p.G760fs 0.462 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 146 0 0 75 27 26.4706 PRG3 0 genome.wustl.edu 37 11 57147266 57147266 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 57147266 57147266 G - DEL PRG3 ENST00000287143 human ensembl 74_37 -1 known frame_shift_del c.76 p.H26fs 0.000 prints_Eosinophil_major_basic pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_Eosinophil_major_basic - no_errors PRG3 HGNC ENSG00000156575 154 0 0 97 19 16.3793 RTN4RL2 0 genome.wustl.edu 37 11 57244233 57244233 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 57244233 57244233 G - DEL RTN4RL2 ENST00000335099 human ensembl 74_37 +1 known frame_shift_del c.1112 p.G373fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL2 HGNC ENSG00000186907 33 0 0 11 5 31.25 ZP1 0 genome.wustl.edu 37 11 60637322 60637322 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 60637322 60637322 C - DEL ZP1 ENST00000278853 human ensembl 74_37 +1 known frame_shift_del c.631 p.H212fs 0.000 NULL pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 98 0 0 63 18 22.2222 TMEM132A 0 genome.wustl.edu 37 11 60699534 60699534 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 60699534 60699534 G - DEL TMEM132A ENST00000005286 human ensembl 74_37 +1 known frame_shift_del c.1294 p.A434fs 0.988 NULL NULL - no_errors TMEM132A HGNC ENSG00000006118 152 0 0 87 22 20.1835 PHRF1 0 genome.wustl.edu 37 11 607110 607112 + In_Frame_Del DEL GAA GAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 607110 607112 GAA - DEL PHRF1 ENST00000264555 human ensembl 74_37 +1 known in_frame_del c.1654_1656 p.E553in_frame_del 0.002:0.001:0.000 NULL pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors PHRF1 HGNC ENSG00000070047 65 0 0 49 10 16.9492 MYRF 0 genome.wustl.edu 37 11 61539013 61539013 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 61539013 61539013 C - DEL MYRF ENST00000278836 human ensembl 74_37 +1 known frame_shift_del c.782 p.S264fs 1.000 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 304 0 0 200 63 23.9544 SLC22A6 0 genome.wustl.edu 37 11 62749334 62749334 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 62749334 62749334 A - DEL SLC22A6 ENST00000377871 human ensembl 74_37 -1 known frame_shift_del c.777 p.F259fs 0.986 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Orgcat_transp - no_errors SLC22A6 HGNC ENSG00000197901 36 0 0 24 4 14.2857 CCDC88B 0 genome.wustl.edu 37 11 64121543 64121543 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64121543 64121543 G - DEL CCDC88B ENST00000356786 human ensembl 74_37 +1 known frame_shift_del c.4000 p.L1336fs 0.867 NULL pfam_Hook-related_fam - no_errors CCDC88B HGNC ENSG00000168071 24 0 0 12 2 14.2857 MAP4K2 0 genome.wustl.edu 37 11 64569202 64569203 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64569202 64569203 - C INS MAP4K2 ENST00000294066 human ensembl 74_37 -1 known frame_shift_ins c.394_393 p.K131fs 1.000:0.978 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors MAP4K2 HGNC ENSG00000168067 225 0 0 137 35 20.3488 CDCA5 0 genome.wustl.edu 37 11 64851183 64851183 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64851183 64851183 G - DEL CDCA5 ENST00000275517 human ensembl 74_37 -1 known frame_shift_del c.59 p.P20fs 0.002 pfam_Sororin pfam_Sororin - no_errors CDCA5 HGNC ENSG00000146670 77 0 0 41 12 22.6415 VPS51 0 genome.wustl.edu 37 11 64876853 64876853 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 64876853 64876853 G - DEL VPS51 ENST00000279281 human ensembl 74_37 +1 known frame_shift_del c.1545 p.G517fs 1.000 NULL pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 106 1 0.934579 54 16 22.8571 MALAT1 0 genome.wustl.edu 37 11 65267659 65267659 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 65267659 65267659 A - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 24 0 0 13 5 27.7778 PCNXL3 0 genome.wustl.edu 37 11 65386239 65386239 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 65386239 65386239 G - DEL PCNXL3 ENST00000355703 human ensembl 74_37 +1 known frame_shift_del c.1406 p.A470fs 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 43 0 0 27 4 12.9032 YIF1A 0 genome.wustl.edu 37 11 66052323 66052323 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 66052323 66052323 G - DEL YIF1A ENST00000471387 human ensembl 74_37 -1 putative frame_shift_del c.327 p.I110fs 0.002 NULL pfam_Hrf1 - no_errors YIF1A HGNC ENSG00000174851 94 0 0 57 22 27.8481 YIF1A 0 genome.wustl.edu 37 11 66055105 66055105 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 66055105 66055105 G - DEL YIF1A ENST00000376901 human ensembl 74_37 -1 known frame_shift_del c.391 p.R131fs 0.484 pfam_Hrf1,pfam_Yip1 pfam_Hrf1,pfam_Yip1 - no_errors YIF1A HGNC ENSG00000174851 74 0 0 37 11 22.9167 DCHS1 0 genome.wustl.edu 37 11 6662142 6662142 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 6662142 6662142 G - DEL DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_del c.703 p.R235fs 0.606 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 354 0 0 216 38 14.9606 ENSG00000225805 0 genome.wustl.edu 37 11 71589510 71589511 + RNA INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 71589510 71589511 - T INS ENSG00000225805 ENST00000530210 human ensembl 74_37 +1 known rna NULL NULL 0.024:0.018 - - - no_errors CTD-2313N18.7 Clone_based_vega_gene ENSG00000225805 258 0 0 98 41 29.4964 MYO7A 0 genome.wustl.edu 37 11 76867058 76867058 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 76867058 76867058 C - DEL MYO7A ENST00000409709 human ensembl 74_37 +1 known frame_shift_del c.391 p.H133fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,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_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 62 0 0 27 6 18.1818 AAMDC 0 genome.wustl.edu 37 11 77553633 77553633 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 77553633 77553633 G - DEL AAMDC ENST00000393427 human ensembl 74_37 +1 known frame_shift_del c.91 p.G32fs 1.000 pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 pfam_NADH_Ub_cplx-1_asu_assmbl-fac3,superfamily_NADH_Ub_cplx-1_asu_assmbl-fac3 - no_errors AAMDC HGNC ENSG00000087884 105 0 0 77 18 18.9474 ENSG00000254420 0 genome.wustl.edu 37 11 78154811 78154812 + RNA DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 78154811 78154812 AA - DEL ENSG00000254420 ENST00000534168 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors RP11-452H21.1 Clone_based_vega_gene ENSG00000254420 57 0 0 26 6 18.75 TENM4 0 genome.wustl.edu 37 11 78413021 78413022 + Frame_Shift_Ins INS - - CA TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 78413021 78413022 - CA INS TENM4 ENST00000278550 human ensembl 74_37 -1 known frame_shift_ins c.4637_4636 p.A1546fs 1.000:1.000 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 104 0 0 69 14 16.8675 ME3 0 genome.wustl.edu 37 11 86157515 86157515 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 86157515 86157515 A - DEL ME3 ENST00000359636 human ensembl 74_37 -1 known frame_shift_del c.1395 p.F465fs 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 73 0 0 47 23 32.8571 MIR548L 0 genome.wustl.edu 37 11 94199691 94199691 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 11 94199691 94199691 T - DEL MIR548L ENST00000408303 human ensembl 74_37 -1 known rna NULL NULL 0.046 - - - no_errors MIR548L HGNC ENSG00000221230 115 0 0 68 34 33.3333 KLRAP1 0 genome.wustl.edu 37 12 10748370 10748370 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 10748370 10748370 T - DEL KLRAP1 ENST00000535939 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KLRAP1 HGNC ENSG00000256667 87 0 0 47 23 32.8571 ACACB 0 genome.wustl.edu 37 12 109604775 109604775 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 109604775 109604775 G - DEL ACACB ENST00000338432 human ensembl 74_37 +1 known frame_shift_del c.763 p.D257fs 1.000 superfamily_PreATP-grasp_dom pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 131 0 0 91 22 19.469 ALDH2 0 genome.wustl.edu 37 12 112229927 112229927 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 112229927 112229927 G - DEL ALDH2 ENST00000261733 human ensembl 74_37 +1 known frame_shift_del c.858 p.K289fs 0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 166 0 0 96 17 15.0442 HECTD4 0 genome.wustl.edu 37 12 112600859 112600860 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 112600859 112600860 - G INS HECTD4 ENST00000377560 human ensembl 74_37 -1 known frame_shift_ins c.12591_12590 p.D4198fs 0.555:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 245 0 0 142 31 17.9191 FBXO21 0 genome.wustl.edu 37 12 117615412 117615412 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 117615412 117615412 T - DEL FBXO21 ENST00000330622 human ensembl 74_37 -1 known frame_shift_del c.505 p.I169fs 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 137 0 0 99 7 6.60377 CCDC60 0 genome.wustl.edu 37 12 119942961 119942961 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 119942961 119942961 G - DEL CCDC60 ENST00000327554 human ensembl 74_37 +1 known frame_shift_del c.736 p.S248fs 0.730 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 387 0 0 241 64 20.9836 KDM2B 0 genome.wustl.edu 37 12 122018773 122018773 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 122018773 122018773 G - DEL KDM2B ENST00000377071 human ensembl 74_37 -1 known frame_shift_del c.44 p.P15fs 0.013 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 405 0 0 240 52 17.8082 CLIP1 0 genome.wustl.edu 37 12 122812630 122812631 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 122812630 122812631 - T INS CLIP1 ENST00000540338 human ensembl 74_37 -1 known frame_shift_ins c.3113_3112 p.T1038fs 0.000:0.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_Znf_CCHC,superfamily_Prefoldin,pfscan_CAP-Gly_domain - no_errors CLIP1 HGNC ENSG00000130779 307 0 0 156 78 33.3333 RSRC2 0 genome.wustl.edu 37 12 123006781 123006781 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 123006781 123006781 T - DEL RSRC2 ENST00000331738 human ensembl 74_37 -1 known frame_shift_del c.72 p.E25fs 1.000 NULL NULL - no_errors RSRC2 HGNC ENSG00000111011 96 0 0 88 10 10.2041 VPS37B 0 genome.wustl.edu 37 12 123351892 123351892 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 123351892 123351892 G - DEL VPS37B ENST00000267202 human ensembl 74_37 -1 known frame_shift_del c.629 p.P210fs 0.609 NULL pfam_Mod_r - no_errors VPS37B HGNC ENSG00000139722 38 0 0 18 9 33.3333 RPL22P19 0 genome.wustl.edu 37 12 125420367 125420367 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 125420367 125420367 T - DEL RPL22P19 ENST00000480427 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RPL22P19 HGNC ENSG00000241129 15 0 0 6 5 45.4545 EP400 0 genome.wustl.edu 37 12 132491394 132491394 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 132491394 132491394 T - DEL EP400 ENST00000333577 human ensembl 74_37 +1 known frame_shift_del c.3384 p.F1130fs 0.686 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd 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 159 0 0 85 33 27.9661 POLE 0 genome.wustl.edu 37 12 133219487 133219487 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 133219487 133219487 G - DEL POLE ENST00000320574 human ensembl 74_37 -1 known frame_shift_del c.4647 p.K1550fs 0.119 pfam_DNA_pol_e_suA_C pfam_DNA_pol_e_suA_C,pfam_DNA-dir_DNA_pol_B_exonuc,pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B - no_errors POLE HGNC ENSG00000177084 183 0 0 116 25 17.7305 SOX5 0 genome.wustl.edu 37 12 23998928 23998928 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 23998928 23998928 T - DEL SOX5 ENST00000451604 human ensembl 74_37 -1 known frame_shift_del c.470 p.N157fs 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 205 0 0 121 8 6.20155 ITPR2 0 genome.wustl.edu 37 12 26775326 26775327 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 26775326 26775327 - T INS ITPR2 ENST00000381340 human ensembl 74_37 -1 known frame_shift_ins c.3135_3134 p.N1045fs 0.805:0.822 superfamily_ARM-type_fold 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 ITPR2 HGNC ENSG00000123104 53 0 0 27 9 25 ASUN 0 genome.wustl.edu 37 12 27069026 27069026 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 27069026 27069026 A - DEL ASUN ENST00000261191 human ensembl 74_37 -1 known frame_shift_del c.1157 p.L386fs 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 77 0 0 47 14 22.9508 CACNA1C-AS1 0 genome.wustl.edu 37 12 2786184 2786184 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 2786184 2786184 A - DEL CACNA1C-AS1 ENST00000501371 human ensembl 74_37 -1 known rna NULL NULL 0.778 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 11 0 0 6 5 45.4545 KIF21A 0 genome.wustl.edu 37 12 39734129 39734129 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 39734129 39734129 T - DEL KIF21A ENST00000395670 human ensembl 74_37 -1 known frame_shift_del c.2148 p.V717fs 1.000 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 32 0 0 17 9 34.6154 LRRK2 0 genome.wustl.edu 37 12 40713870 40713870 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 40713870 40713870 A - DEL LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_del c.4908 p.R1639fs 0.408 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 134 0 0 91 22 19.469 KDM5A 0 genome.wustl.edu 37 12 419071 419071 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 419071 419071 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.3276 p.V1093fs 0.949 NULL pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_Znf_PHD-finger,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd - no_errors KDM5A HGNC ENSG00000073614 178 0 0 75 34 31.1927 PCED1B 0 genome.wustl.edu 37 12 47628998 47628998 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 47628998 47628998 G - DEL PCED1B ENST00000432328 human ensembl 74_37 +1 known frame_shift_del c.152 p.E53fs 1.000 NULL NULL - no_errors PCED1B HGNC ENSG00000179715 96 0 0 44 19 30.1587 NDUFA9 0 genome.wustl.edu 37 12 4794302 4794303 + Frame_Shift_Del DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 4794302 4794303 AA - DEL NDUFA9 ENST00000540688 human ensembl 74_37 +1 putative frame_shift_del c.51_52 p.N21fs 0.000:0.000 NULL NULL - no_errors NDUFA9 HGNC ENSG00000139180 11 0 0 3 8 72.7273 RPAP3 0 genome.wustl.edu 37 12 48084302 48084302 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 48084302 48084302 T - DEL RPAP3 ENST00000005386 human ensembl 74_37 -1 known frame_shift_del c.666 p.D223fs 1.000 pfam_TPR_1,pfam_TPR_2,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 RPAP3 HGNC ENSG00000005175 338 0 0 186 56 23.1405 KMT2D 0 genome.wustl.edu 37 12 49440135 49440136 + Frame_Shift_Del DEL GT GT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 49440135 49440136 GT - DEL KMT2D ENST00000301067 human ensembl 74_37 -1 known frame_shift_del c.4491_4490 p.H1497fs 1.000:1.000 superfamily_Znf_FYVE_PHD 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 159 0 0 98 38 27.9412 KRT2 0 genome.wustl.edu 37 12 53044122 53044124 + Splice_Site DEL CTT CTT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 53044122 53044124 CTT - DEL KRT2 ENST00000309680 human ensembl 74_37 -1 known splice_site_del c.800+3_800+1 e3-1 1.000:1.000:1.000 - - - no_errors KRT2 HGNC ENSG00000172867 413 0 0 238 90 27.439 SPRYD3 0 genome.wustl.edu 37 12 53460135 53460136 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 53460135 53460136 - C INS SPRYD3 ENST00000301463 human ensembl 74_37 -1 known frame_shift_ins c.1157_1156 p.E386fs 1.000:1.000 superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY - no_errors SPRYD3 HGNC ENSG00000167778 176 0 0 97 20 17.094 NEUROD4 0 genome.wustl.edu 37 12 55421128 55421128 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 55421128 55421128 C - DEL NEUROD4 ENST00000242994 human ensembl 74_37 +1 known frame_shift_del c.905 p.R304fs 0.400 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 NEUROD4 HGNC ENSG00000123307 1252 0 0 695 206 22.8635 DGKA 0 genome.wustl.edu 37 12 56347514 56347514 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56347514 56347514 C - DEL DGKA ENST00000331886 human ensembl 74_37 +1 known frame_shift_del c.2170 p.R726fs 0.749 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 200 0 0 120 28 18.9189 SLC39A5 0 genome.wustl.edu 37 12 56630390 56630392 + In_Frame_Del DEL AGA AGA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56630390 56630392 AGA - DEL SLC39A5 ENST00000266980 human ensembl 74_37 +1 known in_frame_del c.1067_1069 p.K357in_frame_del 0.803:0.161:0.076 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 222 0 0 105 20 16 ANKRD52 0 genome.wustl.edu 37 12 56638574 56638574 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56638574 56638574 G - DEL ANKRD52 ENST00000267116 human ensembl 74_37 -1 known frame_shift_del c.2584 p.L862fs 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD52 HGNC ENSG00000139645 131 0 0 117 21 15.2174 APOF 0 genome.wustl.edu 37 12 56755285 56755285 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 56755285 56755285 C - DEL APOF ENST00000398189 human ensembl 74_37 -1 known frame_shift_del c.705 p.P236fs 0.052 NULL NULL - no_errors APOF HGNC ENSG00000175336 123 0 0 60 20 25 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57422573 57422573 T - DEL MYO1A ENST00000300119 human ensembl 74_37 -1 known frame_shift_del c.3098 p.K1033fs 1.000 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 230 2 0.862069 140 29 17.1598 MBD6 0 genome.wustl.edu 37 12 57919175 57919175 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 57919175 57919175 C - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.424 p.S144fs 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 141 0 0 76 26 25.4902 ARHGEF25 0 genome.wustl.edu 37 12 58004055 58004056 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 58004055 58004056 - G INS ARHGEF25 ENST00000333972 human ensembl 74_37 +1 known frame_shift_ins c.56_57 p.M22fs 1.000:1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF25 HGNC ENSG00000240771 26 0 0 14 5 26.3158 PPM1H 0 genome.wustl.edu 37 12 63195674 63195674 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 63195674 63195674 G - DEL PPM1H ENST00000228705 human ensembl 74_37 -1 known frame_shift_del c.678 p.T227fs 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1H HGNC ENSG00000111110 136 0 0 78 8 9.30233 GRIP1 0 genome.wustl.edu 37 12 66849209 66849209 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 66849209 66849209 T - DEL GRIP1 ENST00000359742 human ensembl 74_37 -1 known frame_shift_del c.1334 p.K445fs 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 279 0 0 163 16 8.93855 NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 40 0 0 8 12 60 ZFC3H1 0 genome.wustl.edu 37 12 72038781 72038781 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 72038781 72038781 T - DEL ZFC3H1 ENST00000378743 human ensembl 74_37 -1 known frame_shift_del c.1155 p.K385fs 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 73 0 0 40 16 28.5714 C1RL 0 genome.wustl.edu 37 12 7249400 7249400 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 7249400 7249400 G - DEL C1RL ENST00000266542 human ensembl 74_37 -1 known frame_shift_del c.1051 p.L351fs 0.908 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 151 0 0 68 31 31.3131 GALNT4 0 genome.wustl.edu 37 12 89917838 89917840 + In_Frame_Del DEL AGG AGG - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 89917838 89917840 AGG - DEL GALNT4 ENST00000529983 human ensembl 74_37 -1 known in_frame_del c.489_487 p.P163in_frame_del 0.112:1.000:0.999 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT4 HGNC ENSG00000257594 140 0 0 64 14 17.9487 CCDC38 0 genome.wustl.edu 37 12 96292432 96292432 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 12 96292432 96292432 T - DEL CCDC38 ENST00000344280 human ensembl 74_37 -1 known frame_shift_del c.447 p.A150fs 0.125 NULL NULL - no_errors CCDC38 HGNC ENSG00000165972 140 0 0 81 20 19.802 FAM155A 0 genome.wustl.edu 37 13 108518350 108518350 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 108518350 108518350 C - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known frame_shift_del c.595 p.A199fs 0.042 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 289 0 0 170 26 13.2653 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 24 0 0 10 4 28.5714 SACS 0 genome.wustl.edu 37 13 23912864 23912864 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 23912864 23912864 T - DEL SACS ENST00000382292 human ensembl 74_37 -1 known frame_shift_del c.5151 p.K1717fs 0.000 NULL pfam_HEPN,pfam_Ubiquitin_dom,superfamily_HATPase_ATP-bd,superfamily_DnaJ_domain,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_domain,pfscan_Ubiquitin_supergroup - no_errors SACS HGNC ENSG00000151835 113 0 0 44 38 46.3415 BRCA2 0 genome.wustl.edu 37 13 32972893 32972893 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 32972893 32972893 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.10243 p.K3416fs 0.000 pirsf_BRCA2 pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold,pirsf_BRCA2,pfscan_BRCA2_repeat - no_errors BRCA2 HGNC ENSG00000139618 116 0 0 70 21 23.0769 PDS5B 0 genome.wustl.edu 37 13 33344580 33344580 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 33344580 33344580 A - DEL PDS5B ENST00000315596 human ensembl 74_37 +1 known frame_shift_del c.3946 p.K1318fs 1.000 NULL superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 100 0 0 38 8 17.3913 NBEA 0 genome.wustl.edu 37 13 36125104 36125104 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 36125104 36125104 A - DEL NBEA ENST00000310336 human ensembl 74_37 +1 known frame_shift_del c.6741 p.V2250fs 0.214 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 60 0 0 43 14 24.5614 SPG20 0 genome.wustl.edu 37 13 36886628 36886628 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 36886628 36886628 A - DEL SPG20 ENST00000491805 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors SPG20 HGNC ENSG00000133104 171 0 0 83 22 20.9524 COG6 0 genome.wustl.edu 37 13 40254101 40254101 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 40254101 40254101 T - DEL COG6 ENST00000465775 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors COG6 HGNC ENSG00000133103 92 0 0 43 10 18.8679 AKAP11 0 genome.wustl.edu 37 13 42873774 42873774 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 42873774 42873774 T - DEL AKAP11 ENST00000025301 human ensembl 74_37 +1 known frame_shift_del c.892 p.S300fs 0.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 169 0 0 87 36 29.2683 ZC3H13 0 genome.wustl.edu 37 13 46543660 46543661 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 46543660 46543661 - T INS ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_ins c.3019_3018 p.R1006fs 1.000:0.998 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 212 0 0 126 12 8.69565 ZC3H13 0 genome.wustl.edu 37 13 46543691 46543691 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 46543691 46543691 T - DEL ZC3H13 ENST00000242848 human ensembl 74_37 -1 known frame_shift_del c.2988 p.G997fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 291 1 0.342466 146 40 21.5054 VPS36 0 genome.wustl.edu 37 13 53000038 53000038 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 53000038 53000038 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VPS36 HGNC ENSG00000136100 122 0 0 51 21 29.1667 DIAPH3 0 genome.wustl.edu 37 13 60385030 60385030 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 60385030 60385030 T - DEL DIAPH3 ENST00000400324 human ensembl 74_37 -1 known frame_shift_del c.3055 p.R1019fs 1.000 smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors DIAPH3 HGNC ENSG00000139734 50 0 0 36 10 21.7391 EDNRB 0 genome.wustl.edu 37 13 78475267 78475267 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 78475267 78475267 A - DEL EDNRB ENST00000334286 human ensembl 74_37 -1 known frame_shift_del c.877 p.Y293fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt,prints_GPCR_Rhodpsn 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 155 0 0 73 28 27.7228 DCT 0 genome.wustl.edu 37 13 95121039 95121040 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 13 95121039 95121040 - A INS DCT ENST00000446125 human ensembl 74_37 -1 known frame_shift_ins c.556_555 p.V185fs 1.000:0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 372 0 0 162 45 21.7391 INF2 0 genome.wustl.edu 37 14 105174185 105174185 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105174185 105174185 C - DEL INF2 ENST00000392634 human ensembl 74_37 +1 known frame_shift_del c.1581 p.V530fs 0.011 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 40 0 0 17 8 32 AHNAK2 0 genome.wustl.edu 37 14 105406621 105406621 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 105406621 105406621 C - DEL AHNAK2 ENST00000333244 human ensembl 74_37 -1 known frame_shift_del c.15167 p.G5056fs 0.013 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 280 0 0 175 53 23.2456 LOC101929718 0 genome.wustl.edu 37 14 21464349 21464349 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21464349 21464349 T - DEL LOC101929718 ENST00000557335 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-84C10.4 Clone_based_vega_gene ENSG00000258471 653 0 0 391 155 28.3883 ARHGEF40 0 genome.wustl.edu 37 14 21546604 21546604 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21546604 21546604 G - DEL ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known frame_shift_del c.2203 p.A737fs 0.899 NULL pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 217 0 0 145 23 13.6905 ZNF219 0 genome.wustl.edu 37 14 21561669 21561670 + RNA INS - - AG TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21561669 21561670 - AG INS ZNF219 ENST00000556101 human ensembl 74_37 -1 putative rna NULL NULL 0.047:0.039 - - - no_errors ZNF219 HGNC ENSG00000165804 97 0 0 51 10 16.3934 CHD8 0 genome.wustl.edu 37 14 21859175 21859176 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21859175 21859176 - T INS CHD8 ENST00000399982 human ensembl 74_37 -1 known frame_shift_ins c.7113_7112 p.N2371fs 0.915:1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 24 0 0 16 3 15.7895 CHD8 0 genome.wustl.edu 37 14 21883980 21883981 + In_Frame_Ins INS - - TCT TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 21883980 21883981 - TCT INS CHD8 ENST00000399982 human ensembl 74_37 -1 known in_frame_ins c.1803_1802 p.602in_frame_insE 0.999:1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 281 1 0.35461 176 39 18.1395 HECTD1 0 genome.wustl.edu 37 14 31576889 31576891 + In_Frame_Del DEL CTT CTT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 31576889 31576891 CTT - DEL HECTD1 ENST00000399332 human ensembl 74_37 -1 known in_frame_del c.6502_6500 p.E2167in_frame_del 1.000:1.000:1.000 superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 159 0 0 86 22 20.3704 ARHGAP5 0 genome.wustl.edu 37 14 32562696 32562696 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 32562696 32562696 A - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2821 p.N943fs 1.000 NULL pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 121 0 0 62 15 19.4805 FOXA1 0 genome.wustl.edu 37 14 38061905 38061907 + In_Frame_Del DEL GGA GGA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 38061905 38061907 GGA - DEL FOXA1 ENST00000250448 human ensembl 74_37 -1 known in_frame_del c.84_82 p.S28in_frame_del 0.197:1.000:1.000 pfam_Fork-head_N pfam_TF_fork_head,pfam_Fork-head_N,pfam_Forkhead_box_C,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXA1 HGNC ENSG00000129514 191 0 0 84 16 16 CTAGE5 0 genome.wustl.edu 37 14 39746243 39746243 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 39746243 39746243 T - DEL CTAGE5 ENST00000396158 human ensembl 74_37 +1 known frame_shift_del c.169 p.L59fs 0.000 NULL NULL - no_errors CTAGE5 HGNC ENSG00000150527 204 2 0.970874 119 38 24.2038 C14orf28 0 genome.wustl.edu 37 14 45369723 45369724 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 45369723 45369724 - G INS C14orf28 ENST00000325192 human ensembl 74_37 +1 known frame_shift_ins c.85_86 p.V32fs 1.000:1.000 NULL NULL - no_errors C14orf28 HGNC ENSG00000179476 171 0 0 85 42 33.0709 FAM179B 0 genome.wustl.edu 37 14 45481238 45481239 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 45481238 45481239 - A INS FAM179B ENST00000361577 human ensembl 74_37 +1 known frame_shift_ins c.3198_3199 p.I1068fs 0.993:0.997 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 132 0 0 72 15 17.2414 GNPNAT1 0 genome.wustl.edu 37 14 53250196 53250196 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 53250196 53250196 A - DEL GNPNAT1 ENST00000216410 human ensembl 74_37 -1 known frame_shift_del c.162 p.F54fs 0.996 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors GNPNAT1 HGNC ENSG00000100522 89 0 0 50 14 21.875 DDHD1 0 genome.wustl.edu 37 14 53619422 53619422 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 53619422 53619422 C - DEL DDHD1 ENST00000323669 human ensembl 74_37 -1 known frame_shift_del c.395 p.G132fs 0.957 NULL pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 30 0 0 20 2 9.09091 OTX2 0 genome.wustl.edu 37 14 57271049 57271049 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 57271049 57271049 G - DEL OTX2 ENST00000339475 human ensembl 74_37 -1 known frame_shift_del c.130 p.R44fs 0.947 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Otx_TF_C,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Otx2_TF,prints_Otx_TF - no_errors OTX2 HGNC ENSG00000165588 115 0 0 63 17 21.25 KIAA0586 0 genome.wustl.edu 37 14 58895013 58895013 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 58895013 58895013 A - DEL KIAA0586 ENST00000261244 human ensembl 74_37 +1 known frame_shift_del c.31 p.K13fs 0.000 NULL NULL - no_errors KIAA0586 HGNC ENSG00000100578 77 0 0 40 3 6.97674 DHRS7 0 genome.wustl.edu 37 14 60616897 60616897 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 60616897 60616897 A - DEL DHRS7 ENST00000216500 human ensembl 74_37 -1 known frame_shift_del c.642 p.F214fs 0.812 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS7 HGNC ENSG00000100612 116 0 0 67 10 12.987 KCNH5 0 genome.wustl.edu 37 14 63417154 63417155 + Frame_Shift_Del DEL AC AC - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 63417154 63417155 AC - DEL KCNH5 ENST00000322893 human ensembl 74_37 -1 known frame_shift_del c.1066_1065 p.F356fs 1.000:0.994 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 206 0 0 132 16 10.8108 ENSG00000272909 0 genome.wustl.edu 37 14 64908057 64908058 + RNA INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 64908057 64908058 - T INS ENSG00000272909 ENST00000609125 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.005 - - - no_errors CTD-2555O16.4 Clone_based_vega_gene ENSG00000272909 129 0 0 95 26 21.4876 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 88940113 88940113 T - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 209 1 0.47619 140 52 27.0833 KCNK13 0 genome.wustl.edu 37 14 90651284 90651285 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 90651284 90651285 - G INS KCNK13 ENST00000282146 human ensembl 74_37 +1 known frame_shift_ins c.1164_1165 p.V390fs 0.587:1.000 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 75 0 0 55 5 8.33333 UNC79 0 genome.wustl.edu 37 14 94088050 94088050 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 147 0 0 91 30 24.7934 TCL6 0 genome.wustl.edu 37 14 96136820 96136821 + RNA INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 14 96136820 96136821 - A INS TCL6 ENST00000352367 human ensembl 74_37 +1 known rna NULL NULL 0.011:0.007 - - - no_errors TCL6 HGNC ENSG00000187621 75 0 0 50 20 28.5714 VIMP 0 genome.wustl.edu 37 15 101816826 101816828 + In_Frame_Del DEL AGA AGA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 101816826 101816828 AGA - DEL VIMP ENST00000537379 human ensembl 74_37 -1 known in_frame_del c.131_129 p.L44in_frame_del 0.998:0.950:0.002 pfam_Selenoprotein_S pfam_Selenoprotein_S - no_errors VIMP HGNC ENSG00000131871 128 0 0 69 25 26.5957 HERC2P3 0 genome.wustl.edu 37 15 20588685 20588685 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 20588685 20588685 A - DEL HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 86 0 0 51 14 21.5385 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 24 0 0 8 6 42.8571 SNORD116-6 0 genome.wustl.edu 37 15 25310193 25310193 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 25310193 25310193 A - DEL SNORD116-6 ENST00000384711 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SNORD116-6 HGNC ENSG00000207442 224 0 0 120 30 20 HERC2 0 genome.wustl.edu 37 15 28421670 28421671 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 28421670 28421671 - G INS HERC2 ENST00000261609 human ensembl 74_37 -1 known frame_shift_ins c.9590_9589 p.Q3197fs 1.000:1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 284 0 0 146 42 22.3404 FAN1 0 genome.wustl.edu 37 15 31198007 31198009 + In_Frame_Del DEL GTG GTG - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GTG GTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 31198007 31198009 GTG - DEL FAN1 ENST00000362065 human ensembl 74_37 +1 known in_frame_del c.1141_1143 p.V382in_frame_del 0.013:0.982:0.996 NULL pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 350 0 0 171 48 21.9178 AQR 0 genome.wustl.edu 37 15 35224524 35224524 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 35224524 35224524 A - DEL AQR ENST00000156471 human ensembl 74_37 -1 known frame_shift_del c.895 p.S299fs 1.000 NULL superfamily_P-loop_NTPase - no_errors AQR HGNC ENSG00000021776 194 0 0 86 37 30.0813 CASC5 0 genome.wustl.edu 37 15 40915672 40915672 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 40915672 40915672 A - DEL CASC5 ENST00000346991 human ensembl 74_37 +1 known frame_shift_del c.3288 p.N1098fs 0.270 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 138 0 0 84 12 12.5 ENSG00000259521 0 genome.wustl.edu 37 15 41319994 41319994 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 41319994 41319994 A - DEL ENSG00000259521 ENST00000560178 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-540O11.4 Clone_based_vega_gene ENSG00000259521 40 0 0 12 8 40 RPAP1 0 genome.wustl.edu 37 15 41815100 41815101 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 41815100 41815101 - G INS RPAP1 ENST00000304330 human ensembl 74_37 -1 known frame_shift_ins c.2605_2604 p.S868fs 1.000:0.997 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 87 0 0 61 11 15.2778 PLA2G4E 0 genome.wustl.edu 37 15 42275979 42275981 + In_Frame_Del DEL CTT CTT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 42275979 42275981 CTT - DEL PLA2G4E ENST00000413860 human ensembl 74_37 -1 known in_frame_del c.2493_2491 p.K831in_frame_del 0.156:0.613:0.992 superfamily_Acyl_Trfase/lysoPLipase,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 13 0 0 8 3 27.2727 TUBGCP4 0 genome.wustl.edu 37 15 43670055 43670055 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 43670055 43670055 T - DEL TUBGCP4 ENST00000260383 human ensembl 74_37 +1 known frame_shift_del c.395 p.S135fs 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP4 HGNC ENSG00000137822 173 0 0 148 10 6.32911 CEP152 0 genome.wustl.edu 37 15 49036443 49036443 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 49036443 49036443 T - DEL CEP152 ENST00000380950 human ensembl 74_37 -1 known frame_shift_del c.3829 p.I1277fs 1.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 96 0 0 71 19 21.1111 FAM214A 0 genome.wustl.edu 37 15 52901069 52901069 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 52901069 52901069 T - DEL FAM214A ENST00000261844 human ensembl 74_37 -1 known frame_shift_del c.2042 p.N681fs 0.001 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 100 0 0 34 15 30.6122 ZNF280D 0 genome.wustl.edu 37 15 56924285 56924285 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 56924285 56924285 T - DEL ZNF280D ENST00000267807 human ensembl 74_37 -1 known frame_shift_del c.2351 p.N784fs 0.121 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280D HGNC ENSG00000137871 86 0 0 54 16 22.8571 ENSG00000261460 0 genome.wustl.edu 37 15 72638557 72638557 + RNA DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 72638557 72638557 C - DEL ENSG00000261460 ENST00000570175 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-106M3.3 Clone_based_vega_gene ENSG00000261460 37 0 0 13 9 40.9091 STRA6 0 genome.wustl.edu 37 15 74494643 74494643 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 74494643 74494643 A - DEL STRA6 ENST00000573456 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors STRA6 HGNC ENSG00000137868 31 0 0 37 7 15.9091 IL16 0 genome.wustl.edu 37 15 81585324 81585325 + Frame_Shift_Del DEL AG AG - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 81585324 81585325 AG - DEL IL16 ENST00000302987 human ensembl 74_37 +1 known frame_shift_del c.1848_1849 p.N620fs 0.000:0.008 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_IL-16 - no_errors IL16 HGNC ENSG00000172349 96 0 0 65 6 8.4507 KIF7 0 genome.wustl.edu 37 15 90190146 90190147 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 15 90190146 90190147 - G INS KIF7 ENST00000394412 human ensembl 74_37 -1 known frame_shift_ins c.1703_1702 p.L568fs 0.995:0.995 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 109 0 0 60 16 21.0526 TVP23A 0 genome.wustl.edu 37 16 10867203 10867203 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 10867203 10867203 A - DEL TVP23A ENST00000299866 human ensembl 74_37 -1 known frame_shift_del c.420 p.F140fs 1.000 pfam_DUF846_euk pfam_DUF846_euk - no_errors TVP23A HGNC ENSG00000166676 138 0 0 71 19 21.1111 NPRL3 0 genome.wustl.edu 37 16 167321 167321 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 167321 167321 A - DEL NPRL3 ENST00000399953 human ensembl 74_37 -1 known frame_shift_del c.372 p.F124fs 0.982 pfam_NPR3 pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 50 0 0 33 9 21.4286 KNOP1 0 genome.wustl.edu 37 16 19725706 19725706 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 19725706 19725706 T - DEL KNOP1 ENST00000219837 human ensembl 74_37 -1 known frame_shift_del c.652 p.I218fs 0.397 NULL NULL - no_errors KNOP1 HGNC ENSG00000103550 216 0 0 161 22 12.0219 ACSM3 0 genome.wustl.edu 37 16 20807775 20807776 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 20807775 20807776 - A INS ACSM3 ENST00000289416 human ensembl 74_37 +1 known frame_shift_ins c.1638_1639 p.T548fs 0.822:0.991 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM3 HGNC ENSG00000005187 139 0 0 75 24 24.2424 BRICD5 0 genome.wustl.edu 37 16 2259579 2259579 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 2259579 2259579 G - DEL BRICD5 ENST00000562360 human ensembl 74_37 -1 known frame_shift_del c.567 p.I190fs 1.000 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors BRICD5 HGNC ENSG00000182685 293 1 0.340136 164 49 23.0047 AQP8 0 genome.wustl.edu 37 16 25232875 25232875 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 25232875 25232875 G - DEL AQP8 ENST00000219660 human ensembl 74_37 +1 known frame_shift_del c.358 p.M122fs 1.000 pfam_MIP,superfamily_Aquaporin-like,prints_MIP pfam_MIP,superfamily_Aquaporin-like,prints_Aquaporin_8,prints_MIP - no_errors AQP8 HGNC ENSG00000103375 258 0 0 141 30 17.5439 PAGR1 0 genome.wustl.edu 37 16 29831021 29831021 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 29831021 29831021 C - DEL PAGR1 ENST00000609618 human ensembl 74_37 +1 known frame_shift_del c.711 p.P239fs 1.000 NULL NULL - no_errors PAGR1 Uniprot_gn ENSG00000263136 243 0 0 124 10 7.46269 CLDN6 0 genome.wustl.edu 37 16 3065455 3065456 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 3065455 3065456 - C INS CLDN6 ENST00000328796 human ensembl 74_37 -1 known frame_shift_ins c.568_567 p.S189fs 0.016:0.007 prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 101 0 0 75 12 13.7931 OR1F1 0 genome.wustl.edu 37 16 3254416 3254416 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 3254416 3254416 C - DEL OR1F1 ENST00000304646 human ensembl 74_37 +1 known frame_shift_del c.170 p.M59fs 0.022 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 OR1F1 HGNC ENSG00000168124 268 0 0 185 11 5.61224 ZSCAN32 0 genome.wustl.edu 37 16 3433031 3433032 + Frame_Shift_Del DEL CA CA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 3433031 3433032 CA - DEL ZSCAN32 ENST00000396846 human ensembl 74_37 -1 known frame_shift_del c.1915_1914 p.C638fs 1.000:1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN32 HGNC ENSG00000140987 170 0 0 83 14 14.433 CREBBP 0 genome.wustl.edu 37 16 3817720 3817721 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 3817720 3817721 - T INS CREBBP ENST00000262367 human ensembl 74_37 -1 known frame_shift_ins c.3251_3250 p.I1084fs 1.000:1.000 superfamily_Bromodomain,smart_Bromodomain 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 290 0 0 165 47 22.1698 NETO2 0 genome.wustl.edu 37 16 47120148 47120148 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 47120148 47120148 T - DEL NETO2 ENST00000562435 human ensembl 74_37 -1 known frame_shift_del c.986 p.N329fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 105 0 0 94 8 7.84314 SEPT12 0 genome.wustl.edu 37 16 4827851 4827851 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4827851 4827851 G - DEL SEPT12 ENST00000268231 human ensembl 74_37 -1 known frame_shift_del c.1024 p.R342fs 0.000 pirsf_Septin pfam_Cell_div_GTP-bd,pfam_AIG1,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT12 HGNC ENSG00000140623 30 0 0 6 3 33.3333 GLYR1 0 genome.wustl.edu 37 16 4862229 4862229 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4862229 4862229 C - DEL GLYR1 ENST00000321919 human ensembl 74_37 -1 known frame_shift_del c.1140 p.R381fs 0.170 pfam_6PGDH_NADP-bd pfam_6PGDH_NADP-bd,pfam_PWWP_dom,superfamily_6-PGluconate_DH_C-like,smart_PWWP_dom,pfscan_PWWP_dom - no_errors GLYR1 HGNC ENSG00000140632 69 0 0 38 6 13.6364 PPL 0 genome.wustl.edu 37 16 4944499 4944500 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 4944499 4944500 - G INS PPL ENST00000345988 human ensembl 74_37 -1 known frame_shift_ins c.1363_1362 p.T454fs 0.994:0.933 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 141 0 0 95 27 22.1311 NKD1 0 genome.wustl.edu 37 16 50667134 50667135 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 50667134 50667135 - C INS NKD1 ENST00000268459 human ensembl 74_37 +1 known frame_shift_ins c.855_856 p.R287fs 1.000:1.000 NULL pfscan_EF_hand_dom - no_errors NKD1 HGNC ENSG00000140807 169 0 0 85 34 28.5714 RBL2 0 genome.wustl.edu 37 16 53476704 53476704 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 53476704 53476704 T - DEL RBL2 ENST00000262133 human ensembl 74_37 +1 known frame_shift_del c.506 p.Q171fs 1.000 pfam_RB_N pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 122 0 0 64 19 22.8916 NUDT21 0 genome.wustl.edu 37 16 56485066 56485066 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 56485066 56485066 C - DEL NUDT21 ENST00000300291 human ensembl 74_37 -1 known frame_shift_del c.49 p.V17fs 1.000 pirsf_Cleav_polyA_spec_factor_su5 superfamily_NUDIX_hydrolase_dom-like,pirsf_Cleav_polyA_spec_factor_su5 - no_errors NUDT21 HGNC ENSG00000167005 159 0 0 100 12 10.7143 CNOT1 0 genome.wustl.edu 37 16 58589340 58589340 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 58589340 58589340 A - DEL CNOT1 ENST00000317147 human ensembl 74_37 -1 known frame_shift_del c.2706 p.Q904fs 0.995 NULL pfam_CCR4-Not_Not1_C,superfamily_ARM-type_fold - no_errors CNOT1 HGNC ENSG00000125107 366 0 0 218 46 17.4242 FHOD1 0 genome.wustl.edu 37 16 67267852 67267852 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67267852 67267852 G - DEL FHOD1 ENST00000258201 human ensembl 74_37 -1 known frame_shift_del c.1754 p.P585fs 1.000 NULL pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD1 HGNC ENSG00000135723 40 0 0 20 15 42.8571 KCTD19 0 genome.wustl.edu 37 16 67325658 67325658 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 67325658 67325658 G - DEL KCTD19 ENST00000304372 human ensembl 74_37 -1 known frame_shift_del c.2301 p.V768fs 0.051 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 129 0 0 73 24 24.7423 CTCF 0 genome.wustl.edu 37 16 67645338 67645339 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 162 0 0 86 23 21.1009 COG4 0 genome.wustl.edu 37 16 70543282 70543282 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 70543282 70543282 C - DEL COG4 ENST00000323786 human ensembl 74_37 -1 known frame_shift_del c.854 p.R285fs 1.000 pfam_COG_su4,smart_COG_su4 pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 132 0 0 81 18 18.1818 ZFHX3 0 genome.wustl.edu 37 16 72830903 72830904 + Frame_Shift_Del DEL CT CT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 72830903 72830904 CT - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.5678_5677 p.R1893fs 0.999:0.991 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 186 0 0 132 8 5.71429 ZFHX3 0 genome.wustl.edu 37 16 72991671 72991671 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 72991671 72991671 C - DEL ZFHX3 ENST00000268489 human ensembl 74_37 -1 known frame_shift_del c.2374 p.A792fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 161 0 0 75 21 21.875 CHTF18 0 genome.wustl.edu 37 16 846972 846972 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 846972 846972 C - DEL CHTF18 ENST00000317063 human ensembl 74_37 +1 known frame_shift_del c.3240 p.P1082fs 0.000 NULL pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors CHTF18 HGNC ENSG00000127586 300 0 0 240 13 5.13834 C16orf74 0 genome.wustl.edu 37 16 85743813 85743813 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 85743813 85743813 G - DEL C16orf74 ENST00000284245 human ensembl 74_37 -1 known frame_shift_del c.129 p.T44fs 0.601 NULL NULL - no_errors C16orf74 HGNC ENSG00000154102 15 0 0 6 3 33.3333 ANKRD11 0 genome.wustl.edu 37 16 89349641 89349641 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 89349641 89349641 T - DEL ANKRD11 ENST00000301030 human ensembl 74_37 -1 known frame_shift_del c.3309 p.D1104fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 421 0 0 271 108 28.496 CENPBD1 0 genome.wustl.edu 37 16 90038141 90038141 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 90038141 90038141 T - DEL CENPBD1 ENST00000314994 human ensembl 74_37 -1 known frame_shift_del c.190 p.I64fs 0.056 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors CENPBD1 HGNC ENSG00000177946 62 0 0 27 14 34.1463 GRIN2A 0 genome.wustl.edu 37 16 9857380 9857380 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 16 9857380 9857380 T - DEL GRIN2A ENST00000330684 human ensembl 74_37 -1 known frame_shift_del c.4021 p.S1341fs 0.070 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 170 0 0 70 36 33.9623 ZSWIM7 0 genome.wustl.edu 37 17 15897110 15897110 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 15897110 15897110 A - DEL ZSWIM7 ENST00000475498 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ZSWIM7 HGNC ENSG00000214941 77 0 0 41 10 19.6078 C17orf76-AS1 0 genome.wustl.edu 37 17 16344524 16344524 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 16344524 16344524 A - DEL C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 126 1 0.787402 72 14 16.2791 MPRIP 0 genome.wustl.edu 37 17 17046886 17046886 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 17046886 17046886 C - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1052 p.P353fs 0.999 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 34 0 0 17 6 26.087 NT5M 0 genome.wustl.edu 37 17 17250190 17250190 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 17250190 17250190 C - DEL NT5M ENST00000389022 human ensembl 74_37 +1 known frame_shift_del c.616 p.R208fs 1.000 pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom pfam_5'(3')-deoxyribonucleotidase,superfamily_HAD-like_dom - no_errors NT5M HGNC ENSG00000205309 91 0 0 60 11 15.493 ZNF286B 0 genome.wustl.edu 37 17 18566528 18566529 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 18566528 18566529 - A INS ZNF286B ENST00000545289 human ensembl 74_37 -1 known frame_shift_ins c.291_290 p.L97fs 0.526:0.532 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF286B HGNC ENSG00000249459 88 0 0 59 14 19.1781 UBBP4 0 genome.wustl.edu 37 17 21731488 21731489 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 21731488 21731489 - C INS UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_ins c.563_564 p.D191fs 1.000:1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 89 0 0 49 10 16.9492 NLK 0 genome.wustl.edu 37 17 26449739 26449740 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 26449739 26449740 - T INS NLK ENST00000407008 human ensembl 74_37 +1 known frame_shift_ins c.569_570 p.K193fs 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,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 174 0 0 124 12 8.82353 PIGS 0 genome.wustl.edu 37 17 26898027 26898027 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 26898027 26898027 G - DEL PIGS ENST00000582721 human ensembl 74_37 -1 known frame_shift_del c.214 p.R72fs 0.000 NULL pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 200 0 0 109 35 24.3056 PHF12 0 genome.wustl.edu 37 17 27233246 27233247 + Frame_Shift_Del DEL GA GA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 27233246 27233247 GA - DEL PHF12 ENST00000332830 human ensembl 74_37 -1 known frame_shift_del c.2970_2969 p.L990fs 1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 97 0 0 47 5 9.61538 TMEM132E 0 genome.wustl.edu 37 17 32953916 32953916 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 32953916 32953916 C - DEL TMEM132E ENST00000321639 human ensembl 74_37 +1 known frame_shift_del c.568 p.R192fs 0.996 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 65 0 0 32 13 28.8889 DDX52 0 genome.wustl.edu 37 17 35993318 35993319 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 35993318 35993319 - T INS DDX52 ENST00000349699 human ensembl 74_37 -1 known frame_shift_ins c.417_416 p.I140fs 1.000:1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 181 0 0 137 12 8.05369 CCDC43 0 genome.wustl.edu 37 17 42756253 42756253 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 42756253 42756253 T - DEL CCDC43 ENST00000315286 human ensembl 74_37 -1 known frame_shift_del c.646 p.R216fs 1.000 NULL NULL - no_errors CCDC43 HGNC ENSG00000180329 76 0 0 37 18 32.7273 KIF18B 0 genome.wustl.edu 37 17 43006220 43006220 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 43006220 43006220 C - DEL KIF18B ENST00000339151 human ensembl 74_37 -1 known frame_shift_del c.1726 p.A576fs 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF18B HGNC ENSG00000186185 61 0 0 23 8 25.8065 GGT6 0 genome.wustl.edu 37 17 4461470 4461471 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 4461470 4461471 - T INS GGT6 ENST00000574154 human ensembl 74_37 -1 known frame_shift_ins c.1322_1321 p.R441fs 0.000:0.003 NULL pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT6 HGNC ENSG00000167741 125 0 0 71 14 16.4706 SP2 0 genome.wustl.edu 37 17 45994350 45994350 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 45994350 45994350 C - DEL SP2 ENST00000376741 human ensembl 74_37 +1 known frame_shift_del c.913 p.K307fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP2 HGNC ENSG00000167182 151 0 0 112 8 6.66667 XYLT2 0 genome.wustl.edu 37 17 48433967 48433967 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 48433967 48433967 C - DEL XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_del c.1578 p.G529fs 1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 138 0 0 91 18 16.5138 USP6 0 genome.wustl.edu 37 17 5049390 5049391 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 5049390 5049391 - A INS USP6 ENST00000250066 human ensembl 74_37 +1 known frame_shift_ins c.2240_2241 p.Q750fs 1.000:0.999 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom,pfscan_Peptidase_C19/C67 - no_errors USP6 HGNC ENSG00000129204 165 0 0 111 43 27.9221 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 330 0 0 145 73 33.4862 PRR11 0 genome.wustl.edu 37 17 57247171 57247171 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 57247171 57247171 A - DEL PRR11 ENST00000262293 human ensembl 74_37 +1 known frame_shift_del c.58 p.E23fs 0.749 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 126 0 0 57 23 28.75 RPL12P38 0 genome.wustl.edu 37 17 58512419 58512419 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 58512419 58512419 A - DEL RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 25 0 0 13 6 31.5789 AXIN2 0 genome.wustl.edu 37 17 63532584 63532585 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 63532584 63532585 - C INS AXIN2 ENST00000307078 human ensembl 74_37 -1 known frame_shift_ins c.1995_1994 p.N666fs 0.125:0.436 NULL pfam_DIX,pfam_RGS_dom,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors AXIN2 HGNC ENSG00000168646 138 0 0 56 16 22.2222 ABCA6 0 genome.wustl.edu 37 17 67125767 67125767 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 67125767 67125767 A - DEL ABCA6 ENST00000284425 human ensembl 74_37 -1 known frame_shift_del c.917 p.L306fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 145 0 0 105 22 17.3228 PHF23 0 genome.wustl.edu 37 17 7139443 7139443 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 7139443 7139443 C - DEL PHF23 ENST00000320316 human ensembl 74_37 -1 known frame_shift_del c.803 p.G268fs 0.836 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF23 HGNC ENSG00000040633 283 0 0 167 51 23.3945 KIAA0195 0 genome.wustl.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 73491063 73491063 C - DEL KIAA0195 ENST00000314256 human ensembl 74_37 +1 known frame_shift_del c.2676 p.S895fs 0.999 NULL pfam_ATPase_P-typ_cation-transptr_C - no_errors KIAA0195 HGNC ENSG00000177728 195 0 0 127 14 9.92908 GALK1 0 genome.wustl.edu 37 17 73759466 73759466 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 73759466 73759466 C - DEL GALK1 ENST00000437911 human ensembl 74_37 -1 known frame_shift_del c.500 p.G167fs 1.000 pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase pfam_GalKase_gal-bd,pfam_GHMP_kinase_C_dom,pfam_GHMP_kinase_N_dom,superfamily_Ribosomal_S5_D2-typ_fold,pirsf_Galactokinase,prints_Mevalonate/galactokinase,prints_Galactokinase,prints_Galkinase,tigrfam_Galactokinase - no_errors GALK1 HGNC ENSG00000108479 47 0 0 25 4 13.7931 UNK 0 genome.wustl.edu 37 17 73780852 73780852 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 73780852 73780852 G - DEL UNK ENST00000293218 human ensembl 74_37 +1 known frame_shift_del c.119 p.V42fs 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors UNK HGNC ENSG00000132478 62 0 0 36 7 16.2791 CARD14 0 genome.wustl.edu 37 17 78172264 78172264 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 78172264 78172264 G - DEL CARD14 ENST00000344227 human ensembl 74_37 +1 known frame_shift_del c.1725 p.D577fs 1.000 pfscan_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD,pfscan_PDZ,pfscan_Guanylate_kin-like - no_errors CARD14 HGNC ENSG00000141527 168 0 0 80 25 23.8095 TSPAN10 0 genome.wustl.edu 37 17 79612317 79612317 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 17 79612317 79612317 G - DEL TSPAN10 ENST00000328585 human ensembl 74_37 +1 known frame_shift_del c.336 p.116fs 0.002 pfam_Tetraspanin/Peripherin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN10 HGNC ENSG00000182612 75 0 0 53 13 19.697 LDLRAD4 0 genome.wustl.edu 37 18 13612766 13612766 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 13612766 13612766 A - DEL LDLRAD4 ENST00000587757 human ensembl 74_37 +1 known frame_shift_del c.63 p.A24fs 0.789 NULL NULL - no_errors LDLRAD4 HGNC ENSG00000168675 82 0 0 51 16 23.8806 TTC39C 0 genome.wustl.edu 37 18 21660762 21660762 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 21660762 21660762 T - DEL TTC39C ENST00000317571 human ensembl 74_37 +1 known frame_shift_del c.674 p.H227fs 1.000 pfam_OMP_IML2_mit/TPR_39 pfam_OMP_IML2_mit/TPR_39,pfam_Cohesin_loading_factor - no_errors TTC39C HGNC ENSG00000168234 131 0 0 74 32 30.1887 DSG3 0 genome.wustl.edu 37 18 29044269 29044269 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 29044269 29044269 A - DEL DSG3 ENST00000257189 human ensembl 74_37 +1 known frame_shift_del c.1195 p.K400fs 0.030 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG3 HGNC ENSG00000134757 191 0 0 86 35 28.9256 EMILIN2 0 genome.wustl.edu 37 18 2913316 2913316 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 2913316 2913316 G - DEL EMILIN2 ENST00000254528 human ensembl 74_37 +1 known frame_shift_del c.3076 p.G1027fs 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_EMI_domain,pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,pfscan_EMI_domain - no_errors EMILIN2 HGNC ENSG00000132205 142 0 0 75 10 11.7647 LPIN2 0 genome.wustl.edu 37 18 2920395 2920395 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 2920395 2920395 G - DEL LPIN2 ENST00000261596 human ensembl 74_37 -1 known frame_shift_del c.2587 p.L863fs 0.999 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 127 0 0 69 15 17.8571 ENSG00000263606 0 genome.wustl.edu 37 18 2946534 2946534 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 2946534 2946534 T - DEL ENSG00000263606 ENST00000581139 human ensembl 74_37 -1 known rna NULL NULL 0.978 - - - no_errors RP11-737O24.3 Clone_based_vega_gene ENSG00000263606 30 0 0 15 7 31.8182 KLHL14 0 genome.wustl.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 30349862 30349862 G - DEL KLHL14 ENST00000359358 human ensembl 74_37 -1 known frame_shift_del c.693 p.V232fs 0.982 pfam_BACK,smart_BACK,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 KLHL14 HGNC ENSG00000197705 85 0 0 47 17 26.5625 FHOD3 0 genome.wustl.edu 37 18 34205516 34205516 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 34205516 34205516 C - DEL FHOD3 ENST00000257209 human ensembl 74_37 +1 known frame_shift_del c.1000 p.S336fs 0.999 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 131 0 0 66 20 23.2558 WDR7 0 genome.wustl.edu 37 18 54358511 54358512 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 54358511 54358512 - T INS WDR7 ENST00000254442 human ensembl 74_37 +1 known frame_shift_ins c.782_783 p.G262fs 1.000:0.277 superfamily_Quinonprotein_ADH-like_supfam pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 278 0 0 170 45 20.9302 ATP8B1 0 genome.wustl.edu 37 18 55365039 55365040 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 55365039 55365040 - T INS ATP8B1 ENST00000283684 human ensembl 74_37 -1 known frame_shift_ins c.615_614 p.N205fs 1.000:1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 77 0 0 45 14 23.7288 NEDD4L 0 genome.wustl.edu 37 18 55990515 55990515 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 55990515 55990515 A - DEL NEDD4L ENST00000400345 human ensembl 74_37 +1 known frame_shift_del c.462 p.N156fs 0.010 superfamily_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_C2_dom,superfamily_WW_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom,prints_C2_dom - no_errors NEDD4L HGNC ENSG00000049759 28 0 0 12 7 36.8421 PHLPP1 0 genome.wustl.edu 37 18 60506242 60506242 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 60506242 60506242 T - DEL PHLPP1 ENST00000588953 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PHLPP1 HGNC ENSG00000081913 42 0 0 18 9 33.3333 SERPINB12 0 genome.wustl.edu 37 18 61228375 61228376 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 61228375 61228376 - A INS SERPINB12 ENST00000269491 human ensembl 74_37 +1 known frame_shift_ins c.442_443 p.N150fs 0.524:0.009 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 219 1 0.454545 143 35 19.6629 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 61584739 61584739 A - DEL SERPINB10 ENST00000238508 human ensembl 74_37 +1 known frame_shift_del c.218 p.R76fs 0.998 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB10 HGNC ENSG00000242550 21 0 0 10 7 41.1765 TSHZ1 0 genome.wustl.edu 37 18 72998443 72998443 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 72998443 72998443 C - DEL TSHZ1 ENST00000580243 human ensembl 74_37 +1 known frame_shift_del c.1081 p.C363fs 0.898 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ1 HGNC ENSG00000179981 150 1 0.662252 96 14 12.7273 ANKRD12 0 genome.wustl.edu 37 18 9256062 9256062 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 18 9256062 9256062 A - DEL ANKRD12 ENST00000262126 human ensembl 74_37 +1 known frame_shift_del c.2797 p.N935fs 0.997 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 ANKRD12 HGNC ENSG00000101745 18 0 0 13 5 27.7778 ILF3 0 genome.wustl.edu 37 19 10794194 10794195 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 10794194 10794195 - G INS ILF3 ENST00000449870 human ensembl 74_37 +1 known frame_shift_ins c.1839_1840 p.P615fs 0.625:0.723 NULL pfam_DZF,pfam_dsRNA-bd_dom,smart_DZF,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors ILF3 HGNC ENSG00000129351 183 0 0 114 27 19.1489 DAZAP1 0 genome.wustl.edu 37 19 1430254 1430254 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 1430254 1430254 C - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.764 p.P257fs 0.998 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 62 0 0 37 9 19.5652 ANO8 0 genome.wustl.edu 37 19 17435828 17435828 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 17435828 17435828 G - DEL ANO8 ENST00000159087 human ensembl 74_37 -1 known frame_shift_del c.3029 p.P1010fs 0.419 NULL pfam_Anoctamin - no_errors ANO8 HGNC ENSG00000074855 276 0 0 150 38 20.2128 CRTC1 0 genome.wustl.edu 37 19 18887992 18887993 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 18887992 18887993 - C INS CRTC1 ENST00000338797 human ensembl 74_37 +1 known frame_shift_ins c.1753_1754 p.S588fs 1.000:1.000 NULL NULL - no_errors CRTC1 HGNC ENSG00000105662 159 1 0.625 92 29 23.9669 ZNF43 0 genome.wustl.edu 37 19 21992086 21992087 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 21992086 21992087 - T INS ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_ins c.753_752 p.N251fs 0.967:0.932 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 ZNF43 HGNC ENSG00000198521 130 1 0.763359 90 20 18.1818 NFKBID 0 genome.wustl.edu 37 19 36388622 36388623 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 36388622 36388623 - T INS NFKBID ENST00000352614 human ensembl 74_37 -1 known frame_shift_ins c.393_392 p.N131fs 0.006:0.004 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors NFKBID HGNC ENSG00000167604 109 0 0 76 24 24 DYRK1B 0 genome.wustl.edu 37 19 40320999 40320999 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 40320999 40320999 G - DEL DYRK1B ENST00000601972 human ensembl 74_37 -1 putative frame_shift_del c.388 p.H130fs 0.002 NULL superfamily_Kinase-like_dom - no_errors DYRK1B HGNC ENSG00000105204 95 0 0 58 21 26.5823 SERTAD1 0 genome.wustl.edu 37 19 40929341 40929341 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 40929341 40929341 G - DEL SERTAD1 ENST00000357949 human ensembl 74_37 -1 known frame_shift_del c.113 p.P38fs 0.018 pfscan_SERTA pfam_SERTA,pfscan_SERTA - no_errors SERTAD1 HGNC ENSG00000197019 103 0 0 64 15 18.9873 SNRPA 0 genome.wustl.edu 37 19 41265481 41265481 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 41265481 41265481 C - DEL SNRPA ENST00000243563 human ensembl 74_37 +1 known frame_shift_del c.392 p.V133fs 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SNRPA HGNC ENSG00000077312 96 0 0 66 14 17.5 RTN2 0 genome.wustl.edu 37 19 45996513 45996513 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 45996513 45996513 G - DEL RTN2 ENST00000245923 human ensembl 74_37 -1 known frame_shift_del c.938 p.P313fs 0.005 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN2 HGNC ENSG00000125744 311 0 0 188 26 12.1495 SIX5 0 genome.wustl.edu 37 19 46269107 46269107 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 46269107 46269107 G - DEL SIX5 ENST00000317578 human ensembl 74_37 -1 known frame_shift_del c.1872 p.A625fs 0.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors SIX5 HGNC ENSG00000177045 44 0 0 15 8 34.7826 TEAD2 0 genome.wustl.edu 37 19 49850473 49850473 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 49850473 49850473 G - DEL TEAD2 ENST00000311227 human ensembl 74_37 -1 known frame_shift_del c.883 p.H295fs 0.961 pfam_TEA/ATTS,pirsf_TEF pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD2 HGNC ENSG00000074219 531 0 0 296 86 22.5131 SCAF1 0 genome.wustl.edu 37 19 50155693 50155694 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 50155693 50155694 - G INS SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_ins c.2047_2048 p.A685fs 0.998:0.997 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 28 0 0 13 5 27.7778 ENSG00000267896 0 genome.wustl.edu 37 19 50363639 50363639 + RNA DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 50363639 50363639 G - DEL ENSG00000267896 ENST00000596624 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC018766.4 Clone_based_vega_gene ENSG00000267896 15 0 0 6 3 33.3333 NLRP12 0 genome.wustl.edu 37 19 54310804 54310804 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 54310804 54310804 C - DEL NLRP12 ENST00000324134 human ensembl 74_37 -1 known frame_shift_del c.2188 p.V730fs 0.996 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 NLRP12 HGNC ENSG00000142405 75 0 0 30 17 36.1702 DNAAF3 0 genome.wustl.edu 37 19 55672058 55672059 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 55672058 55672059 - C INS DNAAF3 ENST00000527223 human ensembl 74_37 -1 known frame_shift_ins c.1202_1201 p.D401fs 0.001:0.002 NULL NULL - no_errors DNAAF3 HGNC ENSG00000167646 281 1 0.35461 168 32 16 BRSK1 0 genome.wustl.edu 37 19 55815036 55815036 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 55815036 55815036 C - DEL BRSK1 ENST00000590333 human ensembl 74_37 +1 known frame_shift_del c.1176 p.R395fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors BRSK1 HGNC ENSG00000160469 160 1 0.621118 98 40 28.9855 ZNF749 0 genome.wustl.edu 37 19 57955159 57955160 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 57955159 57955160 - A INS ZNF749 ENST00000334181 human ensembl 74_37 +1 known frame_shift_ins c.643_644 p.T217fs 0.100:0.073 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 ZNF749 HGNC ENSG00000186230 97 0 0 48 18 27.2727 BSG 0 genome.wustl.edu 37 19 579603 579603 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 579603 579603 G - DEL BSG ENST00000333511 human ensembl 74_37 +1 known frame_shift_del c.519 p.G175fs 0.001 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors BSG HGNC ENSG00000172270 158 0 0 80 6 6.97674 CAMSAP3 0 genome.wustl.edu 37 19 7675769 7675769 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 7675769 7675769 C - DEL CAMSAP3 ENST00000446248 human ensembl 74_37 +1 known frame_shift_del c.1082 p.R363fs 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP3 HGNC ENSG00000076826 141 0 0 93 11 10.5769 FBN3 0 genome.wustl.edu 37 19 8162273 8162273 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 8162273 8162273 G - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.5187 p.A1730fs 0.003 pfam_EGF-like_Ca-bd_dom,superfamily_TB_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 44 0 0 26 4 13.3333 OR7E24 0 genome.wustl.edu 37 19 9362217 9362217 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 19 9362217 9362217 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.498 p.F168fs 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 102 0 0 55 20 26.6667 MFSD9 0 genome.wustl.edu 37 2 103334978 103334978 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 103334978 103334978 G - DEL MFSD9 ENST00000258436 human ensembl 74_37 -1 known frame_shift_del c.1326 p.S443fs 0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 128 0 0 71 12 14.4578 RGPD3 0 genome.wustl.edu 37 2 107041513 107041513 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 107041513 107041513 A - DEL RGPD3 ENST00000304514 human ensembl 74_37 -1 known frame_shift_del c.2910 p.F970fs 0.984 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD3 HGNC ENSG00000153165 589 0 0 408 44 9.73451 NPHP1 0 genome.wustl.edu 37 2 110926098 110926098 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 110926098 110926098 T - DEL NPHP1 ENST00000316534 human ensembl 74_37 -1 known frame_shift_del c.555 p.K185fs 0.398 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 236 0 0 177 32 15.311 ANAPC1 0 genome.wustl.edu 37 2 112636490 112636492 + In_Frame_Del DEL TCA TCA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 TCA TCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 112636490 112636492 TCA - DEL ANAPC1 ENST00000341068 human ensembl 74_37 -1 known in_frame_del c.272_270 p.D90in_frame_del 1.000:1.000:0.996 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 326 0 0 206 36 14.876 ROCK2 0 genome.wustl.edu 37 2 11355500 11355500 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 11355500 11355500 T - DEL ROCK2 ENST00000315872 human ensembl 74_37 -1 known frame_shift_del c.1636 p.R546fs 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 64 0 0 49 7 12.5 PTPN4 0 genome.wustl.edu 37 2 120677773 120677773 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 120677773 120677773 T - DEL PTPN4 ENST00000263708 human ensembl 74_37 +1 known frame_shift_del c.957 p.F321fs 1.000 pirsf_Tyr_Pase_non-rcpt_typ-3/4 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,pfam_PDZ,pfam_FERM-adjacent,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors PTPN4 HGNC ENSG00000088179 288 0 0 161 53 24.7664 GPR17 0 genome.wustl.edu 37 2 128409237 128409237 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 128409237 128409237 A - DEL GPR17 ENST00000272644 human ensembl 74_37 +1 known frame_shift_del c.1012 p.N338fs 0.061 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 226 0 0 132 33 20 ACVR2A 0 genome.wustl.edu 37 2 148657041 148657041 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 148657041 148657041 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.278 p.D96fs 1.000 pfam_Activin_rcpt,prints_TGFB_receptor 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 226 0 0 98 45 31.4685 ARL5A 0 genome.wustl.edu 37 2 152684705 152684705 + RNA DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 152684705 152684705 C - DEL ARL5A ENST00000487723 human ensembl 74_37 -1 putative rna NULL NULL 0.920 - - - no_errors ARL5A HGNC ENSG00000162980 35 0 0 28 5 15.1515 TANC1 0 genome.wustl.edu 37 2 159954333 159954334 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 159954333 159954334 - A INS TANC1 ENST00000263635 human ensembl 74_37 +1 known frame_shift_ins c.246_247 p.S84fs 1.000:1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC1 HGNC ENSG00000115183 298 0 0 184 48 20.6897 SLC4A10 0 genome.wustl.edu 37 2 162760516 162760516 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 162760516 162760516 T - DEL SLC4A10 ENST00000446997 human ensembl 74_37 +1 known frame_shift_del c.1445 p.F483fs 1.000 pfam_HCO3_transpt_C,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 14 0 0 6 3 33.3333 SCN1A 0 genome.wustl.edu 37 2 166847923 166847925 + In_Frame_Del DEL AAG AAG - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 166847923 166847925 AAG - DEL SCN1A ENST00000303395 human ensembl 74_37 -1 known in_frame_del c.5862_5860 p.L1954in_frame_del 0.978:0.986:1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a1su,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN1A HGNC ENSG00000144285 125 0 0 53 15 22.0588 DHRS9 0 genome.wustl.edu 37 2 169948388 169948389 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 169948388 169948389 - A INS DHRS9 ENST00000432060 human ensembl 74_37 +1 known frame_shift_ins c.841_842 p.L284fs 0.100:0.158 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 114 0 0 51 22 30.137 CIR1 0 genome.wustl.edu 37 2 175213713 175213713 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 170 0 0 86 32 27.1186 HOXD8 0 genome.wustl.edu 37 2 176995417 176995417 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 176995417 176995417 C - DEL HOXD8 ENST00000313173 human ensembl 74_37 +1 known frame_shift_del c.323 p.P110fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,prints_Homeobox_metazoa,pfscan_Homeobox_dom - no_errors HOXD8 HGNC ENSG00000175879 136 1 0.729927 71 22 23.6559 ENSG00000271011 0 genome.wustl.edu 37 2 179442293 179442293 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179442293 179442293 A - DEL ENSG00000271011 ENST00000604215 human ensembl 74_37 +1 known rna NULL NULL 0.038 - - - no_errors RP11-171I2.5 Clone_based_vega_gene ENSG00000271011 45 0 0 15 9 37.5 TTN-AS1 0 genome.wustl.edu 37 2 179479100 179479100 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179479100 179479100 A - DEL TTN-AS1 ENST00000456053 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors TTN-AS1 HGNC ENSG00000237298 100 0 0 56 11 16.4179 TTN 0 genome.wustl.edu 37 2 179529600 179529600 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 179529600 179529600 T - DEL TTN ENST00000589042 human ensembl 74_37 -1 putative frame_shift_del c.36097 p.R12033fs 0.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_PPAK_motif,pfam_Titin_Z,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,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,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 43 0 0 26 11 29.7297 MYT1L 0 genome.wustl.edu 37 2 1926367 1926367 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 1926367 1926367 G - DEL MYT1L ENST00000399161 human ensembl 74_37 -1 known frame_shift_del c.1174 p.R392fs 0.234 NULL pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 85 0 0 49 8 14.0351 ANKRD44 0 genome.wustl.edu 37 2 197943349 197943349 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 197943349 197943349 A - DEL ANKRD44 ENST00000409153 human ensembl 74_37 -1 known frame_shift_del c.1728 p.P577fs 0.002 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 ANKRD44 HGNC ENSG00000065413 21 0 0 3 2 40 NBEAL1 0 genome.wustl.edu 37 2 204058623 204058623 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 204058623 204058623 T - DEL NBEAL1 ENST00000449802 human ensembl 74_37 +1 known frame_shift_del c.6940 p.F2315fs 1.000 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 177 0 0 118 29 19.7279 INO80D 0 genome.wustl.edu 37 2 206869434 206869436 + In_Frame_Del DEL AAG AAG - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 206869434 206869436 AAG - DEL INO80D ENST00000403263 human ensembl 74_37 -1 known in_frame_del c.2742_2740 p.L914in_frame_del 0.805:1.000:1.000 NULL NULL - no_errors INO80D HGNC ENSG00000114933 86 0 0 33 7 17.5 GCSHP3 0 genome.wustl.edu 37 2 206980715 206980715 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 206980715 206980715 T - DEL GCSHP3 ENST00000453039 human ensembl 74_37 +1 known rna NULL NULL 0.033 - - - no_errors AC007383.4 Clone_based_vega_gene ENSG00000231955 13 0 0 8 4 33.3333 CRYGD 0 genome.wustl.edu 37 2 208986447 208986447 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 208986447 208986447 C - DEL CRYGD ENST00000264376 human ensembl 74_37 -1 known frame_shift_del c.475 p.A159fs 0.200 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 135 0 0 58 19 24.6753 SPAG16 0 genome.wustl.edu 37 2 214878730 214878730 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 214878730 214878730 T - DEL SPAG16 ENST00000331683 human ensembl 74_37 +1 known frame_shift_del c.1456 p.P488fs 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SPAG16 HGNC ENSG00000144451 297 0 0 167 54 24.4344 CNPPD1 0 genome.wustl.edu 37 2 220037412 220037413 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 220037412 220037413 - G INS CNPPD1 ENST00000360507 human ensembl 74_37 -1 known frame_shift_ins c.1129_1128 p.W376fs 0.891:0.041 NULL pfam_Cyclin_PHO80-like,superfamily_Cyclin-like - no_errors CNPPD1 HGNC ENSG00000115649 115 0 0 63 15 19.2308 TRIP12 0 genome.wustl.edu 37 2 230672544 230672544 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 230672544 230672544 A - DEL TRIP12 ENST00000283943 human ensembl 74_37 -1 known frame_shift_del c.2232 p.F744fs 1.000 superfamily_ARM-type_fold pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 72 0 0 34 6 15 UGT1A4 0 genome.wustl.edu 37 2 234627976 234627977 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 234627976 234627977 - T INS UGT1A4 ENST00000373409 human ensembl 74_37 +1 known frame_shift_ins c.510_511 p.W172fs 0.339:0.388 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A4 HGNC ENSG00000244474 432 0 0 271 80 22.792 IQCA1 0 genome.wustl.edu 37 2 237405943 237405943 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 237405943 237405943 G - DEL IQCA1 ENST00000409907 human ensembl 74_37 -1 known frame_shift_del c.199 p.Q67fs 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 59 0 0 29 11 27.5 RBM44 0 genome.wustl.edu 37 2 238725990 238725990 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 238725990 238725990 T - DEL RBM44 ENST00000316997 human ensembl 74_37 +1 known frame_shift_del c.431 p.F146fs 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 40 0 0 13 11 45.8333 HDAC4 0 genome.wustl.edu 37 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 240002823 240002823 G - DEL HDAC4 ENST00000345617 human ensembl 74_37 -1 known frame_shift_del c.2703 p.M902fs 1.000 pfam_His_deacetylse_dom,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 58 0 0 14 10 41.6667 OTOS 0 genome.wustl.edu 37 2 241078631 241078631 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 241078631 241078631 G - DEL OTOS ENST00000319460 human ensembl 74_37 -1 known frame_shift_del c.226 p.L76fs 1.000 NULL NULL - no_errors OTOS HGNC ENSG00000178602 179 0 0 95 8 7.76699 HDLBP 0 genome.wustl.edu 37 2 242178074 242178075 + Frame_Shift_Del DEL CT CT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 242178074 242178075 CT - DEL HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_del c.2739_2738 p.E913fs 1.000:1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 461 0 0 292 118 28.7805 THAP4 0 genome.wustl.edu 37 2 242573292 242573292 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 242573292 242573292 C - DEL THAP4 ENST00000407315 human ensembl 74_37 -1 known frame_shift_del c.280 p.A94fs 0.000 NULL pfam_DUF1794,pfam_Znf_C2CH,superfamily_Calycin-like,smart_Znf_C2CH,pfscan_Znf_C2CH - no_errors THAP4 HGNC ENSG00000176946 309 0 0 163 53 24.537 ZNF513 0 genome.wustl.edu 37 2 27601437 27601437 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 27601437 27601437 G - DEL ZNF513 ENST00000323703 human ensembl 74_37 -1 known frame_shift_del c.696 p.T233fs 0.998 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 126 0 0 87 7 7.44681 SPDYA 0 genome.wustl.edu 37 2 29063182 29063182 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 29063182 29063182 A - DEL SPDYA ENST00000334056 human ensembl 74_37 +1 known frame_shift_del c.697 p.R235fs 1.000 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYA HGNC ENSG00000163806 94 0 0 46 22 32.3529 C2orf71 0 genome.wustl.edu 37 2 29294162 29294162 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 29294162 29294162 G - DEL C2orf71 ENST00000331664 human ensembl 74_37 -1 known frame_shift_del c.2966 p.P989fs 0.000 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 159 0 0 72 26 26.5306 FAM98A 0 genome.wustl.edu 37 2 33809925 33809925 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 33809925 33809925 C - DEL FAM98A ENST00000238823 human ensembl 74_37 -1 known frame_shift_del c.1475 p.G492fs 1.000 NULL pfam_Uncharacterised_FAM98 - no_errors FAM98A HGNC ENSG00000119812 406 1 0.2457 228 68 22.973 EML4 0 genome.wustl.edu 37 2 42488302 42488302 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 42488302 42488302 A - DEL EML4 ENST00000318522 human ensembl 74_37 +1 known frame_shift_del c.380 p.E130fs 1.000 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 108 0 0 39 14 26.4151 MSH6 0 genome.wustl.edu 37 2 48030640 48030640 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 48030640 48030640 C - DEL MSH6 ENST00000234420 human ensembl 74_37 +1 known frame_shift_del c.3254 p.F1088fs 0.003 pfam_DNA_mismatch_repair_MutS_C,superfamily_P-loop_NTPase,smart_DNA_mismatch_repair_MutS_core,pirsf_DNA_mismatch_repair_Msh6 pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_core,pfam_PWWP_dom,pfam_DNA_mismatch_repair_MutS_clamp,pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_PWWP_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C,pirsf_DNA_mismatch_repair_Msh6,pfscan_PWWP_dom - no_errors MSH6 HGNC ENSG00000116062 129 0 0 89 35 28.2258 MTIF2 0 genome.wustl.edu 37 2 55481808 55481808 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 55481808 55481808 T - DEL MTIF2 ENST00000263629 human ensembl 74_37 -1 known frame_shift_del c.485 p.N162fs 1.000 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 233 0 0 178 49 21.5859 CCDC88A 0 genome.wustl.edu 37 2 55570930 55570930 + Splice_Site DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 55570930 55570930 T - DEL CCDC88A ENST00000436346 human ensembl 74_37 -1 known splice_site_del c.1189-2 e12-2 1.000 - - - no_errors CCDC88A HGNC ENSG00000115355 59 0 0 40 9 18.3673 AUP1 0 genome.wustl.edu 37 2 74754443 74754443 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 74754443 74754443 C - DEL AUP1 ENST00000377526 human ensembl 74_37 -1 known frame_shift_del c.1009 p.A337fs 0.986 smart_CUE,pfscan_CUE pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 75 0 0 33 14 29.7872 AUP1 0 genome.wustl.edu 37 2 74755602 74755603 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 74755602 74755603 - A INS AUP1 ENST00000377526 human ensembl 74_37 -1 known frame_shift_ins c.539_538 p.S180fs 1.000:1.000 NULL pfam_CUE,smart_CUE,pfscan_CUE - no_errors AUP1 HGNC ENSG00000115307 92 0 0 71 7 8.97436 LRRTM1 0 genome.wustl.edu 37 2 80529785 80529785 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 80529785 80529785 G - DEL LRRTM1 ENST00000295057 human ensembl 74_37 -1 known frame_shift_del c.1160 p.P387fs 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 66 0 0 39 6 13.3333 GGCX 0 genome.wustl.edu 37 2 85780733 85780733 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 85780733 85780733 T - DEL GGCX ENST00000482662 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors GGCX HGNC ENSG00000115486 36 0 0 18 8 30.7692 RNF103 0 genome.wustl.edu 37 2 86831015 86831015 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 86831015 86831015 T - DEL RNF103 ENST00000237455 human ensembl 74_37 -1 known frame_shift_del c.2009 p.K670fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_Thioredoxin-like_fold,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF103 HGNC ENSG00000239305 236 1 0.421941 126 24 16 FAHD2A 0 genome.wustl.edu 37 2 96078466 96078466 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 96078466 96078466 C - DEL FAHD2A ENST00000233379 human ensembl 74_37 +1 known frame_shift_del c.836 p.P281fs 0.997 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2A HGNC ENSG00000115042 55 0 0 33 7 17.5 NCAPH 0 genome.wustl.edu 37 2 97024802 97024802 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 97024802 97024802 G - DEL NCAPH ENST00000240423 human ensembl 74_37 +1 known frame_shift_del c.1228 p.D411fs 1.000 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 pfam_Condensin_barren_su2,pirsf_Condensin_barren_su2 - no_errors NCAPH HGNC ENSG00000121152 176 0 0 84 36 30 TMEM131 0 genome.wustl.edu 37 2 98427639 98427639 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 2 98427639 98427639 T - DEL TMEM131 ENST00000186436 human ensembl 74_37 -1 known frame_shift_del c.1920 p.K640fs 0.983 pfam_DUF3651_TMEM131 pfam_DUF3651_TMEM131 - no_errors TMEM131 HGNC ENSG00000075568 615 1 0.162338 370 110 22.9167 LIPT1 0 genome.wustl.edu 37 2 99778781 99778781 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 152 0 0 71 17 19.3182 ESF1 0 genome.wustl.edu 37 20 13698067 13698067 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 13698067 13698067 T - DEL ESF1 ENST00000202816 human ensembl 74_37 -1 known frame_shift_del c.2210 p.K737fs 1.000 NULL pfam_NUC153 - no_errors ESF1 HGNC ENSG00000089048 260 1 0.383142 126 51 28.8136 NDUFAF5 0 genome.wustl.edu 37 20 13789596 13789596 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 13789596 13789596 A - DEL NDUFAF5 ENST00000464269 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NDUFAF5 HGNC ENSG00000101247 68 0 0 42 10 19.2308 DSTN 0 genome.wustl.edu 37 20 17581679 17581680 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 17581679 17581680 - T INS DSTN ENST00000246069 human ensembl 74_37 +1 known frame_shift_ins c.300_301 p.L102fs 1.000:1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,prints_ADF/Cofilin/Destrin - no_errors DSTN HGNC ENSG00000125868 166 0 0 88 17 16.1905 RBBP9 0 genome.wustl.edu 37 20 18476496 18476496 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 18476496 18476496 T - DEL RBBP9 ENST00000337227 human ensembl 74_37 -1 known frame_shift_del c.128 p.N43fs 1.000 pfam_DUF1234_Hydrolase pfam_DUF1234_Hydrolase - no_errors RBBP9 HGNC ENSG00000089050 130 0 0 59 20 25.3165 CD93 0 genome.wustl.edu 37 20 23066469 23066469 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 23066469 23066469 C - DEL CD93 ENST00000246006 human ensembl 74_37 -1 known frame_shift_del c.361 p.E121fs 0.689 pirsf_CD93/CD141,pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 26 0 0 19 12 38.7097 HM13 0 genome.wustl.edu 37 20 30142485 30142488 + RNA DEL AAAA AAAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 30142485 30142488 AAAA - DEL HM13 ENST00000474466 human ensembl 74_37 +1 known rna NULL NULL 0.172:0.159:0.155:0.142 - - - no_errors HM13 HGNC ENSG00000101294 49 0 0 17 11 39.2857 MIR644A 0 genome.wustl.edu 37 20 33054130 33054130 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 33054130 33054130 T - DEL MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors MIR644A HGNC ENSG00000207997 41 0 0 21 13 38.2353 ZHX3 0 genome.wustl.edu 37 20 39832962 39832962 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 39832962 39832962 T - DEL ZHX3 ENST00000309060 human ensembl 74_37 -1 known frame_shift_del c.595 p.I199fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors ZHX3 HGNC ENSG00000174306 215 0 0 109 35 24.3056 SMOX 0 genome.wustl.edu 37 20 4163027 4163028 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 4163027 4163028 - G INS SMOX ENST00000305958 human ensembl 74_37 +1 known frame_shift_ins c.901_902 p.R304fs 0.105:0.064 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom - no_errors SMOX HGNC ENSG00000088826 70 0 0 35 21 37.5 KCNK15 0 genome.wustl.edu 37 20 43379277 43379278 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 43379277 43379278 - C INS KCNK15 ENST00000372861 human ensembl 74_37 +1 known frame_shift_ins c.791_792 p.G268fs 0.004:0.417 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl - no_errors KCNK15 HGNC ENSG00000124249 38 0 0 27 2 6.89655 DNTTIP1 0 genome.wustl.edu 37 20 44433957 44433957 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 44433957 44433957 G - DEL DNTTIP1 ENST00000372622 human ensembl 74_37 +1 known frame_shift_del c.675 p.G227fs 1.000 NULL NULL - no_errors DNTTIP1 HGNC ENSG00000101457 185 0 0 88 22 20 PCIF1 0 genome.wustl.edu 37 20 44576407 44576409 + RNA DEL GGA GGA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GGA GGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 44576407 44576409 GGA - DEL PCIF1 ENST00000479348 human ensembl 74_37 +1 known rna NULL NULL 0.951:0.947:0.952 - - - no_errors PCIF1 HGNC ENSG00000100982 64 0 0 37 4 9.7561 MIR296 0 genome.wustl.edu 37 20 57392726 57392726 + RNA DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 57392726 57392726 G - DEL MIR296 ENST00000385215 human ensembl 74_37 -1 known rna NULL NULL 0.994 - - - no_errors MIR296 HGNC ENSG00000268649 76 0 0 43 15 25.8621 ZNF831 0 genome.wustl.edu 37 20 57766220 57766220 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 57766220 57766220 C - DEL ZNF831 ENST00000371030 human ensembl 74_37 +1 novel frame_shift_del c.146 p.T52fs 0.643 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 80 0 0 49 11 18.3333 SYCP2 0 genome.wustl.edu 37 20 58467046 58467047 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 58467046 58467047 - T INS SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_ins c.2363_2362 p.M788fs 0.102:0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 98 0 0 44 15 25.4237 CDH26 0 genome.wustl.edu 37 20 58587784 58587784 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 58587784 58587784 A - DEL CDH26 ENST00000348616 human ensembl 74_37 +1 known frame_shift_del c.2498 p.*833fs 0.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 100 0 0 38 32 45.7143 DIDO1 0 genome.wustl.edu 37 20 61512074 61512074 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 20 61512074 61512074 C - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.5234 p.G1745fs 0.000 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 244 0 0 160 41 20.398 SCAF4 0 genome.wustl.edu 37 21 33073336 33073336 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 33073336 33073336 G - DEL SCAF4 ENST00000286835 human ensembl 74_37 -1 known frame_shift_del c.749 p.P250fs 0.926 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 159 0 0 89 26 22.6087 CLIC6 0 genome.wustl.edu 37 21 36081075 36081076 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 36081075 36081076 - A INS CLIC6 ENST00000360731 human ensembl 74_37 +1 known frame_shift_ins c.1742_1743 p.N583fs 0.999:0.438 superfamily_Glutathione-S-Trfase_C-like,prints_Int_Cl_channel,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC6 HGNC ENSG00000159212 94 0 0 62 21 25.3012 DOPEY2 0 genome.wustl.edu 37 21 37650357 37650358 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 37650357 37650358 - T INS DOPEY2 ENST00000399151 human ensembl 74_37 +1 known frame_shift_ins c.5797_5798 p.P1935fs 0.998:0.996 NULL pfam_Dopey_N - no_errors DOPEY2 HGNC ENSG00000142197 216 0 0 123 41 25 TTC3 0 genome.wustl.edu 37 21 38524243 38524243 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 21 38524243 38524243 A - DEL TTC3 ENST00000354749 human ensembl 74_37 +1 known frame_shift_del c.2327 p.E779fs 1.000 NULL pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like_dom,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 101 0 0 52 24 31.5789 DERL3 0 genome.wustl.edu 37 22 24180552 24180552 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 24180552 24180552 C - DEL DERL3 ENST00000318109 human ensembl 74_37 -1 known frame_shift_del c.314 p.G105fs 1.000 pfam_DER1 pfam_DER1 - no_errors DERL3 HGNC ENSG00000099958 41 0 0 12 6 33.3333 MN1 0 genome.wustl.edu 37 22 28196286 28196286 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 28196286 28196286 C - DEL MN1 ENST00000302326 human ensembl 74_37 -1 known frame_shift_del c.246 p.L83fs 0.997 NULL NULL - no_errors MN1 HGNC ENSG00000169184 81 0 0 47 7 12.963 TRIOBP 0 genome.wustl.edu 37 22 38121772 38121772 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 38121772 38121772 C - DEL TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_del c.3209 p.R1072fs 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 174 0 0 108 22 16.9231 CSNK1E 0 genome.wustl.edu 37 22 38699188 38699188 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 38699188 38699188 G - DEL CSNK1E ENST00000359867 human ensembl 74_37 -1 known frame_shift_del c.142 p.Q48fs 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 CSNK1E HGNC ENSG00000213923 31 0 0 15 8 34.7826 DDX17 0 genome.wustl.edu 37 22 38897211 38897211 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 111 0 0 84 10 10.6383 CSDC2 0 genome.wustl.edu 37 22 41970850 41970850 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 41970850 41970850 C - DEL CSDC2 ENST00000306149 human ensembl 74_37 +1 known frame_shift_del c.413 p.H140fs 1.000 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CSDC2 HGNC ENSG00000172346 28 0 0 33 3 8.33333 EFCAB6-AS1 0 genome.wustl.edu 37 22 43930759 43930759 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 43930759 43930759 A - DEL EFCAB6-AS1 ENST00000431327 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors EFCAB6-AS1 HGNC ENSG00000223843 188 0 0 118 37 23.871 SAMM50 0 genome.wustl.edu 37 22 44392209 44392209 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 44392209 44392209 T - DEL SAMM50 ENST00000493621 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SAMM50 HGNC ENSG00000100347 1057 0 0 713 97 11.9753 MIR1249 0 genome.wustl.edu 37 22 45596846 45596846 + RNA DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 45596846 45596846 G - DEL MIR1249 ENST00000408671 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MIR1249 HGNC ENSG00000221598 21 0 0 10 4 28.5714 KIAA0930 0 genome.wustl.edu 37 22 45607914 45607914 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 45607914 45607914 G - DEL KIAA0930 ENST00000251993 human ensembl 74_37 -1 known frame_shift_del c.154 p.R52fs 0.989 pfam_DUF2045 pfam_DUF2045 - no_errors KIAA0930 HGNC ENSG00000100364 123 0 0 74 11 12.9412 MAPK8IP2 0 genome.wustl.edu 37 22 51044095 51044095 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 22 51044095 51044095 G - DEL MAPK8IP2 ENST00000329492 human ensembl 74_37 +1 known frame_shift_del c.1944 p.E650fs 0.085 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain 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 36 0 0 23 5 17.8571 ZBTB11 0 genome.wustl.edu 37 3 101370324 101370325 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 101370324 101370325 - T INS ZBTB11 ENST00000312938 human ensembl 74_37 -1 known frame_shift_ins c.2848_2847 p.D949fs 1.000:1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB11 HGNC ENSG00000066422 285 1 0.34965 157 56 26.2911 TATDN2 0 genome.wustl.edu 37 3 10291121 10291123 + In_Frame_Del DEL CTC CTC - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 10291121 10291123 CTC - DEL TATDN2 ENST00000287652 human ensembl 74_37 +1 known in_frame_del c.237_239 p.S83in_frame_del 0.706:0.669:0.673 NULL pfam_TatD_family - no_errors TATDN2 HGNC ENSG00000157014 424 1 0.235294 219 62 22.0641 MORC1 0 genome.wustl.edu 37 3 108682419 108682419 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 108682419 108682419 T - DEL MORC1 ENST00000232603 human ensembl 74_37 -1 known frame_shift_del c.2641 p.I881fs 0.062 NULL pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 127 0 0 75 21 21.875 ZBTB20 0 genome.wustl.edu 37 3 114058003 114058003 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 114058003 114058003 G - DEL ZBTB20 ENST00000474710 human ensembl 74_37 -1 known frame_shift_del c.2075 p.P692fs 0.678 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 ZBTB20 HGNC ENSG00000181722 168 0 0 68 22 24.4444 POLQ 0 genome.wustl.edu 37 3 121208704 121208704 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 121208704 121208704 T - DEL POLQ ENST00000264233 human ensembl 74_37 -1 known frame_shift_del c.3074 p.K1025fs 0.383 NULL pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 244 0 0 153 48 23.8806 SEMA5B 0 genome.wustl.edu 37 3 122629052 122629052 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 122629052 122629052 G - DEL SEMA5B ENST00000451055 human ensembl 74_37 -1 known frame_shift_del c.3556 p.L1186fs 0.996 NULL 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 SEMA5B HGNC ENSG00000082684 128 0 0 87 19 17.9245 PIK3R4 0 genome.wustl.edu 37 3 130454824 130454824 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 130454824 130454824 A - DEL PIK3R4 ENST00000356763 human ensembl 74_37 -1 known frame_shift_del c.756 p.F252fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_WD40_repeat,pfam_HEAT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_WD40_repeat,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors PIK3R4 HGNC ENSG00000196455 210 0 0 89 32 26.4463 ASTE1 0 genome.wustl.edu 37 3 130743303 130743303 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 130743303 130743303 T - DEL ASTE1 ENST00000264992 human ensembl 74_37 -1 known frame_shift_del c.848 p.K283fs 0.177 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 200 0 0 98 37 27.4074 TOPBP1 0 genome.wustl.edu 37 3 133335731 133335731 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 133335731 133335731 T - DEL TOPBP1 ENST00000260810 human ensembl 74_37 -1 known frame_shift_del c.3798 p.K1266fs 1.000 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 16 0 0 6 5 45.4545 STAG1 0 genome.wustl.edu 37 3 136088059 136088060 + Frame_Shift_Del DEL CT CT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 136088059 136088060 CT - DEL STAG1 ENST00000383202 human ensembl 74_37 -1 known frame_shift_del c.2436_2435 p.E812fs 1.000:1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 139 0 0 72 20 21.7391 CNTN6 0 genome.wustl.edu 37 3 1371501 1371501 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 1371501 1371501 A - DEL CNTN6 ENST00000350110 human ensembl 74_37 +1 known frame_shift_del c.1246 p.K418fs 0.992 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN6 HGNC ENSG00000134115 137 0 0 59 18 23.3766 XRN1 0 genome.wustl.edu 37 3 142142409 142142409 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 142142409 142142409 T - DEL XRN1 ENST00000264951 human ensembl 74_37 -1 known frame_shift_del c.703 p.T235fs 0.869 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 45 0 0 32 13 28.8889 SMC4 0 genome.wustl.edu 37 3 160143940 160143940 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 160143940 160143940 A - DEL SMC4 ENST00000344722 human ensembl 74_37 +1 known frame_shift_del c.2557 p.K855fs 0.998 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase,superfamily_Chemotax_Me-accpt_rcpt_lig-bd pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge - no_errors SMC4 HGNC ENSG00000113810 306 0 0 195 63 24.4186 WDR49 0 genome.wustl.edu 37 3 167217955 167217955 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 167217955 167217955 G - DEL WDR49 ENST00000308378 human ensembl 74_37 -1 known frame_shift_del c.1961 p.P654fs 0.018 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 WDR49 HGNC ENSG00000174776 402 0 0 229 73 24.1722 LRRIQ4 0 genome.wustl.edu 37 3 169540249 169540249 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 169540249 169540249 C - DEL LRRIQ4 ENST00000340806 human ensembl 74_37 +1 known frame_shift_del c.540 p.Q182fs 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ4 HGNC ENSG00000188306 171 0 0 97 34 25.9542 TBL1XR1 0 genome.wustl.edu 37 3 176769342 176769342 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 176769342 176769342 T - DEL TBL1XR1 ENST00000430069 human ensembl 74_37 -1 known frame_shift_del c.377 p.N126fs 1.000 NULL pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL1XR1 HGNC ENSG00000177565 203 0 0 140 40 22.2222 CCDC39 0 genome.wustl.edu 37 3 180377245 180377246 + Frame_Shift_Del DEL CA CA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 180377245 180377246 CA - DEL CCDC39 ENST00000442201 human ensembl 74_37 -1 known frame_shift_del c.733_732 p.A245fs 1.000:1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 94 0 0 45 18 28.5714 HRG 0 genome.wustl.edu 37 3 186395646 186395646 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 186395646 186395646 T - DEL HRG ENST00000232003 human ensembl 74_37 +1 known frame_shift_del c.1552 p.F519fs 0.979 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors HRG HGNC ENSG00000113905 202 0 0 111 35 23.9726 PPP1R2 0 genome.wustl.edu 37 3 195245976 195245976 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 195245976 195245976 T - DEL PPP1R2 ENST00000328432 human ensembl 74_37 -1 known frame_shift_del c.410 p.K137fs 1.000 pfam_PPI-2 pfam_PPI-2 - no_errors PPP1R2 HGNC ENSG00000184203 124 0 0 71 29 29 SGOL1 0 genome.wustl.edu 37 3 20216050 20216050 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 20216050 20216050 T - DEL SGOL1 ENST00000263753 human ensembl 74_37 -1 known frame_shift_del c.973 p.M325fs 0.000 NULL pfam_Shugoshin_N,pfam_Shugoshin_C - no_errors SGOL1 HGNC ENSG00000129810 93 0 0 38 13 25.4902 EPM2AIP1 0 genome.wustl.edu 37 3 37034280 37034281 + Frame_Shift_Del DEL CT CT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 37034280 37034281 CT - DEL EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known frame_shift_del c.289_288 p.R96fs 0.020:0.014 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 168 0 0 113 9 7.37705 VILL 0 genome.wustl.edu 37 3 38039624 38039625 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 38039624 38039625 - C INS VILL ENST00000283713 human ensembl 74_37 +1 known frame_shift_ins c.808_809 p.L273fs 0.589:0.638 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 43 0 0 27 11 28.9474 SCN10A 0 genome.wustl.edu 37 3 38750970 38750970 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 38750970 38750970 T - DEL SCN10A ENST00000449082 human ensembl 74_37 -1 known frame_shift_del c.4280 p.K1427fs 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 174 0 0 108 32 22.8571 SCN11A 0 genome.wustl.edu 37 3 38949441 38949441 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 38949441 38949441 T - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known frame_shift_del c.1472 p.K491fs 0.352 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 140 0 0 80 27 25.2336 NKTR 0 genome.wustl.edu 37 3 42679036 42679036 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 42679036 42679036 C - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.1840 p.P616fs 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 NKTR HGNC ENSG00000114857 432 1 0.230947 231 70 23.2558 COL7A1 0 genome.wustl.edu 37 3 48612871 48612871 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 48612871 48612871 G - DEL COL7A1 ENST00000328333 human ensembl 74_37 -1 known frame_shift_del c.6081 p.P2029fs 0.981 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 61 0 0 25 9 26.4706 AMT 0 genome.wustl.edu 37 3 49457336 49457336 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 49457336 49457336 A - DEL AMT ENST00000480957 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors AMT HGNC ENSG00000145020 38 0 0 22 3 12 DOCK3 0 genome.wustl.edu 37 3 51417604 51417604 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 132 0 0 50 29 36.7089 STAB1 0 genome.wustl.edu 37 3 52547907 52547908 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 52547907 52547908 - C INS STAB1 ENST00000321725 human ensembl 74_37 +1 known frame_shift_ins c.3357_3358 p.R1121fs 0.951:0.999 superfamily_FAS1_domain,smart_FAS1_domain 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 549 1 0.181818 341 75 18.0288 IL17RB 0 genome.wustl.edu 37 3 53889347 53889347 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 53889347 53889347 A - DEL IL17RB ENST00000288167 human ensembl 74_37 +1 known frame_shift_del c.508 p.K172fs 0.036 NULL pfam_SEFIR - no_errors IL17RB HGNC ENSG00000056736 19 0 0 16 5 23.8095 DNAH12 0 genome.wustl.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 57509313 57509313 T - DEL DNAH12 ENST00000351747 human ensembl 74_37 -1 known frame_shift_del c.276 p.G93fs 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH12 HGNC ENSG00000174844 31 0 0 14 4 22.2222 ENSG00000244513 0 genome.wustl.edu 37 3 69105268 69105268 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 69105268 69105268 T - DEL ENSG00000244513 ENST00000595925 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-2013N24.2 Clone_based_vega_gene ENSG00000244513 90 0 0 41 13 24.0741 EBLN2 0 genome.wustl.edu 37 3 73111542 73111542 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 73111542 73111542 A - DEL EBLN2 ENST00000533473 human ensembl 74_37 +1 known frame_shift_del c.310 p.A106fs 0.001 pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir - no_errors EBLN2 HGNC ENSG00000255423 31 0 0 15 2 11.7647 OR5H1 0 genome.wustl.edu 37 3 97852456 97852456 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 97852456 97852456 A - DEL OR5H1 ENST00000354565 human ensembl 74_37 +1 known frame_shift_del c.915 p.K307fs 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H1 HGNC ENSG00000231192 105 0 0 49 19 27.9412 TADA3 0 genome.wustl.edu 37 3 9831567 9831567 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 3 9831567 9831567 G - DEL TADA3 ENST00000301964 human ensembl 74_37 -1 known frame_shift_del c.288 p.K97fs 0.002 NULL pfam_Histone_AcTrfase_su3 - no_errors TADA3 HGNC ENSG00000171148 188 0 0 96 32 25 RRH 0 genome.wustl.edu 37 4 110756541 110756541 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 110756541 110756541 T - DEL RRH ENST00000317735 human ensembl 74_37 +1 known frame_shift_del c.317 p.F108fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn - no_errors RRH HGNC ENSG00000180245 177 0 0 77 35 31.25 ENPEP 0 genome.wustl.edu 37 4 111482570 111482571 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 111482570 111482571 - T INS ENPEP ENST00000265162 human ensembl 74_37 +1 known frame_shift_ins c.2730_2731 p.A912fs 0.996:1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors ENPEP HGNC ENSG00000138792 57 0 0 34 10 22.7273 LARP7 0 genome.wustl.edu 37 4 113578483 113578483 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 26 0 0 11 4 26.6667 KIAA1109 0 genome.wustl.edu 37 4 123140723 123140726 + Splice_Site DEL GTAA GTAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 123140723 123140726 GTAA - DEL KIAA1109 ENST00000264501 human ensembl 74_37 +1 known splice_site_del c.2475+1_2475+1 e19+1 1.000:1.000:1.000:1.000 - - - no_errors KIAA1109 HGNC ENSG00000138688 179 0 0 108 6 5.26316 RNF150 0 genome.wustl.edu 37 4 141832328 141832328 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 141832328 141832328 G - DEL RNF150 ENST00000515673 human ensembl 74_37 -1 known frame_shift_del c.1168 p.Q390fs 0.996 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF150 HGNC ENSG00000170153 198 0 0 107 21 16.4062 PPID 0 genome.wustl.edu 37 4 159636518 159636518 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 159636518 159636518 T - DEL PPID ENST00000307720 human ensembl 74_37 -1 known frame_shift_del c.683 p.N228fs 1.000 smart_TPR_repeat pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPID HGNC ENSG00000171497 11 0 0 2 6 75 FNIP2 0 genome.wustl.edu 37 4 159789659 159789660 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 159789659 159789660 - G INS FNIP2 ENST00000379346 human ensembl 74_37 +1 known frame_shift_ins c.1940_1941 p.S649fs 0.012:0.003 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 42 0 0 22 5 18.5185 PROM1 0 genome.wustl.edu 37 4 15995680 15995680 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 214 1 0.465116 120 43 26.3804 RAPGEF2 0 genome.wustl.edu 37 4 160271311 160271311 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 160271311 160271311 A - DEL RAPGEF2 ENST00000264431 human ensembl 74_37 +1 known frame_shift_del c.3252 p.I1087fs 1.000 NULL pfam_RasGRF_CDC25,pfam_Ras-assoc,pfam_Ras-like_Gua-exchang_fac_N,pfam_PDZ,pfam_cNMP-bd_dom,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF2 HGNC ENSG00000109756 92 0 0 51 13 20.3125 NCAPG 0 genome.wustl.edu 37 4 17844998 17844999 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 17844998 17844999 - A INS NCAPG ENST00000251496 human ensembl 74_37 +1 known frame_shift_ins c.2998_2999 p.S1002fs 0.989:0.990 NULL superfamily_ARM-type_fold - no_errors NCAPG HGNC ENSG00000109805 195 0 0 121 35 22.4359 SLIT2 0 genome.wustl.edu 37 4 20469438 20469438 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 20469438 20469438 A - DEL SLIT2 ENST00000504154 human ensembl 74_37 +1 known frame_shift_del c.459 p.N155fs 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 58 0 0 34 10 22.7273 RBPJ 0 genome.wustl.edu 37 4 26417146 26417146 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 26417146 26417146 A - DEL RBPJ ENST00000342295 human ensembl 74_37 +1 known frame_shift_del c.244 p.E85fs 1.000 pfam_LAG1_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_Beta-trefoil_DNA-bd_dom,pfam_LAG1_DNA-bd,pfam_IPT,superfamily_Beta-trefoil_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set - no_errors RBPJ HGNC ENSG00000168214 268 1 0.371747 156 48 23.5294 FAM193A 0 genome.wustl.edu 37 4 2695394 2695394 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 2695394 2695394 C - DEL FAM193A ENST00000324666 human ensembl 74_37 +1 known frame_shift_del c.2012 p.L673fs 0.593 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 392 0 0 238 48 16.7832 SH3BP2 0 genome.wustl.edu 37 4 2831652 2831652 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 2831652 2831652 C - DEL SH3BP2 ENST00000503393 human ensembl 74_37 +1 known frame_shift_del c.1190 p.R399fs 0.989 NULL pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2 - no_errors SH3BP2 HGNC ENSG00000087266 203 0 0 111 30 21.2766 GRK4 0 genome.wustl.edu 37 4 3015470 3015470 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 3015470 3015470 A - DEL GRK4 ENST00000398052 human ensembl 74_37 +1 known frame_shift_del c.656 p.R222fs 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_RGS_dom,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors GRK4 HGNC ENSG00000125388 389 0 0 254 45 15.0502 KLF3 0 genome.wustl.edu 37 4 38690460 38690460 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 38690460 38690460 A - DEL KLF3 ENST00000261438 human ensembl 74_37 +1 known frame_shift_del c.312 p.K106fs 0.008 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 158 0 0 117 23 16.4286 TLR1 0 genome.wustl.edu 37 4 38798148 38798148 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 38798148 38798148 A - DEL TLR1 ENST00000308979 human ensembl 74_37 -1 known frame_shift_del c.2305 p.W769fs 1.000 pirsf_Toll-like_receptor,pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 120 0 0 65 18 21.6867 GUF1 0 genome.wustl.edu 37 4 44700615 44700615 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 44700615 44700615 A - DEL GUF1 ENST00000281543 human ensembl 74_37 +1 known frame_shift_del c.1927 p.K645fs 0.999 pfam_LepA_GTP-bd_C,tigrfam_EF-4 pfam_EF_GTP-bd_dom,pfam_LepA_GTP-bd_C,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,pfam_Small_GTPase,superfamily_P-loop_NTPase,superfamily_EFG_III-V,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_EF-4,tigrfam_Small_GTP-bd_dom - no_errors GUF1 HGNC ENSG00000151806 138 0 0 67 31 31.6327 GNPDA2 0 genome.wustl.edu 37 4 44719257 44719257 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 44719257 44719257 A - DEL GNPDA2 ENST00000295448 human ensembl 74_37 -1 known frame_shift_del c.282 p.F94fs 1.000 pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase pfam_Glc/Gal-6P_isomerase,tigrfam_Glucosamine6P_isomerase - no_errors GNPDA2 HGNC ENSG00000163281 78 0 0 41 14 25.4545 CENPC 0 genome.wustl.edu 37 4 68384936 68384936 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 68384936 68384936 T - DEL CENPC ENST00000273853 human ensembl 74_37 -1 known frame_shift_del c.616 p.R206fs 1.000 NULL pfam_Mif2/CENP-C_cupin,pfam_Cupin_2,superfamily_RmlC_Cupin - no_errors CENPC HGNC ENSG00000145241 82 0 0 63 17 21.25 SULT1B1 0 genome.wustl.edu 37 4 70615468 70615470 + In_Frame_Del DEL GAA GAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 70615468 70615470 GAA - DEL SULT1B1 ENST00000310613 human ensembl 74_37 -1 known in_frame_del c.346_344 p.L115in_frame_del 0.959:0.944:0.964 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors SULT1B1 HGNC ENSG00000173597 199 0 0 130 48 26.9663 PPEF2 0 genome.wustl.edu 37 4 76793305 76793305 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 76793305 76793305 A - DEL PPEF2 ENST00000286719 human ensembl 74_37 -1 known frame_shift_del c.1522 p.S508fs 1.000 pirsf_Ser/Thr-Pase_EF-hand_contain,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pirsf_Ser/Thr-Pase_EF-hand_contain,pfam_PEstase_dom,pfam_PPP_dom,smart_Ser/Thr-sp_prot-phosphatase,smart_EF_hand_dom,prints_Ser/Thr-sp_prot-phosphatase,pfscan_EF_hand_dom - no_errors PPEF2 HGNC ENSG00000156194 114 0 0 78 28 26.4151 ANTXR2 0 genome.wustl.edu 37 4 80905990 80905990 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 80905990 80905990 C - DEL ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_del c.1069 p.A357fs 0.559 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 32 0 0 19 7 26.9231 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 83785565 83785565 T - DEL SEC31A ENST00000432794 human ensembl 74_37 -1 known frame_shift_del c.1384 p.I462fs 0.985 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31A HGNC ENSG00000138674 151 1 0.657895 110 35 24.1379 HERC5 0 genome.wustl.edu 37 4 89381266 89381266 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 4 89381266 89381266 A - DEL HERC5 ENST00000264350 human ensembl 74_37 +1 known frame_shift_del c.410 p.I140fs 1.000 superfamily_RCC1/BLIP-II,prints_Reg_chr_condens 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 53 0 0 30 9 23.0769 PPIP5K2 0 genome.wustl.edu 37 5 102537309 102537309 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 102537309 102537309 A - DEL PPIP5K2 ENST00000358359 human ensembl 74_37 +1 known frame_shift_del c.3706 p.N1238fs 0.999 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 30 0 0 25 8 24.2424 MAN2A1 0 genome.wustl.edu 37 5 109103387 109103388 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 109103387 109103388 - T INS MAN2A1 ENST00000261483 human ensembl 74_37 +1 known frame_shift_ins c.987_988 p.W331fs 1.000:1.000 pfam_Glyco_hydro_38_N,superfamily_Glyco_hydro/deAcase_b/a-brl pfam_Glyco_hydro_38_N,pfam_Glyco_hydro_38_C,pfam_Glyco_hydro_38_cen_dom,superfamily_Gal_mutarotase_SF_dom,superfamily_Glyco_hydro/deAcase_b/a-brl,smart_Glyco_hydro_38_cen_dom - no_errors MAN2A1 HGNC ENSG00000112893 277 1 0.359712 204 60 22.7273 EPB41L4A 0 genome.wustl.edu 37 5 111519758 111519758 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 111519758 111519758 T - DEL EPB41L4A ENST00000261486 human ensembl 74_37 -1 known frame_shift_del c.1577 p.N526fs 0.988 NULL pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 194 0 0 119 23 16.1972 PRRC1 0 genome.wustl.edu 37 5 126860489 126860489 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 126860489 126860489 C - DEL PRRC1 ENST00000512635 human ensembl 74_37 +1 known frame_shift_del c.370 p.P125fs 0.934 NULL pfam_NTPase/PRRC1 - no_errors PRRC1 HGNC ENSG00000164244 570 0 0 307 101 24.7549 CHSY3 0 genome.wustl.edu 37 5 129241153 129241153 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 129241153 129241153 C - DEL CHSY3 ENST00000305031 human ensembl 74_37 +1 known frame_shift_del c.631 p.N213fs 0.998 pfam_Fringe-like pfam_Chond_GalNAc,pfam_Fringe-like - no_errors CHSY3 HGNC ENSG00000198108 66 0 0 32 14 30.4348 PCDHA12 0 genome.wustl.edu 37 5 140255609 140255609 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 140255609 140255609 A - DEL PCDHA12 ENST00000398631 human ensembl 74_37 +1 known frame_shift_del c.552 p.D187fs 0.000 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 PCDHA12 HGNC ENSG00000251664 82 0 0 40 14 25.9259 TRIO 0 genome.wustl.edu 37 5 14487781 14487781 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 14487781 14487781 C - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.7044 p.V2351fs 1.000 superfamily_Capsid/spike_ssDNA_virus pfam_DH-domain,pfam_Prot_kinase_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors TRIO HGNC ENSG00000038382 25 0 0 20 6 23.0769 RBM27 0 genome.wustl.edu 37 5 145647320 145647320 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 145647320 145647320 A - DEL RBM27 ENST00000265271 human ensembl 74_37 +1 known frame_shift_del c.2440 p.K816fs 1.000 NULL pfam_PWI_dom,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 127 1 0.78125 74 35 32.1101 DPYSL3 0 genome.wustl.edu 37 5 146775201 146775201 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 146775201 146775201 G - DEL DPYSL3 ENST00000398514 human ensembl 74_37 -1 known frame_shift_del c.1545 p.A516fs 0.163 NULL pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYSL3 HGNC ENSG00000113657 104 0 0 49 20 28.9855 SPINK5 0 genome.wustl.edu 37 5 147499875 147499875 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 147499875 147499875 A - DEL SPINK5 ENST00000359874 human ensembl 74_37 +1 known frame_shift_del c.2459 p.K823fs 0.998 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK5 HGNC ENSG00000133710 33 0 0 10 5 33.3333 FBXO38 0 genome.wustl.edu 37 5 147818027 147818027 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 147818027 147818027 G - DEL FBXO38 ENST00000340253 human ensembl 74_37 +1 known frame_shift_del c.2990 p.R997fs 1.000 NULL superfamily_F-box_dom - no_errors FBXO38 HGNC ENSG00000145868 186 0 0 118 26 18.0556 FAT2 0 genome.wustl.edu 37 5 150886794 150886794 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 150886794 150886794 G - DEL FAT2 ENST00000261800 human ensembl 74_37 -1 known frame_shift_del c.12438 p.R4147fs 0.985 NULL 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 223 0 0 148 33 18.232 LARP1 0 genome.wustl.edu 37 5 154173390 154173391 + Frame_Shift_Del DEL CC CC - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CC CC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 154173390 154173391 CC - DEL LARP1 ENST00000336314 human ensembl 74_37 +1 known frame_shift_del c.668_669 p.P225fs 0.999:0.994 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,smart_DM15,pfscan_Lupus_La_RNA-bd - no_errors LARP1 HGNC ENSG00000155506 567 0 0 310 55 15.0685 GABRA6 0 genome.wustl.edu 37 5 161115971 161115971 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 161115971 161115971 T - DEL GABRA6 ENST00000274545 human ensembl 74_37 +1 known frame_shift_del c.242 p.F83fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Neur_channel,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa6_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA6 HGNC ENSG00000145863 260 0 0 162 54 25 WWC1 0 genome.wustl.edu 37 5 167850888 167850888 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 167850888 167850888 C - DEL WWC1 ENST00000265293 human ensembl 74_37 +1 known frame_shift_del c.1625 p.S544fs 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 151 0 0 72 36 33.3333 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 94 0 0 35 33 48.5294 BNIP1 0 genome.wustl.edu 37 5 172578611 172578611 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 172578611 172578611 T - DEL BNIP1 ENST00000231668 human ensembl 74_37 +1 known frame_shift_del c.220 p.F76fs 0.000 NULL pfam_Sec20 - no_errors BNIP1 HGNC ENSG00000113734 157 0 0 121 17 12.3188 CDHR2 0 genome.wustl.edu 37 5 176011640 176011640 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 176011640 176011640 G - DEL CDHR2 ENST00000261944 human ensembl 74_37 +1 known frame_shift_del c.2358 p.G788fs 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 274 0 0 136 37 21.3873 CDH10 0 genome.wustl.edu 37 5 24488219 24488219 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 24488219 24488219 T - DEL CDH10 ENST00000264463 human ensembl 74_37 -1 known frame_shift_del c.1920 p.E641fs 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 131 0 0 66 18 21.4286 PDZD2 0 genome.wustl.edu 37 5 31799656 31799657 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 31799656 31799657 - G INS PDZD2 ENST00000282493 human ensembl 74_37 +1 known frame_shift_ins c.301_302 p.K104fs 1.000:1.000 superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDZD2 HGNC ENSG00000133401 256 1 0.389105 149 29 16.2921 RICTOR 0 genome.wustl.edu 37 5 38954826 38954826 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 38954826 38954826 T - DEL RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RICTOR HGNC ENSG00000164327 42 0 0 12 13 52 KIAA0947 0 genome.wustl.edu 37 5 5461230 5461231 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 5461230 5461231 - A INS KIAA0947 ENST00000296564 human ensembl 74_37 +1 known frame_shift_ins c.1783_1784 p.E597fs 0.067:0.020 NULL superfamily_Vitellinogen_superhlx - no_errors KIAA0947 HGNC ENSG00000164151 242 0 0 128 44 25.5814 SMIM15 0 genome.wustl.edu 37 5 60455819 60455819 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 60455819 60455819 T - DEL SMIM15 ENST00000339020 human ensembl 74_37 -1 known frame_shift_del c.180 p.K60fs 1.000 NULL NULL - no_errors SMIM15 HGNC ENSG00000188725 249 0 0 145 56 27.8607 IPO11 0 genome.wustl.edu 37 5 61847115 61847115 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 61847115 61847115 T - DEL IPO11 ENST00000409296 human ensembl 74_37 +1 known frame_shift_del c.2532 p.S847fs 0.988 superfamily_ARM-type_fold pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO11 HGNC ENSG00000086200 258 0 0 151 46 23.3503 WDR41 0 genome.wustl.edu 37 5 76728856 76728856 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 76728856 76728856 A - DEL WDR41 ENST00000512033 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors WDR41 HGNC ENSG00000164253 51 0 0 22 11 33.3333 AP3B1 0 genome.wustl.edu 37 5 77334907 77334907 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 77334907 77334907 T - DEL AP3B1 ENST00000255194 human ensembl 74_37 -1 known frame_shift_del c.2769 p.K923fs 0.419 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_beta - no_errors AP3B1 HGNC ENSG00000132842 116 1 0.854701 66 25 27.4725 BRD9 0 genome.wustl.edu 37 5 889777 889777 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 889777 889777 A - DEL BRD9 ENST00000323510 human ensembl 74_37 -1 known frame_shift_del c.38 p.F13fs 0.002 NULL pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD9 HGNC ENSG00000028310 197 0 0 116 24 17.1429 ARRDC3 0 genome.wustl.edu 37 5 90678675 90678677 + In_Frame_Del DEL CTT CTT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 5 90678675 90678677 CTT - DEL ARRDC3 ENST00000265138 human ensembl 74_37 -1 known in_frame_del c.235_233 p.E78in_frame_del 1.000:1.000:1.000 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC3 HGNC ENSG00000113369 274 0 0 147 46 23.8342 MCHR2 0 genome.wustl.edu 37 6 100382358 100382358 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 100382358 100382358 A - DEL MCHR2 ENST00000281806 human ensembl 74_37 -1 known frame_shift_del c.623 p.F208fs 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_MCH2_receptor,prints_GPCR_Rhodpsn,prints_MCH_rcpt - no_errors MCHR2 HGNC ENSG00000152034 106 0 0 54 16 22.8571 ASCC3 0 genome.wustl.edu 37 6 101296336 101296336 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 101296336 101296336 A - DEL ASCC3 ENST00000369162 human ensembl 74_37 -1 known frame_shift_del c.489 p.F163fs 1.000 NULL pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 128 0 0 59 20 25.3165 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 114 1 0.869565 50 37 42.5287 RNF146 0 genome.wustl.edu 37 6 127608767 127608767 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 127608767 127608767 G - DEL RNF146 ENST00000368314 human ensembl 74_37 +1 known frame_shift_del c.1009 p.G338fs 1.000 NULL pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING - no_errors RNF146 HGNC ENSG00000118518 181 0 0 127 7 5.22388 ARG1 0 genome.wustl.edu 37 6 131894346 131894346 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 131894346 131894346 A - DEL ARG1 ENST00000469293 human ensembl 74_37 +1 known rna NULL NULL 0.285 - - - no_errors ARG1 HGNC ENSG00000118520 37 0 0 16 14 46.6667 PBOV1 0 genome.wustl.edu 37 6 138539364 138539365 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 138539364 138539365 - T INS PBOV1 ENST00000527246 human ensembl 74_37 -1 known frame_shift_ins c.169_168 p.E56fs 0.003:0.061 NULL NULL - no_errors PBOV1 HGNC ENSG00000254440 109 0 0 57 18 24 GRM1 0 genome.wustl.edu 37 6 146755183 146755183 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 146755183 146755183 T - DEL GRM1 ENST00000282753 human ensembl 74_37 +1 known frame_shift_del c.2836 p.S947fs 1.000 prints_GPCR_3_mtglu_rcpt_1 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 316 0 0 164 57 25.7919 SYNE1 0 genome.wustl.edu 37 6 152673183 152673183 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 152673183 152673183 T - DEL SYNE1 ENST00000265368 human ensembl 74_37 -1 known frame_shift_del c.11559 p.A3854fs 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 183 0 0 94 39 29.3233 ENSG00000235381 0 genome.wustl.edu 37 6 155575539 155575539 + RNA DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 96 0 0 51 14 21.5385 SYNJ2 0 genome.wustl.edu 37 6 158497755 158497755 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 158497755 158497755 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.2390 p.A799fs 0.878 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc 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 85 0 0 55 8 12.6984 WTAP 0 genome.wustl.edu 37 6 160163106 160163106 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 160163106 160163106 T - DEL WTAP ENST00000462110 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors WTAP HGNC ENSG00000146457 90 0 0 67 20 22.9885 T 0 genome.wustl.edu 37 6 166571994 166571994 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 166571994 166571994 C - DEL T ENST00000296946 human ensembl 74_37 -1 known frame_shift_del c.1117 p.A373fs 0.438 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 69 0 0 43 4 8.51064 HLA-F 0 genome.wustl.edu 37 6 29694803 29694803 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 29694803 29694803 T - DEL HLA-F ENST00000259951 human ensembl 74_37 +1 known frame_shift_del c.1180 p.L396fs 1.000 NULL pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors HLA-F HGNC ENSG00000204642 552 0 0 202 122 37.6543 TRIM26 0 genome.wustl.edu 37 6 30157254 30157254 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 30157254 30157254 T - DEL TRIM26 ENST00000437089 human ensembl 74_37 -1 known frame_shift_del c.845 p.K282fs 0.012 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,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM26 HGNC ENSG00000234127 230 0 0 93 10 9.70874 GPSM3 0 genome.wustl.edu 37 6 32160025 32160026 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 32160025 32160026 - A INS GPSM3 ENST00000375040 human ensembl 74_37 -1 known frame_shift_ins c.45_44 p.Q18fs 0.079:0.120 NULL pfam_GoLoco_motif,smart_GoLoco_motif,pfscan_GoLoco_motif - no_errors GPSM3 HGNC ENSG00000213654 71 0 0 17 16 48.4848 TAP2 0 genome.wustl.edu 37 6 32805788 32805788 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 32805788 32805788 G - DEL TAP2 ENST00000374897 human ensembl 74_37 -1 known frame_shift_del c.223 p.L75fs 0.060 prints_ABC_B3,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 161 0 0 24 32 57.1429 TRERF1 0 genome.wustl.edu 37 6 42231112 42231112 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 42231112 42231112 G - DEL TRERF1 ENST00000541110 human ensembl 74_37 -1 known frame_shift_del c.1830 p.S611fs 0.834 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2 - no_errors TRERF1 HGNC ENSG00000124496 172 0 0 87 27 23.6842 ENPP4 0 genome.wustl.edu 37 6 46107942 46107942 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 46107942 46107942 A - DEL ENPP4 ENST00000321037 human ensembl 74_37 +1 known frame_shift_del c.622 p.I210fs 0.950 pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ENPP4 HGNC ENSG00000001561 243 0 0 110 41 27.1523 GPR115 0 genome.wustl.edu 37 6 47682443 47682443 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 47682443 47682443 T - DEL GPR115 ENST00000371220 human ensembl 74_37 +1 known frame_shift_del c.1633 p.F546fs 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_Ig-hepta_rcpt - no_errors GPR115 HGNC ENSG00000153294 611 0 0 404 123 23.3397 DST 0 genome.wustl.edu 37 6 56484643 56484643 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 56484643 56484643 T - DEL DST ENST00000370765 human ensembl 74_37 -1 known frame_shift_del c.4189 p.T1397fs 0.006 NULL pfam_Plectin_repeat,pfam_Spectrin_repeat,superfamily_Ig/albumin-bd,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DST HGNC ENSG00000151914 250 0 0 109 38 25.8503 SMAP1 0 genome.wustl.edu 37 6 71508370 71508370 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 71508370 71508370 A - DEL SMAP1 ENST00000370455 human ensembl 74_37 +1 known frame_shift_del c.506 p.K172fs 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP1 HGNC ENSG00000112305 13 0 0 3 6 66.6667 DSP 0 genome.wustl.edu 37 6 7580103 7580103 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 7580103 7580103 A - DEL DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_del c.3680 p.E1229fs 1.000 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 227 0 0 114 46 28.75 DSP 0 genome.wustl.edu 37 6 7580509 7580509 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 7580509 7580509 A - DEL DSP ENST00000379802 human ensembl 74_37 +1 known frame_shift_del c.4086 p.N1364fs 0.741 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors DSP HGNC ENSG00000096696 211 0 0 105 33 23.913 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 71 0 0 43 4 8.51064 BCKDHB 0 genome.wustl.edu 37 6 80881073 80881074 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 80881073 80881074 - T INS BCKDHB ENST00000320393 human ensembl 74_37 +1 known frame_shift_ins c.708_709 p.E238fs 1.000:1.000 pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors BCKDHB HGNC ENSG00000083123 60 0 0 36 6 14.2857 MDN1 0 genome.wustl.edu 37 6 90415853 90415853 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 153 0 0 76 17 18.2796 CASP8AP2 0 genome.wustl.edu 37 6 90576391 90576391 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 90576391 90576391 A - DEL CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 27 0 0 22 3 12 MAP3K7 0 genome.wustl.edu 37 6 91226169 91226170 + RNA INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 6 91226169 91226170 - A INS MAP3K7 ENST00000479630 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.947 - - - no_errors MAP3K7 HGNC ENSG00000135341 103 0 0 49 20 28.9855 MEPCE 0 genome.wustl.edu 37 7 100028068 100028068 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 100028068 100028068 G - DEL MEPCE ENST00000310512 human ensembl 74_37 +1 known frame_shift_del c.427 p.G145fs 0.496 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 31 0 0 12 8 40 PUS7 0 genome.wustl.edu 37 7 105122810 105122810 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 105122810 105122810 T - DEL PUS7 ENST00000356362 human ensembl 74_37 -1 known frame_shift_del c.998 p.N333fs 1.000 pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,tigrfam_PsdUridine_synth_TruD pfam_PsdUridine_synth_TruD,superfamily_PsdUridine_synth_cat_dom,pirsf_PsdUridine_synth_TruD_euk,pfscan_PsdUridine_synth_TruD_insert,tigrfam_PsdUridine_synth_TruD - no_errors PUS7 HGNC ENSG00000091127 466 0 0 264 94 26.257 PHF14 0 genome.wustl.edu 37 7 11022426 11022426 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 11022426 11022426 A - DEL PHF14 ENST00000403050 human ensembl 74_37 +1 known frame_shift_del c.540 p.K182fs 0.990 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF14 HGNC ENSG00000106443 85 0 0 62 15 19.4805 PPP1R3A 0 genome.wustl.edu 37 7 113518397 113518398 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 113518397 113518398 - A INS PPP1R3A ENST00000284601 human ensembl 74_37 -1 known frame_shift_ins c.2750_2749 p.S917fs 0.002:0.001 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 293 0 0 166 51 23.5023 SCIN 0 genome.wustl.edu 37 7 12664736 12664737 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 12664736 12664737 - G INS SCIN ENST00000297029 human ensembl 74_37 +1 known frame_shift_ins c.861_862 p.A288fs 0.986:0.997 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors SCIN HGNC ENSG00000006747 26 0 0 16 3 15.7895 ZNF800 0 genome.wustl.edu 37 7 127014068 127014068 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 127014068 127014068 T - DEL ZNF800 ENST00000265827 human ensembl 74_37 -1 known frame_shift_del c.1322 p.K441fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF800 HGNC ENSG00000048405 199 0 0 72 39 35.1351 ATP6V1F 0 genome.wustl.edu 37 7 128502969 128502969 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 128502969 128502969 G - DEL ATP6V1F ENST00000249289 human ensembl 74_37 +1 known frame_shift_del c.11 p.G5fs 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 44 0 0 30 4 11.7647 ATP6V0A4 0 genome.wustl.edu 37 7 138394461 138394461 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 138394461 138394461 A - DEL ATP6V0A4 ENST00000310018 human ensembl 74_37 -1 known frame_shift_del c.2337 p.F779fs 0.983 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A4 HGNC ENSG00000105929 403 0 0 213 40 15.8103 SSPO 0 genome.wustl.edu 37 7 149523542 149523543 + RNA INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 149523542 149523543 - C INS SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000:0.997 - - - no_errors SSPO HGNC ENSG00000197558 43 0 0 19 6 24 XRCC2 0 genome.wustl.edu 37 7 152345769 152345769 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 152345769 152345769 T - DEL XRCC2 ENST00000359321 human ensembl 74_37 -1 known frame_shift_del c.801 p.K267fs 0.957 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 151 0 0 77 32 29.3578 HOXA11 0 genome.wustl.edu 37 7 27222462 27222462 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 27222462 27222462 T - DEL HOXA11 ENST00000006015 human ensembl 74_37 -1 known frame_shift_del c.895 p.I299fs 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_DUF3528,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXA11 HGNC ENSG00000005073 253 1 0.393701 134 58 30.2083 TRIL 0 genome.wustl.edu 37 7 28996482 28996482 + RNA DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 28996482 28996482 G - DEL TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.426 - - - no_errors TRIL HGNC ENSG00000176734 91 0 0 44 8 15.3846 CARD11 0 genome.wustl.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 2968323 2968323 G - DEL CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_del c.1663 p.R555fs 0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 139 0 0 52 27 34.1772 C7orf25 0 genome.wustl.edu 37 7 42949523 42949524 + Frame_Shift_Del DEL CT CT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 42949523 42949524 CT - DEL C7orf25 ENST00000431882 human ensembl 74_37 -1 known frame_shift_del c.1151_1150 p.R384fs 1.000:1.000 pfam_DUF1308 pfam_DUF1308 - no_errors C7orf25 HGNC ENSG00000136197 201 0 0 70 37 34.5794 TNS3 0 genome.wustl.edu 37 7 47336680 47336681 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 47336680 47336681 - T INS TNS3 ENST00000311160 human ensembl 74_37 -1 known frame_shift_ins c.3676_3675 p.A1225fs 1.000:1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 266 0 0 127 39 23.494 FIGNL1 0 genome.wustl.edu 37 7 50514060 50514060 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 50514060 50514060 T - DEL FIGNL1 ENST00000356889 human ensembl 74_37 -1 known frame_shift_del c.926 p.K309fs 0.976 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGNL1 HGNC ENSG00000132436 163 0 0 80 17 17.5258 DTX2P1-UPK3BP1-PMS2P11 0 genome.wustl.edu 37 7 76610356 76610356 + RNA DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 76610356 76610356 C - DEL DTX2P1-UPK3BP1-PMS2P11 ENST00000584900 human ensembl 74_37 +1 known rna NULL NULL 0.847 - - - no_errors DTX2P1-UPK3BP1-PMS2P11 HGNC ENSG00000265479 257 0 0 133 69 34.1584 PCLO 0 genome.wustl.edu 37 7 82595551 82595551 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 82595551 82595551 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.3553 p.I1185fs 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 238 0 0 125 40 24.2424 RUNDC3B 0 genome.wustl.edu 37 7 87258157 87258157 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 87258157 87258157 G - DEL RUNDC3B ENST00000338056 human ensembl 74_37 +1 known frame_shift_del c.18 p.G8fs 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors RUNDC3B HGNC ENSG00000105784 15 0 0 6 5 45.4545 AKAP9 0 genome.wustl.edu 37 7 91671392 91671393 + Frame_Shift_Del DEL AG AG - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 91671392 91671393 AG - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.4986_4987 p.R1666fs 1.000:1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 134 0 0 72 16 18.1818 TRIM4 0 genome.wustl.edu 37 7 99489911 99489913 + In_Frame_Del DEL AGA AGA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 7 99489911 99489913 AGA - DEL TRIM4 ENST00000355947 human ensembl 74_37 -1 known in_frame_del c.1378_1376 p.F459in_frame_del 1.000:1.000:1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM4 HGNC ENSG00000146833 475 0 0 238 82 25.625 VPS13B 0 genome.wustl.edu 37 8 100133608 100133608 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 100133608 100133608 C - DEL VPS13B ENST00000358544 human ensembl 74_37 +1 known frame_shift_del c.1141 p.Q381fs 0.940 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 245 0 0 225 13 5.46218 RGS22 0 genome.wustl.edu 37 8 100990178 100990178 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 100990178 100990178 T - DEL RGS22 ENST00000360863 human ensembl 74_37 -1 known frame_shift_del c.3486 p.K1162fs 0.010 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 119 0 0 113 34 23.1293 POLR2K 0 genome.wustl.edu 37 8 101164033 101164033 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 101164033 101164033 T - DEL POLR2K ENST00000519765 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POLR2K HGNC ENSG00000147669 45 0 0 34 10 22.7273 UBR5 0 genome.wustl.edu 37 8 103289349 103289349 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 263 0 0 160 105 39.6226 LRP12 0 genome.wustl.edu 37 8 105509717 105509717 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 105509717 105509717 A - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.1006 p.C336fs 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 207 0 0 160 32 16.6667 SOX7 0 genome.wustl.edu 37 8 10583646 10583646 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 10583646 10583646 G - DEL SOX7 ENST00000553390 human ensembl 74_37 -1 known frame_shift_del c.925 p.L309fs 0.665 pfam_Sox_C_TAD pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 106 0 0 85 21 19.8113 ATAD2 0 genome.wustl.edu 37 8 124368685 124368685 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 124368685 124368685 A - DEL ATAD2 ENST00000287394 human ensembl 74_37 -1 known frame_shift_del c.1590 p.F530fs 1.000 pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_Bromodomain,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2 HGNC ENSG00000156802 58 0 0 72 6 7.69231 DLC1 0 genome.wustl.edu 37 8 12957997 12957997 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 12957997 12957997 G - DEL DLC1 ENST00000276297 human ensembl 74_37 -1 known frame_shift_del c.1849 p.R617fs 0.834 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 211 0 0 176 23 11.5578 ZFAT-AS1 0 genome.wustl.edu 37 8 135612914 135612914 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 135612914 135612914 A - DEL ZFAT-AS1 ENST00000505776 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ZFAT-AS1 HGNC ENSG00000248492 99 0 0 86 16 15.6863 AGO2 0 genome.wustl.edu 37 8 141559309 141559309 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 141559309 141559309 C - DEL AGO2 ENST00000220592 human ensembl 74_37 -1 known frame_shift_del c.1492 p.A498fs 0.995 NULL pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 84 0 0 79 5 5.95238 SCRIB 0 genome.wustl.edu 37 8 144890900 144890902 + In_Frame_Del DEL TCC TCC - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 144890900 144890902 TCC - DEL SCRIB ENST00000320476 human ensembl 74_37 -1 known in_frame_del c.1994_1992 p.E666in_frame_del 0.923:0.929:0.830 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 103 0 0 96 19 16.5217 MYOM2 0 genome.wustl.edu 37 8 2088683 2088683 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 2088683 2088683 G - DEL MYOM2 ENST00000262113 human ensembl 74_37 +1 known frame_shift_del c.3838 p.S1282fs 1.000 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 183 0 0 136 17 11.1111 DMTN 0 genome.wustl.edu 37 8 21926551 21926552 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 21926551 21926552 - C INS DMTN ENST00000265800 human ensembl 74_37 +1 known frame_shift_ins c.274_275 p.P95fs 1.000:1.000 NULL pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 187 0 0 162 16 8.98876 ADAM28 0 genome.wustl.edu 37 8 24188715 24188715 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 24188715 24188715 T - DEL ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_del c.1156 p.F387fs 0.969 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 327 0 0 270 46 14.557 ADAMDEC1 0 genome.wustl.edu 37 8 24257686 24257686 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 24257686 24257686 A - DEL ADAMDEC1 ENST00000256412 human ensembl 74_37 +1 known frame_shift_del c.1015 p.K341fs 0.044 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B - no_errors ADAMDEC1 HGNC ENSG00000134028 53 0 0 32 16 33.3333 RBPMS 0 genome.wustl.edu 37 8 30361897 30361898 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 30361897 30361898 - A INS RBPMS ENST00000339877 human ensembl 74_37 +1 known frame_shift_ins c.341_342 p.N115fs 1.000:1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBPMS HGNC ENSG00000157110 192 0 0 169 26 13.3333 RAB11FIP1 0 genome.wustl.edu 37 8 37730180 37730181 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 37730180 37730181 - T INS RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known frame_shift_ins c.2140_2139 p.Q713fs 0.015:0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 163 0 0 111 26 18.9781 PCMTD1 0 genome.wustl.edu 37 8 52758239 52758239 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 52758239 52758239 T - DEL PCMTD1 ENST00000360540 human ensembl 74_37 -1 known frame_shift_del c.392 p.N131fs 1.000 pfam_PCMT pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 79 0 0 56 14 20 CHD7 0 genome.wustl.edu 37 8 61778454 61778454 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 61778454 61778454 G - DEL CHD7 ENST00000423902 human ensembl 74_37 +1 known frame_shift_del c.8956 p.D2988fs 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 34 0 0 26 5 16.129 RRS1 0 genome.wustl.edu 37 8 67341501 67341501 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 67341501 67341501 C - DEL RRS1 ENST00000320270 human ensembl 74_37 +1 known frame_shift_del c.135 p.P47fs 1.000 pfam_Ribosom_reg pfam_Ribosom_reg - no_errors RRS1 HGNC ENSG00000179041 14 0 0 16 8 33.3333 SGK3 0 genome.wustl.edu 37 8 67763086 67763086 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 67763086 67763086 T - DEL SGK3 ENST00000345714 human ensembl 74_37 +1 known frame_shift_del c.1251 p.F419fs 0.029 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,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 23 0 0 24 3 11.1111 SULF1 0 genome.wustl.edu 37 8 70514026 70514026 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 70514026 70514026 T - DEL SULF1 ENST00000260128 human ensembl 74_37 +1 known frame_shift_del c.1023 p.F343fs 0.786 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 604 1 0.165289 533 115 17.7469 PRDM14 0 genome.wustl.edu 37 8 70981471 70981471 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 70981471 70981471 C - DEL PRDM14 ENST00000276594 human ensembl 74_37 -1 known frame_shift_del c.625 p.V209fs 0.000 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 211 0 0 161 29 15.2632 TRPA1 0 genome.wustl.edu 37 8 72958792 72958792 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 72958792 72958792 T - DEL TRPA1 ENST00000262209 human ensembl 74_37 -1 known frame_shift_del c.2017 p.T673fs 0.001 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 197 0 0 158 33 17.2775 KCNB2 0 genome.wustl.edu 37 8 73480397 73480397 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 73480397 73480397 A - DEL KCNB2 ENST00000523207 human ensembl 74_37 +1 known frame_shift_del c.428 p.E146fs 1.000 prints_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,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_Kv2.2,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB2 HGNC ENSG00000182674 265 0 0 179 32 15.1659 STAU2 0 genome.wustl.edu 37 8 74507471 74507471 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 74507471 74507471 T - DEL STAU2 ENST00000524300 human ensembl 74_37 -1 known frame_shift_del c.1091 p.N364fs 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 131 0 0 111 25 18.3824 IL7 0 genome.wustl.edu 37 8 79588016 79588016 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 79588016 79588016 T - DEL IL7 ENST00000523959 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors IL7 HGNC ENSG00000104432 205 0 0 158 32 16.8421 ENSG00000253334 0 genome.wustl.edu 37 8 82727641 82727641 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 82727641 82727641 A - DEL ENSG00000253334 ENST00000524337 human ensembl 74_37 +1 known rna NULL NULL 0.496 - - - no_errors RP13-923O23.6 Clone_based_vega_gene ENSG00000253334 45 0 0 20 11 35.4839 RALYL 0 genome.wustl.edu 37 8 85799997 85799997 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 85799997 85799997 G - DEL RALYL ENST00000521268 human ensembl 74_37 +1 known frame_shift_del c.844 p.G283fs 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALYL HGNC ENSG00000184672 204 0 0 145 30 17.1429 LRRCC1 0 genome.wustl.edu 37 8 86041489 86041489 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 86041489 86041489 A - DEL LRRCC1 ENST00000360375 human ensembl 74_37 +1 known frame_shift_del c.1501 p.K502fs 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin - no_errors LRRCC1 HGNC ENSG00000133739 247 1 0.403226 226 59 20.7018 RBM12B 0 genome.wustl.edu 37 8 94746312 94746312 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 94746312 94746312 G - DEL RBM12B ENST00000399300 human ensembl 74_37 -1 known frame_shift_del c.2327 p.P776fs 0.042 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12B HGNC ENSG00000183808 147 0 0 99 18 15.3846 ESRP1 0 genome.wustl.edu 37 8 95686611 95686611 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 95686611 95686611 A - DEL ESRP1 ENST00000433389 human ensembl 74_37 +1 known frame_shift_del c.1528 p.N512fs 1.000 smart_RRM_dom superfamily_RNaseH-like_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ESRP1 HGNC ENSG00000104413 114 0 0 92 23 20 SNORA72 0 genome.wustl.edu 37 8 99054837 99054837 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 8 99054837 99054837 A - DEL SNORA72 ENST00000501016 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors KB-1208A12.3 Clone_based_vega_gene ENSG00000245970 99 0 0 73 30 29.1262 XPA 0 genome.wustl.edu 37 9 100437634 100437634 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 100437634 100437634 T - DEL XPA ENST00000485042 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XPA HGNC ENSG00000136936 10 0 0 9 5 35.7143 SUSD1 0 genome.wustl.edu 37 9 114825229 114825229 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 114825229 114825229 T - DEL SUSD1 ENST00000374264 human ensembl 74_37 -1 known frame_shift_del c.1838 p.N613fs 0.991 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 356 1 0.280112 191 66 25.6809 ZFP37 0 genome.wustl.edu 37 9 115806416 115806416 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 115806416 115806416 T - DEL ZFP37 ENST00000553380 human ensembl 74_37 -1 known frame_shift_del c.527 p.N176fs 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 ZFP37 HGNC ENSG00000136866 212 1 0.469484 115 36 23.8411 GAPVD1 0 genome.wustl.edu 37 9 128116933 128116933 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 128116933 128116933 A - DEL GAPVD1 ENST00000394105 human ensembl 74_37 +1 known frame_shift_del c.3651 p.R1219fs 1.000 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 230 0 0 115 42 26.7516 MVB12B 0 genome.wustl.edu 37 9 129157961 129157961 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 129157961 129157961 C - DEL MVB12B ENST00000361171 human ensembl 74_37 +1 known frame_shift_del c.647 p.N218fs 1.000 pfam_FAM125 pfam_FAM125 - no_errors MVB12B HGNC ENSG00000196814 326 0 0 186 25 11.8483 SLC2A8 0 genome.wustl.edu 37 9 130165880 130165880 + RNA DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 130165880 130165880 G - DEL SLC2A8 ENST00000489239 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC2A8 HGNC ENSG00000136856 103 0 0 56 11 16.4179 ODF2 0 genome.wustl.edu 37 9 131222909 131222909 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 131222909 131222909 A - DEL ODF2 ENST00000351030 human ensembl 74_37 +1 known frame_shift_del c.72 p.K26fs 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 180 0 0 94 27 22.314 NUP214 0 genome.wustl.edu 37 9 134007993 134007993 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 134007993 134007993 A - DEL NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_del c.674 p.V228fs 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 253 0 0 113 43 27.5641 NUP214 0 genome.wustl.edu 37 9 134073008 134073008 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 134073008 134073008 C - DEL NUP214 ENST00000451030 human ensembl 74_37 +1 known frame_shift_del c.4130 p.P1379fs 0.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 230 0 0 125 31 19.8718 SNHG7 0 genome.wustl.edu 37 9 139616526 139616526 + RNA DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 139616526 139616526 G - DEL SNHG7 ENST00000414282 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNHG7 HGNC ENSG00000233016 87 0 0 59 20 25.3165 MAN1B1 0 genome.wustl.edu 37 9 139995548 139995548 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 139995548 139995548 G - DEL MAN1B1 ENST00000371589 human ensembl 74_37 +1 known frame_shift_del c.1008 p.L339fs 0.999 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1B1 HGNC ENSG00000177239 215 0 0 95 31 24.6032 CACNA1B 0 genome.wustl.edu 37 9 141016157 141016157 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 141016157 141016157 C - DEL CACNA1B ENST00000371355 human ensembl 74_37 +1 known frame_shift_del c.6729 p.L2245fs 0.987 NULL 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 96 0 0 57 18 24 PSIP1 0 genome.wustl.edu 37 9 15490046 15490050 + Frame_Shift_Del DEL CTTTT CTTTT - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 CTTTT CTTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 15490046 15490050 CTTTT - DEL PSIP1 ENST00000380733 human ensembl 74_37 -1 known frame_shift_del c.226_222 p.K75fs 1.000:1.000:1.000:1.000:0.999 pfam_PWWP_dom pfam_LEDGF,pfam_PWWP_dom,smart_PWWP_dom,pfscan_PWWP_dom,prints_Treacle-like_TCS - no_errors PSIP1 HGNC ENSG00000164985 45 0 0 59 14 19.1781 MLLT3 0 genome.wustl.edu 37 9 20413952 20413952 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 20413952 20413952 T - DEL MLLT3 ENST00000380338 human ensembl 74_37 -1 known frame_shift_del c.892 p.R298fs 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 459 0 0 315 17 5.12048 DNAJA1 0 genome.wustl.edu 37 9 33026949 33026949 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 33026949 33026949 T - DEL DNAJA1 ENST00000330899 human ensembl 74_37 +1 known frame_shift_del c.271 p.F92fs 1.000 superfamily_DnaJ_domain pfam_DnaJ_C,pfam_DnaJ_domain,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA1 HGNC ENSG00000086061 143 0 0 92 28 23.3333 FANCG 0 genome.wustl.edu 37 9 35077347 35077347 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35077347 35077347 G - DEL FANCG ENST00000378643 human ensembl 74_37 -1 known frame_shift_del c.560 p.P187fs 0.943 superfamily_Sig_transdc_His_kin_Hpt_dom superfamily_Sig_transdc_His_kin_Hpt_dom,smart_TPR_repeat - no_errors FANCG HGNC ENSG00000221829 312 0 0 199 15 7.00935 FAM166B 0 genome.wustl.edu 37 9 35562439 35562439 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 35562439 35562439 G - DEL FAM166B ENST00000447837 human ensembl 74_37 -1 known frame_shift_del c.609 p.T204fs 0.001 NULL pfam_UPF0573/UPF0605 - no_errors FAM166B HGNC ENSG00000215187 22 0 0 7 6 46.1538 DOCK8 0 genome.wustl.edu 37 9 405014 405015 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 405014 405015 - T INS DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_ins c.3331_3332 p.M1114fs 1.000:1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 134 1 0.740741 115 10 8 ERMP1 0 genome.wustl.edu 37 9 5801292 5801292 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 5801292 5801292 T - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1951 p.T651fs 0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 126 0 0 54 26 32.5 SPATA31D1 0 genome.wustl.edu 37 9 84608132 84608132 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 84608132 84608132 G - DEL SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known frame_shift_del c.2747 p.G917fs 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 86 0 0 45 14 23.7288 DAPK1 0 genome.wustl.edu 37 9 90254368 90254368 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 90254368 90254368 A - DEL DAPK1 ENST00000469640 human ensembl 74_37 +1 known frame_shift_del c.523 p.N176fs 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_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt - no_errors DAPK1 HGNC ENSG00000196730 230 0 0 178 13 6.80628 OMD 0 genome.wustl.edu 37 9 95179830 95179830 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 95179830 95179830 A - DEL OMD ENST00000375550 human ensembl 74_37 -1 known frame_shift_del c.11 p.L4fs 0.989 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors OMD HGNC ENSG00000127083 58 0 0 33 8 19.5122 WNK2 0 genome.wustl.edu 37 9 96082789 96082789 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 96082789 96082789 T - DEL WNK2 ENST00000471076 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WNK2 HGNC ENSG00000165238 13 0 0 9 6 40 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 96422612 96422612 A - DEL PHF2 ENST00000359246 human ensembl 74_37 +1 known frame_shift_del c.1468 p.K492fs 1.000 NULL pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF2 HGNC ENSG00000197724 35 0 0 9 3 25 NUTM2G 0 genome.wustl.edu 37 9 99699450 99699450 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 9 99699450 99699450 C - DEL NUTM2G ENST00000372322 human ensembl 74_37 +1 known frame_shift_del c.1087 p.P364fs 0.008 NULL NULL - no_errors NUTM2G HGNC ENSG00000188152 169 0 0 119 8 6.29921 BTK 0 genome.wustl.edu 37 X 100608059 100608061 + RNA DEL AAA AAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 100608059 100608061 AAA - DEL BTK ENST00000470069 human ensembl 74_37 -1 known rna NULL NULL 0.006:0.016:0.023 - - - no_errors BTK HGNC ENSG00000010671 83 0 0 23 7 23.3333 NRK 0 genome.wustl.edu 37 X 105152922 105152923 + Frame_Shift_Ins INS - - G TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 105152922 105152923 - G INS NRK ENST00000428173 human ensembl 74_37 +1 known frame_shift_ins c.1292_1293 p.Q433fs 0.392:0.384 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 103 0 0 56 14 20 IRS4 0 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 74_37 -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 766 1 0.130378 476 86 15.3025 AGTR2 0 genome.wustl.edu 37 X 115303928 115303928 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 115303928 115303928 T - DEL AGTR2 ENST00000371906 human ensembl 74_37 +1 known frame_shift_del c.395 p.F134fs 1.000 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_ATII_AT2_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt,prints_Brdyknn_rcpt,prints_Chemokine_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors AGTR2 HGNC ENSG00000180772 687 0 0 375 137 26.7578 ZNF280C 0 genome.wustl.edu 37 X 129370542 129370543 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 129370542 129370543 - T INS ZNF280C ENST00000370978 human ensembl 74_37 -1 known frame_shift_ins c.565_564 p.P188fs 0.805:0.653 NULL smart_Znf_C2H2-like - no_errors ZNF280C HGNC ENSG00000056277 157 0 0 117 8 6.4 HS6ST2 0 genome.wustl.edu 37 X 131762581 131762582 + Frame_Shift_Ins INS - - A TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 131762581 131762582 - A INS HS6ST2 ENST00000521489 human ensembl 74_37 -1 known frame_shift_ins c.1608_1607 p.L536fs 1.000:1.000 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST2 HGNC ENSG00000171004 514 0 0 263 69 20.7831 MOSPD1 0 genome.wustl.edu 37 X 134033048 134033048 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 134033048 134033048 T - DEL MOSPD1 ENST00000462060 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MOSPD1 HGNC ENSG00000101928 163 1 0.609756 83 35 29.661 MAP7D3 0 genome.wustl.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 135314194 135314194 G - DEL MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_del c.868 p.Q290fs 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 639 0 0 377 107 22.1074 OFD1 0 genome.wustl.edu 37 X 13778758 13778758 + Frame_Shift_Del DEL G G - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 13778758 13778758 G - DEL OFD1 ENST00000340096 human ensembl 74_37 +1 known frame_shift_del c.2179 p.G728fs 0.000 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 238 0 0 121 35 22.4359 OFD1 0 genome.wustl.edu 37 X 13787350 13787350 + RNA DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 13787350 13787350 T - DEL OFD1 ENST00000490265 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors OFD1 HGNC ENSG00000046651 107 1 0.925926 46 19 29.2308 ATP11C 0 genome.wustl.edu 37 X 138864772 138864773 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 138864772 138864773 - T INS ATP11C ENST00000327569 human ensembl 74_37 -1 known frame_shift_ins c.1895_1894 p.M632fs 1.000:0.995 pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP11C HGNC ENSG00000101974 156 0 0 100 30 23.0769 ENSG00000270726 0 genome.wustl.edu 37 X 155255057 155255058 + RNA INS - - C TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 155255057 155255058 - C INS ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.069:0.076 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 72 0 0 47 6 11.3208 ACE2 0 genome.wustl.edu 37 X 15584646 15584646 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 15584646 15584646 A - DEL ACE2 ENST00000473851 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ACE2 HGNC ENSG00000130234 83 0 0 48 7 12.7273 NR0B1 0 genome.wustl.edu 37 X 30326975 30326975 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 30326975 30326975 C - DEL NR0B1 ENST00000378970 human ensembl 74_37 -1 known frame_shift_del c.506 p.G169fs 0.002 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt - no_errors NR0B1 HGNC ENSG00000169297 44 0 0 30 7 18.9189 PRRG1 0 genome.wustl.edu 37 X 37312611 37312611 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 37312611 37312611 C - DEL PRRG1 ENST00000378628 human ensembl 74_37 +1 known frame_shift_del c.394 p.P134fs 0.109 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG1 HGNC ENSG00000130962 330 2 0.60241 185 52 21.9409 RPGR 0 genome.wustl.edu 37 X 38144857 38144857 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 38144857 38144857 T - DEL RPGR ENST00000378505 human ensembl 74_37 -1 known frame_shift_del c.3395 p.N1132fs 0.069 NULL pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 485 0 0 279 130 31.7848 BCOR 0 genome.wustl.edu 37 X 39923086 39923087 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 39923086 39923087 - T INS BCOR ENST00000378444 human ensembl 74_37 -1 known frame_shift_ins c.3622_3621 p.Q1207fs 1.000:0.999 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 135 0 0 78 30 27.7778 MED14 0 genome.wustl.edu 37 X 40588606 40588608 + RNA DEL AAA AAA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 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 89 0 0 55 15 21.4286 USP9X 0 genome.wustl.edu 37 X 41055854 41055855 + Frame_Shift_Del DEL AG AG - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 41055854 41055855 AG - DEL USP9X ENST00000324545 human ensembl 74_37 +1 known frame_shift_del c.4096_4097 p.R1368fs 0.999:1.000 NULL pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 191 0 0 123 7 5.38462 SHROOM4 0 genome.wustl.edu 37 X 50345633 50345634 + Frame_Shift_Ins INS - - T TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 50345633 50345634 - T INS SHROOM4 ENST00000289292 human ensembl 74_37 -1 known frame_shift_ins c.3942_3941 p.I1315fs 1.000:1.000 pfam_ASD2 pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 461 1 0.21645 290 76 20.765 UBQLN2 0 genome.wustl.edu 37 X 56591874 56591874 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 56591874 56591874 C - DEL UBQLN2 ENST00000338222 human ensembl 74_37 +1 known frame_shift_del c.1568 p.P525fs 0.175 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN2 HGNC ENSG00000188021 22 0 0 15 8 34.7826 ZC3H12B 0 genome.wustl.edu 37 X 64721671 64721671 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 64721671 64721671 A - DEL ZC3H12B ENST00000338957 human ensembl 74_37 +1 known frame_shift_del c.1093 p.K366fs 1.000 NULL pfam_RNase_Zc3h12 - no_errors ZC3H12B HGNC ENSG00000102053 26 0 0 14 4 22.2222 NAP1L2 0 genome.wustl.edu 37 X 72433979 72433979 + Frame_Shift_Del DEL T T - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 72433979 72433979 T - DEL NAP1L2 ENST00000373517 human ensembl 74_37 -1 known frame_shift_del c.350 p.K117fs 1.000 pfam_NAP_family pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 283 0 0 157 47 23.0392 XIST 0 genome.wustl.edu 37 X 73071762 73071762 + RNA DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 73071762 73071762 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.649 - - - no_errors XIST HGNC ENSG00000229807 179 0 0 90 33 26.8293 KIAA2022 0 genome.wustl.edu 37 X 73960658 73960658 + Frame_Shift_Del DEL C C - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 73960658 73960658 C - DEL KIAA2022 ENST00000055682 human ensembl 74_37 -1 known frame_shift_del c.3734 p.G1245fs 0.055 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 85 0 0 49 12 19.6721 ATRX 0 genome.wustl.edu 37 X 76763680 76763681 + RNA DEL AA AA - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 76763680 76763681 AA - DEL ATRX ENST00000480283 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.001 - - - no_errors ATRX HGNC ENSG00000085224 25 0 0 12 4 25 TNMD 0 genome.wustl.edu 37 X 99854070 99854070 + Frame_Shift_Del DEL A A - TCGA-BR-4361-01A-01D-1158-08 TCGA-BR-4361-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq f77aa205-e68f-4aaf-9d3c-29c8f821aa26 53c89408-014c-4e0a-b04d-497c1ce75a51 X 99854070 99854070 A - DEL TNMD ENST00000373031 human ensembl 74_37 +1 known frame_shift_del c.635 p.216fs 0.000 NULL pfam_BRICHOS_dom,superfamily_Chitin-bd_1,pfscan_BRICHOS_dom - no_errors TNMD HGNC ENSG00000000005 72 0 0 59 8 11.9403