Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AGL 0 genome.wustl.edu 37 1 100342155 100342155 + Splice_Site SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 100342155 100342155 T C SNP AGL ENST00000294724 human ensembl 74_37 +1 known splice_site c.1423+2 e10+2 0.994 - - - no_errors AGL HGNC ENSG00000162688 137 0 0 62 35 36.0825 S1PR1 0 genome.wustl.edu 37 1 101704655 101704655 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 101704655 101704655 G A SNP S1PR1 ENST00000305352 human ensembl 74_37 +1 known missense c.115 p.A39T 0.006 prints_EDG1_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_EDG1_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn,prints_Melcrt_ACTH_rcpt - no_errors S1PR1 HGNC ENSG00000170989 138 0 0 58 32 35.5556 KIF1B 0 genome.wustl.edu 37 1 10336425 10336425 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 10336425 10336425 T C SNP KIF1B ENST00000263934 human ensembl 74_37 +1 known silent c.987 p.D329 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom 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 62 0 0 37 6 13.9535 COL11A1 0 genome.wustl.edu 37 1 103379956 103379956 + Silent SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 103379956 103379956 A T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.3966 p.P1322 0.949 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 76 0 0 27 10 27.027 AMY2B 0 genome.wustl.edu 37 1 104114092 104114092 + RNA SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 104114092 104114092 A C SNP AMY2B ENST00000491397 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors AMY2B HGNC ENSG00000240038 51 0 0 46 12 20.6897 CLCC1 0 genome.wustl.edu 37 1 109479933 109479933 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 109479933 109479933 C A SNP CLCC1 ENST00000356970 human ensembl 74_37 -1 known missense c.1149 p.E383D 0.833 pfam_Chloride_chnl_CLIC-like pfam_Chloride_chnl_CLIC-like - no_errors CLCC1 HGNC ENSG00000121940 125 0 0 50 26 34.2105 WDR47 0 genome.wustl.edu 37 1 109553736 109553736 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 109553736 109553736 C T SNP WDR47 ENST00000400794 human ensembl 74_37 -1 known missense c.953 p.R318H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_CTLH_C,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_CTLH_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR47 HGNC ENSG00000085433 577 0 0 206 136 39.7661 CELSR2 0 genome.wustl.edu 37 1 109794579 109794579 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 109794579 109794579 C T SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known silent c.1878 p.G626 0.999 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR2 HGNC ENSG00000143126 245 0 0 58 31 34.8315 CELSR2 0 genome.wustl.edu 37 1 109804465 109804465 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 109804465 109804465 G A SNP CELSR2 ENST00000271332 human ensembl 74_37 +1 known missense c.4333 p.G1445R 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 12 0 0 7 3 30 MOV10 0 genome.wustl.edu 37 1 113241375 113241375 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 113241375 113241375 G A SNP MOV10 ENST00000357443 human ensembl 74_37 +1 known silent c.2547 p.R849 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors MOV10 HGNC ENSG00000155363 355 0 0 113 49 30.2469 PTCHD2 0 genome.wustl.edu 37 1 11595573 11595573 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 11595573 11595573 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3688 p.G1230S 1.000 pfam_Patched,pfam_MMPL_dom pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 151 0 0 66 12 15.3846 WDR3 0 genome.wustl.edu 37 1 118499758 118499758 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 118499758 118499758 G A SNP WDR3 ENST00000349139 human ensembl 74_37 +1 known missense c.2521 p.E841K 0.119 pfam_SSU_processome_Utp12 pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 267 0 0 123 84 40.5797 VWA1 0 genome.wustl.edu 37 1 1372687 1372687 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 1372687 1372687 G A SNP VWA1 ENST00000476993 human ensembl 74_37 +1 known missense c.454 p.G152S 0.754 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors VWA1 HGNC ENSG00000179403 26 0 0 15 4 21.0526 PPIAL4G 0 genome.wustl.edu 37 1 143767741 143767741 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 143767741 143767741 A G SNP PPIAL4G ENST00000419275 human ensembl 74_37 -1 known silent c.108 p.F36 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 PPIAL4G HGNC ENSG00000236334 519 0 0 279 92 24.7978 PIAS3 0 genome.wustl.edu 37 1 145584029 145584029 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 145584029 145584029 G A SNP PIAS3 ENST00000393045 human ensembl 74_37 +1 known silent c.1260 p.P420 0.804 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS3 HGNC ENSG00000131788 557 0 0 182 108 37.2414 NBPF20 0 genome.wustl.edu 37 1 148346675 148346675 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 148346675 148346675 A G SNP NBPF20 ENST00000369202 human ensembl 74_37 -1 known silent c.82 p.L28 0.026 NULL pfam_NBPF_dom - no_errors NBPF20 HGNC ENSG00000203832 388 0 0 202 74 26.8116 ANP32E 0 genome.wustl.edu 37 1 150201415 150201415 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 150201415 150201415 C A SNP ANP32E ENST00000314136 human ensembl 74_37 -1 known missense c.483 p.E161D 0.565 NULL pfam_Leu-rich_rpt - no_errors ANP32E HGNC ENSG00000143401 155 0 0 112 12 9.67742 TARS2 0 genome.wustl.edu 37 1 150460423 150460423 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 150460423 150460423 C T SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known silent c.156 p.S52 0.001 NULL pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 141 0 0 71 14 16.4706 POGZ 0 genome.wustl.edu 37 1 151400802 151400802 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 151400802 151400802 G T SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.656 p.P219H 1.000 NULL 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 451 0 0 146 50 25.5102 TCHH 0 genome.wustl.edu 37 1 152080396 152080396 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 152080396 152080396 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5297 p.R1766H 0.147 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 210 0 0 67 45 40.1786 FLG 0 genome.wustl.edu 37 1 152284505 152284505 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 152284505 152284505 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.2857 p.E953Q 0.002 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 780 1 0.128041 291 46 13.6499 FLG 0 genome.wustl.edu 37 1 152285028 152285028 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 152285028 152285028 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known silent c.2334 p.S778 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 745 0 0 299 140 31.8907 FLG 0 genome.wustl.edu 37 1 152285861 152285861 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 152285861 152285861 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known nonsense c.1501 p.R501* 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 750 2 0.265957 250 134 34.8958 SPRR1B 0 genome.wustl.edu 37 1 153004968 153004968 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 153004968 153004968 C T SNP SPRR1B ENST00000307098 human ensembl 74_37 +1 known silent c.147 p.C49 1.000 pfam_Cornifin pfam_Cornifin - no_errors SPRR1B HGNC ENSG00000169469 238 0 0 73 49 40.1639 SLC50A1 0 genome.wustl.edu 37 1 155108811 155108811 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 155108811 155108811 G T SNP SLC50A1 ENST00000368401 human ensembl 74_37 +1 known nonsense c.76 p.G26* 1.000 NULL pfam_SWEET_sugar_transpr - no_errors SLC50A1 HGNC ENSG00000169241 40 0 0 5 3 37.5 DPM3 0 genome.wustl.edu 37 1 155112444 155112444 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 155112444 155112444 G A SNP DPM3 ENST00000341298 human ensembl 74_37 -1 known silent c.273 p.R91 1.000 pfam_DPM3 pfam_DPM3 - no_errors DPM3 HGNC ENSG00000179085 191 0 0 48 30 38.4615 CLK2 0 genome.wustl.edu 37 1 155233068 155233068 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 155233068 155233068 G A SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.1441 p.R481C 0.978 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 CLK2 HGNC ENSG00000176444 88 0 0 27 13 32.5 ASH1L 0 genome.wustl.edu 37 1 155448699 155448699 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 155448699 155448699 C T SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.3962 p.R1321Q 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 166 0 0 87 49 36.0294 CD5L 0 genome.wustl.edu 37 1 157804523 157804523 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 157804523 157804523 A G SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.392 p.F131S 0.002 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 131 0 0 42 17 28.8136 SPTA1 0 genome.wustl.edu 37 1 158609686 158609686 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 158609686 158609686 G A SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.4849 p.R1617W 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 227 0 0 85 50 37.037 KCNJ9 0 genome.wustl.edu 37 1 160053937 160053937 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 160053937 160053937 C T SNP KCNJ9 ENST00000368088 human ensembl 74_37 +1 known silent c.117 p.R39 0.994 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_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 11 0 0 5 4 44.4444 FCRLA 0 genome.wustl.edu 37 1 161681533 161681533 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 161681533 161681533 C T SNP FCRLA ENST00000470841 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FCRLA HGNC ENSG00000132185 46 0 0 21 7 25 FCRLB 0 genome.wustl.edu 37 1 161697260 161697260 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 161697260 161697260 G A SNP FCRLB ENST00000367946 human ensembl 74_37 +1 known missense c.944 p.R315Q 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 160 0 0 41 27 39.7059 MGST3 0 genome.wustl.edu 37 1 165624622 165624622 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 165624622 165624622 C T SNP MGST3 ENST00000367886 human ensembl 74_37 +1 known nonsense c.382 p.R128* 0.910 pfam_Membr-assoc_MAPEG pfam_Membr-assoc_MAPEG - no_errors MGST3 HGNC ENSG00000143198 68 0 0 28 15 34.8837 SCYL3 0 genome.wustl.edu 37 1 169828337 169828337 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 169828337 169828337 C T SNP SCYL3 ENST00000367770 human ensembl 74_37 -1 known missense c.1157 p.R386H 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_HEAT_type_2,pfscan_Prot_kinase_dom - no_errors SCYL3 HGNC ENSG00000000457 65 0 0 26 20 43.4783 ATP13A2 0 genome.wustl.edu 37 1 17312850 17312850 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 17312850 17312850 C T SNP ATP13A2 ENST00000326735 human ensembl 74_37 -1 known missense c.3409 p.V1137M 0.001 NULL pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A2 HGNC ENSG00000159363 14 0 0 4 6 60 MRPS14 0 genome.wustl.edu 37 1 174992492 174992492 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 174992492 174992492 G T SNP MRPS14 ENST00000367677 human ensembl 74_37 -1 known missense c.53 p.P18H 0.000 NULL NULL - no_errors MRPS14 HGNC ENSG00000120333 48 0 0 14 4 22.2222 TNN 0 genome.wustl.edu 37 1 175049336 175049336 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 175049336 175049336 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known silent c.822 p.T274 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_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 TNN HGNC ENSG00000120332 104 0 0 32 17 34.6939 TNR 0 genome.wustl.edu 37 1 175355234 175355234 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 175355234 175355234 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known missense c.1711 p.E571K 0.789 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_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 205 0 0 51 33 39.2857 RFWD2 0 genome.wustl.edu 37 1 175956141 175956141 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 175956141 175956141 G A SNP RFWD2 ENST00000367669 human ensembl 74_37 -1 known nonsense c.2071 p.R691* 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors RFWD2 HGNC ENSG00000143207 162 0 0 80 24 23.0769 TDRD5 0 genome.wustl.edu 37 1 179620047 179620047 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 179620047 179620047 G A SNP TDRD5 ENST00000444136 human ensembl 74_37 +1 known missense c.1846 p.G616S 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 237 0 0 81 46 36.2205 CACNA1E 0 genome.wustl.edu 37 1 181741306 181741306 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 181741306 181741306 G A SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.5078 p.R1693H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 234 0 0 66 20 23.2558 GLUL 0 genome.wustl.edu 37 1 182354926 182354926 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 182354926 182354926 G A SNP GLUL ENST00000311223 human ensembl 74_37 -1 known missense c.572 p.A191V 0.003 pfam_Gln_synth_cat_dom pfam_Gln_synth_cat_dom,pfam_Gln_synt_beta,superfamily_Gln_synt_beta - no_errors GLUL HGNC ENSG00000135821 627 0 0 186 115 38.206 RGL1 0 genome.wustl.edu 37 1 183885736 183885736 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 183885736 183885736 G A SNP RGL1 ENST00000304685 human ensembl 74_37 +1 known silent c.2010 p.S670 0.993 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RGL1 HGNC ENSG00000143344 183 1 0.543478 76 45 37.1901 HMCN1 0 genome.wustl.edu 37 1 186122926 186122926 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 186122926 186122926 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.15063 p.Y5021 0.866 pfam_G2_nidogen/fibulin_G2F,superfamily_GFP,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F 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 107 0 0 41 28 40.5797 TPR 0 genome.wustl.edu 37 1 186326586 186326586 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 186326586 186326586 G A SNP TPR ENST00000367478 human ensembl 74_37 -1 known missense c.1667 p.A556V 1.000 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 127 0 0 76 46 37.7049 C1orf27 0 genome.wustl.edu 37 1 186368101 186368101 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 186368101 186368101 A G SNP C1orf27 ENST00000287859 human ensembl 74_37 +1 known missense c.925 p.I309V 1.000 NULL NULL - no_errors C1orf27 HGNC ENSG00000157181 46 0 0 32 4 11.1111 BRINP3 0 genome.wustl.edu 37 1 190067835 190067835 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 190067835 190067835 C T SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known silent c.1614 p.K538 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 166 0 0 79 53 40.1515 UBR4 0 genome.wustl.edu 37 1 19446794 19446794 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 19446794 19446794 T C SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known missense c.10190 p.N3397S 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 164 0 0 71 4 5.33333 KCNT2 0 genome.wustl.edu 37 1 196300297 196300297 + Silent SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 196300297 196300297 T G SNP KCNT2 ENST00000294725 human ensembl 74_37 -1 known silent c.2092 p.R698 1.000 NULL pfam_K_chnl_Ca-activ_BK_asu,pfam_2pore_dom_K_chnl_dom - no_errors KCNT2 HGNC ENSG00000162687 259 0 0 140 79 36.0731 ZBTB41 0 genome.wustl.edu 37 1 197128758 197128758 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 197128758 197128758 G A SNP ZBTB41 ENST00000367405 human ensembl 74_37 -1 known missense c.2461 p.P821S 0.492 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB41 HGNC ENSG00000177888 114 0 0 83 45 35.1562 CACNA1S 0 genome.wustl.edu 37 1 201022686 201022686 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 201022686 201022686 G A SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.3696 p.S1232 0.999 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 129 0 0 35 25 41.6667 GPR37L1 0 genome.wustl.edu 37 1 202097070 202097070 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 202097070 202097070 C A SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.832 p.P278T 0.482 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 98 0 0 29 13 30.9524 PLA2G2A 0 genome.wustl.edu 37 1 20304940 20304940 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 20304940 20304940 T C SNP PLA2G2A ENST00000375111 human ensembl 74_37 -1 known missense c.118 p.S40G 0.002 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G2A HGNC ENSG00000188257 88 0 0 22 15 40.5405 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 325 0 0 102 31 23.3083 SLC45A3 0 genome.wustl.edu 37 1 205632446 205632446 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 205632446 205632446 C T SNP SLC45A3 ENST00000367145 human ensembl 74_37 -1 known missense c.473 p.R158H 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A3 HGNC ENSG00000158715 88 0 0 24 10 29.4118 PINK1 0 genome.wustl.edu 37 1 20975501 20975501 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 20975501 20975501 G A SNP PINK1 ENST00000321556 human ensembl 74_37 +1 known missense c.1265 p.R422H 0.088 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 PINK1 HGNC ENSG00000158828 64 0 0 20 14 41.1765 SPATA17 0 genome.wustl.edu 37 1 217975157 217975157 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 217975157 217975157 C T SNP SPATA17 ENST00000366933 human ensembl 74_37 +1 known nonsense c.970 p.R324* 0.996 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 47 0 0 29 15 34.0909 TAF1A 0 genome.wustl.edu 37 1 222750877 222750877 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 222750877 222750877 G A SNP TAF1A ENST00000350027 human ensembl 74_37 -1 known missense c.514 p.R172W 1.000 pirsf_RNA_pol_I_TAF1A/TAFI48 pirsf_RNA_pol_I_TAF1A/TAFI48 - no_errors TAF1A HGNC ENSG00000143498 123 0 0 77 40 34.188 LBR 0 genome.wustl.edu 37 1 225598070 225598070 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 225598070 225598070 G A SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1237 p.R413C 0.195 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 210 0 0 78 31 28.4404 ACBD3 0 genome.wustl.edu 37 1 226349293 226349293 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 226349293 226349293 G A SNP ACBD3 ENST00000366812 human ensembl 74_37 -1 known nonsense c.667 p.R223* 0.000 NULL pfam_Acyl-CoA-binding_protein,superfamily_GOLD,superfamily_Acyl-CoA-binding_protein,pfscan_GOLD - no_errors ACBD3 HGNC ENSG00000182827 96 0 0 39 24 38.0952 PARP1 0 genome.wustl.edu 37 1 226568840 226568840 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 226568840 226568840 G A SNP PARP1 ENST00000366794 human ensembl 74_37 -1 known missense c.1229 p.A410V 0.855 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_NAD_ADPRT,pfscan_BRCT_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_Znf_PARP,pfam_PADR1,pfam_WGR_domain,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_WGR_domain,pirsf_NAD_ADPRT,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP1 HGNC ENSG00000143799 93 0 0 45 24 34.7826 OBSCN 0 genome.wustl.edu 37 1 228430947 228430947 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 228430947 228430947 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.2993 p.A998G 0.015 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 50 0 0 10 9 47.3684 OBSCN 0 genome.wustl.edu 37 1 228509573 228509573 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 228509573 228509573 G T SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.15031 p.A5011S 0.968 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 124 0 0 21 8 27.5862 TRIM11 0 genome.wustl.edu 37 1 228582330 228582330 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 228582330 228582330 G A SNP TRIM11 ENST00000460651 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TRIM11 HGNC ENSG00000154370 17 0 0 5 6 54.5455 ABCB10 0 genome.wustl.edu 37 1 229685004 229685004 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 229685004 229685004 C T SNP ABCB10 ENST00000344517 human ensembl 74_37 -1 known missense c.695 p.R232H 0.999 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB10 HGNC ENSG00000135776 162 0 0 46 25 35.2113 GALNT2 0 genome.wustl.edu 37 1 230415295 230415295 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 230415295 230415295 C T SNP GALNT2 ENST00000485438 human ensembl 74_37 +1 known rna NULL NULL 0.993 - - - no_errors GALNT2 HGNC ENSG00000143641 18 0 0 4 7 63.6364 DISC1 0 genome.wustl.edu 37 1 231902976 231902976 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 231902976 231902976 G A SNP DISC1 ENST00000439617 human ensembl 74_37 +1 known silent c.1359 p.T453 0.535 superfamily_Prefoldin superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 128 0 0 51 24 32 MAP10 0 genome.wustl.edu 37 1 232942451 232942451 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 232942451 232942451 T C SNP MAP10 ENST00000418460 human ensembl 74_37 +1 known missense c.1682 p.I561T 0.109 NULL NULL - no_errors MAP10 HGNC ENSG00000212916 81 0 0 43 4 8.51064 KCNK1 0 genome.wustl.edu 37 1 233802686 233802686 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 233802686 233802686 G T SNP KCNK1 ENST00000366621 human ensembl 74_37 +1 known missense c.701 p.G234V 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl - no_errors KCNK1 HGNC ENSG00000135750 157 0 0 44 22 33.3333 ARID4B 0 genome.wustl.edu 37 1 235377281 235377281 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 235377281 235377281 C T SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known silent c.1644 p.E548 1.000 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 119 0 0 67 29 30.2083 NID1 0 genome.wustl.edu 37 1 236201453 236201453 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 236201453 236201453 G T SNP NID1 ENST00000264187 human ensembl 74_37 -1 known nonsense c.1236 p.C412* 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 170 0 0 63 40 38.835 RYR2 0 genome.wustl.edu 37 1 237936847 237936847 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 237936847 237936847 T C SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.11692 p.Y3898H 1.000 pfam_RIH_assoc-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 52 0 0 25 12 32.4324 ZNF496 0 genome.wustl.edu 37 1 247472944 247472944 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 247472944 247472944 G A SNP ZNF496 ENST00000462139 human ensembl 74_37 -1 known rna NULL NULL 0.010 - - - no_errors ZNF496 HGNC ENSG00000162714 27 0 0 12 4 25 OR2M7 0 genome.wustl.edu 37 1 248487774 248487774 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 248487774 248487774 C T SNP OR2M7 ENST00000317965 human ensembl 74_37 -1 known missense c.97 p.A33T 0.123 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M7 HGNC ENSG00000177186 419 0 0 219 130 37.2493 SRRM1 0 genome.wustl.edu 37 1 24981444 24981444 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 24981444 24981444 G A SNP SRRM1 ENST00000447431 human ensembl 74_37 +1 known missense c.1139 p.S380N 1.000 NULL pfam_PWI_dom,superfamily_PWI_dom,smart_PWI_dom - no_errors SRRM1 HGNC ENSG00000133226 179 0 0 44 81 64.8 MAN1C1 0 genome.wustl.edu 37 1 26104703 26104703 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 26104703 26104703 C T SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known silent c.1365 p.S455 0.186 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 MAN1C1 HGNC ENSG00000117643 135 0 0 29 20 40.8163 CATSPER4 0 genome.wustl.edu 37 1 26526548 26526548 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 26526548 26526548 A G SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known missense c.986 p.E329G 0.988 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 34 0 0 17 9 34.6154 HMGN2 0 genome.wustl.edu 37 1 26801762 26801762 + RNA SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 26801762 26801762 G T SNP HMGN2 ENST00000460563 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGN2 HGNC ENSG00000198830 11 0 0 8 11 57.8947 GPATCH3 0 genome.wustl.edu 37 1 27224206 27224206 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 27224206 27224206 G T SNP GPATCH3 ENST00000361720 human ensembl 74_37 -1 known silent c.462 p.S154 0.993 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH3 HGNC ENSG00000198746 37 0 0 17 3 15 DNAJC8 0 genome.wustl.edu 37 1 28527851 28527851 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 28527851 28527851 G A SNP DNAJC8 ENST00000263697 human ensembl 74_37 -1 known nonsense c.670 p.R224* 1.000 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC8 HGNC ENSG00000126698 255 2 0.77821 113 52 31.5152 PRDM16 0 genome.wustl.edu 37 1 3350436 3350436 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 3350436 3350436 C T SNP PRDM16 ENST00000378389 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PRDM16 HGNC ENSG00000142611 37 0 0 10 23 69.697 AGO3 0 genome.wustl.edu 37 1 36474379 36474379 + Splice_Site SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 36474379 36474379 G A SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known splice_site c.881+1 e7+1 1.000 - - - no_errors AGO3 HGNC ENSG00000126070 119 0 0 73 33 31.1321 AGO3 0 genome.wustl.edu 37 1 36505946 36505946 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 36505946 36505946 C T SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known silent c.2076 p.C692 0.998 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 AGO3 HGNC ENSG00000126070 100 0 0 68 15 18.0723 CSF3R 0 genome.wustl.edu 37 1 36940984 36940984 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 36940984 36940984 C T SNP CSF3R ENST00000373103 human ensembl 74_37 -1 known missense c.355 p.A119T 0.990 NULL pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors CSF3R HGNC ENSG00000119535 180 1 0.552486 61 6 8.95522 ENSG00000272153 0 genome.wustl.edu 37 1 3701819 3701819 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 3701819 3701819 C T SNP ENSG00000272153 ENST00000607459 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP1-286D6.5 Clone_based_vega_gene ENSG00000272153 123 0 0 11 30 73.1707 HPCAL4 0 genome.wustl.edu 37 1 40149704 40149704 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 40149704 40149704 C T SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known missense c.283 p.G95S 1.000 pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 114 0 0 43 16 27.1186 SMAP2 0 genome.wustl.edu 37 1 40879887 40879887 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 40879887 40879887 G A SNP SMAP2 ENST00000372718 human ensembl 74_37 +1 known silent c.546 p.A182 0.609 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors SMAP2 HGNC ENSG00000084070 68 0 0 13 31 70.4545 HIVEP3 0 genome.wustl.edu 37 1 41978959 41978959 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 41978959 41978959 C T SNP HIVEP3 ENST00000247584 human ensembl 74_37 -1 known missense c.5933 p.R1978H 0.030 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 237 0 0 24 57 70.3704 TIE1 0 genome.wustl.edu 37 1 43770628 43770628 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 43770628 43770628 C T SNP TIE1 ENST00000372476 human ensembl 74_37 +1 known silent c.165 p.D55 0.024 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TIE1 HGNC ENSG00000066056 10 0 0 3 5 62.5 ST3GAL3 0 genome.wustl.edu 37 1 44386577 44386577 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 44386577 44386577 G A SNP ST3GAL3 ENST00000262915 human ensembl 74_37 +1 known missense c.1222 p.V408I 0.987 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST3GAL3 HGNC ENSG00000126091 52 0 0 2 16 88.8889 KIF2C 0 genome.wustl.edu 37 1 45226082 45226082 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 45226082 45226082 G A SNP KIF2C ENST00000372224 human ensembl 74_37 +1 known missense c.1498 p.A500T 0.997 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_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 KIF2C HGNC ENSG00000142945 71 0 0 29 18 38.2979 BTF3L4 0 genome.wustl.edu 37 1 52530502 52530502 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 52530502 52530502 A C SNP BTF3L4 ENST00000313334 human ensembl 74_37 +1 known silent c.60 p.T20 1.000 NULL pfam_Nas_poly-pep-assoc_cplx_dom,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors BTF3L4 HGNC ENSG00000134717 82 0 0 29 9 23.6842 NPHP4 0 genome.wustl.edu 37 1 5924518 5924518 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 5924518 5924518 G A SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known silent c.3876 p.G1292 0.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 35 0 0 0 11 100 ROR1 0 genome.wustl.edu 37 1 64515460 64515460 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 64515460 64515460 C A SNP ROR1 ENST00000371079 human ensembl 74_37 +1 known silent c.261 p.P87 0.999 pirsf_Tyr_kinase_rcpt_ROR,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_Tyr_kinase_rcpt_ROR,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Kringle,pfam_Frizzled_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Kringle-like,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Kringle,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Kringle,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors ROR1 HGNC ENSG00000185483 250 0 0 61 55 47.4138 SLC35D1 0 genome.wustl.edu 37 1 67470100 67470100 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 67470100 67470100 T C SNP SLC35D1 ENST00000235345 human ensembl 74_37 -1 known missense c.991 p.T331A 1.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D1 HGNC ENSG00000116704 128 0 0 20 25 55.5556 C1orf141 0 genome.wustl.edu 37 1 67558998 67558998 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 67558998 67558998 T C SNP C1orf141 ENST00000371006 human ensembl 74_37 -1 known missense c.893 p.K298R 0.011 NULL NULL - no_errors C1orf141 HGNC ENSG00000203963 137 0 0 73 54 42.5197 FUBP1 0 genome.wustl.edu 37 1 78430841 78430841 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 78430841 78430841 G A SNP FUBP1 ENST00000436586 human ensembl 74_37 -1 known missense c.611 p.P204L 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,pfam_DUF1897,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FUBP1 HGNC ENSG00000162613 256 0 0 122 72 37.1134 DDAH1 0 genome.wustl.edu 37 1 85816154 85816154 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 85816154 85816154 C T SNP DDAH1 ENST00000284031 human ensembl 74_37 -1 known missense c.541 p.A181T 1.000 pfam_Amidino_trans pfam_Amidino_trans - no_errors DDAH1 HGNC ENSG00000153904 291 1 0.342466 124 14 10.1449 PKN2 0 genome.wustl.edu 37 1 89298759 89298759 + Splice_Site SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 89298759 89298759 G A SNP PKN2 ENST00000370521 human ensembl 74_37 +1 known splice_site c.2671-1 e21-1 1.000 - - - no_errors PKN2 HGNC ENSG00000065243 36 0 0 16 11 40.7407 GBP1 0 genome.wustl.edu 37 1 89524752 89524752 + RNA SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 89524752 89524752 A G SNP GBP1 ENST00000493139 human ensembl 74_37 -1 known rna NULL NULL 0.160 - - - no_errors GBP1 HGNC ENSG00000117228 43 0 0 20 14 41.1765 LRRC8B 0 genome.wustl.edu 37 1 90048782 90048782 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 90048782 90048782 G A SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known silent c.573 p.S191 0.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 149 0 0 44 36 45 LOXL4 0 genome.wustl.edu 37 10 100022589 100022589 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 100022589 100022589 G A SNP LOXL4 ENST00000260702 human ensembl 74_37 -1 known missense c.188 p.A63V 0.078 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL4 HGNC ENSG00000138131 131 0 0 39 36 48 TMEM180 0 genome.wustl.edu 37 10 104233735 104233735 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 104233735 104233735 G A SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known silent c.1257 p.P419 0.037 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 52 0 0 19 6 24 WBP1L 0 genome.wustl.edu 37 10 104572451 104572451 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 104572451 104572451 A T SNP WBP1L ENST00000448841 human ensembl 74_37 +1 known missense c.455 p.Q152L 1.000 NULL pfam_Uncharacterised_WW-bd - no_errors WBP1L HGNC ENSG00000166272 166 1 0.598802 57 34 37.3626 SORCS3 0 genome.wustl.edu 37 10 106899179 106899179 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 106899179 106899179 T C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.1237 p.Y413H 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 196 0 0 67 25 27.1739 SMC3 0 genome.wustl.edu 37 10 112361533 112361533 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 112361533 112361533 G A SNP SMC3 ENST00000361804 human ensembl 74_37 +1 known missense c.2783 p.R928Q 1.000 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC3 HGNC ENSG00000108055 201 0 0 106 21 16.5354 ABLIM1 0 genome.wustl.edu 37 10 116203811 116203811 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 116203811 116203811 C T SNP ABLIM1 ENST00000277895 human ensembl 74_37 -1 known missense c.1910 p.R637H 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 254 0 0 86 37 30.0813 PRLHR 0 genome.wustl.edu 37 10 120353838 120353838 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 120353838 120353838 C T SNP PRLHR ENST00000239032 human ensembl 74_37 -1 known missense c.919 p.A307T 0.956 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Prolrel_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors PRLHR HGNC ENSG00000119973 122 0 0 48 5 9.43396 BAG3 0 genome.wustl.edu 37 10 121431767 121431767 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 121431767 121431767 C T SNP BAG3 ENST00000369085 human ensembl 74_37 +1 known missense c.508 p.R170W 1.000 NULL pfam_BAG_domain,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_BAG_domain,pfscan_BAG_domain,pfscan_WW_dom - no_errors BAG3 HGNC ENSG00000151929 128 0 0 30 17 36.1702 MCMBP 0 genome.wustl.edu 37 10 121607133 121607133 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 121607133 121607133 A G SNP MCMBP ENST00000360003 human ensembl 74_37 -1 known silent c.819 p.N273 0.968 pfam_MCM_complex-bd pfam_MCM_complex-bd - no_errors MCMBP HGNC ENSG00000197771 97 0 0 30 24 44.4444 PLEKHA1 0 genome.wustl.edu 37 10 124172489 124172489 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 124172489 124172489 T C SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known silent c.396 p.G132 0.636 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 76 0 0 53 9 14.5161 ADAM12 0 genome.wustl.edu 37 10 127787041 127787041 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 127787041 127787041 C A SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.949 p.G317C 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM12 HGNC ENSG00000148848 296 0 0 124 28 18.4211 DOCK1 0 genome.wustl.edu 37 10 128904520 128904520 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 128904520 128904520 C T SNP DOCK1 ENST00000280333 human ensembl 74_37 +1 known missense c.2408 p.T803M 0.885 superfamily_ARM-type_fold pfam_DOCK_C,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,superfamily_Cyt_c-like_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK1 HGNC ENSG00000150760 17 0 0 5 5 50 MKI67 0 genome.wustl.edu 37 10 129901620 129901620 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 129901620 129901620 T C SNP MKI67 ENST00000368654 human ensembl 74_37 -1 known silent c.8484 p.S2828 0.000 pfam_K167R pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 175 0 0 73 42 36.5217 KNDC1 0 genome.wustl.edu 37 10 134996984 134996984 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 134996984 134996984 C T SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.497 p.P166L 0.923 superfamily_Kinase-like_dom,smart_KIND pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 33 0 0 6 2 25 UTF1 0 genome.wustl.edu 37 10 135044804 135044804 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 135044804 135044804 C T SNP UTF1 ENST00000304477 human ensembl 74_37 +1 known missense c.884 p.P295L 1.000 NULL NULL - no_errors UTF1 HGNC ENSG00000171794 31 0 0 6 6 50 KIAA1217 0 genome.wustl.edu 37 10 24831889 24831889 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 24831889 24831889 A C SNP KIAA1217 ENST00000376454 human ensembl 74_37 +1 known silent c.3690 p.S1230 0.002 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 59 0 0 45 5 10 ARHGAP21 0 genome.wustl.edu 37 10 24874300 24874300 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 24874300 24874300 C T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.4918 p.E1640K 1.000 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 147 0 0 82 34 29.3103 GPR158 0 genome.wustl.edu 37 10 25464572 25464572 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 25464572 25464572 G T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.223 p.A75S 0.948 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 64 0 0 27 17 38.6364 MIR938 0 genome.wustl.edu 37 10 29891217 29891217 + RNA SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 29891217 29891217 T C SNP MIR938 ENST00000401216 human ensembl 74_37 -1 known rna NULL NULL 0.039 - - - no_errors MIR938 HGNC ENSG00000216035 54 0 0 18 7 28 NRP1 0 genome.wustl.edu 37 10 33475257 33475257 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 33475257 33475257 C T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.2222 p.R741H 0.999 pirsf_Neuropilin,pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,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 NRP1 HGNC ENSG00000099250 104 0 0 38 21 35.5932 AGAP4 0 genome.wustl.edu 37 10 46321485 46321485 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 46321485 46321485 C T SNP AGAP4 ENST00000448048 human ensembl 74_37 -1 known missense c.1870 p.G624R 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP4 HGNC ENSG00000188234 41 0 0 8 20 71.4286 A1CF 0 genome.wustl.edu 37 10 52596039 52596039 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 52596039 52596039 C T SNP A1CF ENST00000282641 human ensembl 74_37 -1 known silent c.399 p.V133 0.993 pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors A1CF HGNC ENSG00000148584 106 0 0 57 30 34.4828 BICC1 0 genome.wustl.edu 37 10 60588642 60588642 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 60588642 60588642 C T SNP BICC1 ENST00000373886 human ensembl 74_37 +1 known silent c.2916 p.G972 0.995 NULL pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1 - no_errors BICC1 HGNC ENSG00000122870 97 0 0 34 16 32 CCDC6 0 genome.wustl.edu 37 10 61574410 61574410 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 61574410 61574410 C T SNP CCDC6 ENST00000263102 human ensembl 74_37 -1 known missense c.686 p.R229Q 1.000 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 79 0 0 33 26 44.0678 ANK3 0 genome.wustl.edu 37 10 61965576 61965576 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 61965576 61965576 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.1267 p.G423S 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 106 0 0 38 22 36.6667 HK1 0 genome.wustl.edu 37 10 71128991 71128991 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 71128991 71128991 A G SNP HK1 ENST00000448642 human ensembl 74_37 +1 known splice_site c.697-2 e8-2 1.000 - - - no_errors HK1 HGNC ENSG00000156515 63 0 0 30 13 30.2326 TBATA 0 genome.wustl.edu 37 10 72532314 72532314 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 72532314 72532314 G A SNP TBATA ENST00000299290 human ensembl 74_37 -1 known missense c.926 p.P309L 0.000 NULL NULL - no_errors TBATA HGNC ENSG00000166220 237 0 0 66 35 34.6535 SPOCK2 0 genome.wustl.edu 37 10 73848012 73848012 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 73848012 73848012 G A SNP SPOCK2 ENST00000317376 human ensembl 74_37 -1 known silent c.75 p.D25 0.757 NULL pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal_dom,superfamily_Thyroglobulin_1,smart_Kazal_dom,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK2 HGNC ENSG00000107742 42 0 0 16 3 15.7895 ITIH5 0 genome.wustl.edu 37 10 7657997 7657997 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 7657997 7657997 A G SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.887 p.V296A 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 160 0 0 54 20 27.027 TAF3 0 genome.wustl.edu 37 10 8005989 8005989 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 8005989 8005989 T C SNP TAF3 ENST00000344293 human ensembl 74_37 +1 known silent c.516 p.D172 1.000 NULL pfam_BTP,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_Histone-fold,smart_BTP,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors TAF3 HGNC ENSG00000165632 108 0 0 51 16 23.8806 GATA3 0 genome.wustl.edu 37 10 8100708 8100708 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 8100708 8100708 G A SNP GATA3 ENST00000379328 human ensembl 74_37 +1 known missense c.682 p.E228K 1.000 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 141 0 0 47 17 26.5625 BTAF1 0 genome.wustl.edu 37 10 93719750 93719750 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 93719750 93719750 C T SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.1102 p.R368C 1.000 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 137 1 0.724638 66 33 33.3333 PIK3AP1 0 genome.wustl.edu 37 10 98469729 98469729 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 98469729 98469729 C A SNP PIK3AP1 ENST00000339364 human ensembl 74_37 -1 known nonsense c.25 p.G9* 0.002 NULL superfamily_Ankyrin_rpt-contain_dom - no_errors PIK3AP1 HGNC ENSG00000155629 91 0 0 36 16 30.7692 GUCY1A2 0 genome.wustl.edu 37 11 106681137 106681137 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 106681137 106681137 G A SNP GUCY1A2 ENST00000282249 human ensembl 74_37 -1 known missense c.1274 p.P425L 1.000 pfam_Haem_no_assoc-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 108 0 0 69 9 11.5385 CADM1 0 genome.wustl.edu 37 11 115102133 115102133 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 115102133 115102133 C T SNP CADM1 ENST00000452722 human ensembl 74_37 -1 known missense c.502 p.A168T 0.999 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM1 HGNC ENSG00000182985 148 0 0 69 29 29.5918 APOA5 0 genome.wustl.edu 37 11 116660973 116660973 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 116660973 116660973 G A SNP APOA5 ENST00000227665 human ensembl 74_37 -1 known silent c.972 p.F324 0.026 NULL pfam_ApoA1_A4_E - no_errors APOA5 HGNC ENSG00000110243 123 0 0 34 11 24.4444 RNF214 0 genome.wustl.edu 37 11 117152789 117152789 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 117152789 117152789 C A SNP RNF214 ENST00000300650 human ensembl 74_37 +1 known silent c.1515 p.G505 0.995 NULL pfscan_Znf_RING - no_errors RNF214 HGNC ENSG00000167257 429 1 0.232558 148 79 34.8018 NLRX1 0 genome.wustl.edu 37 11 119042071 119042071 + RNA SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 119042071 119042071 A G SNP NLRX1 ENST00000468765 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors NLRX1 HGNC ENSG00000160703 64 0 0 17 4 19.0476 NLRX1 0 genome.wustl.edu 37 11 119053036 119053036 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 119053036 119053036 C A SNP NLRX1 ENST00000292199 human ensembl 74_37 +1 known missense c.2588 p.P863H 0.998 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRX1 HGNC ENSG00000160703 171 0 0 56 12 17.6471 C1QTNF5 0 genome.wustl.edu 37 11 119210226 119210226 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 119210226 119210226 C T SNP C1QTNF5 ENST00000445041 human ensembl 74_37 -1 known missense c.547 p.G183R 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 C1QTNF5 HGNC ENSG00000223953 130 0 0 52 31 37.3494 USP2 0 genome.wustl.edu 37 11 119243941 119243941 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 119243941 119243941 C T SNP USP2 ENST00000260187 human ensembl 74_37 -1 known missense c.250 p.D84N 0.605 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 233 0 0 70 40 36.3636 SORL1 0 genome.wustl.edu 37 11 121367679 121367679 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 121367679 121367679 G A SNP SORL1 ENST00000260197 human ensembl 74_37 +1 known missense c.860 p.R287Q 0.983 smart_VPS10 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 106 0 0 46 22 32.3529 BSX 0 genome.wustl.edu 37 11 122849972 122849972 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 122849972 122849972 C T SNP BSX ENST00000343035 human ensembl 74_37 -1 known silent c.456 p.T152 0.797 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BSX HGNC ENSG00000188909 219 0 0 48 23 32.3944 MUC5B 0 genome.wustl.edu 37 11 1269398 1269398 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 1269398 1269398 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.11297 p.T3766I 0.002 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 32 0 0 23 2 8 TEAD1 0 genome.wustl.edu 37 11 12785940 12785940 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 12785940 12785940 G A SNP TEAD1 ENST00000361905 human ensembl 74_37 +1 known missense c.116 p.G39E 1.000 pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS pfam_TEA/ATTS,smart_TEA/ATTS,pirsf_TEF,pfscan_TEA/ATTS,prints_TEA/ATTS - no_errors TEAD1 HGNC ENSG00000187079 128 0 0 78 8 9.30233 MUC5B 0 genome.wustl.edu 37 11 1280978 1280978 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 1280978 1280978 C T SNP MUC5B ENST00000527802 human ensembl 74_37 +1 putative rna NULL NULL 0.001 - - - no_errors MUC5B HGNC ENSG00000117983 124 0 0 25 12 32.4324 ST14 0 genome.wustl.edu 37 11 130078396 130078396 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 130078396 130078396 C T SNP ST14 ENST00000278742 human ensembl 74_37 +1 known missense c.2086 p.R696C 1.000 pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Peptidase_S1A_matripase,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_CUB_dom,pfam_SEA_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_LDrepeatLR_classA_rpt,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors ST14 HGNC ENSG00000149418 98 0 0 28 12 30 OPCML 0 genome.wustl.edu 37 11 132399028 132399028 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 132399028 132399028 G A SNP OPCML ENST00000541867 human ensembl 74_37 -1 known silent c.453 p.S151 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 105 0 0 36 14 28 NCAPD3 0 genome.wustl.edu 37 11 134023435 134023435 + RNA SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 134023435 134023435 C A SNP NCAPD3 ENST00000526787 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors NCAPD3 HGNC ENSG00000151503 10 0 0 10 4 28.5714 COPB1 0 genome.wustl.edu 37 11 14501184 14501184 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 14501184 14501184 C T SNP COPB1 ENST00000249923 human ensembl 74_37 -1 known missense c.1289 p.R430H 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 pfam_Coatomer_bsu_C,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_COPB1 - no_errors COPB1 HGNC ENSG00000129083 93 0 0 57 32 35.9551 CTSD 0 genome.wustl.edu 37 11 1778593 1778593 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 1778593 1778593 T C SNP CTSD ENST00000236671 human ensembl 74_37 -1 known missense c.665 p.K222R 1.000 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 82 0 0 20 10 33.3333 SLC6A5 0 genome.wustl.edu 37 11 20676537 20676537 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 20676537 20676537 G A SNP SLC6A5 ENST00000528440 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SLC6A5 HGNC ENSG00000165970 35 0 0 23 15 39.4737 LUZP2 0 genome.wustl.edu 37 11 24998139 24998139 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 24998139 24998139 G A SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.525 p.A175 0.968 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 67 0 0 30 20 40 OSBPL5 0 genome.wustl.edu 37 11 3115027 3115027 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 3115027 3115027 C T SNP OSBPL5 ENST00000263650 human ensembl 74_37 -1 known silent c.1758 p.S586 0.494 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL5 HGNC ENSG00000021762 48 0 0 17 9 34.6154 DCDC1 0 genome.wustl.edu 37 11 31327259 31327259 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 31327259 31327259 G A SNP DCDC1 ENST00000452803 human ensembl 74_37 -1 known silent c.657 p.D219 0.931 pfscan_Doublecortin_dom pfscan_Doublecortin_dom - no_errors DCDC1 HGNC ENSG00000170959 179 0 0 72 44 37.931 HIPK3 0 genome.wustl.edu 37 11 33373380 33373380 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 33373380 33373380 G A SNP HIPK3 ENST00000303296 human ensembl 74_37 +1 known missense c.3034 p.A1012T 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 37 0 0 23 5 17.8571 CHRNA10 0 genome.wustl.edu 37 11 3688948 3688948 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 3688948 3688948 G A SNP CHRNA10 ENST00000250699 human ensembl 74_37 -1 known missense c.409 p.R137C 0.985 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_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_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA10 HGNC ENSG00000129749 19 0 0 5 2 28.5714 B4GALNT4 0 genome.wustl.edu 37 11 379551 379551 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 379551 379551 C T SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.2338 p.R780W 1.000 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 27 0 0 4 5 55.5556 ALX4 0 genome.wustl.edu 37 11 44331484 44331484 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 44331484 44331484 G A SNP ALX4 ENST00000329255 human ensembl 74_37 -1 known silent c.129 p.F43 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 20 0 0 6 7 53.8462 LRP4 0 genome.wustl.edu 37 11 46907918 46907918 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 46907918 46907918 A G SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known silent c.2382 p.T794 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_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_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 18 0 0 9 4 30.7692 KBTBD4 0 genome.wustl.edu 37 11 47598987 47598987 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 47598987 47598987 G A SNP KBTBD4 ENST00000430070 human ensembl 74_37 -1 known missense c.613 p.R205C 0.940 pfam_BACK,smart_BACK pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors KBTBD4 HGNC ENSG00000123444 185 0 0 71 27 27.551 TRIM48 0 genome.wustl.edu 37 11 55035844 55035844 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 132 0 0 89 12 11.8812 OR52D1 0 genome.wustl.edu 37 11 5510100 5510100 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 5510100 5510100 A G SNP OR52D1 ENST00000322641 human ensembl 74_37 +1 known missense c.164 p.D55G 0.018 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 OR52D1 HGNC ENSG00000181609 177 0 0 64 19 22.8916 OR5L1 0 genome.wustl.edu 37 11 55579083 55579083 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 55579083 55579083 A G SNP OR5L1 ENST00000333973 human ensembl 74_37 +1 known silent c.141 p.A47 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5L1 HGNC ENSG00000186117 427 1 0.233645 172 108 38.5714 OR8I2 0 genome.wustl.edu 37 11 55861366 55861366 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 55861366 55861366 G A SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.583 p.E195K 0.462 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 141 0 0 109 38 25.8503 DTX4 0 genome.wustl.edu 37 11 58949756 58949756 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 58949756 58949756 C T SNP DTX4 ENST00000227451 human ensembl 74_37 +1 known silent c.756 p.T252 0.000 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 58 0 0 18 10 35.7143 PHRF1 0 genome.wustl.edu 37 11 605238 605238 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 605238 605238 G A SNP PHRF1 ENST00000264555 human ensembl 74_37 +1 known silent c.1272 p.A424 0.962 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 229 0 0 45 14 23.7288 AHNAK 0 genome.wustl.edu 37 11 62291883 62291883 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 62291883 62291883 C T SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.10006 p.V3336I 0.154 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 86 0 0 45 27 37.5 TUT1 0 genome.wustl.edu 37 11 62343652 62343652 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 62343652 62343652 G T SNP TUT1 ENST00000308436 human ensembl 74_37 -1 known silent c.1653 p.S551 0.999 pfam_PAP_assoc pfam_PAP_assoc,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TUT1 HGNC ENSG00000149016 46 0 0 20 8 28.5714 PRKCDBP 0 genome.wustl.edu 37 11 6340571 6340571 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 6340571 6340571 G A SNP PRKCDBP ENST00000303927 human ensembl 74_37 -1 known missense c.608 p.P203L 0.000 NULL NULL - no_errors PRKCDBP HGNC ENSG00000170955 112 0 0 51 31 37.8049 NRXN2 0 genome.wustl.edu 37 11 64410147 64410147 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 64410147 64410147 C A SNP NRXN2 ENST00000301894 human ensembl 74_37 -1 novel missense c.129 p.L43F 0.941 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 26 0 0 3 5 62.5 ATG2A 0 genome.wustl.edu 37 11 64681811 64681811 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 64681811 64681811 T C SNP ATG2A ENST00000421419 human ensembl 74_37 -1 known silent c.333 p.P111 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2A HGNC ENSG00000110046 33 0 0 5 5 50 PPP2R5B 0 genome.wustl.edu 37 11 64699315 64699315 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 64699315 64699315 G A SNP PPP2R5B ENST00000164133 human ensembl 74_37 +1 known missense c.1091 p.R364H 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5B HGNC ENSG00000068971 152 0 0 47 25 34.7222 EFEMP2 0 genome.wustl.edu 37 11 65637701 65637701 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 65637701 65637701 G A SNP EFEMP2 ENST00000307998 human ensembl 74_37 -1 known silent c.498 p.D166 0.787 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,superfamily_TIL_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,prints_Thrombomodulin - no_errors EFEMP2 HGNC ENSG00000172638 175 0 0 26 19 42.2222 ENSG00000250105 0 genome.wustl.edu 37 11 66326640 66326640 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 66326640 66326640 C T SNP ENSG00000250105 ENST00000504911 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTD-3074O7.2 Clone_based_vega_gene ENSG00000250105 57 0 0 10 9 47.3684 DCHS1 0 genome.wustl.edu 37 11 6644405 6644405 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 6644405 6644405 G A SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known silent c.8502 p.H2834 0.104 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 17 0 0 7 5 41.6667 KDM2A 0 genome.wustl.edu 37 11 66999252 66999252 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 66999252 66999252 C T SNP KDM2A ENST00000529006 human ensembl 74_37 +1 known missense c.1300 p.H434Y 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 107 0 0 53 19 26.3889 SSH3 0 genome.wustl.edu 37 11 67076990 67076990 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 67076990 67076990 C T SNP SSH3 ENST00000308127 human ensembl 74_37 +1 known missense c.1184 p.T395M 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 SSH3 HGNC ENSG00000172830 66 0 0 38 17 30.9091 DEAF1 0 genome.wustl.edu 37 11 674759 674759 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 674759 674759 G A SNP DEAF1 ENST00000382409 human ensembl 74_37 -1 known missense c.1280 p.A427V 0.991 NULL pfam_SAND_dom,pfam_Znf_MYND,superfamily_SAND_dom-like,smart_SAND_dom,pfscan_Znf_MYND,pfscan_SAND_dom - no_errors DEAF1 HGNC ENSG00000177030 190 1 0.52356 67 38 36.1905 CPT1A 0 genome.wustl.edu 37 11 68579964 68579964 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 68579964 68579964 G A SNP CPT1A ENST00000265641 human ensembl 74_37 -1 known silent c.222 p.Y74 0.001 NULL pfam_Carn_acyl_trans - no_errors CPT1A HGNC ENSG00000110090 116 0 0 52 34 39.5349 P2RY2 0 genome.wustl.edu 37 11 72945613 72945613 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 72945613 72945613 C T SNP P2RY2 ENST00000311131 human ensembl 74_37 +1 known nonsense c.409 p.R137* 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y2_rcpt,prints_GPCR_Rhodpsn,prints_P2Y4_rcpt - no_errors P2RY2 HGNC ENSG00000175591 214 0 0 83 9 9.78261 ARHGEF17 0 genome.wustl.edu 37 11 73073593 73073593 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 73073593 73073593 C T SNP ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known missense c.4810 p.P1604S 0.048 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 55 0 0 21 7 25 C2CD3 0 genome.wustl.edu 37 11 73760408 73760408 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 73760408 73760408 G A SNP C2CD3 ENST00000334126 human ensembl 74_37 -1 known missense c.5335 p.R1779C 0.964 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom - no_errors C2CD3 HGNC ENSG00000168014 80 0 0 33 13 28.2609 PIDD 0 genome.wustl.edu 37 11 802748 802748 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 802748 802748 C T SNP PIDD ENST00000347755 human ensembl 74_37 -1 known missense c.853 p.A285T 0.000 smart_Leu-rich_rpt_typical-subtyp 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 43 0 0 6 5 45.4545 DLG2 0 genome.wustl.edu 37 11 83673939 83673939 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 83673939 83673939 G A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known silent c.1329 p.D443 0.996 pfam_PDZ_assoc,pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 221 0 0 99 45 31.25 DLG2 0 genome.wustl.edu 37 11 84996295 84996295 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 84996295 84996295 G A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.155 p.P52L 0.012 pirsf_M-assoc_guanylate_kinase pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 179 0 0 97 38 28.1481 FZD4 0 genome.wustl.edu 37 11 86662986 86662986 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 86662986 86662986 A G SNP FZD4 ENST00000531380 human ensembl 74_37 -1 known missense c.812 p.V271A 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD4 HGNC ENSG00000174804 56 0 0 25 16 39.0244 TRIM49 0 genome.wustl.edu 37 11 89531764 89531764 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 89531764 89531764 T C SNP TRIM49 ENST00000329758 human ensembl 74_37 -1 known missense c.893 p.N298S 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49 HGNC ENSG00000168930 35 0 0 32 10 23.8095 FAT3 0 genome.wustl.edu 37 11 92257897 92257897 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 92257897 92257897 C A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.3390 p.S1130 0.914 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 72 0 0 24 25 51.0204 TAF1D 0 genome.wustl.edu 37 11 93463528 93463528 + RNA SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 93463528 93463528 C A SNP TAF1D ENST00000546088 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TAF1D HGNC ENSG00000166012 19 0 0 15 4 21.0526 PANX1 0 genome.wustl.edu 37 11 93912967 93912967 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 93912967 93912967 A G SNP PANX1 ENST00000227638 human ensembl 74_37 +1 known missense c.745 p.K249E 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX1 HGNC ENSG00000110218 208 0 0 84 58 40.8451 CLEC2B 0 genome.wustl.edu 37 12 10010106 10010106 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 10010106 10010106 G A SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known silent c.204 p.A68 0.000 pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 61 0 0 39 5 11.3636 GOLGA2P5 0 genome.wustl.edu 37 12 100551024 100551024 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 100551024 100551024 G A SNP GOLGA2P5 ENST00000397112 human ensembl 74_37 -1 known rna NULL NULL 0.974 - - - no_errors GOLGA2B Clone_based_vega_gene ENSG00000238105 134 0 0 50 30 37.5 GNPTAB 0 genome.wustl.edu 37 12 102161840 102161840 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 102161840 102161840 G A SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known silent c.1383 p.C461 1.000 pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pfscan_Notch_dom 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 96 0 0 67 24 26.3736 SLC41A2 0 genome.wustl.edu 37 12 105198855 105198855 + RNA SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 105198855 105198855 A G SNP SLC41A2 ENST00000549713 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC41A2 HGNC ENSG00000136052 225 0 0 104 53 33.758 ACACB 0 genome.wustl.edu 37 12 109637206 109637206 + Splice_Site SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 109637206 109637206 G A SNP ACACB ENST00000338432 human ensembl 74_37 +1 known splice_site c.2628-1 e17-1 1.000 - - - no_errors ACACB HGNC ENSG00000076555 136 0 0 65 14 17.7215 TRPV4 0 genome.wustl.edu 37 12 110246248 110246248 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 110246248 110246248 G T SNP TRPV4 ENST00000261740 human ensembl 74_37 -1 known missense c.412 p.P138T 0.856 prints_TRPV4_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 108 0 0 18 19 51.3514 ARPC3 0 genome.wustl.edu 37 12 110873942 110873942 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 110873942 110873942 G A SNP ARPC3 ENST00000228825 human ensembl 74_37 -1 known silent c.447 p.F149 1.000 pfam_ARP2/3_p21-Arc,superfamily_ARP2/3_p21-Arc,pirsf_ARP2/3_p21-Arc pfam_ARP2/3_p21-Arc,superfamily_ARP2/3_p21-Arc,pirsf_ARP2/3_p21-Arc - no_errors ARPC3 HGNC ENSG00000111229 293 0 0 110 63 36.4162 TAS2R20 0 genome.wustl.edu 37 12 11149732 11149732 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 11149732 11149732 G A SNP TAS2R20 ENST00000538986 human ensembl 74_37 -1 known missense c.743 p.S248L 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R20 HGNC ENSG00000255837 166 0 0 118 29 19.7279 CUX2 0 genome.wustl.edu 37 12 111758076 111758076 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 111758076 111758076 G A SNP CUX2 ENST00000261726 human ensembl 74_37 +1 known missense c.2263 p.A755T 0.389 NULL 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 52 0 0 11 4 26.6667 ATXN2 0 genome.wustl.edu 37 12 111893938 111893938 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 111893938 111893938 C T SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known silent c.3639 p.S1213 0.805 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 385 0 0 161 17 9.55056 WSB2 0 genome.wustl.edu 37 12 118480755 118480755 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 118480755 118480755 G A SNP WSB2 ENST00000315436 human ensembl 74_37 -1 known silent c.450 p.S150 0.005 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SOCS_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WSB2 HGNC ENSG00000176871 181 0 0 68 27 28.4211 ACADS 0 genome.wustl.edu 37 12 121163699 121163699 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 121163699 121163699 C T SNP ACADS ENST00000242592 human ensembl 74_37 +1 known missense c.11 p.A4V 0.008 NULL 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 ACADS HGNC ENSG00000122971 21 0 0 2 2 50 ORAI1 0 genome.wustl.edu 37 12 122079195 122079195 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 122079195 122079195 G A SNP ORAI1 ENST00000330079 human ensembl 74_37 +1 known silent c.558 p.T186 0.729 pfam_CRAC_channel pfam_CRAC_channel - no_errors ORAI1 HGNC ENSG00000182500 104 0 0 29 12 29.2683 LRRC43 0 genome.wustl.edu 37 12 122667814 122667814 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 122667814 122667814 C T SNP LRRC43 ENST00000339777 human ensembl 74_37 +1 known silent c.123 p.R41 0.820 NULL NULL - no_errors LRRC43 HGNC ENSG00000158113 36 0 0 5 4 44.4444 DNAH10 0 genome.wustl.edu 37 12 124359795 124359795 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 124359795 124359795 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.7602 p.T2534 0.003 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase 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 20 0 0 16 4 20 DUSP16 0 genome.wustl.edu 37 12 12630269 12630269 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 12630269 12630269 A G SNP DUSP16 ENST00000228862 human ensembl 74_37 -1 known missense c.1496 p.L499P 0.000 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP16 HGNC ENSG00000111266 132 0 0 62 37 37.3737 EP400 0 genome.wustl.edu 37 12 132547129 132547129 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 132547129 132547129 G A SNP EP400 ENST00000333577 human ensembl 74_37 +1 known silent c.8325 p.Q2775 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 152 0 0 44 6 12 DDX51 0 genome.wustl.edu 37 12 132625024 132625024 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 132625024 132625024 G A SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known silent c.1617 p.Y539 0.004 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C 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 177 0 0 46 19 29.2308 GOLGA3 0 genome.wustl.edu 37 12 133360753 133360753 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 133360753 133360753 G A SNP GOLGA3 ENST00000204726 human ensembl 74_37 -1 known silent c.3264 p.D1088 0.999 NULL superfamily_Prefoldin - no_errors GOLGA3 HGNC ENSG00000090615 78 0 0 20 15 42.8571 ABCC9 0 genome.wustl.edu 37 12 21958204 21958204 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 21958204 21958204 G A SNP ABCC9 ENST00000261201 human ensembl 74_37 -1 known silent c.4554 p.V1518 1.000 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,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC9 HGNC ENSG00000069431 84 0 0 36 18 33.3333 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_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 25 0 0 19 9 32.1429 ASUN 0 genome.wustl.edu 37 12 27077371 27077371 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 27077371 27077371 G A SNP ASUN ENST00000261191 human ensembl 74_37 -1 known missense c.721 p.R241W 1.000 pfam_Cell_cycle_regulator_Mat89Bb pfam_Cell_cycle_regulator_Mat89Bb - no_errors ASUN HGNC ENSG00000064102 160 0 0 63 28 30.7692 FGFR1OP2 0 genome.wustl.edu 37 12 27113541 27113541 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 27113541 27113541 C T SNP FGFR1OP2 ENST00000229395 human ensembl 74_37 +1 known missense c.490 p.H164Y 1.000 superfamily_DNA-bd_dom_put pfam_SIKE,superfamily_DNA-bd_dom_put - no_errors FGFR1OP2 HGNC ENSG00000111790 111 0 0 49 11 18.3333 CACNA1C 0 genome.wustl.edu 37 12 2714868 2714868 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 2714868 2714868 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.3072 p.V1024 0.015 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 84 0 0 31 21 40.3846 DENND5B 0 genome.wustl.edu 37 12 31632813 31632813 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 31632813 31632813 T C SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.719 p.K240R 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_Run,pfam_uDENN_dom,pfam_dDENN_dom,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_Run,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_PLAT/LH2_dom,pfscan_Run - no_errors DENND5B HGNC ENSG00000170456 87 0 0 36 31 46.2687 BICD1 0 genome.wustl.edu 37 12 32481022 32481022 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 32481022 32481022 C T SNP BICD1 ENST00000281474 human ensembl 74_37 +1 known missense c.1633 p.R545C 1.000 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc,superfamily_SPOC_like_C_dom - no_errors BICD1 HGNC ENSG00000151746 155 0 0 56 25 30.8642 PRMT8 0 genome.wustl.edu 37 12 3678670 3678670 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 3678670 3678670 C T SNP PRMT8 ENST00000382622 human ensembl 74_37 +1 known missense c.652 p.R218W 1.000 pfam_Arg_MeTrfase pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_Arg_MeTrfase,pfam_Methyltransf_11,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors PRMT8 HGNC ENSG00000111218 169 0 0 51 26 33.7662 AMIGO2 0 genome.wustl.edu 37 12 47471413 47471413 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 47471413 47471413 C T SNP AMIGO2 ENST00000266581 human ensembl 74_37 -1 known missense c.1373 p.R458Q 0.965 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMIGO2 HGNC ENSG00000139211 122 0 0 57 24 29.6296 COL2A1 0 genome.wustl.edu 37 12 48378832 48378832 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 48378832 48378832 C A SNP COL2A1 ENST00000380518 human ensembl 74_37 -1 known missense c.1779 p.Q593H 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL2A1 HGNC ENSG00000139219 54 0 0 22 9 29.0323 KMT2D 0 genome.wustl.edu 37 12 49418643 49418643 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 49418643 49418643 C T SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.15871 p.E5291K 1.000 pfam_FYrich_C,smart_FYrich_C pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 33 0 0 6 5 45.4545 LMBR1L 0 genome.wustl.edu 37 12 49491882 49491882 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 49491882 49491882 G A SNP LMBR1L ENST00000267102 human ensembl 74_37 -1 known missense c.1247 p.T416I 1.000 pfam_LMBR1-like_membr_prot pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt - no_errors LMBR1L HGNC ENSG00000139636 357 0 0 85 42 33.0709 DIP2B 0 genome.wustl.edu 37 12 51138528 51138528 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 51138528 51138528 C T SNP DIP2B ENST00000301180 human ensembl 74_37 +1 known missense c.4637 p.P1546L 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2B HGNC ENSG00000066084 95 0 0 54 28 34.1463 KCNA5 0 genome.wustl.edu 37 12 5154173 5154173 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 5154173 5154173 C T SNP KCNA5 ENST00000252321 human ensembl 74_37 +1 known missense c.860 p.A287V 0.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.5,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA5 HGNC ENSG00000130037 148 0 0 55 27 32.9268 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 151 1 0.657895 28 36 56.25 HOXC12 0 genome.wustl.edu 37 12 54349039 54349039 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 54349039 54349039 G A SNP HOXC12 ENST00000243103 human ensembl 74_37 +1 known missense c.326 p.R109H 0.999 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXC12 HGNC ENSG00000123407 22 0 0 4 4 50 ESYT1 0 genome.wustl.edu 37 12 56536156 56536156 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 56536156 56536156 T C SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known missense c.2710 p.W904R 0.987 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 109 0 0 39 31 44.2857 MIP 0 genome.wustl.edu 37 12 56847528 56847528 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 56847528 56847528 C T SNP MIP ENST00000257979 human ensembl 74_37 -1 known silent c.372 p.A124 1.000 pfam_MIP,superfamily_Aquaporin-like,tigrfam_MIP pfam_MIP,superfamily_Aquaporin-like,prints_MIP,tigrfam_MIP - no_errors MIP HGNC ENSG00000135517 40 0 0 8 12 60 GPR182 0 genome.wustl.edu 37 12 57389247 57389247 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 57389247 57389247 C T SNP GPR182 ENST00000300098 human ensembl 74_37 +1 known missense c.254 p.A85V 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_G10D_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors GPR182 HGNC ENSG00000166856 218 0 0 107 13 10.8333 ARHGAP9 0 genome.wustl.edu 37 12 57869329 57869329 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 57869329 57869329 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.1438 p.E480K 0.972 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 39 0 0 8 7 46.6667 PLEKHG6 0 genome.wustl.edu 37 12 6421413 6421413 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 6421413 6421413 A C SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known silent c.21 p.P7 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 126 0 0 55 24 30.3797 IFFO1 0 genome.wustl.edu 37 12 6660145 6660145 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 6660145 6660145 G A SNP IFFO1 ENST00000356896 human ensembl 74_37 -1 known missense c.796 p.R266W 0.987 NULL NULL - no_errors IFFO1 HGNC ENSG00000010295 218 1 0.456621 54 39 41.9355 CD4 0 genome.wustl.edu 37 12 6923379 6923379 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 6923379 6923379 A G SNP CD4 ENST00000011653 human ensembl 74_37 +1 known missense c.286 p.I96V 0.989 pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_CD4-extracel,pfam_Ig_C2-set,pfam_Tcell_CD4_Cterm,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,pfam_NK_rcpt_2B4_Ig_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom,prints_Ag_CD4 - no_errors CD4 HGNC ENSG00000010610 171 0 0 69 35 33.6538 PTPRB 0 genome.wustl.edu 37 12 70948992 70948992 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 70948992 70948992 G A SNP PTPRB ENST00000334414 human ensembl 74_37 -1 known silent c.5091 p.S1697 0.985 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 98 0 0 32 28 46.6667 C1R 0 genome.wustl.edu 37 12 7244123 7244123 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 7244123 7244123 C A SNP C1R ENST00000543362 human ensembl 74_37 -1 known silent c.156 p.T52 0.002 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors C1R HGNC ENSG00000159403 30 0 0 8 3 27.2727 CCER1 0 genome.wustl.edu 37 12 91348087 91348087 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 91348087 91348087 G A SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known missense c.433 p.R145C 0.965 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 46 0 0 35 10 22.2222 WNK1 0 genome.wustl.edu 37 12 992975 992975 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 992975 992975 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.5193 p.A1731 0.060 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 83 0 0 49 18 26.8657 KLRF1 0 genome.wustl.edu 37 12 9994990 9994990 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 9994990 9994990 T C SNP KLRF1 ENST00000279544 human ensembl 74_37 +1 known missense c.548 p.M183T 0.000 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 KLRF1 HGNC ENSG00000150045 145 0 0 54 31 36.4706 PCCA 0 genome.wustl.edu 37 13 100953844 100953844 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 100953844 100953844 G A SNP PCCA ENST00000376285 human ensembl 74_37 +1 known missense c.1196 p.R399Q 1.000 pfam_Biotin_COase_C,superfamily_Rudment_hybrid_motif,smart_Biotin_COase_C,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 174 0 0 67 40 37.3832 MYO16 0 genome.wustl.edu 37 13 109661393 109661393 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 109661393 109661393 T C SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.2525 p.F842S 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 85 0 0 51 21 29.1667 F10 0 genome.wustl.edu 37 13 113795330 113795330 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 113795330 113795330 C A SNP F10 ENST00000375559 human ensembl 74_37 +1 known silent c.468 p.T156 0.021 pirsf_Pept_S1A_FX,smart_EG-like_dom pirsf_Pept_S1A_FX,pfam_Peptidase_S1,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Trypsin-like_Pept_dom,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Peptidase_S1,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1 - no_errors F10 HGNC ENSG00000126218 126 0 0 43 19 30.6452 TMCO3 0 genome.wustl.edu 37 13 114202753 114202753 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 114202753 114202753 G A SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.1906 p.V636I 0.999 pfam_Cation/H_exchanger pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 139 0 0 37 24 39.3443 CDC16 0 genome.wustl.edu 37 13 115028389 115028389 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 115028389 115028389 C T SNP CDC16 ENST00000356221 human ensembl 74_37 +1 known missense c.1412 p.A471V 1.000 pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC16 HGNC ENSG00000130177 179 0 0 68 35 33.9806 XPO4 0 genome.wustl.edu 37 13 21358038 21358038 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 21358038 21358038 G A SNP XPO4 ENST00000255305 human ensembl 74_37 -1 known silent c.3279 p.V1093 0.721 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 121 0 0 63 32 33.6842 PAN3 0 genome.wustl.edu 37 13 28855473 28855473 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 28855473 28855473 T A SNP PAN3 ENST00000380958 human ensembl 74_37 +1 known missense c.2341 p.F781I 1.000 NULL superfamily_Kinase-like_dom,smart_Znf_CCCH,pfscan_Prot_kinase_dom - no_errors PAN3 HGNC ENSG00000152520 83 0 0 27 14 34.1463 NBEA 0 genome.wustl.edu 37 13 36202305 36202305 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 36202305 36202305 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.7537 p.R2513C 1.000 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom 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 43 0 0 10 6 37.5 FREM2 0 genome.wustl.edu 37 13 39448644 39448644 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 39448644 39448644 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known silent c.8202 p.R2734 0.999 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 156 0 0 45 25 35.7143 AKAP11 0 genome.wustl.edu 37 13 42874908 42874908 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 42874908 42874908 T G SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known missense c.2026 p.C676G 0.000 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 108 0 0 88 13 12.8713 MLNR 0 genome.wustl.edu 37 13 49795274 49795274 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 49795274 49795274 C T SNP MLNR ENST00000218721 human ensembl 74_37 +1 known silent c.801 p.Y267 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GHS-R - no_errors MLNR HGNC ENSG00000102539 140 0 0 26 22 45.8333 PCDH17 0 genome.wustl.edu 37 13 58208087 58208087 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 58208087 58208087 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known silent c.1407 p.P469 0.036 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 PCDH17 HGNC ENSG00000118946 71 0 0 23 13 36.1111 PCDH9 0 genome.wustl.edu 37 13 67802376 67802376 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 67802376 67802376 A C SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.197 p.L66R 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 131 0 0 60 26 30.2326 COMMD6 0 genome.wustl.edu 37 13 76111694 76111694 + RNA SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 76111694 76111694 G C SNP COMMD6 ENST00000471682 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COMMD6 HGNC ENSG00000188243 27 0 0 5 12 70.5882 MYCBP2 0 genome.wustl.edu 37 13 77672167 77672167 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 77672167 77672167 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known missense c.9122 p.H3041R 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 84 0 0 55 40 42.1053 MYCBP2 0 genome.wustl.edu 37 13 77755995 77755995 + Silent SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 77755995 77755995 A T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.4782 p.A1594 1.000 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 120 0 0 55 27 32.9268 GPC5 0 genome.wustl.edu 37 13 92560303 92560303 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 92560303 92560303 G C SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known missense c.1393 p.V465L 0.964 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 76 0 0 44 20 31.25 IPO5 0 genome.wustl.edu 37 13 98652834 98652834 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 98652834 98652834 G T SNP IPO5 ENST00000261574 human ensembl 74_37 +1 known missense c.1097 p.C366F 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold,pfscan_Importin-beta_N - no_errors IPO5 HGNC ENSG00000065150 144 0 0 30 34 53.125 PPP2R5C 0 genome.wustl.edu 37 14 102368059 102368059 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 102368059 102368059 G A SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known missense c.949 p.V317M 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 141 0 0 43 29 40.2778 XRCC3 0 genome.wustl.edu 37 14 104166937 104166937 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 104166937 104166937 C T SNP XRCC3 ENST00000555451 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors XRCC3 HGNC ENSG00000126215 41 0 0 19 7 26.9231 AHNAK2 0 genome.wustl.edu 37 14 105410411 105410411 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 105410411 105410411 C T SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.11377 p.D3793N 0.001 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 685 0 0 198 114 36.5385 CDCA4 0 genome.wustl.edu 37 14 105478029 105478029 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 105478029 105478029 G A SNP CDCA4 ENST00000336219 human ensembl 74_37 -1 known missense c.238 p.R80C 0.999 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 86 0 0 21 18 46.1538 PACS2 0 genome.wustl.edu 37 14 105849643 105849643 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 105849643 105849643 G A SNP PACS2 ENST00000551743 human ensembl 74_37 +1 putative missense c.103 p.G35S 0.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 164 0 0 29 25 46.2963 OR4K15 0 genome.wustl.edu 37 14 20444431 20444431 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 20444431 20444431 C T SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known missense c.754 p.R252C 0.005 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 OR4K15 HGNC ENSG00000169488 166 1 0.598802 99 44 30.7692 PARP2 0 genome.wustl.edu 37 14 20822321 20822321 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 20822321 20822321 G T SNP PARP2 ENST00000250416 human ensembl 74_37 +1 known missense c.717 p.Q239H 0.998 pfam_Poly(ADP-ribose)pol_reg_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,pfscan_Poly(ADP-ribose)pol_reg_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Poly(ADP-ribose)pol_reg_dom,pfam_WGR_domain,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_WGR_domain,smart_WGR_domain,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP2 HGNC ENSG00000129484 162 0 0 75 37 33.0357 TEP1 0 genome.wustl.edu 37 14 20851686 20851686 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 20851686 20851686 C T SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known silent c.3828 p.G1276 0.986 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase 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 105 0 0 32 11 25.5814 PSMB5 0 genome.wustl.edu 37 14 23495375 23495375 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 23495375 23495375 G A SNP PSMB5 ENST00000361611 human ensembl 74_37 -1 known missense c.715 p.R239W 1.000 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB5 HGNC ENSG00000100804 287 0 0 72 39 35.1351 MYH6 0 genome.wustl.edu 37 14 23855198 23855198 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 23855198 23855198 C T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.5102 p.R1701Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 130 0 0 32 27 45.7627 JPH4 0 genome.wustl.edu 37 14 24045100 24045100 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 24045100 24045100 G A SNP JPH4 ENST00000356300 human ensembl 74_37 -1 known silent c.945 p.H315 1.000 pfam_MORN,smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH4 HGNC ENSG00000092051 38 0 0 10 3 23.0769 NYNRIN 0 genome.wustl.edu 37 14 24882594 24882594 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 24882594 24882594 C T SNP NYNRIN ENST00000382554 human ensembl 74_37 +1 known silent c.2817 p.T939 0.997 pfam_RNase_Zc3h12 pfam_RNase_Zc3h12,superfamily_RNaseH-like_dom,pfscan_Integrase_cat-core - no_errors NYNRIN HGNC ENSG00000205978 47 0 0 13 13 50 ENSG00000258558 0 genome.wustl.edu 37 14 31204183 31204183 + RNA SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 31204183 31204183 A G SNP ENSG00000258558 ENST00000554665 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-159L20.2 Clone_based_vega_gene ENSG00000258558 10 0 0 6 2 25 HECTD1 0 genome.wustl.edu 37 14 31574621 31574621 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 31574621 31574621 G A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.7367 p.T2456M 1.000 pfam_HECT,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 237 0 0 137 47 25.5435 HECTD1 0 genome.wustl.edu 37 14 31613392 31613392 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 31613392 31613392 C A SNP HECTD1 ENST00000399332 human ensembl 74_37 -1 known missense c.2703 p.K901N 1.000 superfamily_ARM-type_fold 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 41 0 0 36 18 33.3333 INSM2 0 genome.wustl.edu 37 14 36003662 36003662 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 36003662 36003662 G A SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known silent c.204 p.A68 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 26 0 0 8 7 46.6667 INSM2 0 genome.wustl.edu 37 14 36003715 36003715 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 36003715 36003715 C T SNP INSM2 ENST00000307169 human ensembl 74_37 +1 known missense c.257 p.T86M 0.003 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors INSM2 HGNC ENSG00000168348 16 0 0 2 3 60 BRMS1L 0 genome.wustl.edu 37 14 36334967 36334967 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 36334967 36334967 C T SNP BRMS1L ENST00000216807 human ensembl 74_37 +1 known missense c.727 p.P243S 1.000 NULL pfam_Sds3 - no_errors BRMS1L HGNC ENSG00000100916 90 0 0 35 30 46.1538 PAX9 0 genome.wustl.edu 37 14 37145597 37145597 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 37145597 37145597 G A SNP PAX9 ENST00000361487 human ensembl 74_37 +1 known silent c.966 p.A322 0.045 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX9 HGNC ENSG00000198807 184 0 0 102 17 14.2857 KTN1 0 genome.wustl.edu 37 14 56101252 56101252 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 56101252 56101252 C T SNP KTN1 ENST00000395309 human ensembl 74_37 +1 known missense c.1337 p.A446V 0.999 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 65 0 0 30 17 36.1702 GPR135 0 genome.wustl.edu 37 14 59931390 59931390 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 59931390 59931390 G A SNP GPR135 ENST00000395116 human ensembl 74_37 -1 known silent c.555 p.A185 0.969 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR135 HGNC ENSG00000181619 25 0 0 9 7 43.75 SYNE2 0 genome.wustl.edu 37 14 64653226 64653226 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 64653226 64653226 G A SNP SYNE2 ENST00000358025 human ensembl 74_37 +1 known missense c.17641 p.V5881M 0.036 smart_Spectrin/alpha-actinin 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 297 1 0.33557 110 65 37.1429 SPTB 0 genome.wustl.edu 37 14 65239523 65239523 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 65239523 65239523 G A SNP SPTB ENST00000389722 human ensembl 74_37 -1 known silent c.5328 p.N1776 0.993 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 105 0 0 34 28 45.1613 MAX 0 genome.wustl.edu 37 14 65543322 65543322 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 65543322 65543322 C T SNP MAX ENST00000358664 human ensembl 74_37 -1 known missense c.355 p.D119N 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MAX HGNC ENSG00000125952 376 0 0 116 59 33.7143 PLEKHH1 0 genome.wustl.edu 37 14 68045999 68045999 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 68045999 68045999 C A SNP PLEKHH1 ENST00000329153 human ensembl 74_37 +1 known missense c.2998 p.P1000T 1.000 smart_Band_41_domain,pfscan_FERM_domain pfam_Pleckstrin_homology,pfam_MyTH4_dom,pfam_FERM_central,superfamily_FERM_central,smart_Pleckstrin_homology,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom,pfscan_Pleckstrin_homology - no_errors PLEKHH1 HGNC ENSG00000054690 25 0 0 8 4 33.3333 GALNT16 0 genome.wustl.edu 37 14 69818886 69818886 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 69818886 69818886 C T SNP GALNT16 ENST00000556829 human ensembl 74_37 +1 putative rna NULL NULL 0.783 - - - no_errors GALNT16 HGNC ENSG00000100626 52 0 0 14 6 30 PCNX 0 genome.wustl.edu 37 14 71555941 71555941 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 71555941 71555941 C T SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.5471 p.A1824V 1.000 pfam_Pecanex pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 79 0 0 50 34 40.4762 SIPA1L1 0 genome.wustl.edu 37 14 72117105 72117105 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 72117105 72117105 T C SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known silent c.1872 p.T624 0.001 pfscan_Rap_GAP_dom pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 333 0 0 160 24 13.0435 RGS6 0 genome.wustl.edu 37 14 72976908 72976908 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 72976908 72976908 G A SNP RGS6 ENST00000553525 human ensembl 74_37 +1 known missense c.1012 p.D338N 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS6 HGNC ENSG00000182732 361 0 0 106 66 38.3721 PAPLN 0 genome.wustl.edu 37 14 73717689 73717689 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 73717689 73717689 G A SNP PAPLN ENST00000427855 human ensembl 74_37 +1 known silent c.540 p.T180 0.004 prints_Peptidase_M12B_ADAM-TS pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m - no_errors PAPLN HGNC ENSG00000100767 167 0 0 39 21 35 VRTN 0 genome.wustl.edu 37 14 74824474 74824474 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 74824474 74824474 G A SNP VRTN ENST00000256362 human ensembl 74_37 +1 known missense c.988 p.V330M 0.407 NULL pfam_Transposase_8 - no_errors VRTN HGNC ENSG00000133980 178 0 0 48 23 32.3944 RPS6KL1 0 genome.wustl.edu 37 14 75376460 75376460 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 75376460 75376460 G A SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known silent c.1056 p.A352 0.008 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_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 60 0 0 24 9 27.2727 RPS6KL1 0 genome.wustl.edu 37 14 75376598 75376598 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 75376598 75376598 G A SNP RPS6KL1 ENST00000358328 human ensembl 74_37 -1 known silent c.918 p.P306 0.003 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_MIT,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors RPS6KL1 HGNC ENSG00000198208 54 0 0 20 13 39.3939 SNW1 0 genome.wustl.edu 37 14 78187146 78187146 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 78187146 78187146 G A SNP SNW1 ENST00000261531 human ensembl 74_37 -1 known missense c.1156 p.R386W 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 137 0 0 80 34 29.8246 NRXN3 0 genome.wustl.edu 37 14 79432736 79432736 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 79432736 79432736 G A SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.2731 p.E911K 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 227 0 0 104 51 32.9032 EML5 0 genome.wustl.edu 37 14 89181530 89181530 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 89181530 89181530 C T SNP EML5 ENST00000554922 human ensembl 74_37 -1 known silent c.1197 p.T399 0.520 superfamily_WD40_repeat_dom,smart_WD40_repeat,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 14 0 0 13 4 23.5294 UNC79 0 genome.wustl.edu 37 14 94046501 94046501 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 94046501 94046501 T C SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known silent c.2440 p.L814 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 131 0 0 56 26 31.7073 SERPINA6 0 genome.wustl.edu 37 14 94776185 94776185 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 94776185 94776185 C T SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known missense c.772 p.V258M 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 127 0 0 47 22 31.8841 PAPOLA 0 genome.wustl.edu 37 14 97002284 97002284 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 97002284 97002284 G A SNP PAPOLA ENST00000216277 human ensembl 74_37 +1 known silent c.978 p.T326 0.997 pfam_PolA_pol_cen_dom,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLA HGNC ENSG00000090060 82 0 0 40 28 41.1765 DNM1P46 0 genome.wustl.edu 37 15 100341440 100341440 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 100341440 100341440 G A SNP DNM1P46 ENST00000559110 human ensembl 74_37 -1 known rna NULL NULL 0.876 - - - no_errors DNM1P46 HGNC ENSG00000182397 39 0 0 3 8 72.7273 SNRPA1 0 genome.wustl.edu 37 15 101835369 101835369 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 101835369 101835369 C T SNP SNRPA1 ENST00000254193 human ensembl 74_37 -1 known silent c.15 p.T5 0.998 NULL smart_U2A'_phosphoprotein32A_C - no_errors SNRPA1 HGNC ENSG00000131876 14 0 0 3 5 62.5 HERC2P3 0 genome.wustl.edu 37 15 20642613 20642613 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 20642613 20642613 C T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HERC2P3 HGNC ENSG00000180229 92 0 0 54 8 12.9032 CYFIP1 0 genome.wustl.edu 37 15 22956283 22956283 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 22956283 22956283 G A SNP CYFIP1 ENST00000435939 human ensembl 74_37 +1 known missense c.227 p.R76H 0.000 NULL pfam_Cytoplasmic_FMR1-int,prints_Cytoplasmic_FMR1-int - no_errors CYFIP1 HGNC ENSG00000068793 21 0 0 10 4 28.5714 NPAP1 0 genome.wustl.edu 37 15 24921893 24921893 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 24921893 24921893 G T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known silent c.879 p.P293 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 142 0 0 45 21 31.8182 HERC2 0 genome.wustl.edu 37 15 28437133 28437133 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 28437133 28437133 A C SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.8425 p.W2809G 1.000 pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like 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 205 0 0 101 23 18.5484 FAN1 0 genome.wustl.edu 37 15 31222835 31222835 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 31222835 31222835 C T SNP FAN1 ENST00000362065 human ensembl 74_37 +1 known silent c.2877 p.P959 0.000 pfam_VRR_NUC pfam_VRR_NUC,smart_Znf_Rad18_put - no_errors FAN1 HGNC ENSG00000198690 124 0 0 53 25 32.0513 ANP32AP1 0 genome.wustl.edu 37 15 35529406 35529406 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 35529406 35529406 C T SNP ANP32AP1 ENST00000560832 human ensembl 74_37 +1 known rna NULL NULL 0.008 - - - no_errors ANP32AP1 HGNC ENSG00000259516 26 0 0 19 8 29.6296 C15orf53 0 genome.wustl.edu 37 15 38990601 38990601 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 38990601 38990601 G A SNP C15orf53 ENST00000318792 human ensembl 74_37 +1 known missense c.395 p.R132H 0.000 NULL NULL - no_errors C15orf53 HGNC ENSG00000175779 81 0 0 30 15 33.3333 BUB1B 0 genome.wustl.edu 37 15 40512803 40512803 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 40512803 40512803 G A SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.3038 p.R1013Q 1.000 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 177 0 0 134 15 10.0671 VPS18 0 genome.wustl.edu 37 15 41191563 41191563 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 41191563 41191563 G A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known missense c.547 p.G183S 0.989 NULL pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 178 0 0 61 34 35.7895 DUOX2 0 genome.wustl.edu 37 15 45392015 45392015 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 45392015 45392015 G A SNP DUOX2 ENST00000389039 human ensembl 74_37 -1 known missense c.3260 p.A1087V 1.000 pfam_Fe3_Rdtase_TM_dom 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 138 0 0 45 33 42.3077 FBN1 0 genome.wustl.edu 37 15 48936960 48936960 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 48936960 48936960 G A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known nonsense c.7 p.R3* 0.992 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 70 0 0 31 16 34.0426 COPS2 0 genome.wustl.edu 37 15 49426000 49426000 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 49426000 49426000 C T SNP COPS2 ENST00000299259 human ensembl 74_37 -1 known silent c.924 p.P308 0.999 smart_PAM pfam_PCI_dom,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 42 0 0 23 13 36.1111 TRPM7 0 genome.wustl.edu 37 15 50885864 50885864 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 50885864 50885864 A G SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known silent c.3558 p.D1186 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 96 0 0 47 18 27.6923 PYGO1 0 genome.wustl.edu 37 15 55841125 55841125 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 55841125 55841125 G A SNP PYGO1 ENST00000302000 human ensembl 74_37 -1 known missense c.118 p.R40C 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO1 HGNC ENSG00000171016 115 0 0 47 20 29.8507 LDHAL6B 0 genome.wustl.edu 37 15 59499250 59499250 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 59499250 59499250 G A SNP LDHAL6B ENST00000307144 human ensembl 74_37 +1 known silent c.111 p.P37 0.001 NULL pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHAL6B HGNC ENSG00000171989 109 1 0.909091 63 5 7.35294 HERC1 0 genome.wustl.edu 37 15 63950763 63950763 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 63950763 63950763 C T SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known silent c.9579 p.A3193 0.851 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 58 0 0 27 14 34.1463 CSNK1G1 0 genome.wustl.edu 37 15 64499785 64499785 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 64499785 64499785 G A SNP CSNK1G1 ENST00000303052 human ensembl 74_37 -1 known missense c.688 p.R230W 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_Casein_kinase-1_gamma_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CSNK1G1 HGNC ENSG00000169118 71 0 0 22 8 26.6667 PIF1 0 genome.wustl.edu 37 15 65114768 65114768 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 65114768 65114768 C A SNP PIF1 ENST00000333425 human ensembl 74_37 -1 known missense c.600 p.L200F 0.992 NULL pfam_DNA_helicase_Pif1,pfam_DNA_helicase,superfamily_P-loop_NTPase - no_errors PIF1 HGNC ENSG00000140451 85 0 0 27 9 25 CLPX 0 genome.wustl.edu 37 15 65444827 65444827 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 65444827 65444827 G A SNP CLPX ENST00000300107 human ensembl 74_37 -1 known silent c.1752 p.I584 1.000 superfamily_P-loop_NTPase,tigrfam_Clp_protease_ATP-bd_su_ClpX pfam_ATPase_AAA-2,pfam_Clp_ATPase_C,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_Sigma_54_int,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_Clp_protease_ATP-bd_su_ClpX - no_errors CLPX HGNC ENSG00000166855 114 0 0 44 18 29.0323 PTPLAD1 0 genome.wustl.edu 37 15 65863951 65863951 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 65863951 65863951 C T SNP PTPLAD1 ENST00000261875 human ensembl 74_37 +1 known missense c.839 p.T280I 0.946 pfam_Tyr_Pase-like_PTPLA pfam_Tyr_Pase-like_PTPLA,pfam_CS_dom,superfamily_HSP20-like_chaperone,pfscan_CS_dom - no_errors PTPLAD1 HGNC ENSG00000074696 55 0 0 17 12 41.3793 MAP2K1 0 genome.wustl.edu 37 15 66774194 66774194 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 66774194 66774194 G A SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.670 p.V224M 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 80 0 0 30 16 34.7826 IQCH 0 genome.wustl.edu 37 15 67782375 67782375 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 67782375 67782375 A G SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.2834 p.H945R 0.241 NULL superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 233 0 0 99 54 35.2941 GLCE 0 genome.wustl.edu 37 15 69548149 69548149 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 69548149 69548149 C T SNP GLCE ENST00000261858 human ensembl 74_37 +1 known missense c.4 p.R2C 1.000 NULL pfam_C5-epim - no_errors GLCE HGNC ENSG00000138604 94 0 0 57 22 27.8481 CSPG4 0 genome.wustl.edu 37 15 75980690 75980690 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 75980690 75980690 G T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.2716 p.L906I 0.006 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 148 1 0.671141 39 34 46.5753 CSPG4 0 genome.wustl.edu 37 15 75981406 75981406 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 75981406 75981406 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.2000 p.R667H 0.997 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 176 0 0 44 23 34.3284 ISL2 0 genome.wustl.edu 37 15 76630254 76630254 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 76630254 76630254 C T SNP ISL2 ENST00000290759 human ensembl 74_37 +1 known missense c.194 p.T65M 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 ISL2 HGNC ENSG00000159556 109 0 0 21 10 32.2581 PEAK1 0 genome.wustl.edu 37 15 77407138 77407138 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 77407138 77407138 T C SNP PEAK1 ENST00000312493 human ensembl 74_37 -1 known missense c.4601 p.Q1534R 0.011 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_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors PEAK1 HGNC ENSG00000173517 123 0 0 37 21 36.2069 CSPG4P13 0 genome.wustl.edu 37 15 78196402 78196402 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 78196402 78196402 C T SNP CSPG4P13 ENST00000565545 human ensembl 74_37 +1 known rna NULL NULL 0.172 - - - no_errors CSPG4P13 HGNC ENSG00000260139 36 0 0 12 3 20 MTHFS 0 genome.wustl.edu 37 15 80137709 80137709 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 80137709 80137709 T C SNP MTHFS ENST00000258874 human ensembl 74_37 -1 known missense c.455 p.Y152C 1.000 pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase pfam_FTHF_cligase,pirsf_FTHF_cligase,tigrfam_FTHF_cligase - no_errors MTHFS HGNC ENSG00000136371 156 0 0 64 18 21.9512 PDE8A 0 genome.wustl.edu 37 15 85658682 85658682 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 85658682 85658682 A C SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known silent c.1363 p.R455 1.000 NULL 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 34 0 0 16 12 42.8571 SLCO3A1 0 genome.wustl.edu 37 15 92459657 92459657 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 92459657 92459657 C T SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known silent c.615 p.H205 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 27 0 0 13 4 23.5294 RHBDF1 0 genome.wustl.edu 37 16 109078 109078 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 109078 109078 C T SNP RHBDF1 ENST00000262316 human ensembl 74_37 -1 known missense c.2042 p.R681Q 1.000 pfam_Peptidase_S54_rhomboid_dom pfam_Rhomboid_SP,pfam_Peptidase_S54_rhomboid_dom - no_errors RHBDF1 HGNC ENSG00000007384 80 0 0 30 12 28.5714 BAIAP3 0 genome.wustl.edu 37 16 1398109 1398109 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 1398109 1398109 C T SNP BAIAP3 ENST00000324385 human ensembl 74_37 +1 known silent c.3267 p.A1089 0.680 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors BAIAP3 HGNC ENSG00000007516 93 0 0 26 9 25.7143 KIAA0430 0 genome.wustl.edu 37 16 15718921 15718921 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 15718921 15718921 G A SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.2063 p.T688M 0.001 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 254 0 0 80 40 33.3333 MYH11 0 genome.wustl.edu 37 16 15829334 15829334 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 15829334 15829334 G A SNP MYH11 ENST00000396324 human ensembl 74_37 -1 known missense c.3416 p.A1139V 0.980 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 234 0 0 66 52 44.0678 TMEM204 0 genome.wustl.edu 37 16 1584316 1584316 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 1584316 1584316 G A SNP TMEM204 ENST00000253934 human ensembl 74_37 +1 known missense c.40 p.A14T 1.000 NULL NULL - no_errors TMEM204 HGNC ENSG00000131634 146 0 0 44 19 30.1587 ABCC6 0 genome.wustl.edu 37 16 16256993 16256993 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 16256993 16256993 C T SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.3363 p.S1121 0.001 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 145 0 0 47 21 30.8824 HAGH 0 genome.wustl.edu 37 16 1866933 1866933 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 1866933 1866933 G T SNP HAGH ENST00000455446 human ensembl 74_37 -1 putative missense c.599 p.P200Q 0.005 NULL pfam_Beta-lactamas-like - no_errors HAGH HGNC ENSG00000063854 91 0 0 21 6 22.2222 HS3ST6 0 genome.wustl.edu 37 16 1962139 1962139 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 1962139 1962139 G A SNP HS3ST6 ENST00000293937 human ensembl 74_37 -1 known nonsense c.481 p.R161* 0.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST6 HGNC ENSG00000162040 36 0 0 10 9 47.3684 GP2 0 genome.wustl.edu 37 16 20335202 20335202 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 20335202 20335202 G A SNP GP2 ENST00000381362 human ensembl 74_37 -1 known silent c.471 p.C157 0.002 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors GP2 HGNC ENSG00000169347 76 0 0 22 14 38.8889 RRN3P1 0 genome.wustl.edu 37 16 21809167 21809167 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 21809167 21809167 G A SNP RRN3P1 ENST00000546471 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RRN3P1 HGNC ENSG00000248124 34 0 0 25 11 30.5556 ABCA3 0 genome.wustl.edu 37 16 2333320 2333320 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 2333320 2333320 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.3902 p.P1301L 0.933 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 127 0 0 33 22 40 NUPR1 0 genome.wustl.edu 37 16 28549505 28549505 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 28549505 28549505 A G SNP NUPR1 ENST00000395641 human ensembl 74_37 -1 novel silent c.138 p.T46 0.011 NULL pfam_Nuclear_phosphoprot_p8_DNA-bd - no_errors NUPR1 HGNC ENSG00000176046 216 0 0 70 39 35.7798 ATP2A1 0 genome.wustl.edu 37 16 28906225 28906225 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 28906225 28906225 C T SNP ATP2A1 ENST00000357084 human ensembl 74_37 +1 known missense c.1370 p.T457M 1.000 superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Ca-transp_IIA 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_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A1 HGNC ENSG00000196296 122 0 0 27 12 30.7692 PRRT2 0 genome.wustl.edu 37 16 29825015 29825015 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 29825015 29825015 G C SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known missense c.640 p.A214P 1.000 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 38 0 0 18 5 21.7391 HIRIP3 0 genome.wustl.edu 37 16 30004974 30004974 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 30004974 30004974 C T SNP HIRIP3 ENST00000564026 human ensembl 74_37 -1 known missense c.457 p.A153T 0.238 NULL NULL - no_errors HIRIP3 HGNC ENSG00000149929 68 0 0 25 12 32.4324 PPP4C 0 genome.wustl.edu 37 16 30094211 30094211 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 30094211 30094211 G A SNP PPP4C ENST00000566749 human ensembl 74_37 +1 known missense c.346 p.G116R 0.000 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 53 0 0 22 20 47.619 PKMYT1 0 genome.wustl.edu 37 16 3025408 3025408 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 3025408 3025408 C A SNP PKMYT1 ENST00000262300 human ensembl 74_37 -1 known nonsense c.784 p.G262* 0.840 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_Tyr/Thr_kinase_Cdc2_inhib,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_Tyr/Thr_kinase_Cdc2_inhib,pfscan_Prot_kinase_dom - no_errors PKMYT1 HGNC ENSG00000127564 110 0 0 39 3 7.14286 ZNF764 0 genome.wustl.edu 37 16 30567397 30567397 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 30567397 30567397 C T SNP ZNF764 ENST00000252797 human ensembl 74_37 -1 known silent c.345 p.R115 0.218 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 ZNF764 HGNC ENSG00000169951 102 0 0 38 23 37.7049 BMS1P8 0 genome.wustl.edu 37 16 33497959 33497959 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 33497959 33497959 G A SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BMS1P8 HGNC ENSG00000260518 109 0 0 46 19 29.2308 NLRC3 0 genome.wustl.edu 37 16 3594291 3594291 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 3594291 3594291 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.2948 p.A983V 0.185 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 92 0 0 25 10 28.5714 CREBBP 0 genome.wustl.edu 37 16 3781417 3781417 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 3781417 3781417 C T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.4948 p.V1650I 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 34 0 0 6 5 45.4545 MGRN1 0 genome.wustl.edu 37 16 4731601 4731601 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 4731601 4731601 G A SNP MGRN1 ENST00000262370 human ensembl 74_37 +1 known silent c.1182 p.A394 0.671 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors MGRN1 HGNC ENSG00000102858 144 1 0.689655 31 24 43.6364 LONP2 0 genome.wustl.edu 37 16 48295348 48295348 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 48295348 48295348 G A SNP LONP2 ENST00000285737 human ensembl 74_37 +1 known missense c.737 p.R246H 1.000 tigrfam_Lon_bac/euk-typ pfam_Pept_S16_C,pfam_Pept_S16_N,pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,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 LONP2 HGNC ENSG00000102910 209 0 0 118 29 19.7279 BBS2 0 genome.wustl.edu 37 16 56535332 56535332 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 56535332 56535332 C T SNP BBS2 ENST00000245157 human ensembl 74_37 -1 known silent c.1158 p.T386 0.090 pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 285 0 0 136 12 8.10811 GPR114 0 genome.wustl.edu 37 16 57600565 57600565 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 57600565 57600565 T C SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known missense c.601 p.W201R 0.955 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 187 0 0 81 12 12.9032 TEPP 0 genome.wustl.edu 37 16 58018678 58018678 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 58018678 58018678 G A SNP TEPP ENST00000290871 human ensembl 74_37 +1 known missense c.589 p.A197T 0.013 NULL NULL - no_errors TEPP HGNC ENSG00000159648 29 0 0 9 3 25 USB1 0 genome.wustl.edu 37 16 58036445 58036445 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 58036445 58036445 C T SNP USB1 ENST00000219281 human ensembl 74_37 +1 known missense c.161 p.P54L 0.113 pfam_Usb1 pfam_Usb1 - no_errors USB1 HGNC ENSG00000103005 233 0 0 63 32 33.6842 CDH16 0 genome.wustl.edu 37 16 66943236 66943236 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 66943236 66943236 G A SNP CDH16 ENST00000299752 human ensembl 74_37 -1 known missense c.2326 p.R776C 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH16 HGNC ENSG00000166589 74 0 0 18 8 30.7692 RRAD 0 genome.wustl.edu 37 16 66959057 66959057 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 66959057 66959057 C A SNP RRAD ENST00000299759 human ensembl 74_37 -1 known missense c.26 p.G9V 1.000 pirsf_Small_GTPase_GEM/REM/Rad pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,pirsf_Small_GTPase_GEM/REM/Rad,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAD HGNC ENSG00000166592 13 0 0 0 3 100 E2F4 0 genome.wustl.edu 37 16 67227347 67227347 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 67227347 67227347 C T SNP E2F4 ENST00000568839 human ensembl 74_37 +1 known missense c.268 p.H90Y 0.000 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 219 0 0 72 43 37.3913 ELMO3 0 genome.wustl.edu 37 16 67237066 67237066 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 67237066 67237066 C T SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known nonsense c.1879 p.Q627* 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 50 0 0 17 7 29.1667 FAM65A 0 genome.wustl.edu 37 16 67579579 67579579 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 67579579 67579579 G A SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known missense c.3263 p.R1088Q 0.994 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 292 0 0 51 40 43.956 TSNAXIP1 0 genome.wustl.edu 37 16 67860159 67860159 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 67860159 67860159 C T SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.1087 p.R363W 0.963 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 139 0 0 37 17 31.4815 DDX28 0 genome.wustl.edu 37 16 68057092 68057092 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 68057092 68057092 C T SNP DDX28 ENST00000332395 human ensembl 74_37 -1 known missense c.14 p.R5Q 0.004 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 DDX28 HGNC ENSG00000182810 76 0 0 9 8 47.0588 WFIKKN1 0 genome.wustl.edu 37 16 683442 683442 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 683442 683442 C T SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known silent c.1032 p.Y344 0.896 pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 14 0 0 3 5 62.5 SMPD3 0 genome.wustl.edu 37 16 68405944 68405944 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 68405944 68405944 C T SNP SMPD3 ENST00000219334 human ensembl 74_37 -1 known silent c.141 p.Q47 1.000 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase - no_errors SMPD3 HGNC ENSG00000103056 48 0 0 14 5 26.3158 AARS 0 genome.wustl.edu 37 16 70295027 70295027 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 70295027 70295027 G A SNP AARS ENST00000261772 human ensembl 74_37 -1 known nonsense c.1705 p.R569* 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 127 1 0.78125 43 23 34.8485 HYDIN 0 genome.wustl.edu 37 16 70866938 70866938 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 70866938 70866938 T C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.13712 p.H4571R 0.981 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 29 0 0 19 8 29.6296 HYDIN 0 genome.wustl.edu 37 16 70993639 70993639 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 70993639 70993639 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.6053 p.R2018H 1.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 26 0 0 13 9 40.9091 ATP2C2 0 genome.wustl.edu 37 16 84486938 84486938 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 84486938 84486938 C A SNP ATP2C2 ENST00000262429 human ensembl 74_37 +1 known missense c.1941 p.F647L 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_PMR1,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2C2 HGNC ENSG00000064270 434 2 0.458716 159 31 16.3158 KLHL36 0 genome.wustl.edu 37 16 84695452 84695452 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 84695452 84695452 C T SNP KLHL36 ENST00000564996 human ensembl 74_37 +1 known nonsense c.1564 p.Q522* 0.991 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 79 0 0 11 6 35.2941 FBXO31 0 genome.wustl.edu 37 16 87376516 87376516 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 87376516 87376516 C T SNP FBXO31 ENST00000311635 human ensembl 74_37 -1 known silent c.699 p.T233 0.964 NULL pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO31 HGNC ENSG00000103264 24 0 0 12 4 25 ANKRD11 0 genome.wustl.edu 37 16 89347376 89347376 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 89347376 89347376 C T SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.5574 p.P1858 0.901 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 120 0 0 30 19 38.7755 ANKRD11 0 genome.wustl.edu 37 16 89350961 89350961 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 89350961 89350961 G C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.1989 p.D663E 0.997 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 256 0 0 110 45 29.0323 PRPF8 0 genome.wustl.edu 37 17 1587865 1587865 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 1587865 1587865 T C SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known missense c.1 p.M1V 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 63 0 0 28 14 33.3333 FLCN 0 genome.wustl.edu 37 17 17127263 17127263 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 17127263 17127263 G A SNP FLCN ENST00000285071 human ensembl 74_37 -1 known silent c.591 p.I197 0.560 pfam_Folliculin pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 88 0 0 43 3 6.52174 MYO15A 0 genome.wustl.edu 37 17 18023035 18023035 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 18023035 18023035 C T SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known silent c.921 p.Y307 0.991 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 175 0 0 54 22 28.9474 HIC1 0 genome.wustl.edu 37 17 1961105 1961105 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 1961105 1961105 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.1178 p.G393D 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 HIC1 HGNC ENSG00000177374 13 0 0 6 4 40 SMG6 0 genome.wustl.edu 37 17 2186925 2186925 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 2186925 2186925 C A SNP SMG6 ENST00000263073 human ensembl 74_37 -1 known missense c.2442 p.K814N 0.999 NULL pfam_EST1,smart_PIN_dom - no_errors SMG6 HGNC ENSG00000070366 158 0 0 55 35 38.8889 PAFAH1B1 0 genome.wustl.edu 37 17 2541468 2541468 + RNA SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 2541468 2541468 T C SNP PAFAH1B1 ENST00000572915 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors PAFAH1B1 HGNC ENSG00000007168 10 0 0 5 3 37.5 NOS2 0 genome.wustl.edu 37 17 26107875 26107875 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 26107875 26107875 C T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.922 p.V308I 0.974 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 103 0 0 36 13 26.5306 UNC119 0 genome.wustl.edu 37 17 26874689 26874689 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 26874689 26874689 G A SNP UNC119 ENST00000301032 human ensembl 74_37 -1 known missense c.616 p.R206W 0.717 superfamily_Ig_E-set pfam_GMP_PDE_delta,superfamily_Ig_E-set - no_errors UNC119 HGNC ENSG00000109103 105 0 0 48 17 26.1538 SDF2 0 genome.wustl.edu 37 17 26976285 26976285 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 26976285 26976285 C A SNP SDF2 ENST00000247020 human ensembl 74_37 -1 known missense c.358 p.A120S 1.000 pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif pfam_MIR_motif,superfamily_MIR_motif,smart_MIR_motif,pfscan_MIR_motif - no_errors SDF2 HGNC ENSG00000132581 127 0 0 58 6 9.375 SUPT6H 0 genome.wustl.edu 37 17 27010016 27010016 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 27010016 27010016 A G SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.1784 p.Q595R 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 81 0 0 32 4 11.1111 NEK8 0 genome.wustl.edu 37 17 27068463 27068463 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 27068463 27068463 C T SNP NEK8 ENST00000268766 human ensembl 74_37 +1 known nonsense c.1924 p.R642* 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_RCC1/BLIP-II,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 80 0 0 29 12 29.2683 PHF12 0 genome.wustl.edu 37 17 27248731 27248731 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 27248731 27248731 C T SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known missense c.811 p.V271I 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_PHD-finger 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 186 0 0 66 48 42.1053 PIPOX 0 genome.wustl.edu 37 17 27380441 27380441 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 27380441 27380441 G A SNP PIPOX ENST00000323372 human ensembl 74_37 +1 known missense c.488 p.R163Q 0.866 pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon pfam_FAD-dep_OxRdtase,tigrfam_SoxA_mon - no_errors PIPOX HGNC ENSG00000179761 183 0 0 53 19 26.3889 NSRP1 0 genome.wustl.edu 37 17 28512115 28512115 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 28512115 28512115 C T SNP NSRP1 ENST00000247026 human ensembl 74_37 +1 known missense c.1100 p.A367V 0.010 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 46 0 0 30 5 14.2857 NSRP1 0 genome.wustl.edu 37 17 28512116 28512116 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 28512116 28512116 G A SNP NSRP1 ENST00000247026 human ensembl 74_37 +1 known silent c.1101 p.A367 0.001 NULL pfam_DUF2040 - no_errors NSRP1 HGNC ENSG00000126653 48 0 0 25 10 28.5714 TMEM132E 0 genome.wustl.edu 37 17 32957082 32957082 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 32957082 32957082 T A SNP TMEM132E ENST00000321639 human ensembl 74_37 +1 known missense c.1124 p.V375D 1.000 NULL NULL - no_errors TMEM132E HGNC ENSG00000181291 75 0 0 17 7 29.1667 LYZL6 0 genome.wustl.edu 37 17 34263709 34263709 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 34263709 34263709 G A SNP LYZL6 ENST00000492340 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors LYZL6 HGNC ENSG00000161572 133 0 0 52 12 18.75 MYO19 0 genome.wustl.edu 37 17 34863341 34863341 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 34863341 34863341 G A SNP MYO19 ENST00000431794 human ensembl 74_37 -1 known missense c.1364 p.A455V 0.103 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 148 0 0 33 16 32.6531 GGNBP2 0 genome.wustl.edu 37 17 34912960 34912960 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 34912960 34912960 C T SNP GGNBP2 ENST00000304718 human ensembl 74_37 +1 known missense c.212 p.A71V 1.000 NULL NULL - no_errors GGNBP2 HGNC ENSG00000005955 190 0 0 66 47 41.5929 GRB7 0 genome.wustl.edu 37 17 37898828 37898828 + Silent SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 37898828 37898828 A T SNP GRB7 ENST00000445327 human ensembl 74_37 +1 known silent c.234 p.R78 0.978 NULL pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB7 HGNC ENSG00000141738 309 0 0 139 9 6.08108 GSDMA 0 genome.wustl.edu 37 17 38126892 38126892 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 38126892 38126892 G A SNP GSDMA ENST00000301659 human ensembl 74_37 +1 known missense c.550 p.G184R 1.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMA HGNC ENSG00000167914 9 0 0 3 3 50 KRT39 0 genome.wustl.edu 37 17 39123030 39123030 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 39123030 39123030 T C SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known missense c.79 p.T27A 0.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 281 1 0.35461 176 47 21.0762 KRTAP4-12 0 genome.wustl.edu 37 17 39280073 39280073 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 39280073 39280073 C T SNP KRTAP4-12 ENST00000394014 human ensembl 74_37 -1 known missense c.302 p.C101Y 0.910 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP4-12 HGNC ENSG00000213416 195 1 0.510204 46 24 34.2857 KRT33A 0 genome.wustl.edu 37 17 39505608 39505608 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 39505608 39505608 A G SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known missense c.421 p.F141L 1.000 pfam_IF,prints_Keratin_I pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 78 0 0 35 14 28.5714 ATP6V0A1 0 genome.wustl.edu 37 17 40666353 40666353 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 40666353 40666353 C T SNP ATP6V0A1 ENST00000264649 human ensembl 74_37 +1 known silent c.2298 p.S766 0.000 pfam_V-ATPase_116kDa_su pfam_V-ATPase_116kDa_su - no_errors ATP6V0A1 HGNC ENSG00000033627 382 0 0 117 64 35.3591 CCR10 0 genome.wustl.edu 37 17 40832215 40832215 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 40832215 40832215 C T SNP CCR10 ENST00000332438 human ensembl 74_37 -1 known missense c.445 p.G149R 0.043 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR10,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt - no_errors CCR10 HGNC ENSG00000184451 43 0 0 8 5 38.4615 MPP3 0 genome.wustl.edu 37 17 41891388 41891388 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 41891388 41891388 C T SNP MPP3 ENST00000398389 human ensembl 74_37 -1 known missense c.1246 p.A416T 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,smart_GK/Ca_channel_bsu,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP3 HGNC ENSG00000161647 201 0 0 62 48 43.6364 SLC4A1 0 genome.wustl.edu 37 17 42335473 42335473 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 42335473 42335473 C T SNP SLC4A1 ENST00000262418 human ensembl 74_37 -1 known missense c.1163 p.R388H 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_Anion_exchange,prints_Anion_exchange_1,tigrfam_HCO3_transpt_euk - no_errors SLC4A1 HGNC ENSG00000004939 262 0 0 71 23 24.4681 GFAP 0 genome.wustl.edu 37 17 42992767 42992767 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 42992767 42992767 G A SNP GFAP ENST00000253408 human ensembl 74_37 -1 known missense c.88 p.R30C 0.117 NULL pfam_IF - no_errors GFAP HGNC ENSG00000131095 45 0 0 15 8 34.7826 MAP3K14 0 genome.wustl.edu 37 17 43362236 43362236 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 43362236 43362236 G A SNP MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 0.930 - - - no_errors MAP3K14 HGNC ENSG00000006062 13 0 0 3 3 50 SP6 0 genome.wustl.edu 37 17 45925675 45925675 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 45925675 45925675 C T SNP SP6 ENST00000342234 human ensembl 74_37 -1 known missense c.121 p.G41R 0.922 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP6 HGNC ENSG00000189120 35 0 0 12 7 36.8421 PLD2 0 genome.wustl.edu 37 17 4720288 4720288 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 4720288 4720288 G A SNP PLD2 ENST00000263088 human ensembl 74_37 +1 known missense c.1639 p.V547I 0.959 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 187 0 0 48 31 39.2405 MRPL27 0 genome.wustl.edu 37 17 48447367 48447367 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 48447367 48447367 A G SNP MRPL27 ENST00000442592 human ensembl 74_37 -1 putative missense c.266 p.L89P 0.000 pfam_Ribosomal_L27 pfam_Ribosomal_L27,prints_Ribosomal_L27 - no_errors MRPL27 HGNC ENSG00000108826 87 0 0 23 20 46.5116 CHAD 0 genome.wustl.edu 37 17 48546095 48546095 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 48546095 48546095 C T SNP CHAD ENST00000258969 human ensembl 74_37 -1 known missense c.80 p.C27Y 1.000 pfam_LRR-contain_N,smart_LRR-contain_N 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 CHAD HGNC ENSG00000136457 38 0 0 11 15 57.6923 SPATA20 0 genome.wustl.edu 37 17 48628510 48628510 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 48628510 48628510 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known missense c.1535 p.P512H 1.000 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 62 0 0 10 6 37.5 SPATA20 0 genome.wustl.edu 37 17 48628511 48628511 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 48628511 48628511 C A SNP SPATA20 ENST00000006658 human ensembl 74_37 +1 known silent c.1536 p.P512 0.001 superfamily_6-hairpin_glycosidase-like pfam_DUF255,pfam_AGE/RnBP,superfamily_6-hairpin_glycosidase-like,superfamily_Thioredoxin-like_fold - no_errors SPATA20 HGNC ENSG00000006282 64 0 0 10 7 41.1765 ABCC3 0 genome.wustl.edu 37 17 48757227 48757227 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 48757227 48757227 G A SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known silent c.3774 p.E1258 1.000 superfamily_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 107 0 0 37 17 31.4815 INCA1 0 genome.wustl.edu 37 17 4892784 4892784 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 4892784 4892784 G A SNP INCA1 ENST00000396829 human ensembl 74_37 -1 known missense c.334 p.R112W 1.000 NULL NULL - no_errors INCA1 HGNC ENSG00000196388 454 0 0 136 79 36.7442 ZNF594 0 genome.wustl.edu 37 17 5085734 5085734 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 5085734 5085734 A G SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known silent c.1818 p.N606 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 340 0 0 162 80 33.0579 VMP1 0 genome.wustl.edu 37 17 57917285 57917285 + RNA SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 57917285 57917285 T C SNP VMP1 ENST00000588617 human ensembl 74_37 +1 known rna NULL NULL 0.007 - - - no_errors VMP1 HGNC ENSG00000062716 117 0 0 72 9 11.1111 CYB561 0 genome.wustl.edu 37 17 61514812 61514812 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 61514812 61514812 C T SNP CYB561 ENST00000360793 human ensembl 74_37 -1 known missense c.97 p.A33T 0.827 pfscan_Cyt_b561/ferric_Rdtase_TM pfam_Cyt_b561_euk,smart_Cyt_b561/ferric_Rdtase_TM,pfscan_Cyt_b561/ferric_Rdtase_TM - no_errors CYB561 HGNC ENSG00000008283 108 0 0 28 4 12.5 KCNH6 0 genome.wustl.edu 37 17 61615881 61615881 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 61615881 61615881 C T SNP KCNH6 ENST00000583023 human ensembl 74_37 +1 known silent c.1812 p.R604 0.875 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 31 0 0 9 4 30.7692 SCN4A 0 genome.wustl.edu 37 17 62018409 62018409 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 62018409 62018409 G A SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.5233 p.R1745C 1.000 pfscan_IQ_motif_EF-hand-BS 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 151 0 0 36 21 36.8421 SCN4A 0 genome.wustl.edu 37 17 62019281 62019281 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 62019281 62019281 C T SNP SCN4A ENST00000435607 human ensembl 74_37 -1 known missense c.4361 p.R1454Q 0.999 pfam_Ion_trans_dom 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 82 0 0 19 10 34.4828 ABCA5 0 genome.wustl.edu 37 17 67303002 67303002 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 67303002 67303002 G A SNP ABCA5 ENST00000392677 human ensembl 74_37 -1 known nonsense c.652 p.R218* 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA5 HGNC ENSG00000154265 119 0 0 63 24 27.5862 SSTR2 0 genome.wustl.edu 37 17 71166221 71166221 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 71166221 71166221 A G SNP SSTR2 ENST00000357585 human ensembl 74_37 +1 known missense c.763 p.T255A 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_2,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_5 - no_errors SSTR2 HGNC ENSG00000180616 211 0 0 78 52 40 ICT1 0 genome.wustl.edu 37 17 73008887 73008887 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 73008887 73008887 G A SNP ICT1 ENST00000301585 human ensembl 74_37 +1 known missense c.106 p.G36S 0.329 NULL pfam_Pep_chain_release_fac_I_II - no_errors ICT1 HGNC ENSG00000167862 37 0 0 13 11 45.8333 NLGN2 0 genome.wustl.edu 37 17 7320418 7320418 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 7320418 7320418 A T SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.1808 p.E603V 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 74 0 0 18 14 43.75 C17orf74 0 genome.wustl.edu 37 17 7330302 7330302 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 7330302 7330302 A G SNP C17orf74 ENST00000333870 human ensembl 74_37 +1 known missense c.992 p.N331S 0.000 NULL NULL - no_errors C17orf74 HGNC ENSG00000184560 60 0 0 17 5 22.7273 ZACN 0 genome.wustl.edu 37 17 74077483 74077483 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 74077483 74077483 G A SNP ZACN ENST00000334586 human ensembl 74_37 +1 known silent c.669 p.T223 0.982 superfamily_Neur_chan_lig-bd pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM - no_errors ZACN HGNC ENSG00000186919 397 0 0 104 65 38.4615 PRPSAP1 0 genome.wustl.edu 37 17 74324855 74324855 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 74324855 74324855 G A SNP PRPSAP1 ENST00000446526 human ensembl 74_37 -1 known missense c.724 p.R242C 0.985 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 43 0 0 21 10 32.2581 TNFSF12-TNFSF13 0 genome.wustl.edu 37 17 7463001 7463001 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 7463001 7463001 C A SNP TNFSF12-TNFSF13 ENST00000293826 human ensembl 74_37 +1 known missense c.559 p.L187I 0.552 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF12-TNFSF13 HGNC ENSG00000248871 57 0 0 32 2 5.88235 USP36 0 genome.wustl.edu 37 17 76800028 76800028 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 76800028 76800028 C T SNP USP36 ENST00000312010 human ensembl 74_37 -1 known missense c.2249 p.R750H 0.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP36 HGNC ENSG00000055483 85 0 0 27 5 15.625 KDM6B 0 genome.wustl.edu 37 17 7751580 7751580 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 7751580 7751580 C T SNP KDM6B ENST00000254846 human ensembl 74_37 +1 known silent c.1974 p.P658 0.027 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 173 0 0 39 30 43.4783 RPTOR 0 genome.wustl.edu 37 17 78704481 78704481 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 78704481 78704481 C T SNP RPTOR ENST00000306801 human ensembl 74_37 +1 known missense c.629 p.A210V 0.996 NULL pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor - no_errors RPTOR HGNC ENSG00000141564 121 0 0 42 27 39.1304 AATK 0 genome.wustl.edu 37 17 79098801 79098801 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 79098801 79098801 G A SNP AATK ENST00000326724 human ensembl 74_37 -1 known missense c.769 p.R257W 0.995 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,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 AATK HGNC ENSG00000181409 21 0 0 2 3 60 PCYT2 0 genome.wustl.edu 37 17 79866756 79866756 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 79866756 79866756 G A SNP PCYT2 ENST00000538721 human ensembl 74_37 -1 known silent c.336 p.H112 0.035 pfam_Cyt_trans-like pfam_Cyt_trans-like,tigrfam_Cyt_trans-like - no_errors PCYT2 HGNC ENSG00000185813 139 1 0.714286 37 15 28.8462 RAC3 0 genome.wustl.edu 37 17 79991680 79991680 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 79991680 79991680 C T SNP RAC3 ENST00000306897 human ensembl 74_37 +1 known missense c.554 p.P185L 0.934 NULL 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 RAC3 HGNC ENSG00000169750 25 0 0 12 7 36.8421 GPS1 0 genome.wustl.edu 37 17 80012606 80012606 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 80012606 80012606 G A SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.649 p.A217T 1.000 pfam_26S_proteasome_reg_su-Rpn7 pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 84 0 0 20 9 31.0345 GPS1 0 genome.wustl.edu 37 17 80014794 80014794 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 80014794 80014794 C T SNP GPS1 ENST00000355130 human ensembl 74_37 +1 known missense c.1453 p.R485C 0.999 NULL pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom - no_errors GPS1 HGNC ENSG00000169727 99 0 0 26 17 39.5349 UTS2R 0 genome.wustl.edu 37 17 80332696 80332696 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 80332696 80332696 C T SNP UTS2R ENST00000313135 human ensembl 74_37 +1 known missense c.496 p.R166C 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Urot_II_rcpt,prints_GPCR_Rhodpsn - no_errors UTS2R HGNC ENSG00000181408 16 0 0 7 3 30 ZNF750 0 genome.wustl.edu 37 17 80789902 80789902 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 80789902 80789902 C T SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known silent c.429 p.P143 0.009 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 106 0 0 21 6 22.2222 MYH10 0 genome.wustl.edu 37 17 8445463 8445463 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 8445463 8445463 G A SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known silent c.1537 p.L513 0.141 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,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 128 0 0 43 37 46.25 RCVRN 0 genome.wustl.edu 37 17 9804374 9804374 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 9804374 9804374 G A SNP RCVRN ENST00000226193 human ensembl 74_37 -1 known missense c.425 p.P142L 1.000 prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors RCVRN HGNC ENSG00000109047 127 0 0 43 31 41.8919 LDLRAD4 0 genome.wustl.edu 37 18 13438332 13438332 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 13438332 13438332 G A SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known missense c.130 p.E44K 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 161 0 0 75 38 33.6283 KCTD1 0 genome.wustl.edu 37 18 24056602 24056602 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 24056602 24056602 A G SNP KCTD1 ENST00000417602 human ensembl 74_37 -1 known silent c.2010 p.G670 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_DUF3504,pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD1 HGNC ENSG00000134504 82 0 0 38 16 29.6296 GALNT1 0 genome.wustl.edu 37 18 33263466 33263466 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 33263466 33263466 C A SNP GALNT1 ENST00000269195 human ensembl 74_37 +1 known missense c.593 p.A198D 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT1 HGNC ENSG00000141429 52 0 0 28 3 9.67742 RPRD1A 0 genome.wustl.edu 37 18 33606891 33606891 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 33606891 33606891 G A SNP RPRD1A ENST00000357384 human ensembl 74_37 -1 known missense c.761 p.A254V 1.000 NULL pfam_RNA_pol_II-bd,superfamily_ENTH_VHS,smart_CID_dom - no_errors RPRD1A HGNC ENSG00000141425 95 0 0 46 27 36.9863 FHOD3 0 genome.wustl.edu 37 18 34174753 34174753 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 34174753 34174753 C T SNP FHOD3 ENST00000257209 human ensembl 74_37 +1 known missense c.610 p.R204C 1.000 superfamily_ARM-type_fold pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FHOD3 HGNC ENSG00000134775 40 0 0 29 8 21.6216 KIAA1328 0 genome.wustl.edu 37 18 34647292 34647292 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 34647292 34647292 G A SNP KIAA1328 ENST00000280020 human ensembl 74_37 +1 known missense c.1016 p.R339Q 0.944 NULL NULL - no_errors KIAA1328 HGNC ENSG00000150477 92 0 0 27 14 34.1463 ME2 0 genome.wustl.edu 37 18 48442541 48442541 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 48442541 48442541 A G SNP ME2 ENST00000321341 human ensembl 74_37 +1 known silent c.396 p.G132 1.000 pfam_Malic_N pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME2 HGNC ENSG00000082212 119 1 0.833333 70 30 30 EPB41L3 0 genome.wustl.edu 37 18 5394709 5394709 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 5394709 5394709 C A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.3237 p.E1079D 1.000 pirsf_Band_41_protein,pfam_Band_4.1_C pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,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 EPB41L3 HGNC ENSG00000082397 115 0 0 50 23 31.5068 EPB41L3 0 genome.wustl.edu 37 18 5428401 5428401 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 5428401 5428401 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.976 p.R326W 1.000 pirsf_Band_41_protein,pfam_FERM_PH-like_C,pfscan_FERM_domain pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,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 EPB41L3 HGNC ENSG00000082397 262 0 0 104 65 38.4615 TNFRSF11A 0 genome.wustl.edu 37 18 60021739 60021739 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 60021739 60021739 C T SNP TNFRSF11A ENST00000586569 human ensembl 74_37 +1 known silent c.399 p.C133 0.948 smart_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_11A,prints_TNFR_11 - no_errors TNFRSF11A HGNC ENSG00000141655 77 0 0 26 16 38.0952 LAMA1 0 genome.wustl.edu 37 18 6958568 6958568 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 6958568 6958568 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.7872 p.Y2624 0.203 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 83 0 0 50 17 25.3731 NETO1 0 genome.wustl.edu 37 18 70526122 70526122 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 70526122 70526122 T A SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known missense c.408 p.K136N 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 - no_errors NETO1 HGNC ENSG00000166342 96 0 0 43 35 44.8718 ZADH2 0 genome.wustl.edu 37 18 72913820 72913820 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 72913820 72913820 C T SNP ZADH2 ENST00000322342 human ensembl 74_37 -1 known missense c.685 p.V229I 0.003 pfam_ADH_C,smart_PKS_ER pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER - no_errors ZADH2 HGNC ENSG00000180011 171 0 0 93 61 39.6104 ZNF236 0 genome.wustl.edu 37 18 74639294 74639294 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 74639294 74639294 C T SNP ZNF236 ENST00000253159 human ensembl 74_37 +1 known missense c.4229 p.T1410M 0.001 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 143 0 0 55 28 33.7349 SALL3 0 genome.wustl.edu 37 18 76753166 76753166 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 76753166 76753166 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.1175 p.A392V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 32 0 0 10 2 16.6667 SMARCA4 0 genome.wustl.edu 37 19 11132542 11132542 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 11132542 11132542 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2758 p.E920K 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 65 0 0 19 6 24 SMARCA4 0 genome.wustl.edu 37 19 11135079 11135079 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 11135079 11135079 G A SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.3046 p.V1016M 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 82 0 0 28 10 26.3158 SBNO2 0 genome.wustl.edu 37 19 1119039 1119039 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 1119039 1119039 C A SNP SBNO2 ENST00000361757 human ensembl 74_37 -1 known nonsense c.1498 p.E500* 0.997 NULL superfamily_P-loop_NTPase - no_errors SBNO2 HGNC ENSG00000064932 42 0 0 10 2 16.6667 CNN1 0 genome.wustl.edu 37 19 11660378 11660378 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 11660378 11660378 C T SNP CNN1 ENST00000252456 human ensembl 74_37 +1 known missense c.662 p.A221V 0.992 pfam_Calponin_repeat,pfscan_Calponin_repeat 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 36 0 0 20 4 16.6667 ZNF441 0 genome.wustl.edu 37 19 11891075 11891075 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 11891075 11891075 T C SNP ZNF441 ENST00000357901 human ensembl 74_37 +1 known missense c.436 p.C146R 0.962 smart_Znf_C2H2-like 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 113 0 0 67 16 19.2771 HOOK2 0 genome.wustl.edu 37 19 12875651 12875651 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 12875651 12875651 G A SNP HOOK2 ENST00000397668 human ensembl 74_37 -1 known missense c.1804 p.R602C 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_UBA-like - no_errors HOOK2 HGNC ENSG00000095066 277 0 0 61 39 39 MAST1 0 genome.wustl.edu 37 19 12985336 12985336 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 12985336 12985336 G A SNP MAST1 ENST00000251472 human ensembl 74_37 +1 known silent c.4365 p.A1455 0.895 NULL 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 MAST1 HGNC ENSG00000105613 33 0 0 12 3 20 ZSWIM4 0 genome.wustl.edu 37 19 13941853 13941853 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 13941853 13941853 C T SNP ZSWIM4 ENST00000254323 human ensembl 74_37 +1 known missense c.2959 p.R987C 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM4 HGNC ENSG00000132003 152 0 0 27 30 52.6316 IL27RA 0 genome.wustl.edu 37 19 14162495 14162495 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 14162495 14162495 C T SNP IL27RA ENST00000263379 human ensembl 74_37 +1 known silent c.1605 p.S535 0.009 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL27RA HGNC ENSG00000104998 137 0 0 34 2 5.55556 PCSK4 0 genome.wustl.edu 37 19 1487181 1487181 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 1487181 1487181 C T SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.814 p.G272S 0.850 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 61 0 0 18 10 35.7143 ILVBL 0 genome.wustl.edu 37 19 15233799 15233799 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 15233799 15233799 G A SNP ILVBL ENST00000263383 human ensembl 74_37 -1 known missense c.508 p.R170W 1.000 pfam_Thiamin_PyroP_enz_TPP-bd_dom pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_TPP_enzyme-bd_C,pfam_Thiamin_PyroP_enz_cen_dom - no_errors ILVBL HGNC ENSG00000105135 172 0 0 56 27 32.5301 CYP4F8 0 genome.wustl.edu 37 19 15739191 15739191 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 15739191 15739191 G A SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 0.222 - - - no_errors CYP4F8 HGNC ENSG00000186526 181 0 0 69 37 34.9057 USHBP1 0 genome.wustl.edu 37 19 17366391 17366391 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 17366391 17366391 G A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.1495 p.R499W 0.001 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 62 0 0 23 14 37.8378 USHBP1 0 genome.wustl.edu 37 19 17373521 17373521 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 17373521 17373521 C A SNP USHBP1 ENST00000252597 human ensembl 74_37 -1 known missense c.482 p.G161V 0.000 NULL pfam_USH1C-bd_PDZ_domain - no_errors USHBP1 HGNC ENSG00000130307 198 0 0 62 33 34.7368 ABHD8 0 genome.wustl.edu 37 19 17412206 17412206 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 17412206 17412206 C T SNP ABHD8 ENST00000247706 human ensembl 74_37 -1 known missense c.220 p.G74S 0.979 NULL pfam_AB_hydrolase_1,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD8 HGNC ENSG00000127220 94 0 0 25 11 30.5556 B3GNT3 0 genome.wustl.edu 37 19 17918981 17918981 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 17918981 17918981 G A SNP B3GNT3 ENST00000318683 human ensembl 74_37 +1 known missense c.365 p.R122H 1.000 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GNT3 HGNC ENSG00000179913 69 0 0 22 17 43.5897 REXO1 0 genome.wustl.edu 37 19 1817235 1817235 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 1817235 1817235 C T SNP REXO1 ENST00000170168 human ensembl 74_37 -1 known missense c.3184 p.A1062T 0.997 pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO1 HGNC ENSG00000079313 120 0 0 25 5 16.6667 KLHL26 0 genome.wustl.edu 37 19 18779936 18779936 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 18779936 18779936 A G SNP KLHL26 ENST00000300976 human ensembl 74_37 +1 known missense c.1729 p.I577V 0.997 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 KLHL26 HGNC ENSG00000167487 121 1 0.819672 24 23 48.9362 PBX4 0 genome.wustl.edu 37 19 19681602 19681602 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 19681602 19681602 G A SNP PBX4 ENST00000251203 human ensembl 74_37 -1 known silent c.234 p.D78 0.996 pfam_PBX pfam_PBX,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors PBX4 HGNC ENSG00000105717 186 0 0 57 35 38.0435 ZNF14 0 genome.wustl.edu 37 19 19823267 19823267 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 19823267 19823267 C T SNP ZNF14 ENST00000344099 human ensembl 74_37 -1 known missense c.823 p.G275R 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 ZNF14 HGNC ENSG00000105708 95 0 0 52 31 37.3494 AP3D1 0 genome.wustl.edu 37 19 2110223 2110223 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 2110223 2110223 C T SNP AP3D1 ENST00000355272 human ensembl 74_37 -1 known missense c.3176 p.G1059D 1.000 pfam_BLV_receptor pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu - no_errors AP3D1 HGNC ENSG00000065000 133 0 0 26 13 33.3333 ZNF676 0 genome.wustl.edu 37 19 22375844 22375844 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 22375844 22375844 C A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.104 p.R35I 0.058 pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 235 0 0 100 37 27.0073 ZNF536 0 genome.wustl.edu 37 19 30936377 30936377 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 30936377 30936377 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known silent c.1908 p.C636 0.789 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 315 0 0 89 36 28.8 DOHH 0 genome.wustl.edu 37 19 3496787 3496787 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 3496787 3496787 G A SNP DOHH ENST00000250937 human ensembl 74_37 -1 known missense c.26 p.A9V 0.496 NULL pfam_PBS_lyase_HEAT,superfamily_ARM-type_fold,smart_PBS_lyase_HEAT,pfscan_HEAT_type_2 - no_errors DOHH HGNC ENSG00000129932 94 0 0 26 14 35 ZNF302 0 genome.wustl.edu 37 19 35175306 35175306 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 35175306 35175306 G A SNP ZNF302 ENST00000423823 human ensembl 74_37 +1 known missense c.364 p.D122N 0.024 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 ZNF302 HGNC ENSG00000089335 69 0 0 27 17 38.6364 RBM42 0 genome.wustl.edu 37 19 36124665 36124665 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 36124665 36124665 C T SNP RBM42 ENST00000262633 human ensembl 74_37 +1 known missense c.761 p.A254V 0.816 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM42 HGNC ENSG00000126254 22 0 0 8 3 27.2727 C19orf55 0 genome.wustl.edu 37 19 36258757 36258757 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 36258757 36258757 G A SNP C19orf55 ENST00000396908 human ensembl 74_37 +1 known missense c.1010 p.R337Q 0.000 NULL NULL - no_errors C19orf55 HGNC ENSG00000167595 53 0 0 12 5 29.4118 ARHGAP33 0 genome.wustl.edu 37 19 36272095 36272095 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 36272095 36272095 C T SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known silent c.1026 p.H342 0.581 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 219 1 0.454545 58 29 33.3333 ARHGAP33 0 genome.wustl.edu 37 19 36276195 36276195 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 36276195 36276195 T C SNP ARHGAP33 ENST00000007510 human ensembl 74_37 +1 known missense c.1826 p.L609P 1.000 NULL pfam_RhoGAP_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP33 HGNC ENSG00000004777 110 0 0 53 9 14.5161 NPHS1 0 genome.wustl.edu 37 19 36330422 36330422 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 36330422 36330422 C G SNP NPHS1 ENST00000378910 human ensembl 74_37 -1 known missense c.2903 p.G968A 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_CD80_C2-set,pfam_Ig_I-set,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 NPHS1 HGNC ENSG00000161270 235 0 0 86 20 18.8679 ZNF540 0 genome.wustl.edu 37 19 38103015 38103015 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 38103015 38103015 G A SNP ZNF540 ENST00000316433 human ensembl 74_37 +1 known silent c.834 p.K278 0.352 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 85 0 0 27 14 34.1463 FCGBP 0 genome.wustl.edu 37 19 40433985 40433985 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 40433985 40433985 T C SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.284 p.K95R 0.356 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 129 0 0 54 28 34.1463 CNTD2 0 genome.wustl.edu 37 19 40729347 40729347 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 40729347 40729347 C T SNP CNTD2 ENST00000430325 human ensembl 74_37 -1 known missense c.620 p.G207D 0.057 superfamily_Cyclin-like,pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CNTD2 HGNC ENSG00000105219 40 0 0 20 3 13.0435 CYP2A13 0 genome.wustl.edu 37 19 41601775 41601775 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 41601775 41601775 G A SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.1414 p.D472N 0.829 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 322 0 0 97 64 39.7516 CYP2F1 0 genome.wustl.edu 37 19 41630686 41630686 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 41630686 41630686 C T SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.1027 p.R343C 0.999 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 45 0 0 11 9 45 ZNF574 0 genome.wustl.edu 37 19 42585373 42585373 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 42585373 42585373 T C SNP ZNF574 ENST00000222339 human ensembl 74_37 +1 known missense c.2885 p.V962A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF574 HGNC ENSG00000105732 203 0 0 61 41 40.1961 MEGF8 0 genome.wustl.edu 37 19 42853826 42853826 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 42853826 42853826 A G SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known missense c.2474 p.D825G 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 210 1 0.473934 62 34 35.4167 MEGF8 0 genome.wustl.edu 37 19 42880471 42880471 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 42880471 42880471 C T SNP MEGF8 ENST00000251268 human ensembl 74_37 +1 known silent c.8082 p.S2694 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 86 0 0 19 12 38.7097 LIPE 0 genome.wustl.edu 37 19 42911769 42911769 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 42911769 42911769 G A SNP LIPE ENST00000244289 human ensembl 74_37 -1 known missense c.1831 p.R611C 0.999 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 133 0 0 30 12 28.5714 CHAF1A 0 genome.wustl.edu 37 19 4430584 4430584 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 4430584 4430584 C T SNP CHAF1A ENST00000301280 human ensembl 74_37 +1 known silent c.1893 p.D631 0.727 pfam_CAF1A pfam_CAF1A - no_errors CHAF1A HGNC ENSG00000167670 185 0 0 40 23 36.5079 SEMA6B 0 genome.wustl.edu 37 19 4558377 4558377 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 4558377 4558377 C T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known silent c.93 p.P31 0.973 pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 9 0 0 1 6 85.7143 ZC3H4 0 genome.wustl.edu 37 19 47572412 47572412 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 47572412 47572412 C G SNP ZC3H4 ENST00000253048 human ensembl 74_37 -1 known missense c.2335 p.E779Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H4 HGNC ENSG00000130749 260 0 0 66 35 34.6535 SLC8A2 0 genome.wustl.edu 37 19 47969509 47969509 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 47969509 47969509 G T SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known missense c.152 p.P51Q 0.980 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 17 0 0 11 7 38.8889 TPRX2P 0 genome.wustl.edu 37 19 48337743 48337743 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 48337743 48337743 G A SNP TPRX2P ENST00000535362 human ensembl 74_37 +1 known missense c.43 p.A15T 0.997 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TPRX2P HGNC ENSG00000259009 100 0 0 26 16 38.0952 GRIN2D 0 genome.wustl.edu 37 19 48918144 48918144 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 48918144 48918144 C T SNP GRIN2D ENST00000263269 human ensembl 74_37 +1 known missense c.1436 p.P479L 0.983 smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2D HGNC ENSG00000105464 218 0 0 48 28 36.8421 LMTK3 0 genome.wustl.edu 37 19 49001494 49001494 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 49001494 49001494 C T SNP LMTK3 ENST00000270238 human ensembl 74_37 -1 known silent c.2919 p.A973 0.088 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 200 0 0 48 28 36.8421 ARRDC5 0 genome.wustl.edu 37 19 4902691 4902691 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 4902691 4902691 G A SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known silent c.189 p.Y63 0.035 pfam_Arrestin-like_N,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 317 0 0 82 56 40.5797 TULP2 0 genome.wustl.edu 37 19 49388705 49388705 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 49388705 49388705 C A SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known missense c.1061 p.R354I 1.000 pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 152 1 0.653595 73 25 25.5102 HRC 0 genome.wustl.edu 37 19 49658225 49658225 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 49658225 49658225 C A SNP HRC ENST00000252825 human ensembl 74_37 -1 known missense c.270 p.K90N 0.008 NULL pfam_Hist_rich_Ca-bd - no_errors HRC HGNC ENSG00000130528 186 0 0 72 26 26.5306 AP2A1 0 genome.wustl.edu 37 19 50302631 50302631 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 50302631 50302631 T C SNP AP2A1 ENST00000354293 human ensembl 74_37 +1 known missense c.1013 p.L338P 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A1 HGNC ENSG00000196961 46 0 0 13 5 27.7778 NUP62 0 genome.wustl.edu 37 19 50411685 50411685 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 50411685 50411685 C T SNP NUP62 ENST00000352066 human ensembl 74_37 -1 known silent c.1380 p.T460 0.002 NULL pfam_Nucleoporin_NSP1_C - no_errors NUP62 HGNC ENSG00000213024 319 0 0 80 37 31.6239 CLEC11A 0 genome.wustl.edu 37 19 51228569 51228569 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 51228569 51228569 G A SNP CLEC11A ENST00000250340 human ensembl 74_37 +1 known missense c.817 p.G273S 0.096 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 CLEC11A HGNC ENSG00000105472 67 0 0 9 7 43.75 KLK4 0 genome.wustl.edu 37 19 51411929 51411929 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 51411929 51411929 G A SNP KLK4 ENST00000324041 human ensembl 74_37 -1 known silent c.381 p.S127 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 KLK4 HGNC ENSG00000167749 123 0 0 42 27 39.1304 KLK5 0 genome.wustl.edu 37 19 51453227 51453227 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 51453227 51453227 G A SNP KLK5 ENST00000336334 human ensembl 74_37 -1 known silent c.219 p.C73 0.707 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 KLK5 HGNC ENSG00000167754 63 0 0 15 3 16.6667 KLK10 0 genome.wustl.edu 37 19 51518125 51518125 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 51518125 51518125 C T SNP KLK10 ENST00000309958 human ensembl 74_37 -1 known silent c.762 p.Q254 1.000 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 KLK10 HGNC ENSG00000129451 173 0 0 62 19 23.4568 ZNF320 0 genome.wustl.edu 37 19 53384267 53384267 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 53384267 53384267 C T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.1112 p.R371H 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 ZNF320 HGNC ENSG00000182986 215 0 0 123 52 29.7143 ZNF665 0 genome.wustl.edu 37 19 53668313 53668313 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 53668313 53668313 C T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.1430 p.R477Q 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF665 HGNC ENSG00000197497 164 0 0 83 44 34.6457 ZNF665 0 genome.wustl.edu 37 19 53669274 53669274 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 53669274 53669274 G A SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.469 p.H157Y 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 ZNF665 HGNC ENSG00000197497 165 0 0 87 60 40.8163 PRKCG 0 genome.wustl.edu 37 19 54401692 54401692 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 54401692 54401692 A G SNP PRKCG ENST00000540413 human ensembl 74_37 +1 known splice_site c.1093-2 e11-2 1.000 - - - no_errors PRKCG HGNC ENSG00000126583 128 0 0 26 15 36.5854 LAIR1 0 genome.wustl.edu 37 19 54866912 54866912 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 54866912 54866912 C T SNP LAIR1 ENST00000391742 human ensembl 74_37 -1 known missense c.829 p.E277K 0.002 NULL smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 262 0 0 83 43 34.127 NLRP7 0 genome.wustl.edu 37 19 55450565 55450565 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 55450565 55450565 C T SNP NLRP7 ENST00000446217 human ensembl 74_37 -1 known missense c.1706 p.R569Q 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 139 0 0 56 32 36.3636 ENSG00000267149 0 genome.wustl.edu 37 19 55556400 55556400 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 55556400 55556400 G A SNP ENSG00000267149 ENST00000585492 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTC-550B14.6 Clone_based_vega_gene ENSG00000267149 52 0 0 15 7 31.8182 EPS8L1 0 genome.wustl.edu 37 19 55594834 55594834 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 55594834 55594834 G A SNP EPS8L1 ENST00000201647 human ensembl 74_37 +1 known missense c.1303 p.A435T 0.769 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L1 HGNC ENSG00000131037 47 0 0 13 8 38.0952 PTPRH 0 genome.wustl.edu 37 19 55715343 55715343 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 55715343 55715343 G A SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known silent c.693 p.P231 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 PTPRH HGNC ENSG00000080031 150 0 0 67 43 39.0909 CCDC106 0 genome.wustl.edu 37 19 56163869 56163869 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 56163869 56163869 G A SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known silent c.600 p.S200 0.013 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 95 0 0 27 15 35.7143 U2AF2 0 genome.wustl.edu 37 19 56172557 56172557 + Splice_Site SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 56172557 56172557 T C SNP U2AF2 ENST00000308924 human ensembl 74_37 +1 known splice_site c.486+2 e5+2 1.000 - - - no_errors U2AF2 HGNC ENSG00000063244 37 0 0 13 14 51.8519 ZNF667 0 genome.wustl.edu 37 19 56952725 56952725 + Silent SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 56952725 56952725 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known silent c.2023 p.R675 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 115 0 0 66 35 34.6535 ZNF460 0 genome.wustl.edu 37 19 57803352 57803352 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 57803352 57803352 C T SNP ZNF460 ENST00000360338 human ensembl 74_37 +1 known silent c.1443 p.C481 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 ZNF460 HGNC ENSG00000197714 148 0 0 61 35 36.4583 ZNF324B 0 genome.wustl.edu 37 19 58967034 58967034 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 58967034 58967034 G A SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known silent c.723 p.S241 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 ZNF324B HGNC ENSG00000249471 54 0 0 15 9 37.5 ZNF446 0 genome.wustl.edu 37 19 58988901 58988901 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 58988901 58988901 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known missense c.316 p.H106Y 0.300 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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_Tscrpt_reg_SCAN - no_errors ZNF446 HGNC ENSG00000083838 95 0 0 24 16 40 RPL23AP79 0 genome.wustl.edu 37 19 59097549 59097549 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 59097549 59097549 G A SNP RPL23AP79 ENST00000473164 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors RPL23AP79 HGNC ENSG00000213753 24 0 0 9 6 40 GTF2F1 0 genome.wustl.edu 37 19 6380351 6380351 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 6380351 6380351 G A SNP GTF2F1 ENST00000394456 human ensembl 74_37 -1 known nonsense c.1495 p.R499* 1.000 pfam_TFIIF-alpha pfam_TFIIF-alpha,superfamily_TFIIF_interaction - no_errors GTF2F1 HGNC ENSG00000125651 484 2 0.411523 142 77 35.1598 MISP 0 genome.wustl.edu 37 19 758107 758107 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 758107 758107 C T SNP MISP ENST00000215582 human ensembl 74_37 +1 known silent c.1161 p.P387 0.000 NULL NULL - no_errors MISP HGNC ENSG00000099812 40 0 0 15 7 31.8182 STXBP2 0 genome.wustl.edu 37 19 7704641 7704641 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 7704641 7704641 G A SNP STXBP2 ENST00000221283 human ensembl 74_37 +1 known missense c.194 p.R65Q 0.634 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 60 0 0 19 15 44.1176 MAP2K7 0 genome.wustl.edu 37 19 7975374 7975374 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 7975374 7975374 C T SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.610 p.R204C 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 MAP2K7 HGNC ENSG00000076984 50 0 0 17 7 29.1667 MAP2K7 0 genome.wustl.edu 37 19 7976016 7976016 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 7976016 7976016 G A SNP MAP2K7 ENST00000545011 human ensembl 74_37 +1 known missense c.953 p.R318Q 0.997 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 MAP2K7 HGNC ENSG00000076984 77 0 0 12 13 52 ELAVL1 0 genome.wustl.edu 37 19 8028518 8028518 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 8028518 8028518 C T SNP ELAVL1 ENST00000351593 human ensembl 74_37 -1 known missense c.911 p.R304H 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 255 0 0 84 48 36.3636 FBN3 0 genome.wustl.edu 37 19 8197972 8197972 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 8197972 8197972 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.1610 p.T537I 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 13 0 0 3 5 62.5 MARCH2 0 genome.wustl.edu 37 19 8495651 8495651 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 8495651 8495651 G A SNP MARCH2 ENST00000215555 human ensembl 74_37 +1 known missense c.482 p.R161H 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH2 HGNC ENSG00000099785 109 0 0 30 20 40 MUC16 0 genome.wustl.edu 37 19 9084370 9084370 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 9084370 9084370 T G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.7445 p.D2482A 0.006 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 133 0 0 42 21 33.3333 OR7D2 0 genome.wustl.edu 37 19 9296544 9296544 + Silent SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 9296544 9296544 G C SNP OR7D2 ENST00000344248 human ensembl 74_37 +1 known silent c.87 p.G29 0.098 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7D2 HGNC ENSG00000188000 100 0 0 44 26 37.1429 ZNF562 0 genome.wustl.edu 37 19 9764018 9764018 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 9764018 9764018 G T SNP ZNF562 ENST00000448622 human ensembl 74_37 -1 known silent c.888 p.S296 0.001 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 ZNF562 HGNC ENSG00000171466 138 0 0 112 9 7.43802 POU3F3 0 genome.wustl.edu 37 2 105473199 105473199 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 105473199 105473199 A G SNP POU3F3 ENST00000361360 human ensembl 74_37 +1 known missense c.1231 p.T411A 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Transcription_factor_POU,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,pirsf_Transcription_factor_POU,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU3F3 HGNC ENSG00000198914 99 0 0 23 9 28.125 IL1B 0 genome.wustl.edu 37 2 113591057 113591057 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 113591057 113591057 C T SNP IL1B ENST00000263341 human ensembl 74_37 -1 known silent c.195 p.A65 0.002 pfam_IL-1_propep,prints_IL-1_beta,prints_IL-1_alpha/beta pfam_IL-1,pfam_IL-1_propep,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1_beta,prints_IL-1_alpha/beta,prints_IL-1,prints_IL-1_fam/FGF_fam,prints_IL-1RA/IL-36 - no_errors IL1B HGNC ENSG00000125538 238 0 0 70 41 36.9369 IL37 0 genome.wustl.edu 37 2 113676235 113676235 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 113676235 113676235 C T SNP IL37 ENST00000263326 human ensembl 74_37 +1 known missense c.506 p.S169L 0.714 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1,prints_IL-1RA/IL-36 - no_errors IL37 HGNC ENSG00000125571 70 0 0 39 22 36.0656 GREB1 0 genome.wustl.edu 37 2 11759033 11759033 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 11759033 11759033 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.4032 p.S1344 0.960 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 10 0 0 7 6 46.1538 LPIN1 0 genome.wustl.edu 37 2 11928551 11928551 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 11928551 11928551 C A SNP LPIN1 ENST00000449576 human ensembl 74_37 +1 known missense c.1829 p.A610E 1.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,superfamily_WD40_repeat_dom,smart_LNS2 - no_errors LPIN1 HGNC ENSG00000134324 132 0 0 57 25 30.4878 C1QL2 0 genome.wustl.edu 37 2 119915212 119915212 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 119915212 119915212 G A SNP C1QL2 ENST00000272520 human ensembl 74_37 -1 known missense c.634 p.R212C 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL2 HGNC ENSG00000144119 60 0 0 28 5 15.1515 C1QL2 0 genome.wustl.edu 37 2 119915381 119915381 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 119915381 119915381 G A SNP C1QL2 ENST00000272520 human ensembl 74_37 -1 known silent c.465 p.S155 0.887 smart_C1q,pfscan_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QL2 HGNC ENSG00000144119 20 0 0 8 4 33.3333 INHBB 0 genome.wustl.edu 37 2 121104067 121104067 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 121104067 121104067 C T SNP INHBB ENST00000295228 human ensembl 74_37 +1 known silent c.303 p.A101 1.000 pfam_TGF-b_N pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,prints_Inhibin_betaB,prints_Inhibin_asu - no_errors INHBB HGNC ENSG00000163083 28 0 0 3 5 62.5 GLI2 0 genome.wustl.edu 37 2 121726317 121726317 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 121726317 121726317 C T SNP GLI2 ENST00000361492 human ensembl 74_37 +1 known missense c.671 p.T224M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 228 0 0 62 13 17.3333 LIMS2 0 genome.wustl.edu 37 2 128399650 128399650 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 128399650 128399650 C T SNP LIMS2 ENST00000324938 human ensembl 74_37 -1 known missense c.706 p.A236T 1.000 pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pirsf_PINCH,pfscan_Znf_LIM - no_errors LIMS2 HGNC ENSG00000072163 43 0 0 10 7 41.1765 PLEKHB2 0 genome.wustl.edu 37 2 131883388 131883388 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 131883388 131883388 T C SNP PLEKHB2 ENST00000303908 human ensembl 74_37 +1 known missense c.100 p.Y34H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHB2 HGNC ENSG00000115762 140 0 0 55 38 40.8602 LOC150776 0 genome.wustl.edu 37 2 132275302 132275302 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 132275302 132275302 C T SNP LOC150776 ENST00000438378 human ensembl 74_37 +1 known rna NULL NULL 0.986 - - - no_errors AC093838.4 Clone_based_vega_gene ENSG00000152117 44 0 0 11 10 47.619 LCT 0 genome.wustl.edu 37 2 136566101 136566101 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 136566101 136566101 G A SNP LCT ENST00000264162 human ensembl 74_37 -1 known silent c.3816 p.T1272 0.253 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 252 0 0 111 60 35.0877 HNMT 0 genome.wustl.edu 37 2 138738920 138738920 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 138738920 138738920 C T SNP HNMT ENST00000329366 human ensembl 74_37 +1 known missense c.325 p.R109C 0.000 NULL NULL - no_errors HNMT HGNC ENSG00000150540 176 0 0 81 31 27.6786 KYNU 0 genome.wustl.edu 37 2 143718233 143718233 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 143718233 143718233 T A SNP KYNU ENST00000264170 human ensembl 74_37 +1 known missense c.623 p.I208N 1.000 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase,tigrfam_Kynureninase - no_errors KYNU HGNC ENSG00000115919 98 0 0 48 19 28.3582 RIF1 0 genome.wustl.edu 37 2 152321548 152321548 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 152321548 152321548 T G SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.5514 p.I1838M 0.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 129 0 0 64 41 39.0476 RIF1 0 genome.wustl.edu 37 2 152324631 152324631 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 152324631 152324631 G A SNP RIF1 ENST00000243326 human ensembl 74_37 +1 known missense c.6718 p.V2240I 1.000 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 84 0 0 47 26 35.6164 NBAS 0 genome.wustl.edu 37 2 15493765 15493765 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 15493765 15493765 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.4001 p.R1334H 0.923 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 247 1 0.403226 83 55 39.8551 FIGN 0 genome.wustl.edu 37 2 164467865 164467865 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 164467865 164467865 T C SNP FIGN ENST00000333129 human ensembl 74_37 -1 known silent c.477 p.T159 0.890 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 117 0 0 62 33 34.7368 SCN1A 0 genome.wustl.edu 37 2 166848723 166848723 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 166848723 166848723 C A SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.5062 p.G1688W 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel 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 286 0 0 109 63 36.6279 SCN1A 0 genome.wustl.edu 37 2 166901611 166901611 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 166901611 166901611 C T SNP SCN1A ENST00000303395 human ensembl 74_37 -1 known missense c.1604 p.R535H 1.000 pfam_DUF3451 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 205 0 0 104 48 31.5789 SCN7A 0 genome.wustl.edu 37 2 167327173 167327173 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 167327173 167327173 G T SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.616 p.Q206K 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 42 0 0 12 12 50 SP5 0 genome.wustl.edu 37 2 171573014 171573014 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 171573014 171573014 G A SNP SP5 ENST00000375281 human ensembl 74_37 +1 known silent c.297 p.T99 0.124 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP5 HGNC ENSG00000204335 56 0 0 16 5 23.8095 EVX2 0 genome.wustl.edu 37 2 176945393 176945393 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 176945393 176945393 G A SNP EVX2 ENST00000308618 human ensembl 74_37 -1 known silent c.873 p.G291 0.450 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1,prints_Homeobox_metazoa - no_errors EVX2 HGNC ENSG00000174279 30 0 0 2 2 50 TTN 0 genome.wustl.edu 37 2 179452435 179452435 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 179452435 179452435 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known nonsense c.55897 p.R18633* 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 78 0 0 12 15 55.5556 TTN 0 genome.wustl.edu 37 2 179517650 179517650 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 179517650 179517650 C G SNP TTN ENST00000589042 human ensembl 74_37 -1 putative missense c.38884 p.A12962P 0.025 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 243 0 0 41 46 52.8736 TTN 0 genome.wustl.edu 37 2 179634421 179634421 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 179634421 179634421 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.8887 p.T2963P 1.000 superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 128 1 0.775194 34 36 51.4286 TTN 0 genome.wustl.edu 37 2 179638766 179638766 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 179638766 179638766 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7129 p.V2377F 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 167 0 0 34 35 50.7246 COL5A2 0 genome.wustl.edu 37 2 189953419 189953419 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 189953419 189953419 A G SNP COL5A2 ENST00000374866 human ensembl 74_37 -1 known splice_site c.645+2 e8+2 1.000 - - - no_errors COL5A2 HGNC ENSG00000204262 164 0 0 30 29 49.1525 C2orf66 0 genome.wustl.edu 37 2 197672333 197672333 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 197672333 197672333 A C SNP C2orf66 ENST00000342506 human ensembl 74_37 -1 known missense c.188 p.L63R 1.000 NULL NULL - no_errors C2orf66 HGNC ENSG00000187944 225 0 0 88 43 32.8244 NDUFB3 0 genome.wustl.edu 37 2 201943742 201943742 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 201943742 201943742 G A SNP NDUFB3 ENST00000237889 human ensembl 74_37 +1 known missense c.137 p.G46D 0.978 pfam_NDUFB3 pfam_NDUFB3 - no_errors NDUFB3 HGNC ENSG00000119013 50 0 0 25 14 35.8974 BMPR2 0 genome.wustl.edu 37 2 203383649 203383649 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 203383649 203383649 C T SNP BMPR2 ENST00000374580 human ensembl 74_37 +1 known silent c.726 p.N242 0.994 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors BMPR2 HGNC ENSG00000204217 199 0 0 96 54 36 NRP2 0 genome.wustl.edu 37 2 206608102 206608102 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 206608102 206608102 G A SNP NRP2 ENST00000360409 human ensembl 74_37 +1 known silent c.1467 p.Q489 1.000 pirsf_Neuropilin,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 pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,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 138 0 0 59 27 31.3953 FASTKD2 0 genome.wustl.edu 37 2 207655375 207655375 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 207655375 207655375 C T SNP FASTKD2 ENST00000236980 human ensembl 74_37 +1 known missense c.1978 p.R660W 0.993 pfam_RAP,smart_RAP pfam_FAST_Leu-rich,pfam_FAST_2,pfam_RAP,smart_RAP - no_errors FASTKD2 HGNC ENSG00000118246 224 0 0 97 42 30.2158 CRYGEP 0 genome.wustl.edu 37 2 208977023 208977023 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 208977023 208977023 G A SNP CRYGEP ENST00000440809 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors CRYGEP HGNC ENSG00000229150 30 0 0 9 3 25 IDH1 0 genome.wustl.edu 37 2 209104637 209104637 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 209104637 209104637 C T SNP IDH1 ENST00000345146 human ensembl 74_37 -1 known missense c.941 p.R314H 0.999 pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP pfam_IsoPropMal-DH-like_dom,pirsf_Isocitrate_DH_NADP,tigrfam_Isocitrate_DH_NADP - no_errors IDH1 HGNC ENSG00000138413 150 0 0 62 42 40.3846 MAP2 0 genome.wustl.edu 37 2 210558967 210558967 + Silent SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 210558967 210558967 T A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known silent c.2073 p.G691 0.005 pfam_MAP2_projctn pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 281 0 0 134 72 34.9515 MAP2 0 genome.wustl.edu 37 2 210588406 210588406 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 210588406 210588406 G A SNP MAP2 ENST00000199940 human ensembl 74_37 +1 known missense c.1264 p.G422R 1.000 pfam_MAP_tubulin-bd_rpt pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 76 0 0 27 20 42.5532 LANCL1 0 genome.wustl.edu 37 2 211306124 211306124 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 211306124 211306124 T C SNP LANCL1 ENST00000233714 human ensembl 74_37 -1 known missense c.451 p.M151V 1.000 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL1 HGNC ENSG00000115365 248 0 0 115 42 26.7516 APOB 0 genome.wustl.edu 37 2 21225676 21225676 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 21225676 21225676 C T SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.12618 p.G4206 0.021 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 88 0 0 53 27 33.75 MREG 0 genome.wustl.edu 37 2 216810399 216810399 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 216810399 216810399 A C SNP MREG ENST00000263268 human ensembl 74_37 -1 known missense c.405 p.D135E 1.000 NULL NULL - no_errors MREG HGNC ENSG00000118242 64 0 0 34 18 34.6154 ARPC2 0 genome.wustl.edu 37 2 219118720 219118720 + RNA SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 219118720 219118720 G T SNP ARPC2 ENST00000477992 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARPC2 HGNC ENSG00000163466 63 0 0 29 16 35.5556 C2orf62 0 genome.wustl.edu 37 2 219227522 219227522 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 219227522 219227522 C T SNP C2orf62 ENST00000289388 human ensembl 74_37 +1 known missense c.527 p.A176V 1.000 NULL superfamily_cAMP_dep_PK_reg_su_I/II_a/b - no_errors C2orf62 HGNC ENSG00000158428 143 0 0 55 29 34.5238 ABCB6 0 genome.wustl.edu 37 2 220080779 220080779 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 220080779 220080779 C T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.1094 p.R365H 0.997 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 ABCB6 HGNC ENSG00000115657 24 0 0 8 2 20 SPEG 0 genome.wustl.edu 37 2 220299720 220299720 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 220299720 220299720 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel silent c.21 p.T7 0.976 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 10 0 0 1 3 75 OBSL1 0 genome.wustl.edu 37 2 220418391 220418391 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 220418391 220418391 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.4894 p.V1632M 0.978 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 59 0 0 16 6 27.2727 OBSL1 0 genome.wustl.edu 37 2 220428089 220428089 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 220428089 220428089 C T SNP OBSL1 ENST00000404537 human ensembl 74_37 -1 known missense c.2668 p.V890I 0.907 smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors OBSL1 HGNC ENSG00000124006 45 0 0 9 7 43.75 SLC4A3 0 genome.wustl.edu 37 2 220500425 220500425 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 220500425 220500425 C A SNP SLC4A3 ENST00000273063 human ensembl 74_37 +1 known missense c.2084 p.A695E 0.007 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 28 0 0 6 2 25 ACSL3 0 genome.wustl.edu 37 2 223791818 223791818 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 223791818 223791818 C T SNP ACSL3 ENST00000357430 human ensembl 74_37 +1 known missense c.1376 p.T459M 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL3 HGNC ENSG00000123983 108 0 0 57 23 28.75 SCG2 0 genome.wustl.edu 37 2 224463302 224463302 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 224463302 224463302 G T SNP SCG2 ENST00000305409 human ensembl 74_37 -1 known silent c.699 p.I233 0.034 pfam_Granin pfam_Granin - no_errors SCG2 HGNC ENSG00000171951 273 1 0.364964 157 79 33.4746 NMUR1 0 genome.wustl.edu 37 2 232393263 232393263 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 232393263 232393263 C T SNP NMUR1 ENST00000305141 human ensembl 74_37 -1 known missense c.469 p.V157M 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_1,prints_NeuromedU_rcpt,prints_GPCR_Rhodpsn - no_errors NMUR1 HGNC ENSG00000171596 103 0 0 31 16 34.0426 ECEL1 0 genome.wustl.edu 37 2 233346298 233346298 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 233346298 233346298 G A SNP ECEL1 ENST00000304546 human ensembl 74_37 -1 known missense c.1907 p.T636M 1.000 pfam_Peptidase_M13_C pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors ECEL1 HGNC ENSG00000171551 92 0 0 16 11 40.7407 LOC100286922 0 genome.wustl.edu 37 2 234663836 234663836 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 234663836 234663836 G A SNP LOC100286922 ENST00000389816 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors AC114812.5 Clone_based_vega_gene ENSG00000178836 106 0 0 38 7 15.5556 COL6A3 0 genome.wustl.edu 37 2 238277492 238277492 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 238277492 238277492 G A SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known silent c.4614 p.D1538 0.020 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 154 0 0 62 40 39.2157 ASB1 0 genome.wustl.edu 37 2 239353002 239353002 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 239353002 239353002 G A SNP ASB1 ENST00000264607 human ensembl 74_37 +1 known missense c.514 p.V172I 0.992 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 85 0 0 25 16 39.0244 PRR21 0 genome.wustl.edu 37 2 240981445 240981445 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 240981445 240981445 G A SNP PRR21 ENST00000408934 human ensembl 74_37 -1 known missense c.955 p.R319W 0.000 NULL NULL - no_errors PRR21 HGNC ENSG00000221961 235 0 0 47 20 29.8507 KIF1A 0 genome.wustl.edu 37 2 241712648 241712648 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 241712648 241712648 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.1063 p.R355C 1.000 superfamily_P-loop_NTPase,smart_Kinesin_motor_dom 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 KIF1A HGNC ENSG00000130294 123 0 0 36 16 30.7692 HDLBP 0 genome.wustl.edu 37 2 242170272 242170272 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 242170272 242170272 G A SNP HDLBP ENST00000310931 human ensembl 74_37 -1 known nonsense c.3376 p.Q1126* 0.999 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 132 0 0 49 17 25.7576 D2HGDH 0 genome.wustl.edu 37 2 242707374 242707374 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 242707374 242707374 G A SNP D2HGDH ENST00000321264 human ensembl 74_37 +1 known missense c.1556 p.S519N 0.004 superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors D2HGDH HGNC ENSG00000180902 18 0 0 6 2 25 TTC27 0 genome.wustl.edu 37 2 33002975 33002975 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 33002975 33002975 T C SNP TTC27 ENST00000317907 human ensembl 74_37 +1 known silent c.1707 p.C569 1.000 pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC27 HGNC ENSG00000018699 99 0 0 34 14 29.1667 COLEC11 0 genome.wustl.edu 37 2 3651971 3651971 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 3651971 3651971 T C SNP COLEC11 ENST00000418971 human ensembl 74_37 +1 known missense c.83 p.L28P 1.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors COLEC11 HGNC ENSG00000118004 252 0 0 75 42 35.8974 STRN 0 genome.wustl.edu 37 2 37132704 37132704 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 37132704 37132704 T C SNP STRN ENST00000263918 human ensembl 74_37 -1 known missense c.470 p.Q157R 1.000 pfam_Striatin_N pfam_Striatin_N,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 STRN HGNC ENSG00000115808 128 0 0 87 35 28.6885 CDC42EP3 0 genome.wustl.edu 37 2 37873629 37873629 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 37873629 37873629 C T SNP CDC42EP3 ENST00000295324 human ensembl 74_37 -1 known silent c.102 p.P34 0.008 pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom pfam_CRIB_dom,smart_CRIB_dom,pfscan_CRIB_dom - no_errors CDC42EP3 HGNC ENSG00000163171 300 0 0 164 18 9.89011 CYP1B1 0 genome.wustl.edu 37 2 38298186 38298186 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 38298186 38298186 C T SNP CYP1B1 ENST00000260630 human ensembl 74_37 -1 known silent c.1311 p.P437 0.003 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1B1 HGNC ENSG00000138061 98 0 0 36 26 41.9355 OXER1 0 genome.wustl.edu 37 2 42990345 42990345 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 42990345 42990345 G A SNP OXER1 ENST00000378661 human ensembl 74_37 -1 known silent c.975 p.S325 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors OXER1 HGNC ENSG00000162881 44 0 0 12 5 29.4118 SOCS5 0 genome.wustl.edu 37 2 46986977 46986977 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 46986977 46986977 C G SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known missense c.1308 p.N436K 1.000 pfam_SH2,smart_SH2,pfscan_SH2 pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 198 0 0 103 44 29.932 NRXN1 0 genome.wustl.edu 37 2 51253549 51253549 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 51253549 51253549 T C SNP NRXN1 ENST00000404971 human ensembl 74_37 -1 novel silent c.831 p.G277 0.003 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 17 0 0 9 2 18.1818 RTN4 0 genome.wustl.edu 37 2 55254522 55254522 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 55254522 55254522 A G SNP RTN4 ENST00000337526 human ensembl 74_37 -1 known missense c.713 p.L238P 0.993 NULL pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 98 0 0 44 25 36.2319 LGALSL 0 genome.wustl.edu 37 2 64685463 64685463 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 64685463 64685463 T C SNP LGALSL ENST00000409537 human ensembl 74_37 +1 putative missense c.242 p.M81T 1.000 NULL superfamily_ConA-like_lec_gl_sf - no_errors LGALSL HGNC ENSG00000119862 309 0 0 118 84 41.5842 GFPT1 0 genome.wustl.edu 37 2 69577301 69577301 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 69577301 69577301 C T SNP GFPT1 ENST00000357308 human ensembl 74_37 -1 known missense c.754 p.G252R 1.000 NULL pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT1 HGNC ENSG00000198380 62 0 0 27 15 35.7143 ANXA4 0 genome.wustl.edu 37 2 70033528 70033528 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 70033528 70033528 C T SNP ANXA4 ENST00000394295 human ensembl 74_37 +1 known silent c.204 p.D68 0.230 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinIV,prints_AnnexinV - no_errors ANXA4 HGNC ENSG00000196975 91 0 0 27 17 38.6364 PCYOX1 0 genome.wustl.edu 37 2 70502205 70502205 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 70502205 70502205 G A SNP PCYOX1 ENST00000433351 human ensembl 74_37 +1 known silent c.609 p.L203 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Amino_oxidase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1 HGNC ENSG00000116005 211 0 0 142 15 9.55414 RNF144A 0 genome.wustl.edu 37 2 7137076 7137076 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 7137076 7137076 C T SNP RNF144A ENST00000320892 human ensembl 74_37 +1 known missense c.19 p.R7W 1.000 NULL pfam_Znf_C6HC,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF144A HGNC ENSG00000151692 81 0 0 44 7 13.7255 ZNF638 0 genome.wustl.edu 37 2 71576560 71576560 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 71576560 71576560 G A SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.476 p.R159H 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 101 0 0 55 30 35.2941 CCT7 0 genome.wustl.edu 37 2 73477497 73477497 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 73477497 73477497 C T SNP CCT7 ENST00000258091 human ensembl 74_37 +1 known silent c.1134 p.A378 0.905 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 258 0 0 98 54 35.5263 KDM3A 0 genome.wustl.edu 37 2 86669239 86669239 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 86669239 86669239 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.69 p.A23 0.885 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 156 1 0.636943 35 19 35.1852 KDM3A 0 genome.wustl.edu 37 2 86705071 86705071 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 86705071 86705071 A G SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known missense c.2011 p.N671D 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 202 0 0 71 44 38.2609 TEKT4 0 genome.wustl.edu 37 2 95537341 95537341 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 95537341 95537341 C T SNP TEKT4 ENST00000295201 human ensembl 74_37 +1 known missense c.17 p.P6L 0.011 NULL pfam_Tektin,prints_Tektin - no_errors TEKT4 HGNC ENSG00000163060 24 0 0 8 4 33.3333 CNGA3 0 genome.wustl.edu 37 2 98996645 98996645 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 98996645 98996645 C T SNP CNGA3 ENST00000272602 human ensembl 74_37 +1 known missense c.223 p.R75C 0.271 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 109 0 0 35 22 38.5965 DEFB126 0 genome.wustl.edu 37 20 126054 126054 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 126054 126054 A G SNP DEFB126 ENST00000382398 human ensembl 74_37 +1 known splice_site c.59-2 e2-2 0.413 - - - no_errors DEFB126 HGNC ENSG00000125788 74 0 0 35 13 27.0833 OTOR 0 genome.wustl.edu 37 20 16730619 16730619 + Silent SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 16730619 16730619 T G SNP OTOR ENST00000246081 human ensembl 74_37 +1 known silent c.327 p.R109 0.902 superfamily_SH3_domain,smart_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors OTOR HGNC ENSG00000125879 56 0 0 29 16 35.5556 SIRPA 0 genome.wustl.edu 37 20 1902058 1902058 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 1902058 1902058 G A SNP SIRPA ENST00000400068 human ensembl 74_37 +1 known missense c.454 p.V152M 0.052 pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPA HGNC ENSG00000198053 88 0 0 39 24 38.0952 SLC24A3 0 genome.wustl.edu 37 20 19674007 19674007 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 19674007 19674007 A G SNP SLC24A3 ENST00000328041 human ensembl 74_37 +1 known missense c.1429 p.M477V 0.992 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A3 HGNC ENSG00000185052 137 0 0 33 23 41.0714 GZF1 0 genome.wustl.edu 37 20 23346365 23346365 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 23346365 23346365 G A SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1345 p.A449T 0.966 pfam_Znf_C2H2,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 GZF1 HGNC ENSG00000125812 35 0 0 8 10 55.5556 GZF1 0 genome.wustl.edu 37 20 23346366 23346366 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 23346366 23346366 C T SNP GZF1 ENST00000338121 human ensembl 74_37 +1 known missense c.1346 p.A449V 0.967 pfam_Znf_C2H2,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 GZF1 HGNC ENSG00000125812 35 0 0 13 4 23.5294 ZNF337 0 genome.wustl.edu 37 20 25655896 25655896 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 25655896 25655896 C A SNP ZNF337 ENST00000252979 human ensembl 74_37 -1 known missense c.2028 p.W676C 0.077 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 ZNF337 HGNC ENSG00000130684 134 0 0 74 42 36.2069 BPIFB4 0 genome.wustl.edu 37 20 31671663 31671663 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 31671663 31671663 T C SNP BPIFB4 ENST00000375483 human ensembl 74_37 +1 known silent c.660 p.T220 0.984 pfam_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB4 HGNC ENSG00000186191 141 0 0 44 5 10.2041 CPNE1 0 genome.wustl.edu 37 20 34218844 34218844 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 34218844 34218844 C T SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known missense c.989 p.S330N 0.920 pfam_Copine,smart_VWF_A pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 235 0 0 69 23 25 DLGAP4 0 genome.wustl.edu 37 20 35064650 35064650 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 35064650 35064650 G A SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1138 p.E380K 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 46 0 0 15 6 28.5714 ACTR5 0 genome.wustl.edu 37 20 37396225 37396225 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 37396225 37396225 C T SNP ACTR5 ENST00000243903 human ensembl 74_37 +1 known missense c.1552 p.R518W 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR5 HGNC ENSG00000101442 120 0 0 52 28 35 LPIN3 0 genome.wustl.edu 37 20 39976275 39976275 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 39976275 39976275 G A SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known silent c.276 p.L92 0.992 pfam_Lipin_N pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 79 0 0 16 7 30.4348 KCNK15 0 genome.wustl.edu 37 20 43379180 43379180 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 43379180 43379180 C A SNP KCNK15 ENST00000372861 human ensembl 74_37 +1 known missense c.694 p.L232I 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_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 156 0 0 48 22 31.4286 KCNS1 0 genome.wustl.edu 37 20 43723770 43723770 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 43723770 43723770 C T SNP KCNS1 ENST00000306117 human ensembl 74_37 -1 known missense c.1322 p.C441Y 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6 - no_errors KCNS1 HGNC ENSG00000124134 115 0 0 54 23 29.8701 SPATA25 0 genome.wustl.edu 37 20 44515176 44515176 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 44515176 44515176 G A SNP SPATA25 ENST00000372519 human ensembl 74_37 -1 known missense c.664 p.P222S 1.000 NULL NULL - no_errors SPATA25 HGNC ENSG00000149634 462 0 0 133 54 28.877 PCIF1 0 genome.wustl.edu 37 20 44569534 44569534 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 44569534 44569534 G A SNP PCIF1 ENST00000372409 human ensembl 74_37 +1 known silent c.474 p.T158 0.668 NULL pfam_PCIF1_WW,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors PCIF1 HGNC ENSG00000100982 184 0 0 80 7 8.04598 NCOA5 0 genome.wustl.edu 37 20 44691344 44691344 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 44691344 44691344 C A SNP NCOA5 ENST00000290231 human ensembl 74_37 -1 known silent c.1335 p.T445 0.984 NULL superfamily_Anticodon-bd - no_errors NCOA5 HGNC ENSG00000124160 341 0 0 110 31 21.9858 NCOA3 0 genome.wustl.edu 37 20 46265284 46265284 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 46265284 46265284 C T SNP NCOA3 ENST00000371998 human ensembl 74_37 +1 known silent c.2154 p.D718 0.237 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 137 1 0.724638 50 31 38.2716 MOCS3 0 genome.wustl.edu 37 20 49576279 49576279 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 49576279 49576279 C T SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known silent c.900 p.C300 0.791 pfam_MoeZ_MoeB,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 153 0 0 55 29 34.5238 TSHZ2 0 genome.wustl.edu 37 20 51870903 51870903 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 51870903 51870903 A C SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.906 p.K302N 1.000 pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 130 0 0 39 30 43.4783 MC3R 0 genome.wustl.edu 37 20 54824313 54824313 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 54824313 54824313 C T SNP MC3R ENST00000243911 human ensembl 74_37 +1 known silent c.414 p.I138 0.925 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 138 0 0 48 43 47.2527 LRRN4 0 genome.wustl.edu 37 20 6022103 6022103 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 6022103 6022103 C T SNP LRRN4 ENST00000378858 human ensembl 74_37 -1 known silent c.1788 p.A596 0.004 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LRRN4 HGNC ENSG00000125872 163 0 0 39 18 31.5789 CDH4 0 genome.wustl.edu 37 20 60508125 60508125 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 60508125 60508125 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known silent c.2322 p.D774 1.000 pfam_Cadherin_cytoplasmic-dom,prints_Cadherin/Desmocollin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 173 0 0 35 15 30 FERMT1 0 genome.wustl.edu 37 20 6075585 6075585 + Splice_Site SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 6075585 6075585 C G SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known splice_site c.1139+1 e8+1 1.000 - - - no_errors FERMT1 HGNC ENSG00000101311 135 0 0 52 25 32.4675 BIRC7 0 genome.wustl.edu 37 20 61870935 61870935 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 61870935 61870935 G C SNP BIRC7 ENST00000217169 human ensembl 74_37 +1 known missense c.875 p.R292P 0.841 NULL pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC7 HGNC ENSG00000101197 41 0 0 15 7 31.8182 KCNQ2 0 genome.wustl.edu 37 20 62044868 62044868 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 62044868 62044868 G A SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known silent c.1614 p.D538 0.880 pfam_K_chnl_volt-dep_KCNQ_C pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 285 0 0 55 43 43.8776 PAK7 0 genome.wustl.edu 37 20 9546559 9546559 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 9546559 9546559 C T SNP PAK7 ENST00000353224 human ensembl 74_37 -1 known missense c.1463 p.R488Q 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 PAK7 HGNC ENSG00000101349 293 0 0 144 87 37.6623 NCAM2 0 genome.wustl.edu 37 21 22838932 22838932 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 22838932 22838932 G A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.1660 p.V554I 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_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,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 16 0 0 9 8 47.0588 ADAMTS5 0 genome.wustl.edu 37 21 28315748 28315748 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 28315748 28315748 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known nonsense c.1356 p.W452* 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 50 0 0 15 10 40 ADAMTS5 0 genome.wustl.edu 37 21 28337871 28337871 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 28337871 28337871 C T SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known silent c.840 p.A280 0.968 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 32 0 0 19 4 17.3913 N6AMT1 0 genome.wustl.edu 37 21 30250634 30250634 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 30250634 30250634 C G SNP N6AMT1 ENST00000303775 human ensembl 74_37 -1 known missense c.418 p.A140P 1.000 pfam_Small_mtfrase_dom,tigrfam_PrmC_related pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_PrmC_related - no_errors N6AMT1 HGNC ENSG00000156239 198 0 0 103 21 16.9355 KRTAP19-1 0 genome.wustl.edu 37 21 31852451 31852451 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 31852451 31852451 G A SNP KRTAP19-1 ENST00000390689 human ensembl 74_37 -1 known silent c.186 p.Y62 0.018 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-1 HGNC ENSG00000184351 759 1 0.131579 171 62 26.6094 C21orf62 0 genome.wustl.edu 37 21 34166443 34166443 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 34166443 34166443 G A SNP C21orf62 ENST00000479548 human ensembl 74_37 -1 known missense c.290 p.T97M 0.995 NULL NULL - no_errors C21orf62 HGNC ENSG00000205929 107 1 0.925926 30 23 43.3962 OLIG2 0 genome.wustl.edu 37 21 34399327 34399327 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 34399327 34399327 G A SNP OLIG2 ENST00000333337 human ensembl 74_37 +1 known missense c.157 p.A53T 0.178 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors OLIG2 HGNC ENSG00000205927 34 0 0 10 3 23.0769 ERG 0 genome.wustl.edu 37 21 39795450 39795450 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 39795450 39795450 G A SNP ERG ENST00000398919 human ensembl 74_37 -1 known silent c.291 p.G97 0.982 NULL 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 100 0 0 23 23 50 MX2 0 genome.wustl.edu 37 21 42771150 42771150 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 42771150 42771150 G A SNP MX2 ENST00000330714 human ensembl 74_37 +1 known missense c.1300 p.E434K 0.001 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors MX2 HGNC ENSG00000183486 171 0 0 43 39 47.561 ABCG1 0 genome.wustl.edu 37 21 43708071 43708071 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 43708071 43708071 G A SNP ABCG1 ENST00000398437 human ensembl 74_37 +1 known missense c.1484 p.C495Y 1.000 tigrfam_Pigment_permease pfam_ABC_2_trans,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Pigment_permease - no_errors ABCG1 HGNC ENSG00000160179 442 0 0 88 50 36.2319 U2AF1 0 genome.wustl.edu 37 21 44520688 44520688 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 44520688 44520688 G A SNP U2AF1 ENST00000486519 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors U2AF1 HGNC ENSG00000160201 47 0 0 22 8 26.6667 TRPM2 0 genome.wustl.edu 37 21 45789117 45789117 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 45789117 45789117 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.662 p.A221V 0.998 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 47 0 0 13 3 18.75 TRPM2 0 genome.wustl.edu 37 21 45859042 45859042 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 45859042 45859042 C T SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known silent c.4260 p.C1420 0.024 superfamily_NUDIX_hydrolase_dom-like pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 105 0 0 21 6 22.2222 LRRC3 0 genome.wustl.edu 37 21 45876981 45876981 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 45876981 45876981 G A SNP LRRC3 ENST00000291592 human ensembl 74_37 +1 known missense c.454 p.A152T 0.936 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3 HGNC ENSG00000160233 105 0 0 26 10 27.7778 TSPEAR 0 genome.wustl.edu 37 21 45953801 45953801 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 45953801 45953801 G A SNP TSPEAR ENST00000323084 human ensembl 74_37 -1 known silent c.309 p.N103 0.996 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 53 0 0 11 5 31.25 COL6A2 0 genome.wustl.edu 37 21 47546124 47546124 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 47546124 47546124 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2395 p.D799N 0.999 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 642 0 0 101 72 41.6185 CECR5 0 genome.wustl.edu 37 22 17622001 17622001 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 17622001 17622001 C T SNP CECR5 ENST00000336737 human ensembl 74_37 -1 known missense c.694 p.V232I 0.924 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA - no_errors CECR5 HGNC ENSG00000069998 118 0 0 24 13 35.1351 ARVCF 0 genome.wustl.edu 37 22 19967640 19967640 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 19967640 19967640 C T SNP ARVCF ENST00000263207 human ensembl 74_37 -1 known missense c.1022 p.R341Q 0.974 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARVCF HGNC ENSG00000099889 31 0 0 9 6 40 DGCR8 0 genome.wustl.edu 37 22 20073637 20073637 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 20073637 20073637 G A SNP DGCR8 ENST00000351989 human ensembl 74_37 +1 known missense c.151 p.V51I 1.000 NULL pfam_dsRNA-bd_dom,superfamily_WW_dom,smart_WW_dom,smart_dsRNA-bd_dom,pfscan_WW_dom,pfscan_dsRNA-bd_dom - no_errors DGCR8 HGNC ENSG00000128191 151 0 0 52 23 30.6667 PPM1F 0 genome.wustl.edu 37 22 22277735 22277735 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 22277735 22277735 G A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known silent c.1095 p.V365 0.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 110 0 0 30 19 38.7755 BMS1P20 0 genome.wustl.edu 37 22 22664216 22664216 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 22664216 22664216 G A SNP BMS1P20 ENST00000426066 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BMS1P20 HGNC ENSG00000236850 119 1 0.833333 62 8 11.4286 ZNF280B 0 genome.wustl.edu 37 22 22842147 22842147 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 22842147 22842147 T A SNP ZNF280B ENST00000360412 human ensembl 74_37 -1 known missense c.1577 p.D526V 0.066 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280B HGNC ENSG00000198477 191 0 0 127 16 11.1888 ZNF280A 0 genome.wustl.edu 37 22 22868482 22868482 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 22868482 22868482 T G SNP ZNF280A ENST00000302097 human ensembl 74_37 -1 known missense c.1473 p.K491N 0.947 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF280A HGNC ENSG00000169548 158 0 0 130 15 10.3448 MMP11 0 genome.wustl.edu 37 22 24122768 24122768 + Splice_Site SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 24122768 24122768 G T SNP MMP11 ENST00000215743 human ensembl 74_37 +1 known splice_site c.483-1 e4-1 1.000 - - - no_errors MMP11 HGNC ENSG00000099953 85 0 0 25 20 44.4444 SMARCB1 0 genome.wustl.edu 37 22 24176339 24176339 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 24176339 24176339 G A SNP SMARCB1 ENST00000263121 human ensembl 74_37 +1 known missense c.1130 p.R377H 1.000 pirsf_SWI_SNF_chromatin_remodel_cplx pfam_SNF5,pirsf_SWI_SNF_chromatin_remodel_cplx - no_errors SMARCB1 HGNC ENSG00000099956 20 0 0 8 5 38.4615 SUSD2 0 genome.wustl.edu 37 22 24584295 24584295 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 24584295 24584295 C T SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.2444 p.T815M 0.101 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 90 0 0 31 21 40.3846 SPECC1L 0 genome.wustl.edu 37 22 24730508 24730508 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 24730508 24730508 A G SNP SPECC1L ENST00000314328 human ensembl 74_37 +1 known missense c.2527 p.T843A 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_bHLH_dom,smart_CH-domain,pfscan_CH-domain - no_errors SPECC1L HGNC ENSG00000100014 194 0 0 91 14 13.3333 CCDC157 0 genome.wustl.edu 37 22 30762085 30762085 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 30762085 30762085 C T SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known silent c.96 p.A32 0.135 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 170 0 0 48 23 32.3944 SEC14L2 0 genome.wustl.edu 37 22 30812384 30812384 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 30812384 30812384 C A SNP SEC14L2 ENST00000312932 human ensembl 74_37 +1 known missense c.1073 p.P358H 1.000 superfamily_GOLD,pfscan_GOLD 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 SEC14L2 HGNC ENSG00000100003 123 0 0 43 19 30.6452 PES1 0 genome.wustl.edu 37 22 30980667 30980667 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 30980667 30980667 C T SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.406 p.D136N 1.000 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 82 0 0 18 3 14.2857 SLC35E4 0 genome.wustl.edu 37 22 31032910 31032910 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 31032910 31032910 G A SNP SLC35E4 ENST00000343605 human ensembl 74_37 +1 known missense c.473 p.R158H 1.000 pfam_DMT,pfam_UAA pfam_Tpt_PEP_trans_dom,pfam_DMT,pfam_UAA - no_errors SLC35E4 HGNC ENSG00000100036 44 0 0 16 9 36 MYH9 0 genome.wustl.edu 37 22 36680233 36680233 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 36680233 36680233 C T SNP MYH9 ENST00000216181 human ensembl 74_37 -1 known missense c.5671 p.A1891T 1.000 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH9 HGNC ENSG00000100345 112 0 0 26 16 38.0952 RAC2 0 genome.wustl.edu 37 22 37637151 37637151 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 37637151 37637151 C T SNP RAC2 ENST00000401529 human ensembl 74_37 -1 putative missense c.163 p.V55M 0.000 smart_Small_GTPase_Rho pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Rho - no_errors RAC2 HGNC ENSG00000128340 37 0 0 8 7 46.6667 NPTXR 0 genome.wustl.edu 37 22 39224460 39224460 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 39224460 39224460 G A SNP NPTXR ENST00000333039 human ensembl 74_37 -1 known missense c.682 p.P228S 0.809 NULL pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTXR HGNC ENSG00000221890 40 0 0 7 4 36.3636 APOBEC3H 0 genome.wustl.edu 37 22 39498015 39498015 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 39498015 39498015 C G SNP APOBEC3H ENST00000442487 human ensembl 74_37 +1 known missense c.511 p.R171G 0.000 pfam_APOBEC_C pfam_APOBEC_N,pfam_APOBEC_C,pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors APOBEC3H HGNC ENSG00000100298 123 1 0.806452 31 10 24.3902 CACNA1I 0 genome.wustl.edu 37 22 40057993 40057993 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 40057993 40057993 C T SNP CACNA1I ENST00000336649 human ensembl 74_37 +1 known silent c.2943 p.Y981 0.758 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1I HGNC ENSG00000100346 20 0 0 4 2 33.3333 FAM83F 0 genome.wustl.edu 37 22 40417883 40417883 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 40417883 40417883 G A SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known missense c.1369 p.A457T 0.183 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 100 1 0.990099 44 14 24.1379 ACO2 0 genome.wustl.edu 37 22 41918966 41918966 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 41918966 41918966 G A SNP ACO2 ENST00000216254 human ensembl 74_37 +1 known missense c.1271 p.R424H 0.999 pfam_Acoase/IPM_deHydtase_lsu_aba,superfamily_Acoase/IPM_deHydtase_lsu_aba,tigrfam_Aconitase_mito-like 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_mito-like - no_errors ACO2 HGNC ENSG00000100412 185 0 0 51 31 37.8049 TCF20 0 genome.wustl.edu 37 22 42609415 42609415 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 42609415 42609415 C T SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known missense c.1897 p.A633T 0.014 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 125 0 0 66 35 34.6535 TCF20 0 genome.wustl.edu 37 22 42611137 42611137 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 42611137 42611137 G A SNP TCF20 ENST00000359486 human ensembl 74_37 -1 known nonsense c.175 p.R59* 0.998 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 49 0 0 23 14 37.8378 RRP7B 0 genome.wustl.edu 37 22 42972598 42972598 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 42972598 42972598 C T SNP RRP7B ENST00000357802 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP7B HGNC ENSG00000182841 24 0 0 4 4 50 SMC1B 0 genome.wustl.edu 37 22 45779402 45779402 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 45779402 45779402 T G SNP SMC1B ENST00000357450 human ensembl 74_37 -1 known missense c.2003 p.E668A 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,superfamily_t-SNARE,smart_SMC_hinge - no_errors SMC1B HGNC ENSG00000077935 98 0 0 76 15 16.4835 CELSR1 0 genome.wustl.edu 37 22 46931661 46931661 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 46931661 46931661 G A SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.1407 p.P469 0.543 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_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 108 0 0 25 13 34.2105 TUBGCP6 0 genome.wustl.edu 37 22 50660293 50660293 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 50660293 50660293 G A SNP TUBGCP6 ENST00000248846 human ensembl 74_37 -1 known missense c.2495 p.P832L 0.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP6 HGNC ENSG00000128159 106 0 0 18 11 37.931 MAPK8IP2 0 genome.wustl.edu 37 22 51043425 51043425 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 51043425 51043425 C A SNP MAPK8IP2 ENST00000329492 human ensembl 74_37 +1 known missense c.1695 p.D565E 1.000 superfamily_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 159 0 0 35 11 23.913 DZIP3 0 genome.wustl.edu 37 3 108409687 108409687 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 108409687 108409687 C T SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known silent c.3570 p.H1190 0.976 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 131 1 0.757576 56 29 34.1176 DPPA2 0 genome.wustl.edu 37 3 109027898 109027898 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 109027898 109027898 C A SNP DPPA2 ENST00000478945 human ensembl 74_37 -1 known missense c.371 p.R124M 0.001 pfscan_SAP_dom pfscan_SAP_dom - no_errors DPPA2 HGNC ENSG00000163530 245 0 0 85 50 37.037 ATG7 0 genome.wustl.edu 37 3 11383709 11383709 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 11383709 11383709 C A SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.1081 p.L361I 1.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 243 0 0 105 53 33.5443 MAATS1 0 genome.wustl.edu 37 3 119462963 119462963 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 119462963 119462963 C T SNP MAATS1 ENST00000273390 human ensembl 74_37 +1 known missense c.1822 p.R608W 0.968 NULL superfamily_S-AdoMet_deCO2ase_core - no_errors MAATS1 HGNC ENSG00000183833 162 0 0 48 27 36 PLXNA1 0 genome.wustl.edu 37 3 126724052 126724052 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 126724052 126724052 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.1863 p.S621 0.000 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 31 0 0 12 5 29.4118 PLXNA1 0 genome.wustl.edu 37 3 126733355 126733355 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 126733355 126733355 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known missense c.2639 p.T880M 0.995 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 PLXNA1 HGNC ENSG00000114554 82 0 0 14 17 54.8387 ABTB1 0 genome.wustl.edu 37 3 127399132 127399132 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 127399132 127399132 C T SNP ABTB1 ENST00000232744 human ensembl 74_37 +1 known silent c.1251 p.F417 0.154 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,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 ABTB1 HGNC ENSG00000114626 27 0 0 23 8 25.8065 MBD4 0 genome.wustl.edu 37 3 129156137 129156137 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 129156137 129156137 T G SNP MBD4 ENST00000249910 human ensembl 74_37 -1 known missense c.350 p.K117T 0.996 pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd pfam_Methyl_CpG_DNA-bd,pfam_HhH-GPD_domain,superfamily_DNA-bd_dom,superfamily_DNA_glycosylase,smart_Methyl_CpG_DNA-bd,pirsf_Me_CpG-bd_MBD4,pfscan_Methyl_CpG_DNA-bd - no_errors MBD4 HGNC ENSG00000129071 71 0 0 31 29 48.3333 NEK11 0 genome.wustl.edu 37 3 130947466 130947466 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 130947466 130947466 G A SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known silent c.1494 p.A498 0.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK11 HGNC ENSG00000114670 130 1 0.763359 67 25 27.1739 DNAJC13 0 genome.wustl.edu 37 3 132193825 132193825 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 132193825 132193825 C T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known nonsense c.2341 p.R781* 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 178 0 0 59 21 26.25 DNAJC13 0 genome.wustl.edu 37 3 132211259 132211259 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 132211259 132211259 C T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.3625 p.R1209C 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 361 0 0 197 105 34.7682 AMOTL2 0 genome.wustl.edu 37 3 134090119 134090119 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 134090119 134090119 C A SNP AMOTL2 ENST00000249883 human ensembl 74_37 -1 known missense c.157 p.A53S 0.915 NULL pfam_Angiomotin_C,prints_Angiomotin - no_errors AMOTL2 HGNC ENSG00000114019 72 0 0 18 10 35.7143 HDAC11 0 genome.wustl.edu 37 3 13544421 13544421 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 13544421 13544421 G A SNP HDAC11 ENST00000295757 human ensembl 74_37 +1 known missense c.590 p.R197H 0.998 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,prints_His_deacetylse - no_errors HDAC11 HGNC ENSG00000163517 434 0 0 139 68 32.8502 PPP2R3A 0 genome.wustl.edu 37 3 135721303 135721303 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 135721303 135721303 C A SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known silent c.963 p.P321 0.873 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 153 0 0 60 43 41.7476 FBLN2 0 genome.wustl.edu 37 3 13670507 13670507 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 13670507 13670507 C T SNP FBLN2 ENST00000404922 human ensembl 74_37 +1 known missense c.2672 p.A891V 0.051 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,superfamily_Anaphylatoxin_comp_syst,smart_EG-like_dom,smart_Anaphylatoxin/fibulin,smart_EGF-like_Ca-bd_dom,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN2 HGNC ENSG00000163520 57 0 0 10 6 37.5 COPB2 0 genome.wustl.edu 37 3 139077962 139077962 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 139077962 139077962 G T SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.2362 p.L788I 1.000 pirsf_COPB2 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 133 0 0 76 50 39.6825 COPB2 0 genome.wustl.edu 37 3 139090584 139090584 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 139090584 139090584 A G SNP COPB2 ENST00000333188 human ensembl 74_37 -1 known missense c.1186 p.W396R 1.000 pirsf_COPB2,pfam_Coatomer_WD-assoc_reg,superfamily_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 129 0 0 47 25 34.7222 CNTN6 0 genome.wustl.edu 37 3 1394070 1394070 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 1394070 1394070 C A SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known nonsense c.1427 p.S476* 0.005 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_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 82 0 0 37 20 35.0877 CHCHD4 0 genome.wustl.edu 37 3 14154633 14154633 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 14154633 14154633 G A SNP CHCHD4 ENST00000295767 human ensembl 74_37 -1 known silent c.222 p.S74 0.897 NULL pfam_CHCH - no_errors CHCHD4 HGNC ENSG00000163528 136 1 0.729927 55 19 25.6757 CNTN6 0 genome.wustl.edu 37 3 1445015 1445015 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 1445015 1445015 A G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known silent c.3000 p.R1000 1.000 NULL 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 62 0 0 17 15 46.875 GRIP2 0 genome.wustl.edu 37 3 14555174 14555174 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 14555174 14555174 C T SNP GRIP2 ENST00000273083 human ensembl 74_37 -1 known rna NULL NULL 0.955 - - - no_errors GRIP2 HGNC ENSG00000144596 33 0 0 9 3 25 C3orf20 0 genome.wustl.edu 37 3 14724408 14724408 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 14724408 14724408 C T SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known missense c.188 p.P63L 0.004 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 232 0 0 92 34 26.9841 SUCNR1 0 genome.wustl.edu 37 3 151599161 151599161 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 151599161 151599161 A G SNP SUCNR1 ENST00000362032 human ensembl 74_37 +1 known missense c.830 p.Y277C 0.997 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors SUCNR1 HGNC ENSG00000198829 207 0 0 120 35 22.5806 BTD 0 genome.wustl.edu 37 3 15686554 15686554 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 15686554 15686554 G A SNP BTD ENST00000303498 human ensembl 74_37 +1 known silent c.1191 p.E397 0.997 pirsf_Biotinidase_euk pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Biotinidase_euk,pfscan_C-N_Hydrolase - no_errors BTD HGNC ENSG00000169814 280 0 0 117 44 27.3292 LRRC31 0 genome.wustl.edu 37 3 169572614 169572614 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 169572614 169572614 G A SNP LRRC31 ENST00000316428 human ensembl 74_37 -1 known silent c.978 p.D326 0.402 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC31 HGNC ENSG00000114248 155 0 0 65 37 36.2745 NLGN1 0 genome.wustl.edu 37 3 173999004 173999004 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 173999004 173999004 C T SNP NLGN1 ENST00000401917 human ensembl 74_37 +1 known missense c.2503 p.H835Y 1.000 NULL pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN1 HGNC ENSG00000169760 90 0 0 37 18 32.7273 RTP2 0 genome.wustl.edu 37 3 187416627 187416627 + Missense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 187416627 187416627 T A SNP RTP2 ENST00000358241 human ensembl 74_37 -1 known missense c.337 p.N113Y 1.000 NULL NULL - no_errors RTP2 HGNC ENSG00000198471 41 0 0 16 9 36 UTS2B 0 genome.wustl.edu 37 3 191047402 191047402 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 191047402 191047402 G A SNP UTS2B ENST00000490825 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors UTS2B HGNC ENSG00000188958 17 0 0 6 2 25 DLG1 0 genome.wustl.edu 37 3 196817823 196817823 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 196817823 196817823 C A SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known missense c.1720 p.G574C 0.997 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 150 0 0 78 18 18.75 KIAA0226 0 genome.wustl.edu 37 3 197408185 197408185 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 197408185 197408185 A C SNP KIAA0226 ENST00000296343 human ensembl 74_37 -1 known missense c.2245 p.C749G 1.000 NULL pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 199 0 0 70 41 36.9369 THRB 0 genome.wustl.edu 37 3 24231679 24231679 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 24231679 24231679 G A SNP THRB ENST00000356447 human ensembl 74_37 -1 known missense c.169 p.H57Y 0.864 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_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRB HGNC ENSG00000151090 134 0 0 110 9 7.56303 NEK10 0 genome.wustl.edu 37 3 27216220 27216220 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 27216220 27216220 G T SNP NEK10 ENST00000383771 human ensembl 74_37 -1 known silent c.546 p.A182 0.013 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors NEK10 HGNC ENSG00000163491 246 0 0 128 15 10.4895 FBXL2 0 genome.wustl.edu 37 3 33416811 33416811 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 33416811 33416811 G A SNP FBXL2 ENST00000484457 human ensembl 74_37 +1 known missense c.689 p.C230Y 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL2 HGNC ENSG00000153558 174 0 0 61 25 29.0698 CLASP2 0 genome.wustl.edu 37 3 33633950 33633950 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 33633950 33633950 T C SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known missense c.2005 p.M669V 0.968 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 60 0 0 25 12 32.4324 PLCD1 0 genome.wustl.edu 37 3 38049968 38049968 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 38049968 38049968 C T SNP PLCD1 ENST00000463876 human ensembl 74_37 -1 known missense c.1946 p.R649Q 0.000 superfamily_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_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 PLCD1 HGNC ENSG00000187091 103 0 0 27 18 40 SLC22A13 0 genome.wustl.edu 37 3 38318562 38318562 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 38318562 38318562 G A SNP SLC22A13 ENST00000311856 human ensembl 74_37 +1 known silent c.1506 p.T502 0.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A13 HGNC ENSG00000172940 19 0 0 2 4 66.6667 ACVR2B 0 genome.wustl.edu 37 3 38518857 38518857 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 38518857 38518857 C T SNP ACVR2B ENST00000352511 human ensembl 74_37 +1 known silent c.132 p.S44 1.000 pfam_Activin_rcpt 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 ACVR2B HGNC ENSG00000114739 146 1 0.680272 37 12 24.4898 SCN10A 0 genome.wustl.edu 37 3 38755487 38755487 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 38755487 38755487 G A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.3766 p.R1256W 0.982 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 235 0 0 85 8 8.60215 LRRN1 0 genome.wustl.edu 37 3 3887633 3887633 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 3887633 3887633 C T SNP LRRN1 ENST00000319331 human ensembl 74_37 +1 known silent c.1308 p.N436 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_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_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN1 HGNC ENSG00000175928 157 0 0 71 37 34.2593 ENTPD3 0 genome.wustl.edu 37 3 40442404 40442404 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 40442404 40442404 C T SNP ENTPD3 ENST00000301825 human ensembl 74_37 +1 known missense c.188 p.A63V 0.999 pfam_GDA1_CD39_NTPase pfam_GDA1_CD39_NTPase - no_errors ENTPD3 HGNC ENSG00000168032 324 0 0 105 47 30.9211 CTNNB1 0 genome.wustl.edu 37 3 41278119 41278119 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 41278119 41278119 C A SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.1995 p.D665E 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 235 1 0.423729 123 24 16.3265 ZNF445 0 genome.wustl.edu 37 3 44497024 44497024 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 44497024 44497024 C T SNP ZNF445 ENST00000396077 human ensembl 74_37 -1 known nonsense c.18 p.W6* 0.612 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF445 HGNC ENSG00000185219 77 0 0 23 17 42.5 KIF15 0 genome.wustl.edu 37 3 44893719 44893719 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 44893719 44893719 A C SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known missense c.3992 p.K1331T 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 KIF15 HGNC ENSG00000163808 75 0 0 36 19 34.5455 CDCP1 0 genome.wustl.edu 37 3 45137008 45137008 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 45137008 45137008 G A SNP CDCP1 ENST00000296129 human ensembl 74_37 -1 known silent c.1077 p.I359 0.294 NULL superfamily_CUB_dom - no_errors CDCP1 HGNC ENSG00000163814 114 0 0 23 28 54.902 COL7A1 0 genome.wustl.edu 37 3 48608092 48608092 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 48608092 48608092 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.7324 p.P2442S 0.984 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 24 0 0 10 2 16.6667 LAMB2 0 genome.wustl.edu 37 3 49161216 49161216 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 49161216 49161216 G A SNP LAMB2 ENST00000305544 human ensembl 74_37 -1 known missense c.3742 p.R1248C 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 119 0 0 35 23 39.6552 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 287 0 0 65 49 42.9825 UBA7 0 genome.wustl.edu 37 3 49847737 49847737 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 49847737 49847737 C T SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.1592 p.R531H 0.000 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 173 0 0 62 23 27.0588 UBA7 0 genome.wustl.edu 37 3 49850585 49850585 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 49850585 49850585 G A SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.377 p.A126V 0.020 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 67 0 0 13 16 55.1724 GNAT1 0 genome.wustl.edu 37 3 50231007 50231007 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 50231007 50231007 G A SNP GNAT1 ENST00000232461 human ensembl 74_37 +1 known silent c.360 p.S120 0.359 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT1 HGNC ENSG00000114349 133 0 0 22 10 31.25 LSMEM2 0 genome.wustl.edu 37 3 50324510 50324510 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 50324510 50324510 T C SNP LSMEM2 ENST00000316436 human ensembl 74_37 +1 known silent c.372 p.S124 0.926 NULL NULL - no_errors LSMEM2 HGNC ENSG00000179564 100 0 0 25 12 32.4324 HYAL1 0 genome.wustl.edu 37 3 50340261 50340261 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 50340261 50340261 A G SNP HYAL1 ENST00000266031 human ensembl 74_37 -1 known missense c.127 p.C43R 1.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL1 HGNC ENSG00000114378 135 0 0 27 27 50 TEX264 0 genome.wustl.edu 37 3 51718329 51718329 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 51718329 51718329 C T SNP TEX264 ENST00000463857 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TEX264 HGNC ENSG00000164081 16 0 0 4 4 50 NEK4 0 genome.wustl.edu 37 3 52786314 52786314 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 52786314 52786314 G T SNP NEK4 ENST00000233027 human ensembl 74_37 -1 known silent c.1002 p.A334 0.000 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK4 HGNC ENSG00000114904 234 0 0 169 23 11.9792 ARHGEF3 0 genome.wustl.edu 37 3 56789110 56789110 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 56789110 56789110 C T SNP ARHGEF3 ENST00000338458 human ensembl 74_37 -1 known missense c.370 p.A124T 0.002 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF3 HGNC ENSG00000163947 357 0 0 126 33 20.7547 FLNB 0 genome.wustl.edu 37 3 58141774 58141774 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 58141774 58141774 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.6860 p.A2287V 1.000 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 FLNB HGNC ENSG00000136068 108 0 0 31 16 34.0426 GPR27 0 genome.wustl.edu 37 3 71803351 71803351 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 71803351 71803351 C A SNP GPR27 ENST00000304411 human ensembl 74_37 +1 known missense c.151 p.R51S 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR27 HGNC ENSG00000170837 63 0 0 11 6 35.2941 FAM86DP 0 genome.wustl.edu 37 3 75472209 75472209 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 75472209 75472209 C T SNP FAM86DP ENST00000459803 human ensembl 74_37 -1 known rna NULL NULL 0.013 - - - no_errors FAM86DP HGNC ENSG00000244026 104 0 0 37 3 7.5 CRYBG3 0 genome.wustl.edu 37 3 97611821 97611821 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 97611821 97611821 C T SNP CRYBG3 ENST00000182096 human ensembl 74_37 +1 known missense c.1714 p.R572C 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBG3 HGNC ENSG00000080200 134 0 0 52 37 41.573 FGFRL1 0 genome.wustl.edu 37 4 1016196 1016196 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 1016196 1016196 C T SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known silent c.285 p.G95 0.017 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,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 49 0 0 15 3 16.6667 ADAD1 0 genome.wustl.edu 37 4 123302332 123302332 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 123302332 123302332 A G SNP ADAD1 ENST00000296513 human ensembl 74_37 +1 known missense c.358 p.T120A 1.000 pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADAD1 HGNC ENSG00000164113 158 0 0 60 16 21.0526 HHIP 0 genome.wustl.edu 37 4 145629414 145629414 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 145629414 145629414 A G SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1252 p.T418A 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 104 0 0 41 20 32.7869 CPEB2 0 genome.wustl.edu 37 4 15067820 15067820 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 15067820 15067820 A G SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2921 p.E974G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 195 0 0 114 18 13.6364 DCHS2 0 genome.wustl.edu 37 4 155243618 155243618 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 155243618 155243618 C A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known missense c.2676 p.K892N 1.000 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 49 0 0 30 12 28.5714 FNIP2 0 genome.wustl.edu 37 4 159756589 159756589 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 159756589 159756589 G T SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known nonsense c.757 p.G253* 1.000 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 395 0 0 122 52 29.8851 MSMO1 0 genome.wustl.edu 37 4 166254715 166254715 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 166254715 166254715 T C SNP MSMO1 ENST00000261507 human ensembl 74_37 +1 known missense c.193 p.F65L 0.953 NULL pfam_Fatty_acid_hydroxylase - no_errors MSMO1 HGNC ENSG00000052802 62 0 0 38 21 35.5932 TENM3 0 genome.wustl.edu 37 4 183714323 183714323 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 183714323 183714323 C A SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.6498 p.N2166K 1.000 superfamily_Cyt_c-like_dom 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 278 1 0.358423 89 46 34.0741 WHSC1 0 genome.wustl.edu 37 4 1980430 1980430 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 1980430 1980430 C A SNP WHSC1 ENST00000382891 human ensembl 74_37 +1 known missense c.3892 p.L1298I 0.946 NULL pfam_PWWP_dom,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_box_dom,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_PWWP_dom,smart_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_box_dom - no_errors WHSC1 HGNC ENSG00000109685 97 0 0 37 18 32.7273 GRK4 0 genome.wustl.edu 37 4 3042365 3042365 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 3042365 3042365 G A SNP GRK4 ENST00000505271 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors GRK4 HGNC ENSG00000125388 18 0 0 8 8 50 ZNF141 0 genome.wustl.edu 37 4 331751 331751 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 331751 331751 C T SNP ZNF141 ENST00000366506 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF141 HGNC ENSG00000131127 171 0 0 36 22 37.931 RFC1 0 genome.wustl.edu 37 4 39308307 39308307 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 39308307 39308307 A T SNP RFC1 ENST00000381897 human ensembl 74_37 -1 known missense c.1903 p.F635I 0.994 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 56 0 0 21 15 41.6667 UCHL1 0 genome.wustl.edu 37 4 41258982 41258982 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 41258982 41258982 C T SNP UCHL1 ENST00000504818 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UCHL1 HGNC ENSG00000154277 126 0 0 33 19 36.5385 SHISA3 0 genome.wustl.edu 37 4 42403209 42403209 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 42403209 42403209 C A SNP SHISA3 ENST00000319234 human ensembl 74_37 +1 known missense c.458 p.T153N 0.641 NULL NULL - no_errors SHISA3 HGNC ENSG00000178343 438 0 0 128 58 31.1828 GABRB1 0 genome.wustl.edu 37 4 47427857 47427857 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 47427857 47427857 G A SNP GABRB1 ENST00000295454 human ensembl 74_37 +1 known missense c.1247 p.R416H 0.999 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB1 HGNC ENSG00000163288 110 0 0 44 31 41.3333 TXK 0 genome.wustl.edu 37 4 48097180 48097180 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 48097180 48097180 G A SNP TXK ENST00000264316 human ensembl 74_37 -1 known silent c.561 p.S187 0.947 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 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 96 0 0 47 18 27.6923 ZAR1 0 genome.wustl.edu 37 4 48492719 48492719 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 48492719 48492719 G A SNP ZAR1 ENST00000327939 human ensembl 74_37 +1 known silent c.411 p.P137 0.002 NULL superfamily_Znf_FYVE_PHD - no_errors ZAR1 HGNC ENSG00000182223 8 0 0 1 3 75 CLOCK 0 genome.wustl.edu 37 4 56345050 56345050 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 56345050 56345050 C T SNP CLOCK ENST00000309964 human ensembl 74_37 -1 known missense c.188 p.G63D 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom,prints_Nuc_translocat pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_bHLH_dom,prints_Nuc_translocat - no_errors CLOCK HGNC ENSG00000134852 26 0 0 30 22 42.3077 PPP2R2C 0 genome.wustl.edu 37 4 6331024 6331024 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 6331024 6331024 G A SNP PPP2R2C ENST00000335585 human ensembl 74_37 -1 known silent c.1017 p.F339 0.996 superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55 - no_errors PPP2R2C HGNC ENSG00000074211 85 0 0 34 16 32 UGT2B10 0 genome.wustl.edu 37 4 69696564 69696564 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 69696564 69696564 T C SNP UGT2B10 ENST00000265403 human ensembl 74_37 +1 known silent c.1554 p.F518 0.002 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B10 HGNC ENSG00000109181 170 0 0 83 27 24.5455 NPFFR2 0 genome.wustl.edu 37 4 72897770 72897770 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 72897770 72897770 G T SNP NPFFR2 ENST00000308744 human ensembl 74_37 +1 known missense c.152 p.S51I 0.009 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPFF_rcpt_2,prints_NPFF_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors NPFFR2 HGNC ENSG00000056291 86 0 0 9 17 65.3846 C4orf26 0 genome.wustl.edu 37 4 76481344 76481344 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 76481344 76481344 G C SNP C4orf26 ENST00000311623 human ensembl 74_37 +1 known missense c.52 p.V18L 0.001 NULL NULL - no_errors C4orf26 HGNC ENSG00000174792 87 0 0 32 19 37.2549 SHROOM3 0 genome.wustl.edu 37 4 77663059 77663059 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 77663059 77663059 G A SNP SHROOM3 ENST00000296043 human ensembl 74_37 +1 known missense c.3733 p.A1245T 0.800 NULL pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM3 HGNC ENSG00000138771 36 0 0 13 7 35 WDFY3 0 genome.wustl.edu 37 4 85707176 85707176 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 85707176 85707176 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.4018 p.R1340W 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 157 1 0.632911 41 29 41.4286 KLHL8 0 genome.wustl.edu 37 4 88091723 88091723 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 88091723 88091723 A G SNP KLHL8 ENST00000273963 human ensembl 74_37 -1 known missense c.1253 p.I418T 1.000 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin 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 121 0 0 61 37 37.7551 ZRSR1 0 genome.wustl.edu 37 5 112227939 112227939 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 112227939 112227939 T C SNP ZRSR1 ENST00000391338 human ensembl 74_37 +1 known silent c.603 p.S201 0.990 prints_U2_small pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 195 0 0 73 4 5.19481 DMXL1 0 genome.wustl.edu 37 5 118507479 118507479 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 118507479 118507479 T C SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known missense c.6496 p.S2166P 0.001 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 228 0 0 97 14 12.6126 ZNF474 0 genome.wustl.edu 37 5 121488779 121488779 + Nonstop_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 121488779 121488779 A G SNP ZNF474 ENST00000296600 human ensembl 74_37 +1 known nonstop c.1094 p.*365W 0.000 NULL pfscan_Znf_C2H2 - no_errors ZNF474 HGNC ENSG00000164185 109 0 0 18 19 51.3514 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 237 0 0 49 36 42.3529 GFRA3 0 genome.wustl.edu 37 5 137593489 137593489 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 137593489 137593489 G A SNP GFRA3 ENST00000274721 human ensembl 74_37 -1 known silent c.624 p.A208 0.000 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt_A3 pfam_GDNF/GAS1,smart_GDNF/GAS1,prints_GDNF_rcpt,prints_GDNF_rcpt_A3 - no_errors GFRA3 HGNC ENSG00000146013 87 0 0 20 11 35.4839 APBB3 0 genome.wustl.edu 37 5 139938321 139938321 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 139938321 139938321 C A SNP APBB3 ENST00000356738 human ensembl 74_37 -1 known missense c.1325 p.R442L 1.000 NULL pfam_PTB/PI_dom,pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,pfscan_WW_dom - no_errors APBB3 HGNC ENSG00000113108 113 0 0 29 12 29.2683 PCDHA2 0 genome.wustl.edu 37 5 140176039 140176039 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140176039 140176039 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.1490 p.R497Q 0.963 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 PCDHA2 HGNC ENSG00000204969 206 0 0 58 37 38.9474 PCDHA3 0 genome.wustl.edu 37 5 140182650 140182650 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140182650 140182650 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.1868 p.R623H 0.702 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 PCDHA3 HGNC ENSG00000255408 156 0 0 49 26 34.6667 PCDHA6 0 genome.wustl.edu 37 5 140208784 140208784 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140208784 140208784 G A SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1108 p.A370T 0.986 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 246 0 0 125 64 33.8624 PCDHA7 0 genome.wustl.edu 37 5 140215475 140215475 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140215475 140215475 G A SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known missense c.1507 p.A503T 0.027 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 PCDHA7 HGNC ENSG00000204963 235 0 0 83 37 30.8333 PCDHA12 0 genome.wustl.edu 37 5 140256960 140256960 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140256960 140256960 C T SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.1903 p.R635C 0.983 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 168 0 0 48 28 36.8421 PCDHB2 0 genome.wustl.edu 37 5 140476279 140476279 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140476279 140476279 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.1905 p.R635 0.991 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 190 0 0 70 45 39.1304 ENSG00000255622 0 genome.wustl.edu 37 5 140536869 140536869 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140536869 140536869 G A SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1293 p.R431 0.843 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 PCDHB17 Uniprot_gn ENSG00000255622 229 0 0 91 20 18.018 ENSG00000255622 0 genome.wustl.edu 37 5 140536956 140536956 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140536956 140536956 C T SNP ENSG00000255622 ENST00000539533 human ensembl 74_37 +1 known silent c.1380 p.F460 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB17 Uniprot_gn ENSG00000255622 384 0 0 111 69 38.3333 PCDHB7 0 genome.wustl.edu 37 5 140553151 140553151 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140553151 140553151 G A SNP PCDHB7 ENST00000231137 human ensembl 74_37 +1 known silent c.735 p.S245 0.000 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB7 HGNC ENSG00000113212 139 0 0 50 34 40.4762 PCDHB16 0 genome.wustl.edu 37 5 140562820 140562820 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140562820 140562820 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.686 p.R229H 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB16 HGNC ENSG00000196963 161 0 0 46 25 35.2113 PCDHB16 0 genome.wustl.edu 37 5 140564112 140564112 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140564112 140564112 G A SNP PCDHB16 ENST00000361016 human ensembl 74_37 +1 known missense c.1978 p.V660M 0.109 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 PCDHB16 HGNC ENSG00000196963 140 0 0 52 28 35 PCDHB13 0 genome.wustl.edu 37 5 140595831 140595831 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140595831 140595831 G A SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known silent c.2136 p.R712 0.337 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 354 0 0 113 55 32.7381 PCDHB15 0 genome.wustl.edu 37 5 140627138 140627138 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140627138 140627138 C T SNP PCDHB15 ENST00000231173 human ensembl 74_37 +1 known silent c.1992 p.D664 0.051 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB15 HGNC ENSG00000113248 203 0 0 74 39 34.5133 PCDHGB1 0 genome.wustl.edu 37 5 140730146 140730146 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140730146 140730146 G A SNP PCDHGB1 ENST00000523390 human ensembl 74_37 +1 known missense c.319 p.A107T 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB1 HGNC ENSG00000254221 106 0 0 43 32 42.6667 PCDHGA4 0 genome.wustl.edu 37 5 140735645 140735645 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140735645 140735645 A C SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.878 p.Q293P 0.526 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 PCDHGA4 HGNC ENSG00000262576 77 0 0 21 16 43.2432 PCDHGA4 0 genome.wustl.edu 37 5 140736919 140736919 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140736919 140736919 C T SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known missense c.2152 p.R718C 0.998 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 100 0 0 40 22 35.4839 PCDHGB2 0 genome.wustl.edu 37 5 140739977 140739977 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140739977 140739977 G A SNP PCDHGB2 ENST00000522605 human ensembl 74_37 +1 known missense c.275 p.R92Q 1.000 pfam_Cadherin_N,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 PCDHGB2 HGNC ENSG00000253910 340 0 0 98 47 32.4138 PCDHGA5 0 genome.wustl.edu 37 5 140745880 140745880 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140745880 140745880 C T SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known silent c.1983 p.T661 0.001 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 PCDHGA5 HGNC ENSG00000253485 511 0 0 150 86 36.4407 PCDHGA5 0 genome.wustl.edu 37 5 140746290 140746290 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140746290 140746290 A C SNP PCDHGA5 ENST00000518069 human ensembl 74_37 +1 known missense c.2393 p.D798A 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 316 0 0 127 64 33.5079 PCDHGA6 0 genome.wustl.edu 37 5 140754085 140754085 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140754085 140754085 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.435 p.N145 0.393 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 117 0 0 45 21 31.8182 PCDHGA6 0 genome.wustl.edu 37 5 140755360 140755360 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140755360 140755360 C T SNP PCDHGA6 ENST00000517434 human ensembl 74_37 +1 known silent c.1710 p.D570 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA6 HGNC ENSG00000253731 519 0 0 154 67 30.3167 PCDHGA12 0 genome.wustl.edu 37 5 140811976 140811976 + Silent SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140811976 140811976 G C SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known silent c.1650 p.L550 0.013 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 PCDHGA12 HGNC ENSG00000253159 450 0 0 142 60 29.703 PCDHGA12 0 genome.wustl.edu 37 5 140812146 140812146 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140812146 140812146 G A SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1820 p.R607H 0.895 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 188 0 0 86 47 35.3383 PCDHGC3 0 genome.wustl.edu 37 5 140856225 140856225 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 140856225 140856225 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.542 p.A181V 0.998 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 PCDHGC3 HGNC ENSG00000240184 125 0 0 28 24 46.1538 SCGB3A2 0 genome.wustl.edu 37 5 147261725 147261725 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 147261725 147261725 G A SNP SCGB3A2 ENST00000507160 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SCGB3A2 HGNC ENSG00000164265 17 0 0 6 7 53.8462 ABLIM3 0 genome.wustl.edu 37 5 148619396 148619396 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 148619396 148619396 C T SNP ABLIM3 ENST00000309868 human ensembl 74_37 +1 known silent c.1149 p.S383 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 ABLIM3 HGNC ENSG00000173210 227 0 0 72 34 32.0755 G3BP1 0 genome.wustl.edu 37 5 151183470 151183470 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 151183470 151183470 C T SNP G3BP1 ENST00000356245 human ensembl 74_37 +1 known missense c.1219 p.R407C 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_NTF2,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,pfscan_Nuclear_transport_factor_2_euk - no_errors G3BP1 HGNC ENSG00000145907 119 0 0 40 20 33.3333 MRPL22 0 genome.wustl.edu 37 5 154346305 154346305 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 154346305 154346305 C T SNP MRPL22 ENST00000523037 human ensembl 74_37 +1 known missense c.469 p.R157C 0.004 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 pfam_Ribosomal_L22,superfamily_Ribosomal_L22 - no_errors MRPL22 HGNC ENSG00000082515 199 0 0 73 31 29.8077 TENM2 0 genome.wustl.edu 37 5 167379678 167379678 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 167379678 167379678 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.798 p.S266 0.123 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 50 0 0 13 5 27.7778 SLIT3 0 genome.wustl.edu 37 5 168096798 168096798 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 168096798 168096798 G C SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.4326 p.H1442Q 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,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_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 48 0 0 23 9 28.125 N4BP3 0 genome.wustl.edu 37 5 177547405 177547405 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 177547405 177547405 C A SNP N4BP3 ENST00000274605 human ensembl 74_37 +1 known missense c.557 p.P186H 1.000 NULL NULL - no_errors N4BP3 HGNC ENSG00000145911 160 0 0 64 4 5.88235 ZNF354B 0 genome.wustl.edu 37 5 178310319 178310319 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 178310319 178310319 T C SNP ZNF354B ENST00000322434 human ensembl 74_37 +1 known missense c.866 p.L289S 0.689 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 ZNF354B HGNC ENSG00000178338 148 0 0 90 31 25.6198 GRM6 0 genome.wustl.edu 37 5 178410024 178410024 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 178410024 178410024 C T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.2323 p.V775M 1.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 134 0 0 47 30 38.961 TBC1D9B 0 genome.wustl.edu 37 5 179302056 179302056 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 179302056 179302056 C T SNP TBC1D9B ENST00000356834 human ensembl 74_37 -1 known missense c.2032 p.V678I 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,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_hand_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D9B HGNC ENSG00000197226 161 0 0 46 20 30.303 CDH6 0 genome.wustl.edu 37 5 31297469 31297469 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 31297469 31297469 C A SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known nonsense c.597 p.Y199* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 130 0 0 66 29 30.5263 UGT3A1 0 genome.wustl.edu 37 5 35991394 35991394 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 35991394 35991394 C T SNP UGT3A1 ENST00000513233 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors UGT3A1 HGNC ENSG00000145626 56 0 0 19 9 32.1429 ITGA1 0 genome.wustl.edu 37 5 52194127 52194127 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 52194127 52194127 A G SNP ITGA1 ENST00000282588 human ensembl 74_37 +1 known missense c.1223 p.Q408R 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA1 HGNC ENSG00000213949 59 0 0 22 11 33.3333 SNX18 0 genome.wustl.edu 37 5 53815059 53815059 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 53815059 53815059 G A SNP SNX18 ENST00000326277 human ensembl 74_37 +1 known missense c.1277 p.S426N 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 102 0 0 26 13 33.3333 SETD9 0 genome.wustl.edu 37 5 56209750 56209750 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 56209750 56209750 A G SNP SETD9 ENST00000285947 human ensembl 74_37 +1 known missense c.640 p.T214A 0.694 NULL NULL - no_errors SETD9 HGNC ENSG00000155542 81 0 0 30 15 33.3333 BTF3 0 genome.wustl.edu 37 5 72801128 72801128 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 72801128 72801128 C T SNP BTF3 ENST00000514505 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors BTF3 HGNC ENSG00000145741 29 0 0 23 7 23.3333 VCAN 0 genome.wustl.edu 37 5 82835591 82835591 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 82835591 82835591 G T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known nonsense c.6769 p.G2257* 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 91 0 0 54 28 34.1463 CCNH 0 genome.wustl.edu 37 5 86705170 86705170 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 86705170 86705170 C A SNP CCNH ENST00000256897 human ensembl 74_37 -1 known missense c.251 p.C84F 1.000 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_CyclinC,tigrfam_CyclinH/Ccl1 - no_errors CCNH HGNC ENSG00000134480 47 0 0 26 3 10.3448 POU5F2 0 genome.wustl.edu 37 5 93076993 93076993 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 93076993 93076993 G A SNP POU5F2 ENST00000510627 human ensembl 74_37 -1 known nonsense c.277 p.R93* 0.002 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 - no_errors POU5F2 HGNC ENSG00000248483 55 0 0 6 15 71.4286 BEND3 0 genome.wustl.edu 37 6 107389968 107389968 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 107389968 107389968 G A SNP BEND3 ENST00000369042 human ensembl 74_37 -1 known silent c.2427 p.C809 1.000 pfam_BEN_domain pfam_BEN_domain - no_errors BEND3 HGNC ENSG00000178409 157 0 0 52 30 36.5854 SOBP 0 genome.wustl.edu 37 6 107955723 107955723 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 107955723 107955723 G A SNP SOBP ENST00000317357 human ensembl 74_37 +1 known missense c.1675 p.G559R 0.997 NULL NULL - no_errors SOBP HGNC ENSG00000112320 61 0 0 25 11 30.5556 GPR6 0 genome.wustl.edu 37 6 110300781 110300781 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 110300781 110300781 G A SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known missense c.511 p.V171I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 271 0 0 105 11 9.48276 FRK 0 genome.wustl.edu 37 6 116288822 116288822 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 116288822 116288822 G A SNP FRK ENST00000606080 human ensembl 74_37 -1 known missense c.691 p.R231C 1.000 superfamily_Kinase-like_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 FRK HGNC ENSG00000111816 147 0 0 77 45 36.8852 PRELID1P1 0 genome.wustl.edu 37 6 126964909 126964909 + RNA SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 126964909 126964909 C T SNP PRELID1P1 ENST00000567272 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRELID1P1 HGNC ENSG00000217325 64 0 0 14 7 33.3333 SOGA3 0 genome.wustl.edu 37 6 127836907 127836907 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 127836907 127836907 C T SNP SOGA3 ENST00000368268 human ensembl 74_37 -1 known missense c.853 p.G285S 0.006 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 39 0 0 7 7 50 LAMA2 0 genome.wustl.edu 37 6 129835564 129835564 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 129835564 129835564 A G SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.9035 p.Y3012C 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 108 0 0 40 24 37.5 SLC2A12 0 genome.wustl.edu 37 6 134349555 134349555 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 134349555 134349555 C T SNP SLC2A12 ENST00000275230 human ensembl 74_37 -1 known missense c.1408 p.V470I 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Sugar/inositol_transpt - no_errors SLC2A12 HGNC ENSG00000146411 133 0 0 45 24 34.7826 SGK1 0 genome.wustl.edu 37 6 134583282 134583282 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 134583282 134583282 C T SNP SGK1 ENST00000367858 human ensembl 74_37 -1 known missense c.74 p.R25Q 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 279 0 0 98 44 30.9859 BCLAF1 0 genome.wustl.edu 37 6 136597275 136597275 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 136597275 136597275 T C SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.1388 p.E463G 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 171 0 0 134 27 16.7702 BCLAF1 0 genome.wustl.edu 37 6 136599781 136599781 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 136599781 136599781 A G SNP BCLAF1 ENST00000531224 human ensembl 74_37 -1 known missense c.238 p.Y80H 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 228 1 0.436681 122 33 21.2903 HECA 0 genome.wustl.edu 37 6 139487628 139487628 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 139487628 139487628 G A SNP HECA ENST00000367658 human ensembl 74_37 +1 known missense c.479 p.R160H 1.000 NULL superfamily_Glycoside_hydrolase_SF - no_errors HECA HGNC ENSG00000112406 213 0 0 69 34 33.0097 C6orf211 0 genome.wustl.edu 37 6 151790162 151790162 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 151790162 151790162 C T SNP C6orf211 ENST00000367294 human ensembl 74_37 +1 known nonsense c.1243 p.Q415* 0.767 pfam_DUF89,superfamily_DUF89 pfam_DUF89,superfamily_DUF89 - no_errors C6orf211 HGNC ENSG00000146476 81 0 0 30 13 30.2326 ESR1 0 genome.wustl.edu 37 6 152332821 152332821 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 152332821 152332821 T C SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.1127 p.V376A 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 99 0 0 64 39 37.8641 SYNE1 0 genome.wustl.edu 37 6 152477160 152477160 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 152477160 152477160 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.23863 p.H7955Y 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 146 0 0 62 6 8.82353 TULP4 0 genome.wustl.edu 37 6 158914725 158914725 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 158914725 158914725 G A SNP TULP4 ENST00000367097 human ensembl 74_37 +1 known silent c.1752 p.E584 1.000 superfamily_Tubby_C-like pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TULP4 HGNC ENSG00000130338 147 0 0 46 26 36.1111 TMEM181 0 genome.wustl.edu 37 6 159029369 159029369 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 159029369 159029369 G A SNP TMEM181 ENST00000367090 human ensembl 74_37 +1 known silent c.1089 p.P363 0.997 NULL NULL - no_errors TMEM181 HGNC ENSG00000146433 82 0 0 33 25 43.1034 SLC22A3 0 genome.wustl.edu 37 6 160829897 160829897 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 160829897 160829897 G A SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known nonsense c.801 p.W267* 1.000 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 SLC22A3 HGNC ENSG00000146477 122 0 0 53 25 32.0513 SLC22A3 0 genome.wustl.edu 37 6 160864677 160864677 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 160864677 160864677 G A SNP SLC22A3 ENST00000392145 human ensembl 74_37 +1 known silent c.1416 p.S472 0.246 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 SLC22A3 HGNC ENSG00000146477 52 0 0 27 16 37.2093 TTLL2 0 genome.wustl.edu 37 6 167752266 167752266 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 167752266 167752266 G A SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.179 p.R60H 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 41 0 0 19 3 13.6364 FRMD1 0 genome.wustl.edu 37 6 168457809 168457809 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 168457809 168457809 C T SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.1618 p.G540R 0.022 NULL pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 16 0 0 6 7 53.8462 KDM1B 0 genome.wustl.edu 37 6 18208403 18208403 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 18208403 18208403 C A SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.1835 p.T612N 0.164 pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 136 0 0 29 74 71.8447 ZNF184 0 genome.wustl.edu 37 6 27420689 27420689 + Nonsense_Mutation SNP T T A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 27420689 27420689 T A SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known nonsense c.649 p.K217* 0.530 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 ZNF184 HGNC ENSG00000096654 296 0 0 62 154 71.2963 OR12D2 0 genome.wustl.edu 37 6 29364789 29364789 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 29364789 29364789 C T SNP OR12D2 ENST00000383555 human ensembl 74_37 +1 known silent c.313 p.L105 0.069 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR12D2 HGNC ENSG00000168787 98 0 0 23 58 71.6049 VARS 0 genome.wustl.edu 37 6 31746992 31746992 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 31746992 31746992 C T SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.3478 p.A1160T 0.994 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 36 0 0 3 14 82.3529 COL11A2 0 genome.wustl.edu 37 6 33133371 33133371 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 33133371 33133371 G A SNP COL11A2 ENST00000341947 human ensembl 74_37 -1 known missense c.4705 p.R1569C 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A2 HGNC ENSG00000204248 220 0 0 107 14 11.5702 SLC22A23 0 genome.wustl.edu 37 6 3324124 3324124 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 3324124 3324124 C T SNP SLC22A23 ENST00000406686 human ensembl 74_37 -1 known nonsense c.1026 p.W342* 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A23 HGNC ENSG00000137266 46 0 0 9 22 70.9677 DAXX 0 genome.wustl.edu 37 6 33289268 33289268 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 33289268 33289268 G A SNP DAXX ENST00000266000 human ensembl 74_37 -1 known missense c.284 p.A95V 1.000 pfam_Daxx pfam_Daxx - no_errors DAXX HGNC ENSG00000204209 199 0 0 66 27 29.0323 ITPR3 0 genome.wustl.edu 37 6 33662760 33662760 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 33662760 33662760 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.7845 p.G2615 0.023 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 89 0 0 23 21 47.7273 PIM1 0 genome.wustl.edu 37 6 37139029 37139029 + Silent SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 37139029 37139029 C G SNP PIM1 ENST00000373509 human ensembl 74_37 +1 known silent c.369 p.P123 0.976 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 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 PIM1 HGNC ENSG00000137193 394 0 0 168 16 8.69565 LRFN2 0 genome.wustl.edu 37 6 40399690 40399690 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 40399690 40399690 C T SNP LRFN2 ENST00000338305 human ensembl 74_37 -1 known missense c.1163 p.R388H 0.930 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 88 0 0 33 12 26.6667 FOXP4 0 genome.wustl.edu 37 6 41533594 41533594 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 41533594 41533594 C T SNP FOXP4 ENST00000307972 human ensembl 74_37 +1 known silent c.96 p.G32 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP4 HGNC ENSG00000137166 298 0 0 71 39 35.4545 CUL9 0 genome.wustl.edu 37 6 43190359 43190359 + Nonsense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 43190359 43190359 G T SNP CUL9 ENST00000252050 human ensembl 74_37 +1 known nonsense c.7012 p.G2338* 0.947 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 99 0 0 24 15 38.4615 SLC35B2 0 genome.wustl.edu 37 6 44225174 44225174 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 44225174 44225174 G A SNP SLC35B2 ENST00000495706 human ensembl 74_37 -1 known rna NULL NULL 0.995 - - - no_errors SLC35B2 HGNC ENSG00000157593 10 0 0 2 2 50 BAI3 0 genome.wustl.edu 37 6 69759195 69759195 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 69759195 69759195 G A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2290 p.A764T 1.000 pfam_DUF3497 pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 45 0 0 32 20 38.4615 B3GAT2 0 genome.wustl.edu 37 6 71571627 71571627 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 71571627 71571627 C T SNP B3GAT2 ENST00000230053 human ensembl 74_37 -1 known missense c.791 p.R264H 1.000 pfam_Glyco_trans_43 pfam_Glyco_trans_43 - no_errors B3GAT2 HGNC ENSG00000112309 96 0 0 45 30 40 RIMS1 0 genome.wustl.edu 37 6 72892034 72892034 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 72892034 72892034 A G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.860 p.K287R 0.998 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 91 0 0 27 10 27.027 RIMS1 0 genome.wustl.edu 37 6 72892074 72892074 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 72892074 72892074 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known silent c.900 p.P300 0.623 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 90 0 0 21 13 38.2353 TPBG 0 genome.wustl.edu 37 6 83075087 83075087 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 83075087 83075087 G A SNP TPBG ENST00000369750 human ensembl 74_37 +1 known missense c.409 p.A137T 0.999 smart_Leu-rich_rpt_typical-subtyp 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 115 1 0.862069 64 10 13.5135 TBX18 0 genome.wustl.edu 37 6 85446535 85446535 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 85446535 85446535 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known silent c.1692 p.T564 0.007 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 127 0 0 51 35 40.6977 TBX18 0 genome.wustl.edu 37 6 85473619 85473619 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 85473619 85473619 C T SNP TBX18 ENST00000369663 human ensembl 74_37 -1 known missense c.281 p.R94H 0.997 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_T-box,pfscan_TF_T-box - no_errors TBX18 HGNC ENSG00000112837 11 0 0 1 5 83.3333 RRAGD 0 genome.wustl.edu 37 6 90097168 90097168 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 90097168 90097168 G A SNP RRAGD ENST00000369415 human ensembl 74_37 -1 known missense c.290 p.T97I 1.000 pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase - no_errors RRAGD HGNC ENSG00000025039 462 0 0 184 120 39.4737 MANEA 0 genome.wustl.edu 37 6 96034484 96034484 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 96034484 96034484 A G SNP MANEA ENST00000358812 human ensembl 74_37 +1 known missense c.169 p.K57E 0.117 NULL superfamily_Glycoside_hydrolase_SF - no_errors MANEA HGNC ENSG00000172469 104 0 0 92 5 5.15464 PNISR 0 genome.wustl.edu 37 6 99848984 99848984 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 99848984 99848984 C T SNP PNISR ENST00000369239 human ensembl 74_37 -1 known missense c.1850 p.R617H 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 120 0 0 89 14 13.5922 AGFG2 0 genome.wustl.edu 37 7 100161926 100161926 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 100161926 100161926 G T SNP AGFG2 ENST00000300176 human ensembl 74_37 +1 known missense c.1386 p.M462I 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 26 0 0 11 7 38.8889 EPHB4 0 genome.wustl.edu 37 7 100403157 100403157 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 100403157 100403157 C T SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.2644 p.A882T 0.999 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Kinase-like_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,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 274 0 0 72 41 36.2832 ACHE 0 genome.wustl.edu 37 7 100491560 100491560 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 100491560 100491560 A G SNP ACHE ENST00000302913 human ensembl 74_37 -1 known silent c.294 p.S98 0.002 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors ACHE HGNC ENSG00000087085 219 0 0 63 23 26.7442 FBXL13 0 genome.wustl.edu 37 7 102566738 102566738 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 102566738 102566738 C T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known silent c.861 p.T287 0.496 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 55 0 0 22 12 35.2941 LAMB4 0 genome.wustl.edu 37 7 107706348 107706348 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 107706348 107706348 A G SNP LAMB4 ENST00000205386 human ensembl 74_37 -1 known missense c.2695 p.Y899H 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB4 HGNC ENSG00000091128 153 0 0 57 39 40.625 MET 0 genome.wustl.edu 37 7 116435768 116435768 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 116435768 116435768 C T SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.3912 p.D1304 0.288 pirsf_Tyr_kinase_HGF/MSP_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_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 384 0 0 315 84 21.0526 MET 0 genome.wustl.edu 37 7 116436022 116436022 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 116436022 116436022 G A SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.4071 p.A1357 0.000 pirsf_Tyr_kinase_HGF/MSP_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 215 0 0 115 21 15.4412 MET 0 genome.wustl.edu 37 7 116436097 116436097 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 116436097 116436097 G A SNP MET ENST00000318493 human ensembl 74_37 +1 known silent c.4146 p.P1382 0.983 pirsf_Tyr_kinase_HGF/MSP_rcpt pirsf_Tyr_kinase_HGF/MSP_rcpt,pfam_Semap_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Kinase-like_dom,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Semap_dom,pfscan_Prot_kinase_dom - no_errors MET HGNC ENSG00000105976 277 0 0 175 29 14.2157 KCND2 0 genome.wustl.edu 37 7 119914694 119914694 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 119914694 119914694 C T SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known missense c.8 p.A3V 1.000 pfam_Shal-type pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 320 0 0 203 13 6.01852 ASB15 0 genome.wustl.edu 37 7 123267185 123267185 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 123267185 123267185 C T SNP ASB15 ENST00000275699 human ensembl 74_37 +1 known missense c.719 p.A240V 1.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB15 HGNC ENSG00000146809 154 1 0.645161 50 37 42.5287 UNCX 0 genome.wustl.edu 37 7 1275553 1275553 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 1275553 1275553 C T SNP UNCX ENST00000316333 human ensembl 74_37 +1 known missense c.536 p.P179L 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors UNCX HGNC ENSG00000164853 45 0 0 12 3 20 SND1 0 genome.wustl.edu 37 7 127721508 127721508 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 127721508 127721508 G A SNP SND1 ENST00000354725 human ensembl 74_37 +1 known missense c.2065 p.E689K 1.000 pfam_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN pfam_Staphylococal_nuclease_OB-fold,pfam_Tudor,superfamily_Staphylococal_nuclease_OB-fold,smart_Staphylococal_nuclease_OB-fold,smart_Tudor,pirsf_Silence_cplx_Nase-comp_TudorSN,pfscan_Tudor,pfscan_Staphylococal_nuclease_OB-fold - no_errors SND1 HGNC ENSG00000197157 75 0 0 30 6 16.6667 FAM71F1 0 genome.wustl.edu 37 7 128370003 128370003 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 128370003 128370003 C T SNP FAM71F1 ENST00000315184 human ensembl 74_37 +1 known missense c.901 p.R301C 0.084 NULL pfam_DUF3699 - no_errors FAM71F1 HGNC ENSG00000135248 205 0 0 70 44 38.5965 FLNC 0 genome.wustl.edu 37 7 128470903 128470903 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 128470903 128470903 T C SNP FLNC ENST00000325888 human ensembl 74_37 +1 known missense c.212 p.I71T 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_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 FLNC HGNC ENSG00000128591 73 0 0 15 9 37.5 PLXNA4 0 genome.wustl.edu 37 7 132192848 132192848 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 132192848 132192848 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.605 p.R202Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 235 0 0 58 41 41.4141 DGKI 0 genome.wustl.edu 37 7 137293790 137293790 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 137293790 137293790 A G SNP DGKI ENST00000288490 human ensembl 74_37 -1 known silent c.1089 p.P363 0.984 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors DGKI HGNC ENSG00000157680 74 0 0 31 19 38 TBXAS1 0 genome.wustl.edu 37 7 139719830 139719830 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 139719830 139719830 G A SNP TBXAS1 ENST00000414508 human ensembl 74_37 +1 known missense c.1373 p.R458H 0.479 prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors TBXAS1 HGNC ENSG00000059377 96 0 0 37 15 28.8462 MGAM 0 genome.wustl.edu 37 7 141747660 141747660 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 141747660 141747660 T C SNP MGAM ENST00000549489 human ensembl 74_37 +1 known silent c.2574 p.N858 1.000 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 41 0 0 21 12 36.3636 TRPV5 0 genome.wustl.edu 37 7 142622641 142622641 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 142622641 142622641 G A SNP TRPV5 ENST00000265310 human ensembl 74_37 -1 known nonsense c.1105 p.Q369* 0.015 tigrfam_TRP_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV5,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV5 HGNC ENSG00000127412 105 0 0 42 22 34.375 CUL1 0 genome.wustl.edu 37 7 148485743 148485743 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 148485743 148485743 T C SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.1574 p.L525S 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 CUL1 HGNC ENSG00000055130 191 0 0 84 37 30.5785 CUL1 0 genome.wustl.edu 37 7 148495753 148495753 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 148495753 148495753 G A SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.2120 p.R707H 1.000 pfam_Cullin_neddylation_domain,smart_Cullin_neddylation_domain 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 176 0 0 45 28 38.3562 ZNF282 0 genome.wustl.edu 37 7 148921307 148921307 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 148921307 148921307 C T SNP ZNF282 ENST00000262085 human ensembl 74_37 +1 known silent c.1584 p.G528 0.000 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 69 0 0 20 9 31.0345 INTS1 0 genome.wustl.edu 37 7 1518141 1518141 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 1518141 1518141 C T SNP INTS1 ENST00000389470 human ensembl 74_37 -1 known silent c.5088 p.V1696 0.990 NULL pfam_DUF3677,superfamily_ARM-type_fold - no_errors INTS1 HGNC ENSG00000164880 36 0 0 13 5 27.7778 RBM33 0 genome.wustl.edu 37 7 155493520 155493520 + Missense_Mutation SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 155493520 155493520 A T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.621 p.E207D 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 21 0 0 10 7 41.1765 MAD1L1 0 genome.wustl.edu 37 7 1997266 1997266 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 1997266 1997266 G C SNP MAD1L1 ENST00000265854 human ensembl 74_37 -1 known missense c.1594 p.Q532E 1.000 pfam_Mad1 pfam_Mad1 - no_errors MAD1L1 HGNC ENSG00000002822 189 0 0 47 21 30.8824 SP8 0 genome.wustl.edu 37 7 20825187 20825187 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 20825187 20825187 C T SNP SP8 ENST00000418710 human ensembl 74_37 -1 known silent c.249 p.S83 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Antifreeze_1 - no_errors SP8 HGNC ENSG00000164651 43 0 0 5 7 58.3333 HOXA4 0 genome.wustl.edu 37 7 27169037 27169037 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 27169037 27169037 C T SNP HOXA4 ENST00000360046 human ensembl 74_37 -1 known missense c.770 p.R257H 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXA4 HGNC ENSG00000197576 190 0 0 63 39 38.2353 EVX1 0 genome.wustl.edu 37 7 27285699 27285699 + Silent SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 27285699 27285699 C A SNP EVX1 ENST00000496902 human ensembl 74_37 +1 known silent c.879 p.A293 0.991 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors EVX1 HGNC ENSG00000106038 39 0 0 13 6 31.5789 EEPD1 0 genome.wustl.edu 37 7 36194777 36194777 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 36194777 36194777 C T SNP EEPD1 ENST00000242108 human ensembl 74_37 +1 known nonsense c.844 p.R282* 1.000 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase pfam_HhH_motif,pfam_Endo/exonuclease/phosphatase,pfam_GspK,superfamily_Endo/exonuclease/phosphatase,superfamily_RuvA_2-like,smart_Hlx-hairpin-Hlx_DNA-bd_motif,tigrfam_Competence_ComEA_HhH - no_errors EEPD1 HGNC ENSG00000122547 71 0 0 14 13 48.1481 AMPH 0 genome.wustl.edu 37 7 38502690 38502690 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 38502690 38502690 G A SNP AMPH ENST00000356264 human ensembl 74_37 -1 known missense c.773 p.A258V 0.999 prints_Amphiphysin_1 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 191 0 0 64 46 41.8182 SDK1 0 genome.wustl.edu 37 7 4002384 4002384 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 4002384 4002384 C T SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.1330 p.R444C 0.952 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 16 0 0 3 8 72.7273 TNS3 0 genome.wustl.edu 37 7 47463773 47463773 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 47463773 47463773 C A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.399 p.Q133H 1.000 smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 75 0 0 27 17 38.6364 UPP1 0 genome.wustl.edu 37 7 48147888 48147888 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 48147888 48147888 C T SNP UPP1 ENST00000331803 human ensembl 74_37 +1 known silent c.867 p.S289 0.000 pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk pfam_Nucleoside_phosphorylase_d,tigrfam_Uridine_phosphorylase_euk - no_errors UPP1 HGNC ENSG00000183696 190 0 0 37 30 44.7761 LANCL2 0 genome.wustl.edu 37 7 55479744 55479744 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 55479744 55479744 G A SNP LANCL2 ENST00000254770 human ensembl 74_37 +1 known missense c.970 p.A324T 0.991 pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LANC-like pfam_LANC-like,superfamily_6-hairpin_glycosidase-like,prints_LanC-like_prot_euk,prints_LANC-like - no_errors LANCL2 HGNC ENSG00000132434 195 0 0 64 44 40.7407 GBAS 0 genome.wustl.edu 37 7 56062600 56062600 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 56062600 56062600 C T SNP GBAS ENST00000322090 human ensembl 74_37 +1 known missense c.631 p.R211C 1.000 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors GBAS HGNC ENSG00000146729 296 0 0 93 43 31.6176 ZNF733P 0 genome.wustl.edu 37 7 62752299 62752299 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 62752299 62752299 G A SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.139 - - - no_errors ZNF733P HGNC ENSG00000185037 78 0 0 47 32 40.5063 RSPH10B2 0 genome.wustl.edu 37 7 6838127 6838127 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 6838127 6838127 G A SNP RSPH10B2 ENST00000297186 human ensembl 74_37 +1 known missense c.2566 p.V856M 0.000 NULL pfam_MORN,smart_MORN - no_errors RSPH10B2 HGNC ENSG00000169402 50 0 0 20 11 35.4839 WBSCR17 0 genome.wustl.edu 37 7 70800582 70800582 + Silent SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 70800582 70800582 T G SNP WBSCR17 ENST00000333538 human ensembl 74_37 +1 known silent c.285 p.G95 0.999 NULL pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors WBSCR17 HGNC ENSG00000185274 106 0 0 26 32 55.1724 CLIP2 0 genome.wustl.edu 37 7 73771749 73771749 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 73771749 73771749 C A SNP CLIP2 ENST00000223398 human ensembl 74_37 +1 known missense c.1157 p.T386K 1.000 NULL pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,superfamily_t-SNARE,pfscan_CAP-Gly_domain - no_errors CLIP2 HGNC ENSG00000106665 61 0 0 26 14 35 MAGI2 0 genome.wustl.edu 37 7 77789517 77789517 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 77789517 77789517 G A SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known silent c.2670 p.Y890 1.000 superfamily_PDZ 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 MAGI2 HGNC ENSG00000187391 97 0 0 29 21 42 CACNA2D1 0 genome.wustl.edu 37 7 81599268 81599268 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 81599268 81599268 G A SNP CACNA2D1 ENST00000356253 human ensembl 74_37 -1 known missense c.2273 p.T758I 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 105 0 0 46 9 16.3636 KIAA1324L 0 genome.wustl.edu 37 7 86522242 86522242 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 86522242 86522242 G A SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known nonsense c.2860 p.Q954* 1.000 NULL superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 91 0 0 41 31 43.0556 PEX1 0 genome.wustl.edu 37 7 92118635 92118635 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 92118635 92118635 C T SNP PEX1 ENST00000248633 human ensembl 74_37 -1 known missense c.3739 p.E1247K 0.998 NULL pfam_ATPase_AAA_core,pfam_Peroxisome_synth_fac_1_a/b,pfam_PEX-1N,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,superfamily_Asp_de-COase-like_dom,smart_AAA+_ATPase - no_errors PEX1 HGNC ENSG00000127980 53 0 0 15 11 42.3077 RBM48 0 genome.wustl.edu 37 7 92164141 92164141 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 92164141 92164141 C T SNP RBM48 ENST00000265732 human ensembl 74_37 +1 known missense c.874 p.R292C 0.000 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 68 0 0 26 15 36.5854 STAG3 0 genome.wustl.edu 37 7 99779803 99779803 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 99779803 99779803 G A SNP STAG3 ENST00000317296 human ensembl 74_37 +1 known silent c.207 p.P69 0.152 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG3 HGNC ENSG00000066923 91 0 0 31 18 36.7347 SLC25A32 0 genome.wustl.edu 37 8 104414250 104414250 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 104414250 104414250 A G SNP SLC25A32 ENST00000521645 human ensembl 74_37 -1 known missense c.424 p.W142R 0.999 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A32 HGNC ENSG00000164933 50 0 0 32 15 31.9149 RIMS2 0 genome.wustl.edu 37 8 105025741 105025741 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 105025741 105025741 G A SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3116 p.R1039Q 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 94 0 0 83 27 24.5455 DPYS 0 genome.wustl.edu 37 8 105456608 105456608 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 105456608 105456608 G A SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.661 p.R221C 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 69 0 0 50 18 26.4706 OXR1 0 genome.wustl.edu 37 8 107695429 107695429 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 107695429 107695429 T C SNP OXR1 ENST00000442977 human ensembl 74_37 +1 known silent c.309 p.V103 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 88 0 0 67 32 32.3232 XKR6 0 genome.wustl.edu 37 8 11058241 11058241 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 11058241 11058241 C G SNP XKR6 ENST00000416569 human ensembl 74_37 -1 known missense c.608 p.G203A 1.000 pfam_Transport_prot_XK pfam_Transport_prot_XK - no_errors XKR6 HGNC ENSG00000171044 51 0 0 29 7 19.4444 FAM167A 0 genome.wustl.edu 37 8 11301796 11301796 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 11301796 11301796 C T SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known missense c.125 p.R42H 1.000 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 199 0 0 100 41 29.078 ZHX2 0 genome.wustl.edu 37 8 123965245 123965245 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 123965245 123965245 G A SNP ZHX2 ENST00000314393 human ensembl 74_37 +1 known missense c.1495 p.V499I 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZHX2 HGNC ENSG00000178764 105 0 0 44 23 34.3284 FAM91A1 0 genome.wustl.edu 37 8 124812010 124812010 + Splice_Site SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 124812010 124812010 A G SNP FAM91A1 ENST00000334705 human ensembl 74_37 +1 known splice_site c.1696-2 e18-2 1.000 - - - no_errors FAM91A1 HGNC ENSG00000176853 152 0 0 140 71 33.6493 FER1L6 0 genome.wustl.edu 37 8 125015462 125015462 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 125015462 125015462 T C SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known silent c.1575 p.A525 0.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 170 0 0 98 41 29.4964 KCNQ3 0 genome.wustl.edu 37 8 133196585 133196585 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 133196585 133196585 G A SNP KCNQ3 ENST00000388996 human ensembl 74_37 -1 known silent c.507 p.A169 0.443 pfam_Ion_trans_dom,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ3,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ3 HGNC ENSG00000184156 228 0 0 96 40 29.4118 WISP1 0 genome.wustl.edu 37 8 134225170 134225170 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 134225170 134225170 C T SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.133 p.R45C 1.000 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 64 0 0 23 6 20.6897 WISP1 0 genome.wustl.edu 37 8 134239807 134239807 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 134239807 134239807 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.958 p.V320M 0.831 pfam_Cys_knot,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 151 0 0 113 32 22.069 COL22A1 0 genome.wustl.edu 37 8 139833454 139833454 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 139833454 139833454 G A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.1170 p.I390 0.941 superfamily_ConA-like_lec_gl_sf,smart_Laminin_G pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 94 0 0 70 20 22.2222 KCNK9 0 genome.wustl.edu 37 8 140714992 140714992 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 140714992 140714992 C T SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.244 p.G82S 1.000 pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 43 0 0 23 6 20.6897 BAI1 0 genome.wustl.edu 37 8 143570413 143570413 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 143570413 143570413 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.2470 p.V824M 0.997 pfam_DUF3497 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 39 0 0 11 5 31.25 SCRIB 0 genome.wustl.edu 37 8 144887368 144887368 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 144887368 144887368 C T SNP SCRIB ENST00000320476 human ensembl 74_37 -1 known missense c.2584 p.V862M 0.049 superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 25 0 0 21 5 19.2308 EPPK1 0 genome.wustl.edu 37 8 144946750 144946750 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 144946750 144946750 C T SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known silent c.672 p.S224 0.014 smart_Plectin_repeat pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 40 0 0 25 3 10.7143 PLEC 0 genome.wustl.edu 37 8 144990725 144990725 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 144990725 144990725 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13675 p.A4559T 0.998 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 227 1 0.438596 106 33 23.741 PLEC 0 genome.wustl.edu 37 8 144991258 144991258 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 144991258 144991258 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.13142 p.R4381H 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 163 0 0 53 26 32.9114 PLEC 0 genome.wustl.edu 37 8 144996042 144996042 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 144996042 144996042 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.8358 p.L2786 0.994 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 59 0 0 18 8 30.7692 PLEC 0 genome.wustl.edu 37 8 145003355 145003355 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145003355 145003355 G T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.3587 p.A1196E 0.316 smart_Spectrin/alpha-actinin pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 26 0 0 10 4 28.5714 PLEC 0 genome.wustl.edu 37 8 145011331 145011331 + Splice_Site SNP A A T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145011331 145011331 A T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known splice_site c.753+2 e4+2 1.000 - - - no_errors PLEC HGNC ENSG00000178209 95 0 0 49 15 23.4375 GPAA1 0 genome.wustl.edu 37 8 145139999 145139999 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145139999 145139999 C T SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known silent c.1218 p.P406 0.001 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 70 0 0 41 4 8.88889 CYC1 0 genome.wustl.edu 37 8 145151105 145151105 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145151105 145151105 G A SNP CYC1 ENST00000318911 human ensembl 74_37 +1 known silent c.405 p.L135 1.000 pfam_Cyt_c1,superfamily_Cyt_c-like_dom pfam_Cyt_c1,superfamily_Cyt_c-like_dom,superfamily_Cyt_c1_TM_anchor_C,prints_Cyt_c1 - no_errors CYC1 HGNC ENSG00000179091 444 0 0 162 63 28 MAF1 0 genome.wustl.edu 37 8 145161313 145161313 + Missense_Mutation SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145161313 145161313 A C SNP MAF1 ENST00000322428 human ensembl 74_37 +1 known missense c.446 p.Q149P 1.000 pfam_Maf1,pirsf_Maf1 pfam_Maf1,pirsf_Maf1 - no_errors MAF1 HGNC ENSG00000179632 72 0 0 35 21 37.5 DGAT1 0 genome.wustl.edu 37 8 145541626 145541626 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145541626 145541626 C T SNP DGAT1 ENST00000332324 human ensembl 74_37 -1 known missense c.806 p.R269H 1.000 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom - no_errors DGAT1 HGNC ENSG00000185000 130 0 0 38 14 26.9231 PCM1 0 genome.wustl.edu 37 8 17824624 17824624 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 17824624 17824624 G A SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known silent c.3357 p.Q1119 1.000 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 18 0 0 6 5 45.4545 PSD3 0 genome.wustl.edu 37 8 18541569 18541569 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 18541569 18541569 G A SNP PSD3 ENST00000521878 human ensembl 74_37 -1 known rna NULL NULL 0.926 - - - no_errors PSD3 HGNC ENSG00000156011 20 0 0 20 8 28.5714 ZNF596 0 genome.wustl.edu 37 8 195449 195449 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 195449 195449 G T SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known missense c.602 p.G201V 0.995 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 ZNF596 HGNC ENSG00000172748 96 0 0 93 34 26.7717 DMTN 0 genome.wustl.edu 37 8 21938939 21938939 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 21938939 21938939 C T SNP DMTN ENST00000265800 human ensembl 74_37 +1 known missense c.1183 p.R395W 1.000 pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin_headpiece,pfscan_Villin_headpiece - no_errors DMTN HGNC ENSG00000158856 167 0 0 77 19 19.7917 HR 0 genome.wustl.edu 37 8 21985065 21985065 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 21985065 21985065 G T SNP HR ENST00000381418 human ensembl 74_37 -1 known missense c.890 p.P297Q 0.669 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors HR HGNC ENSG00000168453 88 0 0 77 7 8.33333 LGI3 0 genome.wustl.edu 37 8 22005888 22005888 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 22005888 22005888 G A SNP LGI3 ENST00000306317 human ensembl 74_37 -1 known missense c.1432 p.R478C 0.998 pfam_EPTP,pfscan_EAR pfam_EPTP,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR - no_errors LGI3 HGNC ENSG00000168481 54 0 0 18 8 30.7692 BMP1 0 genome.wustl.edu 37 8 22054887 22054887 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 22054887 22054887 C T SNP BMP1 ENST00000306385 human ensembl 74_37 +1 known silent c.2061 p.S687 0.461 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 BMP1 HGNC ENSG00000168487 407 0 0 177 54 23.3766 NEFM 0 genome.wustl.edu 37 8 24771385 24771385 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 24771385 24771385 G A SNP NEFM ENST00000221166 human ensembl 74_37 +1 known missense c.79 p.V27I 0.009 pfam_Intermed_filament_DNA-bd pfam_IF,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 54 0 0 24 9 27.2727 STMN4 0 genome.wustl.edu 37 8 27097502 27097502 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 27097502 27097502 G A SNP STMN4 ENST00000350889 human ensembl 74_37 -1 known missense c.577 p.R193W 1.000 pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam pfam_Stathmin_fam,superfamily_Stathmin_fam,pirsf_Stathmin_fam,prints_Stathmin_fam - no_errors STMN4 HGNC ENSG00000015592 109 1 0.909091 59 16 21.3333 CHRNA2 0 genome.wustl.edu 37 8 27320682 27320682 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 27320682 27320682 T C SNP CHRNA2 ENST00000407991 human ensembl 74_37 -1 known silent c.1278 p.A426 0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA2 HGNC ENSG00000120903 133 0 0 81 24 22.8571 KIF13B 0 genome.wustl.edu 37 8 28967542 28967542 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 28967542 28967542 C T SNP KIF13B ENST00000524189 human ensembl 74_37 -1 known missense c.3976 p.A1326T 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13B HGNC ENSG00000197892 14 0 0 9 4 30.7692 GTF2E2 0 genome.wustl.edu 37 8 30511088 30511088 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 30511088 30511088 C A SNP GTF2E2 ENST00000355904 human ensembl 74_37 -1 known nonsense c.28 p.E10* 1.000 pirsf_TFIIE-bsu pfam_TFIIE_bsu_DNA-bd,pirsf_TFIIE-bsu - no_errors GTF2E2 HGNC ENSG00000197265 94 0 0 85 29 25.4386 PURG 0 genome.wustl.edu 37 8 30889510 30889510 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 30889510 30889510 C T SNP PURG ENST00000475541 human ensembl 74_37 -1 known silent c.789 p.E263 1.000 pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd - no_errors PURG HGNC ENSG00000172733 123 0 0 79 39 33.0508 NRG1 0 genome.wustl.edu 37 8 32613965 32613965 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 32613965 32613965 G A SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.872 p.R291Q 1.000 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 191 0 0 114 47 29.1925 UNC5D 0 genome.wustl.edu 37 8 35425752 35425752 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 35425752 35425752 C T SNP UNC5D ENST00000404895 human ensembl 74_37 +1 known silent c.459 p.R153 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 126 0 0 125 15 10.7143 DDHD2 0 genome.wustl.edu 37 8 38111155 38111155 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 38111155 38111155 G A SNP DDHD2 ENST00000397166 human ensembl 74_37 +1 known missense c.1973 p.R658H 1.000 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfam_WWE-dom,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD,pfscan_WWE-dom - no_errors DDHD2 HGNC ENSG00000085788 195 0 0 144 43 22.9947 PPAPDC1B 0 genome.wustl.edu 37 8 38123659 38123659 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 38123659 38123659 C A SNP PPAPDC1B ENST00000422581 human ensembl 74_37 -1 known nonsense c.634 p.G212* 1.000 smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors PPAPDC1B HGNC ENSG00000147535 50 0 0 25 5 16.6667 HTRA4 0 genome.wustl.edu 37 8 38835654 38835654 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 38835654 38835654 T C SNP HTRA4 ENST00000302495 human ensembl 74_37 +1 known silent c.954 p.D318 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,prints_Peptidase_S1C pfam_Peptidase_S1,pfam_PDZ,pfam_Kazal_dom,superfamily_Trypsin-like_Pept_dom,superfamily_PDZ,smart_Kazal_dom,smart_PDZ,pfscan_PDZ,prints_Peptidase_S1C - no_errors HTRA4 HGNC ENSG00000169495 81 0 0 37 9 19.5652 TM2D2 0 genome.wustl.edu 37 8 38853837 38853837 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 38853837 38853837 T G SNP TM2D2 ENST00000456397 human ensembl 74_37 -1 known missense c.122 p.E41A 0.208 NULL pfam_TM2 - no_errors TM2D2 HGNC ENSG00000169490 214 0 0 67 25 27.1739 ANK1 0 genome.wustl.edu 37 8 41551521 41551521 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 41551521 41551521 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known missense c.3427 p.R1143C 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 ANK1 HGNC ENSG00000029534 107 0 0 37 11 22.9167 ANK1 0 genome.wustl.edu 37 8 41583411 41583411 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 41583411 41583411 G A SNP ANK1 ENST00000396942 human ensembl 74_37 -1 known silent c.480 p.V160 0.995 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK1 HGNC ENSG00000029534 45 0 0 20 15 42.8571 PXDNL 0 genome.wustl.edu 37 8 52321634 52321634 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 52321634 52321634 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2550 p.A850 0.018 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 43 0 0 31 7 18.4211 PXDNL 0 genome.wustl.edu 37 8 52325815 52325815 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 52325815 52325815 A G SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.1799 p.I600T 0.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 81 0 0 44 16 26.6667 NPBWR1 0 genome.wustl.edu 37 8 53853444 53853444 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 53853444 53853444 C T SNP NPBWR1 ENST00000331251 human ensembl 74_37 +1 known missense c.977 p.A326V 0.062 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_Opioid_rcpt - no_errors NPBWR1 HGNC ENSG00000183729 38 0 0 32 6 15.7895 TGS1 0 genome.wustl.edu 37 8 56708701 56708701 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 56708701 56708701 T C SNP TGS1 ENST00000260129 human ensembl 74_37 +1 known missense c.1532 p.I511T 0.985 NULL pfam_RNA_cap_Gua-N2-MeTrfase,pfam_RNA_methylase_dom,pfam_tRNA_Trfase_Trm5/Tyw2 - no_errors TGS1 HGNC ENSG00000137574 26 0 0 35 3 7.89474 MOS 0 genome.wustl.edu 37 8 57025712 57025712 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 57025712 57025712 G A SNP MOS ENST00000311923 human ensembl 74_37 -1 known missense c.830 p.A277V 0.553 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MOS HGNC ENSG00000172680 88 0 0 57 20 25.974 CHD7 0 genome.wustl.edu 37 8 61769043 61769043 + Silent SNP A A C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 61769043 61769043 A C SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known silent c.7204 p.R2402 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 49 0 0 34 6 15 MCPH1 0 genome.wustl.edu 37 8 6299603 6299603 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 6299603 6299603 A G SNP MCPH1 ENST00000344683 human ensembl 74_37 +1 known missense c.596 p.Q199R 0.001 NULL pfam_Microcephalin,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom,prints_BRCA1 - no_errors MCPH1 HGNC ENSG00000147316 58 0 0 47 17 26.5625 EYA1 0 genome.wustl.edu 37 8 72211325 72211325 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 72211325 72211325 C T SNP EYA1 ENST00000340726 human ensembl 74_37 -1 known silent c.783 p.P261 0.694 NULL pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 160 0 0 101 25 19.8413 MSC 0 genome.wustl.edu 37 8 72756093 72756093 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 72756093 72756093 C T SNP MSC ENST00000325509 human ensembl 74_37 -1 known silent c.321 p.S107 0.368 superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MSC HGNC ENSG00000178860 50 0 0 19 7 26.9231 KCNB2 0 genome.wustl.edu 37 8 73480280 73480280 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 73480280 73480280 G A SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.311 p.R104Q 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_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 143 0 0 88 30 25.4237 KCNB2 0 genome.wustl.edu 37 8 73848408 73848408 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 73848408 73848408 C T SNP KCNB2 ENST00000523207 human ensembl 74_37 +1 known missense c.818 p.A273V 1.000 pfam_Ion_trans_dom,prints_K_chnl 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 156 1 0.636943 99 41 29.2857 ZFHX4 0 genome.wustl.edu 37 8 77766976 77766976 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 77766976 77766976 C T SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.7819 p.R2607C 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom 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 61 0 0 45 13 22.4138 FABP9 0 genome.wustl.edu 37 8 82371419 82371419 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 82371419 82371419 G A SNP FABP9 ENST00000379071 human ensembl 74_37 -1 known missense c.227 p.A76V 1.000 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_Fatty_acid-bd - no_errors FABP9 HGNC ENSG00000205186 202 0 0 156 61 28.1106 SLC7A13 0 genome.wustl.edu 37 8 87242434 87242434 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 87242434 87242434 T C SNP SLC7A13 ENST00000297524 human ensembl 74_37 -1 known missense c.73 p.N25D 0.003 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A13 HGNC ENSG00000164893 118 0 0 91 40 30.5344 OTUD6B 0 genome.wustl.edu 37 8 92083383 92083383 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 92083383 92083383 A G SNP OTUD6B ENST00000285420 human ensembl 74_37 +1 known missense c.190 p.K64E 1.000 NULL pfam_OTU,pfam_Peptidase_C65_otubain,pfscan_OTU - no_errors OTUD6B HGNC ENSG00000155100 114 0 0 52 29 35.8025 INVS 0 genome.wustl.edu 37 9 103060391 103060391 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 103060391 103060391 C T SNP INVS ENST00000541287 human ensembl 74_37 +1 known missense c.2902 p.P968S 0.070 NULL pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 18 0 0 14 10 41.6667 OR13C5 0 genome.wustl.edu 37 9 107360981 107360981 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 107360981 107360981 G T SNP OR13C5 ENST00000374779 human ensembl 74_37 -1 known silent c.714 p.S238 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 OR13C5 HGNC ENSG00000255800 163 0 0 78 51 39.5349 ZNF462 0 genome.wustl.edu 37 9 109687834 109687834 + Silent SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 109687834 109687834 A G SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.1641 p.P547 0.196 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 42 0 0 21 11 34.375 ZNF462 0 genome.wustl.edu 37 9 109690810 109690810 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 109690810 109690810 G A SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known silent c.4617 p.P1539 0.629 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 58 0 0 37 9 19.5652 ACTL7A 0 genome.wustl.edu 37 9 111625857 111625857 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 111625857 111625857 C T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known missense c.1255 p.R419C 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 89 0 0 22 11 33.3333 SNX30 0 genome.wustl.edu 37 9 115600849 115600849 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 115600849 115600849 G A SNP SNX30 ENST00000374232 human ensembl 74_37 +1 known missense c.886 p.E296K 0.939 pfam_Vps5_C,pfam_BAR_dom pfam_Phox,pfam_Vps5_C,pfam_BAR_dom,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX30 HGNC ENSG00000148158 158 0 0 61 21 25.6098 ATP6V1G1 0 genome.wustl.edu 37 9 117359933 117359933 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 117359933 117359933 G A SNP ATP6V1G1 ENST00000374050 human ensembl 74_37 +1 known silent c.267 p.R89 0.752 tigrfam_V-ATPase_G tigrfam_V-ATPase_G - no_errors ATP6V1G1 HGNC ENSG00000136888 140 0 0 64 5 7.24638 ASTN2 0 genome.wustl.edu 37 9 119903693 119903693 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 119903693 119903693 G A SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known silent c.1080 p.R360 0.244 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 92 0 0 35 12 25.5319 ASTN2 0 genome.wustl.edu 37 9 120176910 120176910 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 120176910 120176910 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.307 p.A103T 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 9 0 0 3 2 40 TRAF1 0 genome.wustl.edu 37 9 123675736 123675736 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 123675736 123675736 C A SNP TRAF1 ENST00000373887 human ensembl 74_37 -1 known missense c.575 p.G192V 0.989 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,superfamily_TRAF-like,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH - no_errors TRAF1 HGNC ENSG00000056558 104 0 0 34 17 33.3333 GSN 0 genome.wustl.edu 37 9 124064376 124064376 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 124064376 124064376 G A SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.280 p.A94T 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 298 0 0 104 13 11.1111 GSN 0 genome.wustl.edu 37 9 124079433 124079433 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 124079433 124079433 C A SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.976 p.L326M 1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 346 0 0 136 14 9.33333 GSN 0 genome.wustl.edu 37 9 124091285 124091285 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 124091285 124091285 C T SNP GSN ENST00000373818 human ensembl 74_37 +1 known missense c.2032 p.R678C 0.984 smart_Villin/Gelsolin pfam_Gelsolin_dom,smart_Villin/Gelsolin,prints_Villin/Gelsolin - no_errors GSN HGNC ENSG00000148180 33 0 0 30 11 26.8293 GARNL3 0 genome.wustl.edu 37 9 130111298 130111298 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 130111298 130111298 C T SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known silent c.1527 p.G509 1.000 pfam_Citron,smart_Citron pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 82 0 0 27 19 41.3043 ST6GALNAC6 0 genome.wustl.edu 37 9 130648926 130648926 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 130648926 130648926 C T SNP ST6GALNAC6 ENST00000373142 human ensembl 74_37 -1 putative missense c.950 p.R317H 1.000 NULL pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 180 0 0 35 22 38.5965 GOLGA2 0 genome.wustl.edu 37 9 131020423 131020423 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 131020423 131020423 G A SNP GOLGA2 ENST00000421699 human ensembl 74_37 -1 known missense c.2263 p.R755C 0.000 NULL superfamily_CofA_tubulin-bd - no_errors GOLGA2 HGNC ENSG00000167110 34 0 0 8 8 50 MPDZ 0 genome.wustl.edu 37 9 13121774 13121774 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 13121774 13121774 G A SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.5195 p.P1732L 1.000 pfam_PDZ,superfamily_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 104 0 0 36 17 32.0755 NUP188 0 genome.wustl.edu 37 9 131718660 131718660 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 131718660 131718660 A G SNP NUP188 ENST00000372577 human ensembl 74_37 +1 known missense c.193 p.K65E 1.000 pfam_Nucleoporin_Nup188 pfam_Nucleoporin_Nup188,superfamily_ARM-type_fold - no_errors NUP188 HGNC ENSG00000095319 48 0 0 15 14 48.2759 ASS1 0 genome.wustl.edu 37 9 133355792 133355792 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 133355792 133355792 G A SNP ASS1 ENST00000352480 human ensembl 74_37 +1 known missense c.794 p.R265H 1.000 pfam_Arginosuc_synth,tigrfam_Arginosuc_synth pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth - no_errors ASS1 HGNC ENSG00000130707 91 0 0 27 10 27.027 PRRC2B 0 genome.wustl.edu 37 9 134340381 134340381 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 134340381 134340381 C T SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.1636 p.R546W 0.981 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 119 0 0 20 10 33.3333 PRRC2B 0 genome.wustl.edu 37 9 134350806 134350806 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 134350806 134350806 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.3290 p.R1097H 0.369 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 41 0 0 12 3 20 OBP2B 0 genome.wustl.edu 37 9 136084560 136084560 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 136084560 136084560 C T SNP OBP2B ENST00000372034 human ensembl 74_37 -1 known silent c.27 p.T9 0.001 NULL pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,prints_von_Ebner_gland,prints_PstgldnD_synth - no_errors OBP2B HGNC ENSG00000171102 22 0 0 12 5 29.4118 VAV2 0 genome.wustl.edu 37 9 136726466 136726466 + RNA SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 136726466 136726466 G T SNP VAV2 ENST00000486113 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors VAV2 HGNC ENSG00000160293 39 0 0 6 5 45.4545 PMPCA 0 genome.wustl.edu 37 9 139317663 139317663 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 139317663 139317663 G A SNP PMPCA ENST00000371717 human ensembl 74_37 +1 known missense c.1525 p.A509T 0.994 NULL pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors PMPCA HGNC ENSG00000165688 89 0 0 25 12 32.4324 INPP5E 0 genome.wustl.edu 37 9 139324254 139324254 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 139324254 139324254 G A SNP INPP5E ENST00000371712 human ensembl 74_37 -1 known missense c.1808 p.P603L 0.999 NULL pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc - no_errors INPP5E HGNC ENSG00000148384 113 0 0 45 5 10 DPP7 0 genome.wustl.edu 37 9 140007557 140007557 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 140007557 140007557 G A SNP DPP7 ENST00000371579 human ensembl 74_37 -1 known missense c.718 p.R240C 0.601 pfam_Peptidase_S28,pfam_AB_hydrolase_1 pfam_Peptidase_S28,pfam_AB_hydrolase_1 - no_errors DPP7 HGNC ENSG00000176978 148 0 0 31 17 35.4167 NDOR1 0 genome.wustl.edu 37 9 140106987 140106987 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 140106987 140106987 C T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known missense c.247 p.P83S 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth 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 195 0 0 44 16 26.6667 EHMT1 0 genome.wustl.edu 37 9 140638440 140638440 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 140638440 140638440 C T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known silent c.1068 p.L356 0.703 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 84 0 0 36 8 18.1818 CCDC171 0 genome.wustl.edu 37 9 15594156 15594156 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 15594156 15594156 C A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.661 p.Q221K 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 81 0 0 38 14 26.9231 CNTLN 0 genome.wustl.edu 37 9 17135197 17135197 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 17135197 17135197 C T SNP CNTLN ENST00000380647 human ensembl 74_37 +1 known missense c.134 p.A45V 0.003 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 41 0 0 8 4 33.3333 KCNV2 0 genome.wustl.edu 37 9 2718877 2718877 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 2718877 2718877 C T SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.1138 p.R380C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 125 0 0 40 27 40.2985 DNAJA1 0 genome.wustl.edu 37 9 33034308 33034308 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 33034308 33034308 G A SNP DNAJA1 ENST00000330899 human ensembl 74_37 +1 known silent c.738 p.K246 1.000 pfam_DnaJ_C,superfamily_HSP40/DnaJ_pept-bd 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 73 0 0 29 15 34.0909 TLN1 0 genome.wustl.edu 37 9 35711378 35711378 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 35711378 35711378 C T SNP TLN1 ENST00000314888 human ensembl 74_37 -1 known missense c.3893 p.R1298Q 0.964 pfam_Vinculin-bd_dom,superfamily_Vinculin/catenin pfam_Talin_cent,pfam_Vinculin-bd_dom,pfam_ILWEQ_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN1 HGNC ENSG00000137076 145 0 0 55 24 30.3797 ZBTB5 0 genome.wustl.edu 37 9 37440550 37440550 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 37440550 37440550 A G SNP ZBTB5 ENST00000307750 human ensembl 74_37 -1 known missense c.1999 p.W667R 1.000 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 ZBTB5 HGNC ENSG00000168795 98 0 0 25 17 40.4762 ZNF658 0 genome.wustl.edu 37 9 40773995 40773995 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 40773995 40773995 G A SNP ZNF658 ENST00000377626 human ensembl 74_37 -1 known missense c.1280 p.P427L 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 ZNF658 HGNC ENSG00000196409 165 0 0 78 52 40 JAK2 0 genome.wustl.edu 37 9 5064999 5064999 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 5064999 5064999 C T SNP JAK2 ENST00000381652 human ensembl 74_37 +1 known silent c.1173 p.A391 0.034 pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 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 80 0 0 33 14 29.7872 KIAA1432 0 genome.wustl.edu 37 9 5765510 5765510 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 5765510 5765510 C T SNP KIAA1432 ENST00000418622 human ensembl 74_37 +1 known nonsense c.2701 p.R901* 1.000 pfam_Ribosome_control_1 pfam_Ribosome_control_1,superfamily_WD40_repeat_dom - no_errors KIAA1432 HGNC ENSG00000107036 285 1 0.34965 150 15 9.09091 FOXD4L5 0 genome.wustl.edu 37 9 70177146 70177146 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 70177146 70177146 C T SNP FOXD4L5 ENST00000377420 human ensembl 74_37 -1 known missense c.838 p.G280R 0.115 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXD4L5 HGNC ENSG00000204779 164 1 0.606061 67 12 15.1899 PGM5 0 genome.wustl.edu 37 9 70993145 70993145 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 70993145 70993145 A G SNP PGM5 ENST00000396396 human ensembl 74_37 +1 known missense c.292 p.I98V 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM5 HGNC ENSG00000154330 106 1 0.934579 68 13 16.0494 SMC5 0 genome.wustl.edu 37 9 72967216 72967216 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 72967216 72967216 G A SNP SMC5 ENST00000361138 human ensembl 74_37 +1 known missense c.3275 p.R1092Q 1.000 NULL pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase - no_errors SMC5 HGNC ENSG00000198887 183 0 0 69 23 25 TRPM3 0 genome.wustl.edu 37 9 73233871 73233871 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 73233871 73233871 C T SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known missense c.2315 p.R772H 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 86 0 0 31 24 43.6364 GCNT1 0 genome.wustl.edu 37 9 79118407 79118407 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 79118407 79118407 G A SNP GCNT1 ENST00000376730 human ensembl 74_37 +1 known silent c.1110 p.P370 0.000 pfam_Glyco_trans_14 pfam_Glyco_trans_14 - no_errors GCNT1 HGNC ENSG00000187210 118 0 0 48 26 35.1351 PRUNE2 0 genome.wustl.edu 37 9 79318668 79318668 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 79318668 79318668 T C SNP PRUNE2 ENST00000428286 human ensembl 74_37 -1 known missense c.6784 p.R2262G 0.182 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 63 0 0 31 16 34.0426 GNA14 0 genome.wustl.edu 37 9 80046280 80046280 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 80046280 80046280 C T SNP GNA14 ENST00000341700 human ensembl 74_37 -1 known missense c.550 p.G184S 1.000 pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA14 HGNC ENSG00000156049 132 0 0 54 22 28.9474 SPATA31D5P 0 genome.wustl.edu 37 9 84531633 84531633 + RNA SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 84531633 84531633 T C SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 105 0 0 46 4 8 C9orf170 0 genome.wustl.edu 37 9 89771628 89771628 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 89771628 89771628 C T SNP C9orf170 ENST00000375941 human ensembl 74_37 +1 known silent c.309 p.N103 0.000 NULL NULL - no_errors C9orf170 HGNC ENSG00000204446 105 0 0 38 18 32.1429 CDK20 0 genome.wustl.edu 37 9 90585538 90585538 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 90585538 90585538 G A SNP CDK20 ENST00000325303 human ensembl 74_37 -1 known nonsense c.508 p.R170* 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 CDK20 HGNC ENSG00000156345 53 0 0 22 9 29.0323 SEMA4D 0 genome.wustl.edu 37 9 92008486 92008486 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 92008486 92008486 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.499 p.V167I 0.992 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 115 1 0.862069 32 18 36 SYK 0 genome.wustl.edu 37 9 93607755 93607755 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 93607755 93607755 C T SNP SYK ENST00000375746 human ensembl 74_37 +1 known nonsense c.457 p.Q153* 0.998 pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors SYK HGNC ENSG00000165025 91 0 0 33 22 40 BICD2 0 genome.wustl.edu 37 9 95482663 95482663 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 95482663 95482663 C T SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known silent c.981 p.P327 0.050 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 135 0 0 43 17 28.3333 FGD3 0 genome.wustl.edu 37 9 95765277 95765277 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 95765277 95765277 G A SNP FGD3 ENST00000337352 human ensembl 74_37 +1 known missense c.524 p.R175Q 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD3 HGNC ENSG00000127084 255 0 0 79 40 33.6134 SUSD3 0 genome.wustl.edu 37 9 95841807 95841807 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 95841807 95841807 C T SNP SUSD3 ENST00000375472 human ensembl 74_37 +1 known silent c.480 p.A160 0.000 NULL pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors SUSD3 HGNC ENSG00000157303 92 0 0 28 22 44 C9orf129 0 genome.wustl.edu 37 9 96097854 96097854 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 96097854 96097854 G A SNP C9orf129 ENST00000375419 human ensembl 74_37 -1 known missense c.167 p.T56M 0.974 NULL NULL - no_errors C9orf129 HGNC ENSG00000204352 53 0 0 11 7 38.8889 PHF2 0 genome.wustl.edu 37 9 96439875 96439875 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 96439875 96439875 C T SNP PHF2 ENST00000359246 human ensembl 74_37 +1 known missense c.3208 p.R1070C 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 413 0 0 99 31 23.8462 WWC3 0 genome.wustl.edu 37 X 10078029 10078029 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 10078029 10078029 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.943 p.R315W 0.821 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 74 0 0 25 16 39.0244 NXF5 0 genome.wustl.edu 37 X 101095825 101095825 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 101095825 101095825 C A SNP NXF5 ENST00000263032 human ensembl 74_37 -1 known missense c.523 p.D175Y 1.000 NULL pfam_Tap_RNA-bd - no_errors NXF5 HGNC ENSG00000126952 141 0 0 62 31 33.3333 TCEAL5 0 genome.wustl.edu 37 X 102529304 102529304 + Missense_Mutation SNP T T G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 102529304 102529304 T G SNP TCEAL5 ENST00000372680 human ensembl 74_37 -1 known missense c.188 p.E63A 0.023 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors TCEAL5 HGNC ENSG00000204065 210 0 0 80 39 32.7731 PLP1 0 genome.wustl.edu 37 X 103041611 103041611 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 103041611 103041611 C T SNP PLP1 ENST00000303958 human ensembl 74_37 +1 known missense c.409 p.R137W 1.000 pfam_Myelin_PLP,prints_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors PLP1 HGNC ENSG00000123560 388 0 0 88 56 38.8889 NRK 0 genome.wustl.edu 37 X 105181436 105181436 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 105181436 105181436 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.3664 p.N1222D 1.000 pfam_Citron,smart_Citron 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 30 0 0 16 12 42.8571 RNF128 0 genome.wustl.edu 37 X 105970349 105970349 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 105970349 105970349 G A SNP RNF128 ENST00000255499 human ensembl 74_37 +1 known missense c.206 p.G69D 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 39 0 0 19 16 45.7143 RNF128 0 genome.wustl.edu 37 X 105970426 105970426 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 105970426 105970426 G A SNP RNF128 ENST00000255499 human ensembl 74_37 +1 known missense c.283 p.A95T 0.996 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF128 HGNC ENSG00000133135 74 0 0 21 22 51.1628 ATG4A 0 genome.wustl.edu 37 X 107372043 107372043 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 107372043 107372043 C T SNP ATG4A ENST00000372232 human ensembl 74_37 +1 known missense c.154 p.R52C 1.000 pfam_Peptidase_C54 pfam_Peptidase_C54 - no_errors ATG4A HGNC ENSG00000101844 94 0 0 38 24 38.7097 IRS4 0 genome.wustl.edu 37 X 107977352 107977352 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 107977352 107977352 T C SNP IRS4 ENST00000372129 human ensembl 74_37 -1 known silent c.2223 p.R741 0.038 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 224 0 0 117 49 29.5181 AMMECR1 0 genome.wustl.edu 37 X 109507781 109507781 + Nonsense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 109507781 109507781 C A SNP AMMECR1 ENST00000262844 human ensembl 74_37 -1 known nonsense c.520 p.G174* 1.000 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 pfam_AMMECR1_domain,superfamily_AMMECR1_domain,pfscan_AMMECR1_domain,tigrfam_AMMECR1 - no_errors AMMECR1 HGNC ENSG00000101935 273 0 0 110 56 33.7349 TRPC5 0 genome.wustl.edu 37 X 111195319 111195319 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 111195319 111195319 G A SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known silent c.330 p.G110 0.048 superfamily_Ankyrin_rpt-contain_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 270 1 0.369004 108 71 39.6648 NKRF 0 genome.wustl.edu 37 X 118724034 118724034 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 118724034 118724034 C T SNP NKRF ENST00000542113 human ensembl 74_37 -1 known missense c.1399 p.V467M 0.994 smart_dsRNA-bd_dom pfam_G_patch_dom,pfam_R3H_ss-bd,smart_dsRNA-bd_dom,smart_G_patch_dom,smart_R3H_ss-bd,pfscan_G_patch_dom,pfscan_R3H_ss-bd - no_errors NKRF HGNC ENSG00000186416 168 0 0 109 66 37.7143 GRIA3 0 genome.wustl.edu 37 X 122537368 122537368 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 122537368 122537368 C T SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known silent c.1291 p.L431 1.000 smart_Iontro_glu_rcpt pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIA3 HGNC ENSG00000125675 235 0 0 98 43 30.4965 TENM1 0 genome.wustl.edu 37 X 123514832 123514832 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 123514832 123514832 G T SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.7753 p.L2585I 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 192 0 0 124 12 8.82353 IGSF1 0 genome.wustl.edu 37 X 130417039 130417039 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 130417039 130417039 T C SNP IGSF1 ENST00000370903 human ensembl 74_37 -1 known silent c.867 p.Q289 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF1 HGNC ENSG00000147255 141 0 0 76 42 35.5932 FAM122C 0 genome.wustl.edu 37 X 133941488 133941488 + RNA SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 133941488 133941488 A G SNP FAM122C ENST00000470657 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FAM122C HGNC ENSG00000156500 33 0 0 21 6 22.2222 GPR112 0 genome.wustl.edu 37 X 135430010 135430010 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 135430010 135430010 G T SNP GPR112 ENST00000370652 human ensembl 74_37 +1 known missense c.4145 p.S1382I 0.128 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 392 0 0 116 88 43.1373 GPR101 0 genome.wustl.edu 37 X 136113044 136113044 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 136113044 136113044 G A SNP GPR101 ENST00000298110 human ensembl 74_37 -1 known missense c.790 p.R264C 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR101 HGNC ENSG00000165370 368 0 0 152 61 28.6385 SLITRK2 0 genome.wustl.edu 37 X 144906227 144906227 + Nonsense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 144906227 144906227 C T SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known nonsense c.2284 p.R762* 1.000 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 411 0 0 116 55 32.1637 FMR1 0 genome.wustl.edu 37 X 147009866 147009866 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 147009866 147009866 G A SNP FMR1 ENST00000370475 human ensembl 74_37 +1 known silent c.225 p.E75 0.998 pfam_Agenet-like_dom pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors FMR1 HGNC ENSG00000102081 376 0 0 145 50 25.641 IL3RA 0 genome.wustl.edu 37 X 1471219 1471219 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 1471219 1471219 C T SNP IL3RA ENST00000331035 human ensembl 74_37 +1 known missense c.436 p.R146C 0.000 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL3RA HGNC ENSG00000185291 523 1 0.19084 131 82 38.4977 MAGEA8 0 genome.wustl.edu 37 X 149013071 149013071 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 149013071 149013071 C T SNP MAGEA8 ENST00000286482 human ensembl 74_37 +1 known missense c.25 p.R9C 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA8 HGNC ENSG00000156009 37 0 0 14 2 12.5 GPR50 0 genome.wustl.edu 37 X 150345310 150345310 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 150345310 150345310 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known silent c.117 p.I39 0.998 pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 293 0 0 84 52 38.2353 GPR50 0 genome.wustl.edu 37 X 150349306 150349306 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 150349306 150349306 C T SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known silent c.1251 p.H417 0.001 prints_Mel_rcpt_1X pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 559 0 0 167 101 37.6866 VMA21 0 genome.wustl.edu 37 X 150573618 150573618 + RNA SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 150573618 150573618 G A SNP VMA21 ENST00000477649 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors VMA21 HGNC ENSG00000160131 15 0 0 8 6 42.8571 PLXNB3 0 genome.wustl.edu 37 X 153033730 153033730 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 153033730 153033730 C T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known silent c.1182 p.G394 0.009 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 254 0 0 50 18 26.4706 PLXNB3 0 genome.wustl.edu 37 X 153040511 153040511 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 153040511 153040511 C G SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known missense c.4177 p.L1393V 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 93 0 0 22 13 37.1429 FLNA 0 genome.wustl.edu 37 X 153593586 153593586 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 153593586 153593586 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.1609 p.V537M 0.937 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 286 0 0 61 43 41.3462 FLNA 0 genome.wustl.edu 37 X 153599571 153599571 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 153599571 153599571 C T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known missense c.43 p.A15T 1.000 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 27 0 0 10 6 37.5 PLXNA3 0 genome.wustl.edu 37 X 153694980 153694980 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 153694980 153694980 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.2951 p.A984V 0.936 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 PLXNA3 HGNC ENSG00000130827 35 0 0 11 5 31.25 MPP1 0 genome.wustl.edu 37 X 154020565 154020565 + RNA SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 154020565 154020565 C A SNP MPP1 ENST00000488694 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MPP1 HGNC ENSG00000130830 140 0 0 53 16 23.1884 FUNDC2 0 genome.wustl.edu 37 X 154280049 154280049 + Silent SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 154280049 154280049 T C SNP FUNDC2 ENST00000369498 human ensembl 74_37 +1 known silent c.465 p.P155 0.052 pfam_FUN14 pfam_FUN14 - no_errors FUNDC2 HGNC ENSG00000165775 109 0 0 36 19 34.5455 BRCC3 0 genome.wustl.edu 37 X 154348417 154348417 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 154348417 154348417 C G SNP BRCC3 ENST00000399042 human ensembl 74_37 +1 known missense c.946 p.L316V 0.988 NULL pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors BRCC3 HGNC ENSG00000185515 264 0 0 86 44 33.8462 P2RY8 0 genome.wustl.edu 37 X 1585026 1585026 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 1585026 1585026 G A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known silent c.426 p.A142 0.051 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 35 0 0 7 6 46.1538 GRPR 0 genome.wustl.edu 37 X 16170715 16170715 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 16170715 16170715 G A SNP GRPR ENST00000380289 human ensembl 74_37 +1 known missense c.1102 p.V368M 0.297 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Bombsn_rcpt,prints_Gastrin_pep_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GRPR HGNC ENSG00000126010 400 0 0 127 92 42.0091 MAP3K15 0 genome.wustl.edu 37 X 19389099 19389099 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 19389099 19389099 G A SNP MAP3K15 ENST00000338883 human ensembl 74_37 -1 known silent c.3378 p.A1126 0.538 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 - no_errors MAP3K15 HGNC ENSG00000180815 197 0 0 48 33 40.7407 SH3KBP1 0 genome.wustl.edu 37 X 19725094 19725094 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 19725094 19725094 G A SNP SH3KBP1 ENST00000397821 human ensembl 74_37 -1 known missense c.295 p.R99W 0.999 superfamily_SH3_domain,pfscan_SH3_domain pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 72 0 0 27 20 42.5532 DHRSX 0 genome.wustl.edu 37 X 2343243 2343243 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 2343243 2343243 A G SNP DHRSX ENST00000334651 human ensembl 74_37 -1 known missense c.212 p.I71T 0.994 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH - no_errors DHRSX HGNC ENSG00000169084 195 0 0 56 50 47.1698 ZFX 0 genome.wustl.edu 37 X 24228818 24228818 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 24228818 24228818 C T SNP ZFX ENST00000540034 human ensembl 74_37 +1 known silent c.1860 p.C620 1.000 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 187 0 0 103 46 30.8725 PDK3 0 genome.wustl.edu 37 X 24483604 24483604 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 24483604 24483604 C T SNP PDK3 ENST00000441463 human ensembl 74_37 +1 known missense c.32 p.P11L 1.000 superfamily_BCDHK/PDK_N 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 61 0 0 14 7 33.3333 IL1RAPL1 0 genome.wustl.edu 37 X 29301173 29301173 + Silent SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 29301173 29301173 C T SNP IL1RAPL1 ENST00000302196 human ensembl 74_37 +1 known silent c.201 p.A67 0.995 smart_Ig_sub,pfscan_Ig-like_dom pfam_TIR_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_TIR_dom,smart_Ig_sub,smart_Ig_sub2,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom - no_errors IL1RAPL1 HGNC ENSG00000169306 112 0 0 73 40 35.3982 MXRA5 0 genome.wustl.edu 37 X 3235851 3235851 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 3235851 3235851 G A SNP MXRA5 ENST00000217939 human ensembl 74_37 -1 known silent c.5871 p.Y1957 0.970 pfam_Ig_I-set,smart_Ig_sub,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 117 0 0 55 33 37.5 FAM47A 0 genome.wustl.edu 37 X 34148467 34148467 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 34148467 34148467 C A SNP FAM47A ENST00000346193 human ensembl 74_37 -1 known missense c.1929 p.K643N 0.000 NULL NULL - no_errors FAM47A HGNC ENSG00000185448 131 1 0.757576 66 36 35.2941 CHST7 0 genome.wustl.edu 37 X 46433917 46433917 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 46433917 46433917 C T SNP CHST7 ENST00000276055 human ensembl 74_37 +1 known missense c.551 p.T184M 0.060 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST7 HGNC ENSG00000147119 48 0 0 19 10 34.4828 SLC9A7 0 genome.wustl.edu 37 X 46541838 46541838 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 46541838 46541838 T C SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known missense c.458 p.Y153C 1.000 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 105 0 0 57 30 34.4828 SSX4 0 genome.wustl.edu 37 X 48244824 48244824 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 48244824 48244824 G A SNP SSX4 ENST00000376886 human ensembl 74_37 +1 known missense c.215 p.R72H 0.169 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors SSX4 HGNC ENSG00000204645 22 0 0 14 7 33.3333 WAS 0 genome.wustl.edu 37 X 48547416 48547416 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 48547416 48547416 G A SNP WAS ENST00000376701 human ensembl 74_37 +1 known silent c.1299 p.A433 0.260 pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom pfam_WH1/EVH1,pfam_CRIB_dom,pfam_WH2_dom,superfamily_WASP_C,smart_WH1/EVH1,smart_CRIB_dom,smart_WH2_dom,pfscan_CRIB_dom,pfscan_WH1/EVH1,pfscan_WH2_dom - no_errors WAS HGNC ENSG00000015285 44 0 0 12 8 40 CACNA1F 0 genome.wustl.edu 37 X 49083447 49083447 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 49083447 49083447 C T SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.1261 p.A421T 0.002 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 98 0 0 23 9 28.125 SHROOM4 0 genome.wustl.edu 37 X 50377325 50377325 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 50377325 50377325 C T SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.1748 p.R583Q 0.997 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 90 0 0 42 14 25 SHROOM4 0 genome.wustl.edu 37 X 50557009 50557009 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 50557009 50557009 G A SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.10 p.R4W 1.000 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 47 0 0 5 7 58.3333 IQSEC2 0 genome.wustl.edu 37 X 53285133 53285133 + Missense_Mutation SNP C C G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 53285133 53285133 C G SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known missense c.848 p.G283A 1.000 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 36 0 0 10 5 33.3333 HUWE1 0 genome.wustl.edu 37 X 53573484 53573484 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 53573484 53573484 G A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10828 p.R3610W 0.992 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 45 0 0 14 12 46.1538 PHF8 0 genome.wustl.edu 37 X 54026320 54026320 + Missense_Mutation SNP C C A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 54026320 54026320 C A SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known missense c.1324 p.A442S 0.998 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 PHF8 HGNC ENSG00000172943 43 0 0 25 12 32.4324 WNK3 0 genome.wustl.edu 37 X 54263784 54263784 + Silent SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 54263784 54263784 G T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known silent c.4215 p.T1405 0.552 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 82 0 0 43 29 40.2778 WNK3 0 genome.wustl.edu 37 X 54275765 54275765 + Missense_Mutation SNP G G T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 54275765 54275765 G T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.3016 p.P1006T 0.547 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 110 0 0 47 23 32.8571 ZXDB 0 genome.wustl.edu 37 X 57618747 57618747 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 57618747 57618747 G A SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known missense c.266 p.G89D 0.965 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 57 0 0 5 9 64.2857 ZXDB 0 genome.wustl.edu 37 X 57620179 57620179 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 57620179 57620179 G A SNP ZXDB ENST00000374888 human ensembl 74_37 +1 known silent c.1698 p.T566 0.987 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZXDB HGNC ENSG00000198455 130 0 0 53 40 43.0108 HEPH 0 genome.wustl.edu 37 X 65486430 65486430 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 65486430 65486430 G A SNP HEPH ENST00000519389 human ensembl 74_37 +1 known nonsense c.3555 p.W1185* 0.979 NULL pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin - no_errors HEPH HGNC ENSG00000089472 131 0 0 55 25 31.25 ZMYM3 0 genome.wustl.edu 37 X 70469892 70469892 + Missense_Mutation SNP C C T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 70469892 70469892 C T SNP ZMYM3 ENST00000373988 human ensembl 74_37 -1 known missense c.1241 p.C414Y 1.000 pfam_Znf_MYM,smart_TRASH_dom pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 66 0 0 27 10 27.027 NONO 0 genome.wustl.edu 37 X 70516763 70516763 + Missense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 70516763 70516763 G A SNP NONO ENST00000276079 human ensembl 74_37 +1 known missense c.809 p.R270H 1.000 pfam_NOPS pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors NONO HGNC ENSG00000147140 88 0 0 30 16 34.7826 PHKA1 0 genome.wustl.edu 37 X 71829541 71829541 + Missense_Mutation SNP G G C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 71829541 71829541 G C SNP PHKA1 ENST00000373539 human ensembl 74_37 -1 known missense c.2539 p.L847V 1.000 pfam_Glyco_hydro_15 pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like - no_errors PHKA1 HGNC ENSG00000067177 226 0 0 86 46 34.8485 NAP1L2 0 genome.wustl.edu 37 X 72434188 72434188 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 72434188 72434188 G A SNP NAP1L2 ENST00000373517 human ensembl 74_37 -1 known silent c.141 p.C47 0.006 NULL pfam_NAP_family - no_errors NAP1L2 HGNC ENSG00000186462 108 0 0 53 25 32.0513 XIST 0 genome.wustl.edu 37 X 73066346 73066346 + RNA SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 73066346 73066346 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors XIST HGNC ENSG00000229807 284 0 0 89 46 34.0741 KIAA2022 0 genome.wustl.edu 37 X 73961406 73961406 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 73961406 73961406 T C SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.2986 p.M996V 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 114 0 0 50 29 36.7089 MAGEE1 0 genome.wustl.edu 37 X 75649451 75649451 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 75649451 75649451 G A SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known silent c.1128 p.S376 0.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 61 0 0 19 15 44.1176 ATRX 0 genome.wustl.edu 37 X 76939711 76939711 + Missense_Mutation SNP A A G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 76939711 76939711 A G SNP ATRX ENST00000373344 human ensembl 74_37 -1 known missense c.1037 p.L346P 1.000 NULL 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 122 0 0 147 10 6.36943 MAGT1 0 genome.wustl.edu 37 X 77150868 77150868 + Missense_Mutation SNP T T C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 77150868 77150868 T C SNP MAGT1 ENST00000358075 human ensembl 74_37 -1 known missense c.136 p.M46V 0.000 NULL pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 66 0 0 24 9 27.2727 SATL1 0 genome.wustl.edu 37 X 84362915 84362915 + Nonsense_Mutation SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 84362915 84362915 G A SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known nonsense c.1060 p.R354* 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 116 0 0 45 19 29.6875 TGIF2LX 0 genome.wustl.edu 37 X 89177108 89177108 + Silent SNP G G A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 89177108 89177108 G A SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known silent c.24 p.P8 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 150 0 0 50 29 36.7089 CDC14A 0 genome.wustl.edu 37 1 100889837 100889837 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 100889837 100889837 C - DEL CDC14A ENST00000361544 human ensembl 74_37 +1 known frame_shift_del c.369 p.Y126fs 0.021 NULL pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors CDC14A HGNC ENSG00000079335 146 0 0 68 21 23.5955 PRPF38B 0 genome.wustl.edu 37 1 109242456 109242456 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 109242456 109242456 A - DEL PRPF38B ENST00000370025 human ensembl 74_37 +1 known frame_shift_del c.1455 p.K487fs 0.995 NULL pfam_PRP38 - no_errors PRPF38B HGNC ENSG00000134186 237 0 0 82 38 31.6667 SLC16A4 0 genome.wustl.edu 37 1 110906427 110906427 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 110906427 110906427 A - DEL SLC16A4 ENST00000369779 human ensembl 74_37 -1 known frame_shift_del c.1425 p.F475fs 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 133 0 0 50 28 35.8974 FAM212B 0 genome.wustl.edu 37 1 112269925 112269925 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 112269925 112269925 C - DEL FAM212B ENST00000357260 human ensembl 74_37 -1 known frame_shift_del c.559 p.A187fs 0.001 NULL NULL - no_errors FAM212B HGNC ENSG00000197852 209 2 0.947867 65 30 31.5789 TTF2 0 genome.wustl.edu 37 1 117633229 117633229 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 117633229 117633229 T - DEL TTF2 ENST00000369466 human ensembl 74_37 +1 known frame_shift_del c.2572 p.F859fs 0.999 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 102 0 0 57 20 25.974 VPS45 0 genome.wustl.edu 37 1 150082564 150082564 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 150082564 150082564 T - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VPS45 HGNC ENSG00000136631 40 0 0 32 11 25.5814 SETDB1 0 genome.wustl.edu 37 1 150917623 150917624 + Frame_Shift_Ins INS - - GG TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 150917623 150917624 - GG INS SETDB1 ENST00000368962 human ensembl 74_37 +1 known frame_shift_ins c.1179_1180 p.T396fs 0.000:0.000 NULL smart_Tudor - no_errors SETDB1 HGNC ENSG00000143379 43 0 0 11 2 15.3846 ENSG00000231064 0 genome.wustl.edu 37 1 155174830 155174831 + RNA DEL CA CA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 155174830 155174831 CA - DEL ENSG00000231064 ENST00000422665 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-263K19.4 Clone_based_vega_gene ENSG00000231064 56 0 0 24 14 36.8421 FCRL3 0 genome.wustl.edu 37 1 157666960 157666960 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 157666960 157666960 T - DEL FCRL3 ENST00000492769 human ensembl 74_37 -1 known frame_shift_del c.814 p.R272fs 0.000 smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 100 0 0 50 23 31.5068 NDUFS2 0 genome.wustl.edu 37 1 161184004 161184004 + RNA DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 161184004 161184004 C - DEL NDUFS2 ENST00000465923 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors NDUFS2 HGNC ENSG00000158864 53 0 0 20 4 16.6667 SLC19A2 0 genome.wustl.edu 37 1 169446550 169446552 + In_Frame_Del DEL AAG AAG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 169446550 169446552 AAG - DEL SLC19A2 ENST00000236137 human ensembl 74_37 -1 known in_frame_del c.650_648 p.F217in_frame_del 1.000:1.000:1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 165 0 0 47 25 34.7222 SEC16B 0 genome.wustl.edu 37 1 177927333 177927333 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 177927333 177927333 G - DEL SEC16B ENST00000308284 human ensembl 74_37 -1 known frame_shift_del c.1299 p.S434fs 0.033 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 60 0 0 43 13 23.2143 KIAA1614 0 genome.wustl.edu 37 1 180904705 180904705 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 180904705 180904705 C - DEL KIAA1614 ENST00000367588 human ensembl 74_37 +1 known frame_shift_del c.1660 p.V556fs 0.000 NULL NULL - no_errors KIAA1614 HGNC ENSG00000135835 34 0 0 10 9 47.3684 RGS21 0 genome.wustl.edu 37 1 192335245 192335245 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 192335245 192335245 T - DEL RGS21 ENST00000417209 human ensembl 74_37 +1 known frame_shift_del c.450 p.L152fs 0.995 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS21 HGNC ENSG00000253148 76 0 0 37 8 17.7778 ENSG00000230260 0 genome.wustl.edu 37 1 197411573 197411573 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 197411573 197411573 A - DEL ENSG00000230260 ENST00000422250 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-75C23.1 Clone_based_vega_gene ENSG00000230260 22 0 0 20 5 20 LGR6 0 genome.wustl.edu 37 1 202288157 202288157 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 202288157 202288157 C - DEL LGR6 ENST00000367278 human ensembl 74_37 +1 known frame_shift_del c.2726 p.R911fs 0.000 NULL pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 165 0 0 43 16 27.1186 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 134 0 0 40 21 34.4262 CR2 0 genome.wustl.edu 37 1 207642044 207642044 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 207642044 207642044 C - DEL CR2 ENST00000367057 human ensembl 74_37 +1 known frame_shift_del c.618 p.T209fs 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR2 HGNC ENSG00000117322 273 0 0 123 45 26.7857 LAMB3 0 genome.wustl.edu 37 1 209797293 209797295 + In_Frame_Del DEL ACA ACA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 ACA ACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 209797293 209797295 ACA - DEL LAMB3 ENST00000356082 human ensembl 74_37 -1 known in_frame_del c.2029_2027 p.L676in_frame_del 0.304:0.034:0.003 NULL 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 199 0 0 44 19 30.1587 ANGEL2 0 genome.wustl.edu 37 1 213180442 213180445 + RNA DEL AAAA AAAA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 213180442 213180445 AAAA - DEL ANGEL2 ENST00000460337 human ensembl 74_37 -1 known rna NULL NULL 0.007:0.006:0.011:0.009 - - - no_errors ANGEL2 HGNC ENSG00000174606 95 0 0 48 15 23.8095 TP53BP2 0 genome.wustl.edu 37 1 223971921 223971923 + In_Frame_Del DEL CTT CTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 223971921 223971923 CTT - DEL TP53BP2 ENST00000343537 human ensembl 74_37 -1 known in_frame_del c.3259_3257 p.E1086in_frame_del 1.000:1.000:1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 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 239 0 0 120 47 28.1437 TMEM57 0 genome.wustl.edu 37 1 25775375 25775375 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 25775375 25775375 T - DEL TMEM57 ENST00000374343 human ensembl 74_37 +1 known frame_shift_del c.299 p.F102fs 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 100 0 0 50 16 24.2424 ARID1A 0 genome.wustl.edu 37 1 27102120 27102121 + Frame_Shift_Del DEL AG AG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 27102120 27102121 AG - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.5046_5047 p.S1684fs 0.997:1.000 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 61 0 0 21 21 50 HPCA 0 genome.wustl.edu 37 1 33363925 33363925 + RNA DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 33363925 33363925 G - DEL HPCA ENST00000470896 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HPCA HGNC ENSG00000121905 85 0 0 20 9 31.0345 ZMYM6 0 genome.wustl.edu 37 1 35484912 35484912 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 128 1 0.775194 20 55 73.3333 MAP7D1 0 genome.wustl.edu 37 1 36643530 36643530 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 36643530 36643530 C - DEL MAP7D1 ENST00000373151 human ensembl 74_37 +1 known frame_shift_del c.1436 p.C481fs 1.000 NULL pfam_MAP7 - no_errors MAP7D1 HGNC ENSG00000116871 191 0 0 37 34 47.8873 MEAF6 0 genome.wustl.edu 37 1 37961494 37961495 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 37961494 37961495 - T INS MEAF6 ENST00000373075 human ensembl 74_37 -1 known frame_shift_ins c.589_588 p.P196fs 1.000:1.000 NULL pfam_Hist_AcTrfase_NuA4_cplx - no_errors MEAF6 HGNC ENSG00000163875 168 0 0 78 16 17.0213 HIVEP3 0 genome.wustl.edu 37 1 42050121 42050121 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 42050121 42050121 C - DEL HIVEP3 ENST00000247584 human ensembl 74_37 -1 known frame_shift_del c.348 p.S117fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP3 HGNC ENSG00000127124 336 0 0 120 8 6.25 PHF13 0 genome.wustl.edu 37 1 6680069 6680071 + In_Frame_Del DEL GAA GAA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 6680069 6680071 GAA - DEL PHF13 ENST00000377648 human ensembl 74_37 +1 known in_frame_del c.348_350 p.K120in_frame_del 0.998:1.000:1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD - no_errors PHF13 HGNC ENSG00000116273 172 0 0 57 14 19.7183 SGIP1 0 genome.wustl.edu 37 1 67099769 67099769 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 22 0 0 11 3 21.4286 CAMTA1 0 genome.wustl.edu 37 1 7724998 7724998 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 7724998 7724998 G - DEL CAMTA1 ENST00000303635 human ensembl 74_37 +1 known frame_shift_del c.2391 p.D799fs 0.981 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 597 0 0 177 84 32.1839 RERE 0 genome.wustl.edu 37 1 8418586 8418586 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 8418586 8418586 G - DEL RERE ENST00000337907 human ensembl 74_37 -1 known frame_shift_del c.4009 p.L1337fs 1.000 pfam_Atrophin-like pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom - no_errors RERE HGNC ENSG00000142599 49 0 0 6 14 70 TTLL7 0 genome.wustl.edu 37 1 84335593 84335594 + RNA INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 84335593 84335594 - A INS TTLL7 ENST00000472688 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors TTLL7 HGNC ENSG00000137941 53 0 0 42 11 20.7547 SSX2IP 0 genome.wustl.edu 37 1 85130170 85130170 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 85130170 85130170 T - DEL SSX2IP ENST00000342203 human ensembl 74_37 -1 known frame_shift_del c.603 p.E202fs 1.000 pfam_Afadin/alpha-actinin-bd pfam_Afadin/alpha-actinin-bd - no_errors SSX2IP HGNC ENSG00000117155 100 0 0 81 50 38.1679 BARHL2 0 genome.wustl.edu 37 1 91182376 91182377 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 91182376 91182377 - G INS BARHL2 ENST00000370445 human ensembl 74_37 -1 known frame_shift_ins c.377_376 p.Q126fs 0.999:1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors BARHL2 HGNC ENSG00000143032 13 0 0 6 3 33.3333 ZNF644 0 genome.wustl.edu 37 1 91382293 91382293 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 91382293 91382293 A - DEL ZNF644 ENST00000467231 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ZNF644 HGNC ENSG00000122482 35 0 0 21 5 19.2308 LPPR5 0 genome.wustl.edu 37 1 99470032 99470033 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 1 99470032 99470033 - G INS LPPR5 ENST00000263177 human ensembl 74_37 -1 known frame_shift_ins c.196_195 p.V65fs 0.999:0.837 superfamily_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR5 Uniprot_gn ENSG00000117598 51 0 0 24 9 27.2727 GBF1 0 genome.wustl.edu 37 10 104120909 104120909 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 104120909 104120909 A - DEL GBF1 ENST00000476019 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors GBF1 HGNC ENSG00000107862 80 0 0 44 13 22.807 ADD3 0 genome.wustl.edu 37 10 111893350 111893350 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 111893350 111893350 A - DEL ADD3 ENST00000356080 human ensembl 74_37 +1 known frame_shift_del c.2095 p.K701fs 1.000 NULL pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N - no_errors ADD3 HGNC ENSG00000148700 251 2 0.790514 88 33 27.2727 FAM45A 0 genome.wustl.edu 37 10 120892208 120892208 + RNA DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 120892208 120892208 G - DEL FAM45A ENST00000462327 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM45A HGNC ENSG00000119979 46 0 0 37 14 27.451 TIAL1 0 genome.wustl.edu 37 10 121338303 121338303 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 121338303 121338303 C - DEL TIAL1 ENST00000369093 human ensembl 74_37 -1 known frame_shift_del c.542 p.G181fs 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom - no_errors TIAL1 HGNC ENSG00000151923 71 0 0 38 6 13.6364 C10orf88 0 genome.wustl.edu 37 10 124711510 124711510 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 124711510 124711510 T - DEL C10orf88 ENST00000481909 human ensembl 74_37 -1 known frame_shift_del c.401 p.N134fs 0.704 NULL NULL - no_errors C10orf88 HGNC ENSG00000119965 46 0 0 13 6 31.5789 MKI67 0 genome.wustl.edu 37 10 129913974 129913974 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 129913974 129913974 T - DEL MKI67 ENST00000368654 human ensembl 74_37 -1 known frame_shift_del c.698 p.N233fs 0.003 NULL pfam_K167R,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MKI67 HGNC ENSG00000148773 73 0 0 56 9 13.8462 CUBN 0 genome.wustl.edu 37 10 17113854 17113854 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 17113854 17113854 T - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.2418 p.A807fs 0.168 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 110 0 0 61 31 33.6957 C10orf25 0 genome.wustl.edu 37 10 45496243 45496243 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 45496243 45496243 G - DEL C10orf25 ENST00000298298 human ensembl 74_37 -1 known frame_shift_del c.65 p.P22fs 0.000 NULL NULL - no_errors C10orf25 HGNC ENSG00000165511 44 0 0 20 7 25.9259 AKR1E2 0 genome.wustl.edu 37 10 4889693 4889694 + Frame_Shift_Del DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 4889693 4889694 AA - DEL AKR1E2 ENST00000298375 human ensembl 74_37 +1 known frame_shift_del c.934_935 p.K312fs 1.000:1.000 superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1E2 HGNC ENSG00000165568 118 0 0 68 7 9.33333 MAPK8 0 genome.wustl.edu 37 10 49613018 49613019 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 49613018 49613019 - A INS MAPK8 ENST00000360332 human ensembl 74_37 +1 known frame_shift_ins c.246_247 p.N83fs 1.000:1.000 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,prints_MAPK_JNK 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,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 63 0 0 30 13 30.2326 PCDH15 0 genome.wustl.edu 37 10 55581491 55581491 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 55581491 55581491 A - DEL PCDH15 ENST00000463095 human ensembl 74_37 -1 known rna NULL NULL 0.091 - - - no_errors PCDH15 HGNC ENSG00000150275 27 0 0 15 11 42.3077 CCDC6 0 genome.wustl.edu 37 10 61665913 61665915 + In_Frame_Del DEL CTC CTC - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 61665913 61665915 CTC - DEL CCDC6 ENST00000263102 human ensembl 74_37 -1 known in_frame_del c.270_268 p.E90in_frame_del 1.000:1.000:1.000 pfam_DUF2046 pfam_DUF2046 - no_errors CCDC6 HGNC ENSG00000108091 173 0 0 44 28 38.8889 HERC4 0 genome.wustl.edu 37 10 69716603 69716604 + RNA DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 69716603 69716604 AA - DEL HERC4 ENST00000480158 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors HERC4 HGNC ENSG00000148634 69 0 0 35 18 33.9623 TET1 0 genome.wustl.edu 37 10 70446283 70446284 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 70446283 70446284 - A INS TET1 ENST00000373644 human ensembl 74_37 +1 known frame_shift_ins c.5223_5224 p.R1743fs 0.420:0.727 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 198 0 0 84 24 22.2222 CHST3 0 genome.wustl.edu 37 10 73767317 73767317 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 73767317 73767317 G - DEL CHST3 ENST00000373115 human ensembl 74_37 +1 known frame_shift_del c.528 p.G178fs 0.047 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 47 0 0 11 4 26.6667 ANXA7 0 genome.wustl.edu 37 10 75135834 75135835 + RNA DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 75135834 75135835 AA - DEL ANXA7 ENST00000463788 human ensembl 74_37 -1 known rna NULL NULL 0.003:0.004 - - - no_errors ANXA7 HGNC ENSG00000138279 15 0 0 0 7 100 FAM35A 0 genome.wustl.edu 37 10 88912390 88912390 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 88912390 88912390 A - DEL FAM35A ENST00000298786 human ensembl 74_37 +1 known frame_shift_del c.1279 p.T429fs 0.445 NULL NULL - no_errors FAM35A HGNC ENSG00000122376 94 0 0 87 15 14.7059 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 127 0 0 69 22 24.1758 PTEN 0 genome.wustl.edu 37 10 89717770 89717770 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 89717770 89717770 A - DEL PTEN ENST00000371953 human ensembl 74_37 +1 known frame_shift_del c.795 p.K267fs 0.994 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_dom,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 98 0 0 30 18 37.5 IFIT1 0 genome.wustl.edu 37 10 91163033 91163033 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 91163033 91163033 A - DEL IFIT1 ENST00000371804 human ensembl 74_37 +1 known frame_shift_del c.1001 p.K336fs 0.004 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1 HGNC ENSG00000185745 116 0 0 61 31 33.6957 CYP2C8 0 genome.wustl.edu 37 10 96827120 96827120 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 96827120 96827120 A - DEL CYP2C8 ENST00000539050 human ensembl 74_37 -1 known frame_shift_del c.68 p.L23fs 0.000 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP2C8 HGNC ENSG00000138115 98 0 0 29 21 42 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779109 97779109 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 97779109 97779109 A - DEL ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 107 0 0 56 24 30 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 185 1 0.537634 114 46 28.75 RRP12 0 genome.wustl.edu 37 10 99125718 99125718 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 10 99125718 99125718 A - DEL RRP12 ENST00000487612 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RRP12 HGNC ENSG00000052749 66 0 0 34 14 29.1667 ATM 0 genome.wustl.edu 37 11 108178656 108178656 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 108178656 108178656 A - DEL ATM ENST00000278616 human ensembl 74_37 +1 known frame_shift_del c.5707 p.K1904fs 1.000 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 70 0 0 38 13 25.4902 EXPH5 0 genome.wustl.edu 37 11 108409862 108409862 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 108409862 108409862 T - DEL EXPH5 ENST00000265843 human ensembl 74_37 -1 known frame_shift_del c.332 p.K111fs 0.064 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 245 1 0.406504 101 33 24.6269 USP2 0 genome.wustl.edu 37 11 119243862 119243862 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 119243862 119243862 C - DEL USP2 ENST00000260187 human ensembl 74_37 -1 known frame_shift_del c.329 p.G110fs 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP2 HGNC ENSG00000036672 380 1 0.262467 114 27 19.1489 NFRKB 0 genome.wustl.edu 37 11 129752496 129752496 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 129752496 129752496 T - DEL NFRKB ENST00000524794 human ensembl 74_37 -1 known frame_shift_del c.1007 p.K336fs 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 153 1 0.649351 68 22 24.4444 LDHA 0 genome.wustl.edu 37 11 18418442 18418442 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 18418442 18418442 C - DEL LDHA ENST00000540430 human ensembl 74_37 +1 known frame_shift_del c.140 p.Q49fs 0.000 pirsf_L-lactate/malate_DH pfam_Lactate/malate_DH_N,pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C,pirsf_L-lactate/malate_DH,prints_L-lactate/malate_DH,tigrfam_L-lactate_DH - no_errors LDHA HGNC ENSG00000134333 163 0 0 82 40 32.7869 SPTY2D1 0 genome.wustl.edu 37 11 18638500 18638501 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 18638500 18638501 - T INS SPTY2D1 ENST00000336349 human ensembl 74_37 -1 known frame_shift_ins c.97_96 p.D32fs 1.000:1.000 NULL pfam_Chromatin_SPT2,smart_Chromatin_SPT2 - no_errors SPTY2D1 HGNC ENSG00000179119 147 0 0 86 31 26.4957 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 101 0 0 35 18 33.9623 MED19 0 genome.wustl.edu 37 11 57472193 57472193 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 57472193 57472193 G - DEL MED19 ENST00000431606 human ensembl 74_37 -1 known frame_shift_del c.569 p.P190fs 1.000 pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 pfam_Mediator_Med19_met,pfam_DNA-dir_RNA_pol1_su_RPA34 - no_errors MED19 HGNC ENSG00000156603 157 0 0 95 9 8.65385 UBXN1 0 genome.wustl.edu 37 11 62445075 62445075 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 62445075 62445075 G - DEL UBXN1 ENST00000294119 human ensembl 74_37 -1 known frame_shift_del c.566 p.P189fs 0.735 NULL pfam_UBX,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_UBX,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_UBX - no_errors UBXN1 HGNC ENSG00000162191 184 0 0 59 29 32.9545 SLC3A2 0 genome.wustl.edu 37 11 62649529 62649529 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 62649529 62649529 A - DEL SLC3A2 ENST00000377892 human ensembl 74_37 +1 known frame_shift_del c.985 p.K331fs 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom - no_errors SLC3A2 HGNC ENSG00000168003 157 0 0 71 16 18.3908 HPX 0 genome.wustl.edu 37 11 6461701 6461701 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 6461701 6461701 A - DEL HPX ENST00000265983 human ensembl 74_37 -1 known frame_shift_del c.210 p.F70fs 0.998 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 223 0 0 63 39 38.2353 CORO1B 0 genome.wustl.edu 37 11 67209168 67209169 + Frame_Shift_Del DEL GG GG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 67209168 67209169 GG - DEL CORO1B ENST00000545016 human ensembl 74_37 -1 known frame_shift_del c.490_489 p.H164fs 0.000:0.000 NULL pfam_DUF1899,pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 59 0 0 10 4 28.5714 ARHGEF17 0 genome.wustl.edu 37 11 73021526 73021527 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 73021526 73021527 - C INS ARHGEF17 ENST00000263674 human ensembl 74_37 +1 known frame_shift_ins c.1843_1844 p.G618fs 0.011:0.000 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_WD40_repeat_dom,superfamily_Vinculin/catenin,smart_DH-domain,pfscan_DH-domain - no_errors ARHGEF17 HGNC ENSG00000110237 162 0 0 51 13 20.3125 RIC3 0 genome.wustl.edu 37 11 8159967 8159967 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 8159967 8159967 A - DEL RIC3 ENST00000524799 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RIC3 HGNC ENSG00000166405 71 0 0 33 49 59.7561 SYTL2 0 genome.wustl.edu 37 11 85468672 85468673 + Frame_Shift_Del DEL CT CT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 11 85468672 85468673 CT - DEL SYTL2 ENST00000316356 human ensembl 74_37 -1 known frame_shift_del c.97_96 p.R32fs 1.000:1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 680 0 0 354 36 9.23077 SLC17A8 0 genome.wustl.edu 37 12 100774560 100774560 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 100774560 100774560 C - DEL SLC17A8 ENST00000323346 human ensembl 74_37 +1 known frame_shift_del c.183 p.P63fs 0.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A8 HGNC ENSG00000179520 350 0 0 134 26 16.25 SBNO1 0 genome.wustl.edu 37 12 123805034 123805034 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 123805034 123805034 G - DEL SBNO1 ENST00000420886 human ensembl 74_37 -1 known frame_shift_del c.2612 p.P871fs 1.000 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 199 0 0 96 41 29.927 PXMP2 0 genome.wustl.edu 37 12 133277870 133277870 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 133277870 133277870 G - DEL PXMP2 ENST00000317479 human ensembl 74_37 +1 known frame_shift_del c.434 p.G147fs 0.036 pfam_Mpv17_PMP22 pfam_Mpv17_PMP22 - no_errors PXMP2 HGNC ENSG00000176894 268 0 0 130 11 7.80142 CACNA1C-AS1 0 genome.wustl.edu 37 12 2786184 2786184 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 13 0 0 5 6 54.5455 CACNA1C 0 genome.wustl.edu 37 12 2797835 2797835 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 2797835 2797835 G - DEL CACNA1C ENST00000399634 human ensembl 74_37 +1 known frame_shift_del c.6220 p.G2075fs 0.129 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 107 0 0 28 12 30 LRRK2 0 genome.wustl.edu 37 12 40657646 40657647 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 40657646 40657647 - A INS LRRK2 ENST00000298910 human ensembl 74_37 +1 known frame_shift_ins c.1599_1600 p.Q535fs 0.018:0.012 superfamily_ARM-type_fold 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 193 0 0 97 28 22.4 KDM5A 0 genome.wustl.edu 37 12 416953 416953 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 416953 416953 T - DEL KDM5A ENST00000399788 human ensembl 74_37 -1 known frame_shift_del c.3597 p.G1200fs 0.987 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger 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 179 1 0.555556 109 43 28.2895 DDN 0 genome.wustl.edu 37 12 49391527 49391529 + In_Frame_Del DEL CTC CTC - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 49391527 49391529 CTC - DEL DDN ENST00000421952 human ensembl 74_37 -1 known in_frame_del c.1132_1130 p.G377in_frame_del 0.029:0.020:0.021 NULL NULL - no_errors DDN HGNC ENSG00000181418 93 0 0 30 11 26.8293 TROAP 0 genome.wustl.edu 37 12 49717805 49717805 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 49717805 49717805 C - DEL TROAP ENST00000257909 human ensembl 74_37 +1 known frame_shift_del c.322 p.P109fs 0.550 NULL NULL - no_errors TROAP HGNC ENSG00000135451 182 0 0 70 16 18.6047 LETMD1 0 genome.wustl.edu 37 12 51442249 51442249 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 51442249 51442249 G - DEL LETMD1 ENST00000262055 human ensembl 74_37 +1 known frame_shift_del c.110 p.A39fs 0.995 NULL pfam_LETM1 - no_errors LETMD1 HGNC ENSG00000050426 262 1 0.380228 77 38 33.0435 PCBP2 0 genome.wustl.edu 37 12 53856278 53856278 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 53856278 53856278 C - DEL PCBP2 ENST00000603815 human ensembl 74_37 +1 known frame_shift_del c.518 p.P175fs 1.000 NULL pfam_KH_dom_type_1,pfam_KH_dom_type_2,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors PCBP2 HGNC ENSG00000197111 121 0 0 33 12 26.6667 TESPA1 0 genome.wustl.edu 37 12 55356642 55356642 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 55356642 55356642 G - DEL TESPA1 ENST00000316577 human ensembl 74_37 -1 known frame_shift_del c.1040 p.P347fs 0.008 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 55 0 0 23 14 37.8378 GDF11 0 genome.wustl.edu 37 12 56142524 56142524 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 56142524 56142524 A - DEL GDF11 ENST00000257868 human ensembl 74_37 +1 known frame_shift_del c.600 p.K201fs 1.000 pfam_TGF-b_N pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C - no_errors GDF11 HGNC ENSG00000135414 149 0 0 62 14 18.4211 NACA 0 genome.wustl.edu 37 12 57106300 57106300 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 57106300 57106300 A - DEL NACA ENST00000548386 human ensembl 74_37 -1 known rna NULL NULL 0.944 - - - no_errors NACA HGNC ENSG00000196531 142 1 0.699301 61 28 31.4607 NACA 0 genome.wustl.edu 37 12 57114418 57114418 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 57114418 57114418 G - DEL NACA ENST00000454682 human ensembl 74_37 -1 known frame_shift_del c.896 p.P299fs 0.016 NULL pfam_Nas_poly-pep-assoc_cplx_dom,superfamily_UBA-like,pfscan_Nas_poly-pep-assoc_cplx_dom - no_errors NACA HGNC ENSG00000196531 128 0 0 39 16 29.0909 MYO1A 0 genome.wustl.edu 37 12 57422573 57422573 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 177 0 0 60 22 26.8293 MBD6 0 genome.wustl.edu 37 12 57921732 57921733 + Frame_Shift_Del DEL GG GG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 57921732 57921733 GG - DEL MBD6 ENST00000355673 human ensembl 74_37 +1 known frame_shift_del c.2338_2339 p.G782fs 1.000:1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd - no_errors MBD6 HGNC ENSG00000166987 151 0 0 54 15 21.7391 NUP107 0 genome.wustl.edu 37 12 69126366 69126366 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 69126366 69126366 A - DEL NUP107 ENST00000401003 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NUP107 HGNC ENSG00000111581 17 0 0 5 6 54.5455 EEA1 0 genome.wustl.edu 37 12 93236245 93236245 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 12 93236245 93236245 T - DEL EEA1 ENST00000322349 human ensembl 74_37 -1 known frame_shift_del c.911 p.N304fs 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 17 0 0 15 9 37.5 MYO16 0 genome.wustl.edu 37 13 109661386 109661386 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 109661386 109661386 T - DEL MYO16 ENST00000356711 human ensembl 74_37 +1 known frame_shift_del c.2518 p.F842fs 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 107 1 0.925926 61 24 28.2353 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 23 0 0 22 13 37.1429 PABPC3 0 genome.wustl.edu 37 13 25670801 25670802 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 25670801 25670802 - A INS PABPC3 ENST00000281589 human ensembl 74_37 +1 known frame_shift_ins c.465_466 p.M157fs 1.000:1.000 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 PABPC3 HGNC ENSG00000151846 183 0 0 80 41 33.8843 SLC46A3 0 genome.wustl.edu 37 13 29291959 29291959 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 29291959 29291959 A - DEL SLC46A3 ENST00000266943 human ensembl 74_37 -1 known frame_shift_del c.177 p.F59fs 0.551 pfam_MFS pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC46A3 HGNC ENSG00000139508 187 0 0 89 36 28.8 SLC7A1 0 genome.wustl.edu 37 13 30091766 30091766 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 30091766 30091766 T - DEL SLC7A1 ENST00000380752 human ensembl 74_37 -1 known frame_shift_del c.1454 p.N485fs 0.488 pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1,tigrfam_Cat_AA_permease - no_errors SLC7A1 HGNC ENSG00000139514 342 0 0 125 45 26.4706 BRCA2 0 genome.wustl.edu 37 13 32907421 32907421 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 32907421 32907421 A - DEL BRCA2 ENST00000380152 human ensembl 74_37 +1 known frame_shift_del c.1806 p.I605fs 0.544 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 72 0 0 37 17 31.4815 LRRC63 0 genome.wustl.edu 37 13 46844471 46844471 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 46844471 46844471 G - DEL LRRC63 ENST00000446175 human ensembl 74_37 +1 known frame_shift_del c.1553 p.A520fs 0.849 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC63 HGNC ENSG00000173988 117 0 0 56 20 26.3158 SETDB2 0 genome.wustl.edu 37 13 50065970 50065970 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 50065970 50065970 A - DEL SETDB2 ENST00000317257 human ensembl 74_37 +1 known frame_shift_del c.2145 p.I718fs 0.859 NULL pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom - no_errors SETDB2 HGNC ENSG00000136169 132 0 0 60 31 34.0659 SERPINE3 0 genome.wustl.edu 37 13 51922451 51922451 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 51922451 51922451 C - DEL SERPINE3 ENST00000521255 human ensembl 74_37 +1 known frame_shift_del c.803 p.L270fs 0.002 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINE3 HGNC ENSG00000253309 60 0 0 30 8 21.0526 VPS36 0 genome.wustl.edu 37 13 52999942 52999942 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 52999942 52999942 A - DEL VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors VPS36 HGNC ENSG00000136100 13 0 0 16 8 33.3333 VPS36 0 genome.wustl.edu 37 13 53000037 53000038 + RNA INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 53000037 53000038 - A INS VPS36 ENST00000492650 human ensembl 74_37 -1 known rna NULL NULL 0.009:0.000 - - - no_errors VPS36 HGNC ENSG00000136100 81 0 0 35 22 38.5965 TBC1D4 0 genome.wustl.edu 37 13 75869048 75869048 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 75869048 75869048 G - DEL TBC1D4 ENST00000377636 human ensembl 74_37 -1 known frame_shift_del c.3258 p.W1087fs 0.972 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 TBC1D4 HGNC ENSG00000136111 102 0 0 55 22 28.5714 ABCC4 0 genome.wustl.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 95696016 95696016 T - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.3655 p.I1219fs 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 149 0 0 60 31 34.0659 ABCC4 0 genome.wustl.edu 37 13 95735432 95735432 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 13 95735432 95735432 A - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.2648 p.L883fs 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,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 126 0 0 40 23 36.5079 OR4N2 0 genome.wustl.edu 37 14 20296108 20296108 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 20296108 20296108 T - DEL OR4N2 ENST00000315947 human ensembl 74_37 +1 known frame_shift_del c.501 p.C169fs 0.422 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N2 HGNC ENSG00000176294 490 0 0 260 43 14.1914 ENSG00000258908 0 genome.wustl.edu 37 14 20943125 20943125 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 20943125 20943125 T - DEL ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 125 0 0 63 26 29.2135 ENSG00000270433 0 genome.wustl.edu 37 14 23764353 23764355 + RNA DEL AAA AAA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 23764353 23764355 AAA - DEL ENSG00000270433 ENST00000604456 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.002:0.007 - - - no_errors RP11-124D2.7 Clone_based_vega_gene ENSG00000270433 24 0 0 10 4 28.5714 CBLN3 0 genome.wustl.edu 37 14 24898055 24898055 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 24898055 24898055 G - DEL CBLN3 ENST00000267406 human ensembl 74_37 -1 known frame_shift_del c.206 p.P69fs 0.868 smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN3 HGNC ENSG00000139899 37 0 0 10 6 37.5 ARHGAP5 0 genome.wustl.edu 37 14 32562545 32562545 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 32562545 32562545 T - DEL ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known frame_shift_del c.2670 p.F892fs 0.999 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 82 0 0 21 50 70.4225 RALGAPA1 0 genome.wustl.edu 37 14 36155847 36155847 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 36155847 36155847 T - DEL RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known frame_shift_del c.2601 p.K867fs 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 26 0 0 17 5 22.7273 MIS18BP1 0 genome.wustl.edu 37 14 45711240 45711241 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 45711240 45711241 - T INS MIS18BP1 ENST00000310806 human ensembl 74_37 -1 known frame_shift_ins c.1140_1139 p.N380fs 0.073:0.064 NULL pfam_SANTA,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MIS18BP1 HGNC ENSG00000129534 167 1 0.595238 60 27 31.0345 NIN 0 genome.wustl.edu 37 14 51239111 51239113 + In_Frame_Del DEL AGG AGG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 51239111 51239113 AGG - DEL NIN ENST00000245441 human ensembl 74_37 -1 known in_frame_del c.889_887 p.S296in_frame_del 1.000:1.000:1.000 NULL superfamily_tRNA-bd_arm,pfscan_EF_hand_dom - no_errors NIN HGNC ENSG00000100503 95 0 0 35 14 28.5714 NID2 0 genome.wustl.edu 37 14 52481919 52481919 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 52481919 52481919 G - DEL NID2 ENST00000216286 human ensembl 74_37 -1 known frame_shift_del c.3103 p.R1035fs 0.061 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,pfscan_Thyroglobulin_1 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_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,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 NID2 HGNC ENSG00000087303 183 0 0 50 16 24.2424 GCH1 0 genome.wustl.edu 37 14 55309835 55309835 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 55309835 55309835 A - DEL GCH1 ENST00000254299 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GCH1 HGNC ENSG00000131979 19 0 0 12 4 25 ARID4A 0 genome.wustl.edu 37 14 58814451 58814451 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 58814451 58814451 A - DEL ARID4A ENST00000355431 human ensembl 74_37 +1 known frame_shift_del c.1259 p.D423fs 0.935 NULL pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 96 0 0 49 30 37.9747 FAM71D 0 genome.wustl.edu 37 14 67664853 67664853 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 67664853 67664853 T - DEL FAM71D ENST00000531566 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM71D HGNC ENSG00000172717 147 0 0 59 25 29.7619 YLPM1 0 genome.wustl.edu 37 14 75230471 75230471 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 75230471 75230471 G - DEL YLPM1 ENST00000325680 human ensembl 74_37 +1 known frame_shift_del c.279 p.G95fs 0.840 NULL superfamily_P-loop_NTPase - no_errors YLPM1 HGNC ENSG00000119596 105 0 0 22 16 42.1053 CEP128 0 genome.wustl.edu 37 14 80963839 80963840 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 80963839 80963840 - T INS CEP128 ENST00000281129 human ensembl 74_37 -1 known frame_shift_ins c.3268_3267 p.E1089fs 0.997:0.996 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 42 0 0 27 15 35.7143 RPS6KA5 0 genome.wustl.edu 37 14 91366489 91366489 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 91366489 91366489 T - DEL RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known frame_shift_del c.1342 p.S448fs 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_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 152 0 0 81 21 20.5882 RPS6KA5 0 genome.wustl.edu 37 14 91444703 91444703 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 91444703 91444703 A - DEL RPS6KA5 ENST00000261991 human ensembl 74_37 -1 known frame_shift_del c.341 p.L114fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA5 HGNC ENSG00000100784 220 0 0 115 49 29.878 TRIP11 0 genome.wustl.edu 37 14 92472698 92472698 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 14 92472698 92472698 T - DEL TRIP11 ENST00000267622 human ensembl 74_37 -1 known frame_shift_del c.1622 p.K541fs 0.995 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 58 0 0 44 21 32.3077 LOC101927079 0 genome.wustl.edu 37 15 22332413 22332413 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 22332413 22332413 A - DEL LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.693 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 115 0 0 61 23 27.381 LOC101927079 0 genome.wustl.edu 37 15 22332594 22332594 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 22332594 22332594 T - DEL LOC101927079 ENST00000558896 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors RP11-69H14.6 Clone_based_vega_gene ENSG00000259176 285 0 0 186 22 10.5769 SNHG14 0 genome.wustl.edu 37 15 25227367 25227367 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 25227367 25227367 T - DEL SNHG14 ENST00000551361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 22 0 0 14 6 30 OCA2 0 genome.wustl.edu 37 15 28200305 28200305 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 28200305 28200305 T - DEL OCA2 ENST00000354638 human ensembl 74_37 -1 known frame_shift_del c.1841 p.K614fs 1.000 pfam_Cit_transptr-like_dom,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 283 1 0.352113 99 35 26.1194 SLC12A1 0 genome.wustl.edu 37 15 48548096 48548096 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 48548096 48548096 A - DEL SLC12A1 ENST00000380993 human ensembl 74_37 +1 known frame_shift_del c.2031 p.N679fs 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 27 0 0 2 3 60 FGF7 0 genome.wustl.edu 37 15 49776644 49776644 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 49776644 49776644 A - DEL FGF7 ENST00000267843 human ensembl 74_37 +1 known frame_shift_del c.528 p.T179fs 0.929 pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF7 HGNC ENSG00000140285 62 0 0 56 12 17.6471 SLTM 0 genome.wustl.edu 37 15 59185211 59185211 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 59185211 59185211 T - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1783 p.R595fs 1.000 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 48 0 0 29 19 39.5833 SLTM 0 genome.wustl.edu 37 15 59186310 59186310 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 59186310 59186310 T - DEL SLTM ENST00000380516 human ensembl 74_37 -1 known frame_shift_del c.1460 p.N487fs 0.076 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 48 0 0 28 6 17.6471 DIS3L 0 genome.wustl.edu 37 15 66607460 66607460 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 66607460 66607460 A - DEL DIS3L ENST00000319212 human ensembl 74_37 +1 known frame_shift_del c.901 p.N302fs 0.000 NULL NULL - no_errors DIS3L HGNC ENSG00000166938 153 0 0 92 10 9.80392 RASGRF1 0 genome.wustl.edu 37 15 79291158 79291158 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 15 79291158 79291158 G - DEL RASGRF1 ENST00000419573 human ensembl 74_37 -1 known frame_shift_del c.2804 p.P935fs 0.964 pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_Ras_GEF_dom,superfamily_DH-domain,smart_Pleckstrin_homology,smart_DH-domain,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRF1 HGNC ENSG00000058335 113 0 0 42 15 26.3158 SRRM2 0 genome.wustl.edu 37 16 2809032 2809034 + In_Frame_Del DEL AAG AAG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 2809032 2809034 AAG - DEL SRRM2 ENST00000301740 human ensembl 74_37 +1 known in_frame_del c.640_642 p.K217in_frame_del 1.000:1.000:1.000 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 149 0 0 51 26 33.7662 CLN3 0 genome.wustl.edu 37 16 28495431 28495434 + Frame_Shift_Del DEL AAGA AAGA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AAGA AAGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 28495431 28495434 AAGA - DEL CLN3 ENST00000359984 human ensembl 74_37 -1 known frame_shift_del c.686_683 p.F228fs 0.941:0.958:0.990:0.998 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 38 0 0 10 5 33.3333 ASPHD1 0 genome.wustl.edu 37 16 29912627 29912628 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 29912627 29912628 - T INS ASPHD1 ENST00000308748 human ensembl 74_37 +1 known frame_shift_ins c.335_336 p.G113fs 0.007:0.004 NULL pfam_Asp_Arg_b-Hydrxlase - no_errors ASPHD1 HGNC ENSG00000174939 182 0 0 43 27 38.5714 ZNF48 0 genome.wustl.edu 37 16 30409299 30409299 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 30409299 30409299 G - DEL ZNF48 ENST00000320159 human ensembl 74_37 +1 known frame_shift_del c.728 p.E245fs 0.150 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF48 HGNC ENSG00000180035 132 0 0 37 16 30.1887 CLDN9 0 genome.wustl.edu 37 16 3063895 3063895 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 3063895 3063895 G - DEL CLDN9 ENST00000445369 human ensembl 74_37 +1 known frame_shift_del c.532 p.L180fs 0.976 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin9 - no_errors CLDN9 HGNC ENSG00000213937 88 0 0 11 34 75.5556 CLDN6 0 genome.wustl.edu 37 16 3065456 3065456 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 3065456 3065456 C - DEL CLDN6 ENST00000328796 human ensembl 74_37 -1 known frame_shift_del c.567 p.S190fs 0.007 prints_Claudin6 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 132 1 0.75188 30 22 42.3077 ZSCAN32 0 genome.wustl.edu 37 16 3433514 3433515 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 3433514 3433515 - T INS ZSCAN32 ENST00000396846 human ensembl 74_37 -1 known frame_shift_ins c.1432_1431 p.S477fs 0.010:0.010 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 ZSCAN32 HGNC ENSG00000140987 147 0 0 58 35 37.6344 LOC100506083 0 genome.wustl.edu 37 16 70349837 70349838 + RNA INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 70349837 70349838 - T INS LOC100506083 ENST00000562077 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors RP11-529K1.2 Clone_based_vega_gene ENSG00000261777 162 0 0 95 46 32.6241 SF3B3 0 genome.wustl.edu 37 16 70599405 70599405 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 70599405 70599405 A - DEL SF3B3 ENST00000302516 human ensembl 74_37 +1 known frame_shift_del c.2804 p.K936fs 1.000 pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom pfam_Cleavage/polyA-sp_fac_asu_C,superfamily_WD40_repeat_dom - no_errors SF3B3 HGNC ENSG00000189091 114 0 0 65 13 16.6667 CFDP1 0 genome.wustl.edu 37 16 75448501 75448501 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 75448501 75448501 T - DEL CFDP1 ENST00000283882 human ensembl 74_37 -1 known frame_shift_del c.157 p.R53fs 1.000 NULL pfam_BCNT-C - no_errors CFDP1 HGNC ENSG00000153774 282 0 0 96 35 26.7176 SNAI3-AS1 0 genome.wustl.edu 37 16 88752672 88752673 + RNA INS - - CT TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 16 88752672 88752673 - CT INS SNAI3-AS1 ENST00000567997 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors SNAI3-AS1 HGNC ENSG00000260630 15 0 0 6 8 57.1429 ENSG00000226145 0 genome.wustl.edu 37 17 16725607 16725607 + RNA DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 16725607 16725607 C - DEL ENSG00000226145 ENST00000417510 human ensembl 74_37 -1 known rna NULL NULL 0.534 - - - no_errors AC022596.6 Clone_based_vega_gene ENSG00000226145 44 0 0 22 14 38.8889 MPRIP 0 genome.wustl.edu 37 17 17061827 17061827 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 17061827 17061827 G - DEL MPRIP ENST00000395811 human ensembl 74_37 +1 known frame_shift_del c.1557 p.E521fs 0.000 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 80 0 0 18 11 37.931 SRR 0 genome.wustl.edu 37 17 2224617 2224618 + Frame_Shift_Del DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 2224617 2224618 AA - DEL SRR ENST00000344595 human ensembl 74_37 +1 known frame_shift_del c.417_418 p.R141fs 0.053:0.043 pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SRR HGNC ENSG00000167720 200 0 0 73 43 37.069 NLK 0 genome.wustl.edu 37 17 26449740 26449740 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 26449740 26449740 T - DEL NLK ENST00000407008 human ensembl 74_37 +1 known frame_shift_del c.570 p.F192fs 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 187 0 0 67 31 31.6327 LOC101927911 0 genome.wustl.edu 37 17 2868825 2868825 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 2868825 2868825 T - DEL LOC101927911 ENST00000574885 human ensembl 74_37 -1 known rna NULL NULL 0.588 - - - no_errors CTD-3060P21.1 Clone_based_vega_gene ENSG00000262884 29 0 0 4 6 60 AOC2 0 genome.wustl.edu 37 17 40997348 40997348 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 40997348 40997348 C - DEL AOC2 ENST00000253799 human ensembl 74_37 +1 known frame_shift_del c.705 p.V237fs 0.992 pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N3,pfam_Cu_amine_oxidase_N2,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC2 HGNC ENSG00000131480 177 0 0 92 6 6.12245 HOXB7 0 genome.wustl.edu 37 17 46685063 46685063 + RNA DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 46685063 46685063 G - DEL HOXB7 ENST00000567101 human ensembl 74_37 -1 known rna NULL NULL 0.019 - - - no_errors HOXB7 HGNC ENSG00000260027 11 0 0 5 4 44.4444 XYLT2 0 genome.wustl.edu 37 17 48433966 48433967 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 48433966 48433967 - C INS XYLT2 ENST00000017003 human ensembl 74_37 +1 known frame_shift_ins c.1577_1578 p.G529fs 1.000:1.000 pfam_XylT pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 166 0 0 63 17 21.25 BZRAP1 0 genome.wustl.edu 37 17 56400095 56400095 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 56400095 56400095 C - DEL BZRAP1 ENST00000355701 human ensembl 74_37 -1 known frame_shift_del c.1237 p.V413fs 1.000 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 166 0 0 34 18 34.6154 RNF43 0 genome.wustl.edu 37 17 56435161 56435161 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 341 2 0.58309 88 37 29.6 RNF43 0 genome.wustl.edu 37 17 56437531 56437531 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 56437531 56437531 G - DEL RNF43 ENST00000407977 human ensembl 74_37 -1 known frame_shift_del c.931 p.L311fs 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 246 1 0.404858 66 36 35.2941 PRR11 0 genome.wustl.edu 37 17 57271001 57271002 + In_Frame_Ins INS - - TCC TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 57271001 57271002 - TCC INS PRR11 ENST00000262293 human ensembl 74_37 +1 known in_frame_ins c.551_552 p.188in_frame_insP 0.135:0.523 NULL NULL - no_errors PRR11 HGNC ENSG00000068489 113 0 0 44 16 26.6667 SLC16A6 0 genome.wustl.edu 37 17 66270150 66270150 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 66270150 66270150 C - DEL SLC16A6 ENST00000327268 human ensembl 74_37 -1 known frame_shift_del c.294 p.L99fs 0.006 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A6 HGNC ENSG00000108932 117 1 0.847458 37 12 24.4898 SLC16A13 0 genome.wustl.edu 37 17 6939720 6939720 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 6939720 6939720 C - DEL SLC16A13 ENST00000308027 human ensembl 74_37 +1 known frame_shift_del c.19 p.D9fs 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A13 HGNC ENSG00000174327 214 0 0 66 20 23.2558 YBX2 0 genome.wustl.edu 37 17 7193637 7193637 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 7193637 7193637 G - DEL YBX2 ENST00000007699 human ensembl 74_37 -1 known frame_shift_del c.677 p.P226fs 0.892 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot,prints_CSP_DNA-bd - no_errors YBX2 HGNC ENSG00000006047 445 1 0.224215 165 68 29.1845 KIAA0195 0 genome.wustl.edu 37 17 73491063 73491063 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 251 0 0 56 76 57.5758 SENP3-EIF4A1 0 genome.wustl.edu 37 17 7481907 7481907 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 7481907 7481907 T - DEL SENP3-EIF4A1 ENST00000579777 human ensembl 74_37 +1 known rna NULL NULL 0.653 - - - no_errors SENP3-EIF4A1 HGNC ENSG00000265500 24 0 0 13 2 13.3333 KDM6B 0 genome.wustl.edu 37 17 7751995 7751995 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 7751995 7751995 C - DEL KDM6B ENST00000254846 human ensembl 74_37 +1 known frame_shift_del c.2389 p.S799fs 0.986 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 78 0 0 15 10 40 CARD14 0 genome.wustl.edu 37 17 78176025 78176025 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 17 78176025 78176025 G - DEL CARD14 ENST00000344227 human ensembl 74_37 +1 known frame_shift_del c.2025 p.D677fs 0.199 NULL 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 154 0 0 46 18 28.125 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 26 0 0 25 10 28.5714 KLHL14 0 genome.wustl.edu 37 18 30349862 30349862 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 75 0 0 28 17 37.7778 ZBTB7C 0 genome.wustl.edu 37 18 45566519 45566519 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 45566519 45566519 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.960 p.P321fs 0.989 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 ZBTB7C HGNC ENSG00000184828 153 0 0 73 22 23.1579 ZBTB7C 0 genome.wustl.edu 37 18 45567085 45567085 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 45567085 45567085 C - DEL ZBTB7C ENST00000332053 human ensembl 74_37 -1 known frame_shift_del c.394 p.D132fs 0.050 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 ZBTB7C HGNC ENSG00000184828 61 0 0 24 7 22.5806 ENSG00000267040 0 genome.wustl.edu 37 18 55335787 55335790 + RNA DEL AAAA AAAA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AAAA AAAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 55335787 55335790 AAAA - DEL ENSG00000267040 ENST00000592201 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.000:0.000 - - - no_errors RP11-35G9.3 Clone_based_vega_gene ENSG00000267040 32 0 0 26 6 18.75 PHLPP1 0 genome.wustl.edu 37 18 60639886 60639887 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 18 60639886 60639887 - A INS PHLPP1 ENST00000262719 human ensembl 74_37 +1 known frame_shift_ins c.3700_3701 p.T1236fs 1.000:1.000 pfam_PP2C-like_dom,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 59 0 0 23 6 20.6897 SERPINB10 0 genome.wustl.edu 37 18 61584739 61584739 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 38 0 0 21 8 27.5862 DNM2 0 genome.wustl.edu 37 19 10940881 10940882 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 10940881 10940882 - C INS DNM2 ENST00000314646 human ensembl 74_37 +1 known frame_shift_ins c.2370_2371 p.L792fs 0.894:1.000 NULL 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 DNM2 HGNC ENSG00000079805 234 0 0 59 25 29.7619 DAZAP1 0 genome.wustl.edu 37 19 1432590 1432590 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 1432590 1432590 G - DEL DAZAP1 ENST00000233078 human ensembl 74_37 +1 known frame_shift_del c.949 p.A318fs 0.997 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors DAZAP1 HGNC ENSG00000071626 349 0 0 94 31 24.8 MAP1S 0 genome.wustl.edu 37 19 17838362 17838362 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 17838362 17838362 C - DEL MAP1S ENST00000324096 human ensembl 74_37 +1 known frame_shift_del c.2169 p.R725fs 0.000 NULL NULL - no_errors MAP1S HGNC ENSG00000130479 84 0 0 14 10 41.6667 CILP2 0 genome.wustl.edu 37 19 19656228 19656229 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 19656228 19656229 - G INS CILP2 ENST00000291495 human ensembl 74_37 +1 known frame_shift_ins c.2874_2875 p.S960fs 0.023:0.999 NULL 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 73 0 0 17 8 32 ZNF77 0 genome.wustl.edu 37 19 2933664 2933666 + In_Frame_Del DEL ACT ACT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 ACT ACT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 2933664 2933666 ACT - DEL ZNF77 ENST00000314531 human ensembl 74_37 -1 known in_frame_del c.1461_1459 p.S487in_frame_del 0.919:0.988:0.996 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 ZNF77 HGNC ENSG00000175691 115 0 0 60 25 29.4118 RGS9BP 0 genome.wustl.edu 37 19 33167776 33167776 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 33167776 33167776 G - DEL RGS9BP ENST00000334176 human ensembl 74_37 +1 known frame_shift_del c.607 p.G205fs 0.000 NULL NULL - no_errors RGS9BP HGNC ENSG00000186326 34 0 0 5 8 61.5385 KMT2B 0 genome.wustl.edu 37 19 36210763 36210764 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 36210763 36210764 - C INS KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_ins c.514_515 p.K176fs 0.976:0.976 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 208 0 0 77 32 29.3578 ZNF566 0 genome.wustl.edu 37 19 36940209 36940209 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 36940209 36940209 T - DEL ZNF566 ENST00000392170 human ensembl 74_37 -1 known frame_shift_del c.930 p.K310fs 0.997 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 ZNF566 HGNC ENSG00000186017 136 0 0 79 22 21.7822 FCGBP 0 genome.wustl.edu 37 19 40411726 40411726 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 40411726 40411726 C - DEL FCGBP ENST00000221347 human ensembl 74_37 -1 known frame_shift_del c.3902 p.G1301fs 0.067 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 520 0 0 163 23 12.3656 PSG11 0 genome.wustl.edu 37 19 43530519 43530519 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 43530519 43530519 C - DEL PSG11 ENST00000320078 human ensembl 74_37 -1 known frame_shift_del c.6 p.L4fs 0.114 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 275 0 0 126 23 15.4362 IRGQ 0 genome.wustl.edu 37 19 44096194 44096194 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 44096194 44096194 G - DEL IRGQ ENST00000422989 human ensembl 74_37 -1 known frame_shift_del c.1856 p.P619fs 0.001 NULL superfamily_P-loop_NTPase - no_errors IRGQ HGNC ENSG00000167378 402 0 0 132 54 29.0323 PLIN4 0 genome.wustl.edu 37 19 4512150 4512150 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 4512150 4512150 C - DEL PLIN4 ENST00000301286 human ensembl 74_37 -1 novel frame_shift_del c.1780 p.A594fs 0.766 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 680 0 0 239 82 25.5452 TICAM1 0 genome.wustl.edu 37 19 4816465 4816465 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 4816465 4816465 G - DEL TICAM1 ENST00000248244 human ensembl 74_37 -1 known frame_shift_del c.1925 p.P642fs 0.003 pirsf_TICAM1 superfamily_TIR_dom,pirsf_TICAM1 - no_errors TICAM1 HGNC ENSG00000127666 50 0 0 16 4 20 LMTK3 0 genome.wustl.edu 37 19 49001688 49001688 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 49001688 49001688 C - DEL LMTK3 ENST00000270238 human ensembl 74_37 -1 known frame_shift_del c.2725 p.A909fs 0.003 smart_Ser/Thr_dual-sp_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 23 0 0 7 4 36.3636 PRR12 0 genome.wustl.edu 37 19 50099279 50099280 + Frame_Shift_Del DEL CA CA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 50099279 50099280 CA - DEL PRR12 ENST00000418929 human ensembl 74_37 +1 novel frame_shift_del c.1687_1688 p.I564fs 0.998:0.999 NULL NULL - no_errors PRR12 HGNC ENSG00000126464 198 0 0 44 16 26.6667 PTOV1 0 genome.wustl.edu 37 19 50363526 50363527 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 50363526 50363527 - G INS PTOV1 ENST00000391842 human ensembl 74_37 +1 known frame_shift_ins c.1241_1242 p.*417fs 1.000:1.000 NULL pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 69 0 0 16 4 20 KLK8 0 genome.wustl.edu 37 19 51503681 51503682 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 51503681 51503682 - T INS KLK8 ENST00000391806 human ensembl 74_37 -1 known frame_shift_ins c.364_363 p.P121fs 0.090:0.490 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 KLK8 HGNC ENSG00000129455 303 0 0 88 28 24.1379 ZNF702P 0 genome.wustl.edu 37 19 53473566 53473566 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 53473566 53473566 T - DEL ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.021 - - - no_errors ZNF702P HGNC ENSG00000242779 104 0 0 61 34 35.7895 BRSK1 0 genome.wustl.edu 37 19 55815036 55815036 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 175 1 0.568182 61 33 35.1064 BSG 0 genome.wustl.edu 37 19 577814 577814 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 577814 577814 G - DEL BSG ENST00000333511 human ensembl 74_37 +1 known frame_shift_del c.108 p.G38fs 0.472 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 BSG HGNC ENSG00000172270 9 0 0 4 2 33.3333 ZNF17 0 genome.wustl.edu 37 19 57932545 57932545 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 57932545 57932545 T - DEL ZNF17 ENST00000601808 human ensembl 74_37 +1 known frame_shift_del c.1685 p.F563fs 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 ZNF17 HGNC ENSG00000186272 97 0 0 43 22 33.8462 ZNF549 0 genome.wustl.edu 37 19 58049657 58049657 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 58049657 58049657 A - DEL ZNF549 ENST00000376233 human ensembl 74_37 +1 known frame_shift_del c.1285 p.R431fs 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 ZNF549 HGNC ENSG00000121406 129 0 0 53 33 38.3721 RANBP3 0 genome.wustl.edu 37 19 5951588 5951588 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 5951588 5951588 T - DEL RANBP3 ENST00000340578 human ensembl 74_37 -1 known frame_shift_del c.98 p.N33fs 1.000 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 53 0 0 24 3 11.1111 OR7E24 0 genome.wustl.edu 37 19 9361741 9361741 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 19 9361741 9361741 T - DEL OR7E24 ENST00000456448 human ensembl 74_37 +1 known frame_shift_del c.22 p.F11fs 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 21 0 0 12 13 52 RANBP2 0 genome.wustl.edu 37 2 109389413 109389413 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 109389413 109389413 T - DEL RANBP2 ENST00000283195 human ensembl 74_37 +1 known frame_shift_del c.8203 p.C2737fs 0.997 pfam_IR1-M 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 58 0 0 36 15 29.4118 TMEM87B 0 genome.wustl.edu 37 2 112839024 112839024 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 112839024 112839024 T - DEL TMEM87B ENST00000283206 human ensembl 74_37 +1 known frame_shift_del c.767 p.L258fs 1.000 pfam_TM_rcpt_euk pfam_TM_rcpt_euk - no_errors TMEM87B HGNC ENSG00000153214 222 0 0 91 32 26.0163 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 183 1 0.543478 65 61 48.4127 RIF1 0 genome.wustl.edu 37 2 152320541 152320541 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 152320541 152320541 A - DEL RIF1 ENST00000243326 human ensembl 74_37 +1 known frame_shift_del c.4507 p.K1505fs 0.001 NULL pfam_Rif1_N,superfamily_ARM-type_fold - no_errors RIF1 HGNC ENSG00000080345 154 1 0.645161 77 33 30 MARCH7 0 genome.wustl.edu 37 2 160604680 160604680 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 160604680 160604680 T - DEL MARCH7 ENST00000259050 human ensembl 74_37 +1 known frame_shift_del c.879 p.S296fs 0.910 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH7 HGNC ENSG00000136536 85 0 0 74 11 12.9412 TBR1 0 genome.wustl.edu 37 2 162274290 162274290 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 162274290 162274290 T - DEL TBR1 ENST00000389554 human ensembl 74_37 +1 known frame_shift_del c.796 p.Q267fs 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBR1 HGNC ENSG00000136535 105 0 0 66 12 15.3846 PXDN 0 genome.wustl.edu 37 2 1652960 1652960 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 1652960 1652960 G - DEL PXDN ENST00000252804 human ensembl 74_37 -1 known frame_shift_del c.2592 p.N865fs 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 89 0 0 17 8 32 SCN9A 0 genome.wustl.edu 37 2 167055185 167055185 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 167055185 167055185 T - DEL SCN9A ENST00000303354 human ensembl 74_37 -1 known frame_shift_del c.5967 p.K1989fs 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN9A HGNC ENSG00000169432 21 0 0 9 7 43.75 FASTKD1 0 genome.wustl.edu 37 2 170428529 170428530 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 170428529 170428530 - T INS FASTKD1 ENST00000453153 human ensembl 74_37 -1 known frame_shift_ins c.11_10 p.T4fs 0.000:0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD1 HGNC ENSG00000138399 81 0 0 42 11 20.7547 PPIG 0 genome.wustl.edu 37 2 170493804 170493804 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 170493804 170493804 A - DEL PPIG ENST00000260970 human ensembl 74_37 +1 known frame_shift_del c.2036 p.K681fs 0.885 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors PPIG HGNC ENSG00000138398 111 0 0 53 26 32.9114 NEUROD1 0 genome.wustl.edu 37 2 182542971 182542972 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 182542971 182542972 - G INS NEUROD1 ENST00000295108 human ensembl 74_37 -1 known frame_shift_ins c.617_616 p.H206fs 0.999:0.996 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD1 HGNC ENSG00000162992 198 0 0 35 21 37.5 DNAH7 0 genome.wustl.edu 37 2 196788373 196788374 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 196788373 196788374 - T INS DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_ins c.3771_3770 p.N1257fs 0.000:0.000 NULL 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 122 0 0 60 15 20 DNAH7 0 genome.wustl.edu 37 2 196801374 196801374 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 196801374 196801374 A - DEL DNAH7 ENST00000312428 human ensembl 74_37 -1 known frame_shift_del c.3221 p.L1074fs 1.000 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 120 0 0 59 16 21.3333 NOP58 0 genome.wustl.edu 37 2 203168133 203168133 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 203168133 203168133 A - DEL NOP58 ENST00000264279 human ensembl 74_37 +1 known frame_shift_del c.1564 p.K524fs 1.000 NULL pfam_Nop_dom,pfam_NOSIC,pfam_NOP5_N,smart_NOSIC - no_errors NOP58 HGNC ENSG00000055044 63 0 0 36 11 23.4043 RAPH1 0 genome.wustl.edu 37 2 204305618 204305619 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 204305618 204305619 - G INS RAPH1 ENST00000374493 human ensembl 74_37 -1 known frame_shift_ins c.2451_2450 p.P818fs 0.401:0.409 NULL pfam_Ras-assoc,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Ras-assoc,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,prints_Paxillin - no_errors RAPH1 HGNC ENSG00000173166 282 2 0.704225 60 10 14.2857 CCDC108 0 genome.wustl.edu 37 2 219883883 219883883 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 219883883 219883883 G - DEL CCDC108 ENST00000341552 human ensembl 74_37 -1 known frame_shift_del c.3492 p.V1165fs 0.000 NULL superfamily_PapD-like,pfscan_MSP_dom - no_errors CCDC108 HGNC ENSG00000181378 222 1 0.44843 51 12 19.0476 DNPEP 0 genome.wustl.edu 37 2 220239647 220239648 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 220239647 220239648 - G INS DNPEP ENST00000273075 human ensembl 74_37 -1 known frame_shift_ins c.1337_1336 p.Q446fs 1.000:1.000 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 pfam_Peptidase_M18,pfam_Peptidase_M42,prints_Peptidase_M18 - no_errors DNPEP HGNC ENSG00000123992 107 0 0 34 7 17.0732 SLC4A3 0 genome.wustl.edu 37 2 220494110 220494111 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 220494110 220494111 - C INS SLC4A3 ENST00000273063 human ensembl 74_37 +1 known frame_shift_ins c.462_463 p.H156fs 0.015:0.049 prints_Anion_exchange_3 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 47 0 0 13 3 18.75 SP140 0 genome.wustl.edu 37 2 231159024 231159025 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 231159024 231159025 - A INS SP140 ENST00000392045 human ensembl 74_37 +1 known frame_shift_ins c.2007_2008 p.R672fs 0.001:0.001 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 64 0 0 31 12 27.907 USP40 0 genome.wustl.edu 37 2 234394236 234394237 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 234394236 234394237 - T INS USP40 ENST00000450966 human ensembl 74_37 -1 known frame_shift_ins c.3478_3477 p.Q1159fs 1.000:1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP40 HGNC ENSG00000085982 54 0 0 27 5 15.625 RBM44 0 genome.wustl.edu 37 2 238727072 238727072 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 238727072 238727072 A - DEL RBM44 ENST00000316997 human ensembl 74_37 +1 known frame_shift_del c.1513 p.K506fs 0.309 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 78 0 0 32 10 23.8095 PER2 0 genome.wustl.edu 37 2 239157776 239157777 + Frame_Shift_Del DEL CT CT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 239157776 239157777 CT - DEL PER2 ENST00000254657 human ensembl 74_37 -1 known frame_shift_del c.3545_3544 p.Q1183fs 0.001:0.001 pfam_Period_circadian-like_C pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 391 0 0 173 39 18.3962 HDAC4 0 genome.wustl.edu 37 2 240002823 240002823 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 78 0 0 18 4 18.1818 ATAD2B 0 genome.wustl.edu 37 2 24098756 24098756 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 24098756 24098756 T - DEL ATAD2B ENST00000238789 human ensembl 74_37 -1 known frame_shift_del c.920 p.K307fs 1.000 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 42 0 0 21 3 12.5 HDLBP 0 genome.wustl.edu 37 2 242186274 242186274 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 242186274 242186274 T - DEL HDLBP ENST00000310931 human ensembl 74_37 -1 known frame_shift_del c.1843 p.I615fs 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 432 0 0 143 50 25.9067 COX7A2L 0 genome.wustl.edu 37 2 42578275 42578275 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 42578275 42578275 A - DEL COX7A2L ENST00000482463 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COX7A2L HGNC ENSG00000115944 20 0 0 7 5 41.6667 PRKCE 0 genome.wustl.edu 37 2 46386829 46386830 + Frame_Shift_Del DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 46386829 46386830 AA - DEL PRKCE ENST00000306156 human ensembl 74_37 +1 known frame_shift_del c.2005_2006 p.K669fs 1.000:1.000 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 PRKCE HGNC ENSG00000171132 271 0 0 74 36 32.7273 PELI1 0 genome.wustl.edu 37 2 64331929 64331931 + In_Frame_Del DEL CTT CTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 64331929 64331931 CTT - DEL PELI1 ENST00000358912 human ensembl 74_37 -1 known in_frame_del c.107_105 p.R37in_frame_del 1.000:1.000:1.000 pfam_Pellino_fam pfam_Pellino_fam - no_errors PELI1 HGNC ENSG00000197329 52 0 0 29 15 34.0909 GGCX 0 genome.wustl.edu 37 2 85780733 85780733 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 85780733 85780733 T - DEL GGCX ENST00000482662 human ensembl 74_37 -1 putative rna NULL NULL 0.004 - - - no_errors GGCX HGNC ENSG00000115486 35 0 0 15 4 21.0526 UNC50 0 genome.wustl.edu 37 2 99232795 99232795 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 99232795 99232795 T - DEL UNC50 ENST00000409347 human ensembl 74_37 +1 known frame_shift_del c.578 p.F195fs 0.997 pfam_UNC-50 pfam_UNC-50 - no_errors UNC50 HGNC ENSG00000115446 193 1 0.515464 130 52 28.5714 TAF1B 0 genome.wustl.edu 37 2 9989571 9989572 + Frame_Shift_Del DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 2 9989571 9989572 AA - DEL TAF1B ENST00000263663 human ensembl 74_37 +1 known frame_shift_del c.187_188 p.N66fs 0.991:0.950 NULL pfam_TF_Rrn7 - no_errors TAF1B HGNC ENSG00000115750 22 0 0 11 2 15.3846 PLK1S1 0 genome.wustl.edu 37 20 21143725 21143725 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 21143725 21143725 A - DEL PLK1S1 ENST00000246027 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PLK1S1 HGNC ENSG00000088970 215 1 0.462963 89 41 31.5385 NXT1 0 genome.wustl.edu 37 20 23334925 23334926 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 23334925 23334926 - A INS NXT1 ENST00000254998 human ensembl 74_37 +1 known frame_shift_ins c.247_248 p.A84fs 1.000:1.000 pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT1 HGNC ENSG00000132661 236 0 0 87 43 33.0769 ASXL1 0 genome.wustl.edu 37 20 31022442 31022442 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 31022442 31022442 G - DEL ASXL1 ENST00000375687 human ensembl 74_37 +1 known frame_shift_del c.1927 p.G645fs 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 27 0 0 15 5 25 MIR644A 0 genome.wustl.edu 37 20 33054130 33054130 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 33054130 33054130 T - DEL MIR644A ENST00000385262 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors MIR644A HGNC ENSG00000207997 34 0 0 25 14 35.8974 SAMHD1 0 genome.wustl.edu 37 20 35521429 35521429 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 35521429 35521429 T - DEL SAMHD1 ENST00000262878 human ensembl 74_37 -1 known frame_shift_del c.1787 p.K596fs 0.000 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 189 0 0 92 33 26.4 ZMYND8 0 genome.wustl.edu 37 20 45875072 45875072 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 45875072 45875072 T - DEL ZMYND8 ENST00000536340 human ensembl 74_37 -1 known frame_shift_del c.1985 p.K662fs 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 317 3 0.9375 160 74 31.6239 ZNFX1 0 genome.wustl.edu 37 20 47872464 47872465 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 47872464 47872465 - T INS ZNFX1 ENST00000371752 human ensembl 74_37 -1 known frame_shift_ins c.2685_2684 p.K896fs 1.000:1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1 - no_errors ZNFX1 HGNC ENSG00000124201 126 0 0 41 14 25.4545 KCNB1 0 genome.wustl.edu 37 20 47989891 47989891 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 47989891 47989891 G - DEL KCNB1 ENST00000371741 human ensembl 74_37 -1 known frame_shift_del c.2206 p.R736fs 1.000 prints_K_chnl_volt-dep_Kv2.1 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_Kv2.1,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 KCNB1 HGNC ENSG00000158445 188 0 0 98 19 16.2393 SYCP2 0 genome.wustl.edu 37 20 58467047 58467047 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 58467047 58467047 T - DEL SYCP2 ENST00000357552 human ensembl 74_37 -1 known frame_shift_del c.2362 p.M788fs 0.029 NULL NULL - no_errors SYCP2 HGNC ENSG00000196074 60 0 0 38 24 38.7097 HELZ2 0 genome.wustl.edu 37 20 62199825 62199825 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 20 62199825 62199825 G - DEL HELZ2 ENST00000467148 human ensembl 74_37 -1 known frame_shift_del c.1616 p.P539fs 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 20 0 0 4 2 33.3333 ITSN1 0 genome.wustl.edu 37 21 35147278 35147278 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 35147278 35147278 A - DEL ITSN1 ENST00000381285 human ensembl 74_37 +1 known frame_shift_del c.1462 p.K489fs 1.000 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 101 0 0 31 33 51.5625 BRWD1 0 genome.wustl.edu 37 21 40570895 40570896 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 40570895 40570896 - T INS BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_ins c.5447_5446 p.T1816fs 1.000:1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 206 1 0.483092 78 58 42.6471 MCM3AP 0 genome.wustl.edu 37 21 47662804 47662805 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 21 47662804 47662805 - A INS MCM3AP ENST00000291688 human ensembl 74_37 -1 known frame_shift_ins c.5338_5337 p.K1779fs 1.000:1.000 NULL pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25 - no_errors MCM3AP HGNC ENSG00000160294 163 0 0 53 6 10.1695 CCT8L2 0 genome.wustl.edu 37 22 17071787 17071787 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 17071787 17071787 T - DEL CCT8L2 ENST00000359963 human ensembl 74_37 -1 known frame_shift_del c.1654 p.I552fs 0.000 NULL pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom,prints_Chaperone_TCP-1 - no_errors CCT8L2 HGNC ENSG00000198445 169 0 0 72 38 34.5455 SGSM1 0 genome.wustl.edu 37 22 25308665 25308665 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 25308665 25308665 C - DEL SGSM1 ENST00000400359 human ensembl 74_37 +1 known frame_shift_del c.3039 p.H1015fs 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom 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 70 0 0 9 8 47.0588 RFPL1S 0 genome.wustl.edu 37 22 29837513 29837513 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 29837513 29837513 T - DEL RFPL1S ENST00000461286 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RFPL1S HGNC ENSG00000225465 149 0 0 61 33 35.1064 SMTN 0 genome.wustl.edu 37 22 31485922 31485922 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 31485922 31485922 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.709 p.S239fs 0.420 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 25 0 0 8 3 27.2727 LIMK2 0 genome.wustl.edu 37 22 31672777 31672777 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 31672777 31672777 C - DEL LIMK2 ENST00000340552 human ensembl 74_37 +1 putative frame_shift_del c.1712 p.575fs 0.996 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_PP1_inhibitor,pfam_PDZ,pfam_Znf_LIM,superfamily_Kinase-like_dom,superfamily_PP1_inhibitor,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 40 0 0 13 8 38.0952 RFPL2 0 genome.wustl.edu 37 22 32589332 32589332 + RNA DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 32589332 32589332 C - DEL RFPL2 ENST00000489846 human ensembl 74_37 -1 putative rna NULL NULL 0.001 - - - no_errors RFPL2 HGNC ENSG00000128253 106 0 0 52 20 27.7778 TRIOBP 0 genome.wustl.edu 37 22 38121788 38121789 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 38121788 38121789 - C INS TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_ins c.3225_3226 p.R1077fs 0.986:0.998 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 184 0 0 84 14 14.2857 C22orf23 0 genome.wustl.edu 37 22 38340219 38340221 + In_Frame_Del DEL CTT CTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 38340219 38340221 CTT - DEL C22orf23 ENST00000249079 human ensembl 74_37 -1 known in_frame_del c.617_615 p.R206in_frame_del 1.000:1.000:1.000 pfam_UPF0193 pfam_UPF0193 - no_errors C22orf23 HGNC ENSG00000128346 147 0 0 40 17 29.8246 CSNK1E 0 genome.wustl.edu 37 22 38698968 38698970 + In_Frame_Del DEL GTT GTT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 38698968 38698970 GTT - DEL CSNK1E ENST00000359867 human ensembl 74_37 -1 known in_frame_del c.234_232 p.N78in_frame_del 0.999:1.000:1.000 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 CSNK1E HGNC ENSG00000213923 194 0 0 55 22 28.5714 TNRC6B 0 genome.wustl.edu 37 22 40661353 40661353 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 40661353 40661353 A - DEL TNRC6B ENST00000454349 human ensembl 74_37 +1 known frame_shift_del c.1119 p.N375fs 1.000 NULL pfam_Argonaute_hook_dom,superfamily_UBA-like - no_errors TNRC6B HGNC ENSG00000100354 182 0 0 52 32 38.0952 CELSR1 0 genome.wustl.edu 37 22 46793727 46793728 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 22 46793727 46793728 - C INS CELSR1 ENST00000262738 human ensembl 74_37 -1 known frame_shift_ins c.5545_5544 p.T1848fs 1.000:1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Cadherin,pfam_DUF3497,pfam_Laminin_G,pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR1 HGNC ENSG00000075275 41 0 0 6 2 25 GPR128 0 genome.wustl.edu 37 3 100354497 100354497 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 100354497 100354497 T - DEL GPR128 ENST00000481361 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors GPR128 HGNC ENSG00000144820 82 0 0 43 10 18.8679 CD86 0 genome.wustl.edu 37 3 121838329 121838329 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 121838329 121838329 T - DEL CD86 ENST00000330540 human ensembl 74_37 +1 known frame_shift_del c.938 p.F314fs 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors CD86 HGNC ENSG00000114013 113 0 0 71 21 22.8261 H1FOO 0 genome.wustl.edu 37 3 129268112 129268113 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 129268112 129268113 - G INS H1FOO ENST00000324382 human ensembl 74_37 +1 known frame_shift_ins c.647_648 p.V217fs 0.007:0.006 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15 - no_errors H1FOO HGNC ENSG00000178804 18 0 0 4 2 33.3333 ACAD11 0 genome.wustl.edu 37 3 132322086 132322086 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 132322086 132322086 T - DEL ACAD11 ENST00000264990 human ensembl 74_37 -1 known frame_shift_del c.1608 p.K536fs 0.994 pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_Kinase-like_dom - no_errors ACAD11 HGNC ENSG00000240303 182 0 0 96 49 33.7931 TOPBP1 0 genome.wustl.edu 37 3 133329880 133329880 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 133329880 133329880 T - DEL TOPBP1 ENST00000260810 human ensembl 74_37 -1 known frame_shift_del c.4141 p.I1381fs 0.605 NULL pfam_BRCT_dom,superfamily_BRCT_dom,superfamily_Secretoglobin,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TOPBP1 HGNC ENSG00000163781 255 0 0 103 41 28.4722 U2SURP 0 genome.wustl.edu 37 3 142773947 142773948 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 142773947 142773948 - A INS U2SURP ENST00000473835 human ensembl 74_37 +1 known frame_shift_ins c.2937_2938 p.A981fs 1.000:1.000 NULL pfam_Surp,pfam_RRM_dom,superfamily_Surp,superfamily_ENTH_VHS,smart_RRM_dom,smart_Surp,smart_CID_dom,pfscan_Surp,pfscan_RRM_dom - no_errors U2SURP HGNC ENSG00000163714 26 0 0 8 3 27.2727 MED12L 0 genome.wustl.edu 37 3 151112597 151112598 + In_Frame_Ins INS - - GCA TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 151112597 151112598 - GCA INS MED12L ENST00000474524 human ensembl 74_37 +1 known in_frame_ins c.5657_5658 p.1890in_frame_insQ 0.885:1.000 pfam_Mediator_Med12_catenin-bd pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd - no_errors MED12L HGNC ENSG00000144893 162 0 0 76 29 27.619 EAF1-AS1 0 genome.wustl.edu 37 3 15480599 15480599 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 15480599 15480599 T - DEL EAF1-AS1 ENST00000494875 human ensembl 74_37 -1 known rna NULL NULL 0.925 - - - no_errors EAF1-AS1 HGNC ENSG00000249786 30 0 0 25 4 13.7931 PHC3 0 genome.wustl.edu 37 3 169896634 169896635 + In_Frame_Ins INS - - TGG TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 169896634 169896635 - TGG INS PHC3 ENST00000495893 human ensembl 74_37 -1 known in_frame_ins c.107_106 p.36in_frame_insT 0.426:0.466 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 523 1 0.19084 208 58 21.8045 NCEH1 0 genome.wustl.edu 37 3 172351857 172351857 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 172351857 172351857 T - DEL NCEH1 ENST00000538775 human ensembl 74_37 -1 known frame_shift_del c.755 p.N252fs 0.005 pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase pfam_AB_hydrolase_3,pirsf_Arylacetamide_deacetylase - no_errors NCEH1 HGNC ENSG00000144959 116 0 0 58 15 20.5479 CCDC39 0 genome.wustl.edu 37 3 180378490 180378490 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 180378490 180378490 T - DEL CCDC39 ENST00000442201 human ensembl 74_37 -1 known frame_shift_del c.384 p.K128fs 0.986 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 20 0 0 9 3 25 B3GNT5 0 genome.wustl.edu 37 3 182987674 182987674 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 182987674 182987674 T - DEL B3GNT5 ENST00000326505 human ensembl 74_37 +1 known frame_shift_del c.88 p.W32fs 0.912 NULL pfam_Glyco_trans_31,superfamily_Luciferase-like_dom - no_errors B3GNT5 HGNC ENSG00000176597 211 1 0.471698 107 49 31.4103 CHRD 0 genome.wustl.edu 37 3 184105718 184105718 + Splice_Site DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 184105718 184105718 G - DEL CHRD ENST00000204604 human ensembl 74_37 +1 known splice_site_del c.2452-1 e20-1 1.000 - - - no_errors CHRD HGNC ENSG00000090539 32 0 0 14 8 36.3636 TNK2 0 genome.wustl.edu 37 3 195595229 195595229 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 195595229 195595229 G - DEL TNK2 ENST00000381916 human ensembl 74_37 -1 known frame_shift_del c.2129 p.P710fs 0.994 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_SAM/pointed,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SH3_domain,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors TNK2 HGNC ENSG00000061938 177 1 0.561798 43 13 23.2143 DLG1 0 genome.wustl.edu 37 3 196857544 196857545 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 196857544 196857545 - A INS DLG1 ENST00000346964 human ensembl 74_37 -1 known splice_site_ins c.1120-3_1120-2 e11-2 1.000:0.869 - - - no_errors DLG1 HGNC ENSG00000075711 60 0 0 21 24 53.3333 ENSG00000232783 0 genome.wustl.edu 37 3 197838274 197838275 + RNA DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 197838274 197838275 AA - DEL ENSG00000232783 ENST00000411596 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001 - - - no_errors AC073135.3 Clone_based_vega_gene ENSG00000232783 46 0 0 28 6 17.6471 VIPR1 0 genome.wustl.edu 37 3 42569093 42569093 + RNA DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 42569093 42569093 C - DEL VIPR1 ENST00000473575 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors VIPR1 HGNC ENSG00000114812 21 0 0 8 7 46.6667 HHATL 0 genome.wustl.edu 37 3 42739670 42739672 + In_Frame_Del DEL GAA GAA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 42739670 42739672 GAA - DEL HHATL ENST00000310417 human ensembl 74_37 -1 known in_frame_del c.657_655 p.F219in_frame_del 0.986:1.000:1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 206 0 0 74 30 28.8462 ANO10 0 genome.wustl.edu 37 3 43647213 43647213 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 43647213 43647213 T - DEL ANO10 ENST00000292246 human ensembl 74_37 -1 known frame_shift_del c.132 p.D45fs 1.000 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 99 0 0 44 18 29.0323 NBEAL2 0 genome.wustl.edu 37 3 47040920 47040920 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 47040920 47040920 C - DEL NBEAL2 ENST00000450053 human ensembl 74_37 +1 known frame_shift_del c.3659 p.Q1222fs 0.984 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 NBEAL2 HGNC ENSG00000160796 13 0 0 7 5 41.6667 KIF9-AS1 0 genome.wustl.edu 37 3 47287796 47287796 + RNA DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 47287796 47287796 G - DEL KIF9-AS1 ENST00000429315 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors KIF9-AS1 HGNC ENSG00000227398 47 0 0 9 8 47.0588 LAMB2 0 genome.wustl.edu 37 3 49160436 49160436 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 49160436 49160436 C - DEL LAMB2 ENST00000305544 human ensembl 74_37 -1 known frame_shift_del c.4274 p.G1425fs 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB2 HGNC ENSG00000172037 54 0 0 20 8 28.5714 RBM6 0 genome.wustl.edu 37 3 50004794 50004795 + RNA DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 50004794 50004795 AA - DEL RBM6 ENST00000488807 human ensembl 74_37 +1 putative rna NULL NULL 1.000:1.000 - - - no_errors RBM6 HGNC ENSG00000004534 46 0 0 9 4 30.7692 DNAH1 0 genome.wustl.edu 37 3 52412624 52412624 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 52412624 52412624 C - DEL DNAH1 ENST00000420323 human ensembl 74_37 +1 known frame_shift_del c.7205 p.H2404fs 0.991 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 365 0 0 119 24 16.7832 FAM208A 0 genome.wustl.edu 37 3 56681079 56681079 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 3 56681079 56681079 A - DEL FAM208A ENST00000355628 human ensembl 74_37 -1 known frame_shift_del c.1686 p.F562fs 1.000 NULL pfam_DUF3715 - no_errors FAM208A HGNC ENSG00000163946 110 0 0 54 14 20.5882 DNAH12 0 genome.wustl.edu 37 3 57509313 57509313 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 29 0 0 28 4 12.5 SLC2A9 0 genome.wustl.edu 37 4 10027510 10027510 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 10027510 10027510 A - DEL SLC2A9 ENST00000509214 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SLC2A9 HGNC ENSG00000109667 81 0 0 47 34 41.9753 TRMT10A 0 genome.wustl.edu 37 4 100479335 100479335 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 100479335 100479335 T - DEL TRMT10A ENST00000273962 human ensembl 74_37 -1 known frame_shift_del c.219 p.K73fs 0.994 pirsf_tRNA_MeTfrase_TRM10 pfam_tRNA_m1G_MeTrfase,pirsf_tRNA_MeTfrase_TRM10 - no_errors TRMT10A HGNC ENSG00000145331 61 0 0 37 20 35.0877 LOC101929353 0 genome.wustl.edu 37 4 101111194 101111194 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 101111194 101111194 A - DEL LOC101929353 ENST00000515782 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-588P8.1 Clone_based_vega_gene ENSG00000249710 42 0 0 19 11 36.6667 LARP7 0 genome.wustl.edu 37 4 113570754 113570754 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 113570754 113570754 A - DEL LARP7 ENST00000324052 human ensembl 74_37 +1 known frame_shift_del c.1206 p.T405fs 1.000 NULL pfam_RRM_3,pfam_Lupus_La_RNA-bd,pfam_RRM_dom,smart_Lupus_La_RNA-bd,smart_RRM_dom,pfscan_Lupus_La_RNA-bd,pfscan_RRM_dom,prints_Lupus_La - no_errors LARP7 HGNC ENSG00000174720 37 0 0 23 13 36.1111 QRFPR 0 genome.wustl.edu 37 4 122250740 122250740 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 122250740 122250740 T - DEL QRFPR ENST00000394427 human ensembl 74_37 -1 known frame_shift_del c.1025 p.N342fs 1.000 pfam_7TM_GPCR_olfarory/Srsx,prints_NPY_rcpt,prints_NPFF_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 73 0 0 64 19 22.8916 ANKRD50 0 genome.wustl.edu 37 4 125591535 125591535 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 125591535 125591535 A - DEL ANKRD50 ENST00000504087 human ensembl 74_37 -1 known frame_shift_del c.2897 p.L966fs 0.998 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,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD50 HGNC ENSG00000151458 100 0 0 70 33 32.0388 BOD1L1 0 genome.wustl.edu 37 4 13610162 13610162 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 13610162 13610162 T - DEL BOD1L1 ENST00000040738 human ensembl 74_37 -1 known frame_shift_del c.1734 p.D579fs 1.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 18 0 0 3 5 62.5 SNX25 0 genome.wustl.edu 37 4 186272695 186272695 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 186272695 186272695 A - DEL SNX25 ENST00000264694 human ensembl 74_37 +1 known frame_shift_del c.1906 p.N638fs 1.000 NULL pfam_Phox_assoc,pfam_Sorting_nexin_C,pfam_RGS_dom,pfam_Phox,superfamily_Regulat_G_prot_signal_superfam,superfamily_Phox,smart_PX_assoc_Snx13,smart_Regulat_G_prot_signal_superfam,smart_Phox,pfscan_Phox,pfscan_Phox_assoc,pfscan_Regulat_G_prot_signal_superfam - no_errors SNX25 HGNC ENSG00000109762 136 0 0 71 36 33.6449 PCDH7 0 genome.wustl.edu 37 4 30726042 30726043 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 30726042 30726043 - C INS PCDH7 ENST00000543491 human ensembl 74_37 +1 known frame_shift_ins c.2998_2999 p.L1002fs 1.000:1.000 pfam_Protocadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 129 0 0 47 13 21.6667 LIAS 0 genome.wustl.edu 37 4 39462464 39462464 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 39462464 39462464 A - DEL LIAS ENST00000261434 human ensembl 74_37 +1 known frame_shift_del c.100 p.K36fs 0.641 pirsf_Lipoyl_synth pfam_rSAM,smart_Elp3/MiaB/NifB,pirsf_Lipoyl_synth,tigrfam_Lipoyl_synth - no_errors LIAS HGNC ENSG00000121897 300 1 0.332226 133 40 23.1214 ZBTB49 0 genome.wustl.edu 37 4 4304738 4304739 + Frame_Shift_Del DEL AG AG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 4304738 4304739 AG - DEL ZBTB49 ENST00000337872 human ensembl 74_37 +1 known frame_shift_del c.1175_1176 p.R393fs 1.000:1.000 NULL pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB49 HGNC ENSG00000168826 205 0 0 72 28 28 FRYL 0 genome.wustl.edu 37 4 48566025 48566025 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 48566025 48566025 G - DEL FRYL ENST00000358350 human ensembl 74_37 -1 known frame_shift_del c.3536 p.T1179fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRYL HGNC ENSG00000075539 133 0 0 72 9 11.1111 OCIAD1 0 genome.wustl.edu 37 4 48859372 48859372 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 48859372 48859372 A - DEL OCIAD1 ENST00000264312 human ensembl 74_37 +1 known frame_shift_del c.690 p.E233fs 0.300 NULL pfam_OCIA - no_errors OCIAD1 HGNC ENSG00000109180 124 0 0 62 17 21.519 C4orf6 0 genome.wustl.edu 37 4 5527116 5527116 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 5527116 5527116 T - DEL C4orf6 ENST00000195455 human ensembl 74_37 +1 known frame_shift_del c.59 p.F23fs 0.077 NULL NULL - no_errors C4orf6 HGNC ENSG00000082929 27 0 0 12 12 50 ANTXR2 0 genome.wustl.edu 37 4 80905985 80905986 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 80905985 80905986 - G INS ANTXR2 ENST00000307333 human ensembl 74_37 -1 known frame_shift_ins c.1074_1073 p.A359fs 0.994:0.992 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 40 0 0 14 2 12.5 C4orf22 0 genome.wustl.edu 37 4 81791253 81791254 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 81791253 81791254 - A INS C4orf22 ENST00000508675 human ensembl 74_37 +1 known frame_shift_ins c.491_492 p.R167fs 0.870:0.769 NULL NULL - no_errors C4orf22 HGNC ENSG00000197826 162 0 0 104 10 8.77193 SEC31A 0 genome.wustl.edu 37 4 83785565 83785565 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 103 0 0 36 49 57.6471 SLC10A6 0 genome.wustl.edu 37 4 87769943 87769943 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 87769943 87769943 C - DEL SLC10A6 ENST00000273905 human ensembl 74_37 -1 known frame_shift_del c.326 p.G109fs 1.000 pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt pfam_BilAc/Na_symport,tigrfam_Bil_ac_transpt - no_errors SLC10A6 HGNC ENSG00000145283 217 0 0 84 37 30.5785 GRID2 0 genome.wustl.edu 37 4 93225753 93225753 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 4 93225753 93225753 A - DEL GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 28 0 0 19 7 26.9231 PGGT1B 0 genome.wustl.edu 37 5 114552569 114552570 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 114552569 114552570 - C INS PGGT1B ENST00000419445 human ensembl 74_37 -1 known frame_shift_ins c.945_944 p.S315fs 1.000:1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors PGGT1B HGNC ENSG00000164219 70 0 0 16 10 38.4615 NRG2 0 genome.wustl.edu 37 5 139422136 139422136 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 139422136 139422136 C - DEL NRG2 ENST00000545385 human ensembl 74_37 -1 known frame_shift_del c.519 p.L174fs 0.976 NULL pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_EG-like_dom,pfscan_Ig-like_dom - no_errors NRG2 HGNC ENSG00000158458 143 0 0 31 8 20.5128 TRIO 0 genome.wustl.edu 37 5 14482694 14482694 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 14482694 14482694 A - DEL TRIO ENST00000344204 human ensembl 74_37 +1 known frame_shift_del c.6469 p.I2158fs 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 46 0 0 27 13 32.5 TCERG1 0 genome.wustl.edu 37 5 145886723 145886723 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 145886723 145886723 A - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863 p.K957fs 1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 180 1 0.552486 76 34 30.9091 GALNT10 0 genome.wustl.edu 37 5 153789315 153789315 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 153789315 153789315 G - DEL GALNT10 ENST00000297107 human ensembl 74_37 +1 known frame_shift_del c.1379 p.E462fs 1.000 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT10 HGNC ENSG00000164574 212 0 0 73 16 17.9775 SPDL1 0 genome.wustl.edu 37 5 169015404 169015404 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 169015404 169015404 A - DEL SPDL1 ENST00000510751 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors SPDL1 HGNC ENSG00000040275 95 0 0 41 16 28.0702 COL23A1 0 genome.wustl.edu 37 5 177683356 177683356 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 177683356 177683356 G - DEL COL23A1 ENST00000390654 human ensembl 74_37 -1 known frame_shift_del c.880 p.R294fs 0.998 pfam_Collagen pfam_Collagen - no_errors COL23A1 HGNC ENSG00000050767 48 0 0 5 4 44.4444 LOC101928649 0 genome.wustl.edu 37 5 180684516 180684516 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 180684516 180684516 T - DEL LOC101928649 ENST00000417281 human ensembl 74_37 +1 known rna NULL NULL 0.042 - - - no_errors CTC-338M12.4 Clone_based_vega_gene ENSG00000233937 62 0 0 28 13 31.7073 TTC33 0 genome.wustl.edu 37 5 40716477 40716477 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 40716477 40716477 T - DEL TTC33 ENST00000337702 human ensembl 74_37 -1 known frame_shift_del c.559 p.S187fs 0.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC33 HGNC ENSG00000113638 201 0 0 97 43 30.7143 PLK2 0 genome.wustl.edu 37 5 57753012 57753012 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 57753012 57753012 A - DEL PLK2 ENST00000274289 human ensembl 74_37 -1 known frame_shift_del c.1004 p.L335fs 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_POLO_box_duplicated_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_POLO_box_duplicated_dom,pfscan_Prot_kinase_dom - no_errors PLK2 HGNC ENSG00000145632 63 0 0 52 17 24.6377 HTR1A 0 genome.wustl.edu 37 5 63256737 63256744 + Frame_Shift_Del DEL CTTGCTCT CTTGCTCT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CTTGCTCT CTTGCTCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 63256737 63256744 CTTGCTCT - DEL HTR1A ENST00000323865 human ensembl 74_37 -1 known frame_shift_del c.810_803 p.E268fs 0.000:0.000:0.019:0.026:0.029:0.206:0.977:0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 161 0 0 42 6 12.5 MSH3 0 genome.wustl.edu 37 5 79970914 79970915 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 5 79970914 79970915 - A INS MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_ins c.1140_1141 p.G384fs 0.993:0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom 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 291 0 0 141 53 27.3196 POPDC3 0 genome.wustl.edu 37 6 105606265 105606265 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 105606265 105606265 T - DEL POPDC3 ENST00000474760 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors POPDC3 HGNC ENSG00000132429 26 0 0 14 8 36.3636 TMEM14B 0 genome.wustl.edu 37 6 10756864 10756866 + RNA DEL AAA AAA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AAA AAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 10756864 10756866 AAA - DEL TMEM14B ENST00000486421 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.015:0.019 - - - no_errors TMEM14B HGNC ENSG00000137210 18 0 0 5 4 44.4444 ENSG00000227678 0 genome.wustl.edu 37 6 130454856 130454856 + RNA DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 130454856 130454856 T - DEL ENSG00000227678 ENST00000415964 human ensembl 74_37 -1 known rna NULL NULL 0.125 - - - no_errors RP11-73O6.3 Clone_based_vega_gene ENSG00000227678 20 0 0 18 6 25 CTAGE9 0 genome.wustl.edu 37 6 132031982 132031982 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 132031982 132031982 A - DEL CTAGE9 ENST00000314099 human ensembl 74_37 -1 known frame_shift_del c.176 p.L59fs 0.000 NULL NULL - no_errors CTAGE9 HGNC ENSG00000236761 175 0 0 112 19 14.5038 SGK1 0 genome.wustl.edu 37 6 134492026 134492028 + In_Frame_Del DEL AGA AGA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 134492026 134492028 AGA - DEL SGK1 ENST00000367858 human ensembl 74_37 -1 known in_frame_del c.1351_1349 p.F450in_frame_del 1.000:1.000:1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_Phox,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors SGK1 HGNC ENSG00000118515 270 0 0 113 31 21.5278 BCLAF1 0 genome.wustl.edu 37 6 136597290 136597290 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 136597290 136597290 T - DEL BCLAF1 ENST00000531224 human ensembl 74_37 -1 known frame_shift_del c.1373 p.N458fs 1.000 NULL NULL - no_errors BCLAF1 HGNC ENSG00000029363 188 0 0 158 28 15.0538 CCDC28A 0 genome.wustl.edu 37 6 139097330 139097330 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 139097330 139097330 A - DEL CCDC28A ENST00000332797 human ensembl 74_37 +1 known frame_shift_del c.343 p.N117fs 1.000 NULL NULL - no_errors CCDC28A HGNC ENSG00000024862 174 0 0 81 48 37.2093 UTRN 0 genome.wustl.edu 37 6 144782471 144782471 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 144782471 144782471 A - DEL UTRN ENST00000367545 human ensembl 74_37 +1 known frame_shift_del c.2846 p.K951fs 0.878 smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors UTRN HGNC ENSG00000152818 340 1 0.293255 106 54 33.75 JARID2 0 genome.wustl.edu 37 6 15496722 15496722 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 15496722 15496722 G - DEL JARID2 ENST00000341776 human ensembl 74_37 +1 known frame_shift_del c.1266 p.R425fs 0.963 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 184 0 0 52 8 13.3333 WTAP 0 genome.wustl.edu 37 6 160157395 160157395 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 160157395 160157395 A - DEL WTAP ENST00000494513 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WTAP HGNC ENSG00000146457 48 0 0 30 16 34.7826 IGF2R 0 genome.wustl.edu 37 6 160485488 160485488 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 160485488 160485488 G - DEL IGF2R ENST00000356956 human ensembl 74_37 +1 known frame_shift_del c.3942 p.D1317fs 0.125 pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd - no_errors IGF2R HGNC ENSG00000197081 281 0 0 79 93 54.0698 PDE10A 0 genome.wustl.edu 37 6 165844962 165844963 + Splice_Site INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 165844962 165844963 - A INS PDE10A ENST00000539869 human ensembl 74_37 -1 known splice_site_ins c.694-3_694-2 e8-2 0.032:0.014 - - - no_errors PDE10A HGNC ENSG00000112541 181 1 0.549451 65 25 27.7778 DHX16 0 genome.wustl.edu 37 6 30621048 30621048 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 30621048 30621048 T - DEL DHX16 ENST00000376442 human ensembl 74_37 -1 known frame_shift_del c.3097 p.I1033fs 0.987 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,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,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX16 HGNC ENSG00000204560 152 0 0 44 45 50.5618 PRPF4B 0 genome.wustl.edu 37 6 4032412 4032412 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 4032412 4032412 A - DEL PRPF4B ENST00000337659 human ensembl 74_37 +1 known frame_shift_del c.661 p.K222fs 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 432 0 0 169 41 19.5238 PRPF4B 0 genome.wustl.edu 37 6 4059124 4059124 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 4059124 4059124 A - DEL PRPF4B ENST00000466185 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors PRPF4B HGNC ENSG00000112739 10 0 0 7 9 56.25 KLHDC3 0 genome.wustl.edu 37 6 42986249 42986249 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 42986249 42986249 C - DEL KLHDC3 ENST00000326974 human ensembl 74_37 +1 known frame_shift_del c.688 p.P231fs 1.000 pfam_Kelch_2,pfam_Kelch_1 pfam_Kelch_2,pfam_Kelch_1 - no_errors KLHDC3 HGNC ENSG00000124702 311 0 0 141 51 26.5625 LRRC73 0 genome.wustl.edu 37 6 43475221 43475222 + Frame_Shift_Del DEL CT CT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 43475221 43475222 CT - DEL LRRC73 ENST00000372441 human ensembl 74_37 -1 novel frame_shift_del c.853_852 p.G285fs 0.998:0.997 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC73 HGNC ENSG00000204052 143 0 0 45 14 23.7288 KLHL31 0 genome.wustl.edu 37 6 53519514 53519514 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 53519514 53519514 T - DEL KLHL31 ENST00000370905 human ensembl 74_37 -1 known frame_shift_del c.557 p.N186fs 0.258 pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 99 0 0 92 6 6.12245 KLHL31 0 genome.wustl.edu 37 6 53519758 53519759 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 53519758 53519759 - T INS KLHL31 ENST00000370905 human ensembl 74_37 -1 known frame_shift_ins c.313_312 p.D104fs 1.000:1.000 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_BTB_POZ,pfam_DUF1668_ORYSA,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL31 HGNC ENSG00000124743 242 0 0 130 44 25.2874 C6orf165 0 genome.wustl.edu 37 6 88144700 88144700 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 88144700 88144700 A - DEL C6orf165 ENST00000369562 human ensembl 74_37 +1 known frame_shift_del c.1423 p.N477fs 1.000 pfam_DUF3508 pfam_DUF3508 - no_errors C6ORF165 Uniprot_gn ENSG00000272514 109 1 0.909091 53 31 36.9048 GABRR1 0 genome.wustl.edu 37 6 89895130 89895130 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 6 89895130 89895130 T - DEL GABRR1 ENST00000454853 human ensembl 74_37 -1 known frame_shift_del c.695 p.K232fs 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,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 183 0 0 92 41 30.8271 NYAP1 0 genome.wustl.edu 37 7 100086494 100086494 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 100086494 100086494 C - DEL NYAP1 ENST00000423930 human ensembl 74_37 +1 known frame_shift_del c.1150 p.P385fs 1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 104 0 0 44 9 16.9811 SLC12A9 0 genome.wustl.edu 37 7 100452000 100452000 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 100452000 100452000 G - DEL SLC12A9 ENST00000354161 human ensembl 74_37 +1 known frame_shift_del c.181 p.F62fs 1.000 pfam_AA-permease/SLC12A_dom pfam_AA-permease/SLC12A_dom - no_errors SLC12A9 HGNC ENSG00000146828 63 0 0 23 13 36.1111 PLOD3 0 genome.wustl.edu 37 7 100855927 100855927 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 100855927 100855927 G - DEL PLOD3 ENST00000223127 human ensembl 74_37 -1 known frame_shift_del c.889 p.R297fs 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 129 0 0 28 12 30 LEP 0 genome.wustl.edu 37 7 127894705 127894705 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 127894705 127894705 G - DEL LEP ENST00000308868 human ensembl 74_37 +1 known frame_shift_del c.393 p.G133fs 0.008 pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin pfam_Leptin,superfamily_4_helix_cytokine-like_core,pirsf_Leptin,prints_Leptin - no_errors LEP HGNC ENSG00000174697 110 0 0 30 10 25 JHDM1D 0 genome.wustl.edu 37 7 139833448 139833448 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 139833448 139833448 T - DEL JHDM1D ENST00000397560 human ensembl 74_37 -1 known frame_shift_del c.289 p.R97fs 1.000 superfamily_Znf_FYVE_PHD 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 JHDM1D HGNC ENSG00000006459 92 0 0 46 15 24.5902 SSPO 0 genome.wustl.edu 37 7 149489430 149489431 + RNA DEL GT GT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 149489430 149489431 GT - DEL SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 0.482:0.998 - - - no_errors SSPO HGNC ENSG00000197558 20 0 0 3 4 57.1429 SPDYE1 0 genome.wustl.edu 37 7 44040752 44040754 + In_Frame_Del DEL AGA AGA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 44040752 44040754 AGA - DEL SPDYE1 ENST00000258704 human ensembl 74_37 +1 known in_frame_del c.128_130 p.K44in_frame_del 0.013:0.013:0.013 NULL pfam_Cell_cycle_regulatory_Spy1 - no_errors SPDYE1 HGNC ENSG00000136206 118 0 0 55 4 6.77966 RHBDD2 0 genome.wustl.edu 37 7 75512837 75512838 + RNA DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 75512837 75512838 AA - DEL RHBDD2 ENST00000467406 human ensembl 74_37 +1 putative rna NULL NULL 0.010:0.011 - - - no_errors RHBDD2 HGNC ENSG00000005486 15 0 0 12 6 33.3333 PTPN12 0 genome.wustl.edu 37 7 77247840 77247840 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 77247840 77247840 A - DEL PTPN12 ENST00000248594 human ensembl 74_37 +1 known frame_shift_del c.983 p.K329fs 1.000 pirsf_Ptpn_12 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 253 0 0 104 44 29.7297 PCLO 0 genome.wustl.edu 37 7 82582944 82582944 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 82582944 82582944 T - DEL PCLO ENST00000333891 human ensembl 74_37 -1 known frame_shift_del c.7325 p.K2442fs 0.984 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 26 0 0 11 9 45 CROT 0 genome.wustl.edu 37 7 86978480 86978480 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 86978480 86978480 A - DEL CROT ENST00000331536 human ensembl 74_37 +1 known frame_shift_del c.96 p.K34fs 0.795 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CROT HGNC ENSG00000005469 68 0 0 48 22 31.4286 RBM48 0 genome.wustl.edu 37 7 92161811 92161811 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 92161811 92161811 A - DEL RBM48 ENST00000265732 human ensembl 74_37 +1 known frame_shift_del c.396 p.K134fs 1.000 NULL NULL - no_errors RBM48 HGNC ENSG00000127993 136 0 0 76 34 30.9091 HEPACAM2 0 genome.wustl.edu 37 7 92844875 92844875 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 92844875 92844875 T - DEL HEPACAM2 ENST00000394468 human ensembl 74_37 -1 known frame_shift_del c.554 p.N185fs 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM2 HGNC ENSG00000188175 131 0 0 65 36 35.6436 CASD1 0 genome.wustl.edu 37 7 94174999 94174999 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 94174999 94174999 A - DEL CASD1 ENST00000297273 human ensembl 74_37 +1 known frame_shift_del c.1619 p.A543fs 1.000 pfam_Cas1_AcylTrans_dom pfam_Cas1_AcylTrans_dom,superfamily_Cyclin-like - no_errors CASD1 HGNC ENSG00000127995 38 0 0 21 15 41.6667 TECPR1 0 genome.wustl.edu 37 7 97862826 97862827 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 7 97862826 97862827 - A INS TECPR1 ENST00000379795 human ensembl 74_37 -1 known frame_shift_ins c.1579_1578 p.G526fs 0.230:0.090 NULL pfam_Beta-propeller_rpt_TECPR,superfamily_RCC1/BLIP-II,smart_Beta-propeller_rpt_TECPR,smart_Peroxin/Ferlin - no_errors TECPR1 HGNC ENSG00000205356 19 0 0 4 4 50 FBXO43 0 genome.wustl.edu 37 8 101154105 101154105 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 101154105 101154105 T - DEL FBXO43 ENST00000428847 human ensembl 74_37 -1 known frame_shift_del c.377 p.K126fs 0.005 NULL pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 206 0 0 174 10 5.43478 LONRF1 0 genome.wustl.edu 37 8 12589276 12589276 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 12589276 12589276 T - DEL LONRF1 ENST00000398246 human ensembl 74_37 -1 known frame_shift_del c.1657 p.I553fs 1.000 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF1 HGNC ENSG00000154359 50 0 0 45 6 11.7647 DLC1 0 genome.wustl.edu 37 8 12957359 12957359 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 12957359 12957359 G - DEL DLC1 ENST00000276297 human ensembl 74_37 -1 known frame_shift_del c.2487 p.S830fs 0.000 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 235 0 0 120 18 13.0435 ZC3H3 0 genome.wustl.edu 37 8 144621235 144621235 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 144621235 144621235 C - DEL ZC3H3 ENST00000262577 human ensembl 74_37 -1 known frame_shift_del c.302 p.G101fs 0.073 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H3 HGNC ENSG00000014164 259 0 0 92 37 28.6822 SPATC1 0 genome.wustl.edu 37 8 145095783 145095784 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145095783 145095784 - C INS SPATC1 ENST00000377470 human ensembl 74_37 +1 known frame_shift_ins c.1081_1082 p.H363fs 0.001:0.001 NULL NULL - no_errors SPATC1 HGNC ENSG00000186583 85 0 0 31 10 24.3902 OPLAH 0 genome.wustl.edu 37 8 145109541 145109542 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145109541 145109542 - G INS OPLAH ENST00000426825 human ensembl 74_37 -1 known frame_shift_ins c.2609_2608 p.H870fs 1.000:1.000 pfam_Hydantoinase_B pfam_Hydantoinase_B,pfam_Hydantoinase_A,pfam_Hydant_A_N - no_errors OPLAH HGNC ENSG00000178814 101 0 0 41 7 14.5833 KIFC2 0 genome.wustl.edu 37 8 145692659 145692659 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 145692659 145692659 G - DEL KIFC2 ENST00000301332 human ensembl 74_37 +1 known frame_shift_del c.404 p.R137fs 0.026 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIFC2 HGNC ENSG00000167702 234 0 0 110 40 26.6667 SLC7A2 0 genome.wustl.edu 37 8 17412535 17412538 + Frame_Shift_Del DEL GAGT GAGT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GAGT GAGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 17412535 17412538 GAGT - DEL SLC7A2 ENST00000398090 human ensembl 74_37 +1 known frame_shift_del c.1256_1259 p.S421fs 1.000:1.000:1.000:1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease pfam_AA-permease/SLC12A_dom,tigrfam_Cat_AA_permease - no_errors SLC7A2 HGNC ENSG00000003989 219 0 0 146 38 20.6522 PSD3 0 genome.wustl.edu 37 8 18490296 18490296 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 18490296 18490296 T - DEL PSD3 ENST00000440756 human ensembl 74_37 -1 known frame_shift_del c.2243 p.K748fs 1.000 NULL pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom - no_errors PSD3 HGNC ENSG00000156011 57 0 0 51 16 23.8806 BMP1 0 genome.wustl.edu 37 8 22067038 22067038 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 22067038 22067038 G - DEL BMP1 ENST00000306385 human ensembl 74_37 +1 known frame_shift_del c.2656 p.G887fs 0.884 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom 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 BMP1 HGNC ENSG00000168487 378 0 0 187 44 19.0476 PIWIL2 0 genome.wustl.edu 37 8 22175773 22175773 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 22175773 22175773 A - DEL PIWIL2 ENST00000356766 human ensembl 74_37 +1 known frame_shift_del c.2388 p.K798fs 0.999 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL2 HGNC ENSG00000197181 184 0 0 69 9 11.5385 ADAMDEC1 0 genome.wustl.edu 37 8 24257686 24257686 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 28 0 0 23 16 41.0256 FZD3 0 genome.wustl.edu 37 8 28385158 28385159 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 28385158 28385159 - T INS FZD3 ENST00000240093 human ensembl 74_37 +1 known frame_shift_ins c.881_882 p.T297fs 1.000:1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD3 HGNC ENSG00000104290 119 0 0 131 36 21.5569 GOT1L1 0 genome.wustl.edu 37 8 37791834 37791834 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 37791834 37791834 T - DEL GOT1L1 ENST00000307599 human ensembl 74_37 -1 known frame_shift_del c.1243 p.T415fs 0.000 NULL pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase,prints_Asp_trans - no_errors GOT1L1 HGNC ENSG00000169154 196 0 0 119 38 24.2038 WHSC1L1 0 genome.wustl.edu 37 8 38187221 38187222 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 38187221 38187222 - T INS WHSC1L1 ENST00000317025 human ensembl 74_37 -1 known frame_shift_ins c.1256_1255 p.T419fs 0.993:0.976 NULL pfam_PWWP_dom,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP_dom,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger - no_errors WHSC1L1 HGNC ENSG00000147548 119 0 0 118 36 23.3766 CHRNB3 0 genome.wustl.edu 37 8 42587570 42587571 + Frame_Shift_Ins INS - - A TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 42587570 42587571 - A INS CHRNB3 ENST00000289957 human ensembl 74_37 +1 known frame_shift_ins c.1120_1121 p.K377fs 0.007:0.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 91 0 0 85 23 21.2963 SPIDR 0 genome.wustl.edu 37 8 48511719 48511720 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 48511719 48511720 - G INS SPIDR ENST00000297423 human ensembl 74_37 +1 known frame_shift_ins c.1505_1506 p.A504fs 0.530:0.072 NULL NULL - no_errors SPIDR HGNC ENSG00000164808 32 0 0 21 8 27.5862 ANGPT2 0 genome.wustl.edu 37 8 6378798 6378798 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 6378798 6378798 T - DEL ANGPT2 ENST00000325203 human ensembl 74_37 -1 known frame_shift_del c.700 p.I234fs 0.004 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT2 HGNC ENSG00000091879 108 0 0 116 24 17.1429 ARFGEF1 0 genome.wustl.edu 37 8 68128855 68128856 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 68128855 68128856 - G INS ARFGEF1 ENST00000262215 human ensembl 74_37 -1 known frame_shift_ins c.4656_4655 p.P1553fs 0.000:0.000 NULL pfam_Sec7_dom,pfam_DUF1981_Sec7_assoc,superfamily_Sec7_dom,superfamily_ARM-type_fold,smart_Sec7_dom,pfscan_Sec7_dom - no_errors ARFGEF1 HGNC ENSG00000066777 125 0 0 100 11 9.90991 E2F5 0 genome.wustl.edu 37 8 86127123 86127123 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 86127123 86127123 A - DEL E2F5 ENST00000519128 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors E2F5 HGNC ENSG00000133740 13 0 0 18 6 25 CA2 0 genome.wustl.edu 37 8 86386635 86386635 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 86386635 86386635 T - DEL CA2 ENST00000285379 human ensembl 74_37 +1 known frame_shift_del c.434 p.L147fs 0.362 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA2 HGNC ENSG00000104267 250 0 0 169 43 20.283 TMEM67 0 genome.wustl.edu 37 8 94828723 94828723 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 94828723 94828723 A - DEL TMEM67 ENST00000463467 human ensembl 74_37 +1 putative rna NULL NULL 0.614 - - - no_errors TMEM67 HGNC ENSG00000164953 43 0 0 31 29 48.3333 PLEKHF2 0 genome.wustl.edu 37 8 96167002 96167004 + In_Frame_Del DEL GAT GAT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 8 96167002 96167004 GAT - DEL PLEKHF2 ENST00000315367 human ensembl 74_37 +1 known in_frame_del c.730_732 p.D246in_frame_del 1.000:1.000:0.994 NULL 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 PLEKHF2 HGNC ENSG00000175895 161 0 0 126 11 8.0292 INVS 0 genome.wustl.edu 37 9 103055250 103055251 + Frame_Shift_Del DEL AG AG - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 103055250 103055251 AG - DEL INVS ENST00000262457 human ensembl 74_37 +1 known frame_shift_del c.2711_2712 p.E906fs 1.000:0.996 superfamily_P-loop_NTPase pfam_Ankyrin_rpt,pfam_IQ_motif_EF-hand-BS,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_IQ_motif_EF-hand-BS,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Ankyrin_rpt - no_errors INVS HGNC ENSG00000119509 125 0 0 41 26 38.806 SMC2 0 genome.wustl.edu 37 9 106885501 106885501 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 106885501 106885501 A - DEL SMC2 ENST00000286398 human ensembl 74_37 +1 known frame_shift_del c.2245 p.T751fs 0.998 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 112 0 0 43 18 29.5082 IKBKAP 0 genome.wustl.edu 37 9 111668653 111668653 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 111668653 111668653 G - DEL IKBKAP ENST00000374647 human ensembl 74_37 -1 known frame_shift_del c.1573 p.R525fs 0.088 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 153 0 0 50 22 30.5556 PALM2-AKAP2 0 genome.wustl.edu 37 9 112900483 112900483 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 112900483 112900483 C - DEL PALM2-AKAP2 ENST00000374530 human ensembl 74_37 +1 known frame_shift_del c.2659 p.Q889fs 0.001 NULL pfam_Paralemmin,pfam_RII_binding_1 - no_errors PALM2-AKAP2 HGNC ENSG00000157654 58 0 0 18 11 37.931 KIAA0368 0 genome.wustl.edu 37 9 114131416 114131416 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 114131416 114131416 T - DEL KIAA0368 ENST00000259335 human ensembl 74_37 -1 known frame_shift_del c.5546 p.N1849fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 55 0 0 43 13 23.2143 FKBP15 0 genome.wustl.edu 37 9 115941001 115941002 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 115941001 115941002 - T INS FKBP15 ENST00000238256 human ensembl 74_37 -1 known frame_shift_ins c.1995_1994 p.E666fs 0.985:1.000 superfamily_Regulat_G_prot_signal_superfam pfam_PPIase_FKBP_dom,superfamily_Regulat_G_prot_signal_superfam,pfscan_PPIase_FKBP_dom - no_errors FKBP15 HGNC ENSG00000119321 25 0 0 13 7 35 CDK5RAP2 0 genome.wustl.edu 37 9 123223027 123223027 + Splice_Site DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 123223027 123223027 T - DEL CDK5RAP2 ENST00000480112 human ensembl 74_37 -1 known splice_site_del c.2104-2 e19-2 0.979 - - - no_errors CDK5RAP2 HGNC ENSG00000136861 15 0 0 24 6 20 DAB2IP 0 genome.wustl.edu 37 9 124536637 124536637 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 124536637 124536637 C - DEL DAB2IP ENST00000408936 human ensembl 74_37 +1 known frame_shift_del c.3066 p.H1025fs 0.988 pfam_DUF3498 pfam_DUF3498,pfam_RasGAP,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_Pleckstrin_homology,pfscan_RasGAP - no_errors DAB2IP HGNC ENSG00000136848 71 0 0 12 3 20 RABGAP1 0 genome.wustl.edu 37 9 125861042 125861042 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 125861042 125861042 A - DEL RABGAP1 ENST00000373647 human ensembl 74_37 +1 known frame_shift_del c.2782 p.N930fs 1.000 NULL pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,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 RABGAP1 HGNC ENSG00000011454 148 0 0 38 21 35.5932 LAMC3 0 genome.wustl.edu 37 9 133932467 133932467 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 133932467 133932467 G - DEL LAMC3 ENST00000361069 human ensembl 74_37 +1 known frame_shift_del c.2091 p.G699fs 0.003 smart_EGF_laminin 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 321 0 0 95 27 22.1311 TTF1 0 genome.wustl.edu 37 9 135277201 135277202 + Frame_Shift_Ins INS - - T TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 135277201 135277202 - T INS TTF1 ENST00000334270 human ensembl 74_37 -1 known frame_shift_ins c.1008_1007 p.K337fs 0.902:0.912 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 250 0 0 118 44 27.1605 GTF3C4 0 genome.wustl.edu 37 9 135554691 135554691 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 135554691 135554691 A - DEL GTF3C4 ENST00000372146 human ensembl 74_37 +1 known frame_shift_del c.1685 p.K564fs 1.000 NULL superfamily_WD40_repeat_dom - no_errors GTF3C4 HGNC ENSG00000125484 244 0 0 103 52 33.5484 RALGDS 0 genome.wustl.edu 37 9 135975666 135975667 + Frame_Shift_Del DEL GA GA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 135975666 135975667 GA - DEL RALGDS ENST00000542690 human ensembl 74_37 -1 known frame_shift_del c.2771_2770 p.S924fs 1.000:1.000 pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RALGDS HGNC ENSG00000160271 721 0 0 194 55 22.0884 ABCA2 0 genome.wustl.edu 37 9 139923312 139923312 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 139923312 139923312 T - DEL ABCA2 ENST00000459850 human ensembl 74_37 -1 known frame_shift_del c.13 p.T5fs 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 70 0 0 17 7 29.1667 CNTLN 0 genome.wustl.edu 37 9 17135271 17135271 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 17135271 17135271 G - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.208 p.A72fs 0.002 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 31 0 0 7 3 30 MLLT3 0 genome.wustl.edu 37 9 20622295 20622295 + RNA DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 20622295 20622295 C - DEL MLLT3 ENST00000475957 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MLLT3 HGNC ENSG00000171843 36 0 0 15 2 11.7647 FOCAD 0 genome.wustl.edu 37 9 20862797 20862798 + RNA INS - - TGT TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 20862797 20862798 - TGT INS FOCAD ENST00000603844 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.008 - - - no_errors FOCAD HGNC ENSG00000188352 34 0 0 24 12 33.3333 DDX58 0 genome.wustl.edu 37 9 32459462 32459462 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 32459462 32459462 T - DEL DDX58 ENST00000379883 human ensembl 74_37 -1 known frame_shift_del c.2388 p.K796fs 0.022 superfamily_P-loop_NTPase pfam_RIG-I_C-RD,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_DEATH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX58 HGNC ENSG00000107201 59 0 0 39 23 37.0968 DCTN3 0 genome.wustl.edu 37 9 34615897 34615898 + RNA DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 34615897 34615898 AA - DEL DCTN3 ENST00000479399 human ensembl 74_37 -1 known rna NULL NULL 0.008:0.011 - - - no_errors DCTN3 HGNC ENSG00000137100 14 0 0 7 6 46.1538 ARHGEF39 0 genome.wustl.edu 37 9 35661988 35661988 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 35661988 35661988 T - DEL ARHGEF39 ENST00000378387 human ensembl 74_37 -1 known frame_shift_del c.1004 p.N335fs 0.905 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF39 HGNC ENSG00000137135 120 0 0 112 8 6.66667 GLIPR2 0 genome.wustl.edu 37 9 36147846 36147847 + Frame_Shift_Ins INS - - C TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 36147846 36147847 - C INS GLIPR2 ENST00000377960 human ensembl 74_37 +1 known frame_shift_ins c.77_78 p.L29fs 0.856:0.893 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR2 HGNC ENSG00000122694 624 0 0 188 72 27.6923 ZCCHC7 0 genome.wustl.edu 37 9 37126641 37126642 + Frame_Shift_Ins INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 37126641 37126642 - G INS ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known frame_shift_ins c.312_313 p.N106fs 0.999:0.996 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 331 0 0 147 87 37.1795 DOCK8 0 genome.wustl.edu 37 9 405015 405015 + Frame_Shift_Del DEL T T - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 405015 405015 T - DEL DOCK8 ENST00000453981 human ensembl 74_37 +1 known frame_shift_del c.3332 p.F1113fs 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 76 0 0 47 24 33.8028 KDM4C 0 genome.wustl.edu 37 9 7169999 7169999 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 7169999 7169999 A - DEL KDM4C ENST00000381306 human ensembl 74_37 +1 known frame_shift_del c.3103 p.S1037fs 0.000 NULL pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4C HGNC ENSG00000107077 11 0 0 14 5 26.3158 SMC5 0 genome.wustl.edu 37 9 72959271 72959271 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 72959271 72959271 A - DEL SMC5 ENST00000475540 human ensembl 74_37 +1 known rna NULL NULL 0.009 - - - no_errors SMC5 HGNC ENSG00000198887 17 0 0 7 4 36.3636 KANK1 0 genome.wustl.edu 37 9 734666 734666 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 9 734666 734666 A - DEL KANK1 ENST00000489369 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors KANK1 HGNC ENSG00000107104 20 0 0 15 4 21.0526 PHF2 0 genome.wustl.edu 37 9 96422612 96422612 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f 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 21 0 0 15 3 16.6667 GPC4 0 genome.wustl.edu 37 X 132439923 132439923 + Frame_Shift_Del DEL G G - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 132439923 132439923 G - DEL GPC4 ENST00000370828 human ensembl 74_37 -1 known frame_shift_del c.1032 p.K345fs 0.073 pfam_Glypican pfam_Glypican - no_errors GPC4 HGNC ENSG00000076716 651 0 0 226 82 26.6234 SLC6A8 0 genome.wustl.edu 37 X 152958488 152958488 + RNA DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 152958488 152958488 C - DEL SLC6A8 ENST00000485324 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC6A8 HGNC ENSG00000130821 116 0 0 21 9 30 PDZD4 0 genome.wustl.edu 37 X 153095870 153095871 + RNA INS - - G TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 153095870 153095871 - G INS PDZD4 ENST00000480418 human ensembl 74_37 -1 known rna NULL NULL 0.296:0.311 - - - no_errors PDZD4 HGNC ENSG00000067840 57 0 0 14 4 22.2222 MAGEB3 0 genome.wustl.edu 37 X 30254466 30254466 + Frame_Shift_Del DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 30254466 30254466 A - DEL MAGEB3 ENST00000361644 human ensembl 74_37 +1 known frame_shift_del c.425 p.S144fs 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB3 HGNC ENSG00000198798 164 0 0 86 31 26.4957 MAGEB4 0 genome.wustl.edu 37 X 30260427 30260427 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 30260427 30260427 C - DEL MAGEB4 ENST00000378982 human ensembl 74_37 +1 known frame_shift_del c.175 p.Q60fs 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB4 HGNC ENSG00000120289 83 0 0 31 13 29.5455 DMD 0 genome.wustl.edu 37 X 33229458 33229458 + RNA DEL A A - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 33229458 33229458 A - DEL DMD ENST00000463609 human ensembl 74_37 -1 known rna NULL NULL 0.032 - - - no_errors DMD HGNC ENSG00000198947 37 0 0 18 8 30.7692 MED14 0 genome.wustl.edu 37 X 40588606 40588607 + RNA DEL AA AA - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 40588606 40588607 AA - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors MED14 HGNC ENSG00000180182 77 0 0 29 12 29.2683 USP9X 0 genome.wustl.edu 37 X 41060495 41060497 + In_Frame_Del DEL GAT GAT - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 GAT GAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 41060495 41060497 GAT - DEL USP9X ENST00000324545 human ensembl 74_37 +1 known in_frame_del c.4786_4788 p.D1598in_frame_del 1.000:1.000:1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP9X HGNC ENSG00000124486 157 0 0 73 34 31.7757 CCNB3 0 genome.wustl.edu 37 X 50028182 50028182 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 50028182 50028182 C - DEL CCNB3 ENST00000276014 human ensembl 74_37 +1 known frame_shift_del c.19 p.Q8fs 0.000 NULL pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNB3 HGNC ENSG00000147082 89 0 0 58 21 26.5823 ZMYM3 0 genome.wustl.edu 37 X 70472854 70472854 + Frame_Shift_Del DEL C C - TCGA-BR-8368-01A-11D-2340-08 TCGA-BR-8368-10A-01D-2341-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 165fd192-39c7-4c1d-8313-eb7fb6b129fa 3150c947-69a6-4b74-9fbd-fabef76e9a5f X 70472854 70472854 C - DEL ZMYM3 ENST00000373988 human ensembl 74_37 -1 known frame_shift_del c.252 p.L85fs 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH_dom - no_errors ZMYM3 HGNC ENSG00000147130 112 0 0 19 21 52.5