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 AMY2A 0 genome.wustl.edu 37 1 104160603 104160603 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 104160603 104160603 A G SNP AMY2A ENST00000414303 human ensembl 74_37 +1 known missense c.196 p.I66V 0.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_Glyco_hydro_13_cat_dom,pfam_A-amylase_b_C,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom,smart_A-amylase_b_C,prints_Alpha_amylase - no_errors AMY2A HGNC ENSG00000243480 64 0 0 44 79 64.2276 SEC22B 0 genome.wustl.edu 37 1 145112423 145112423 + RNA SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 145112423 145112423 A C SNP SEC22B ENST00000453618 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEC22B HGNC ENSG00000223380 70 0 0 77 8 9.41176 HRNR 0 genome.wustl.edu 37 1 152191301 152191301 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 152191301 152191301 T C SNP HRNR ENST00000368801 human ensembl 74_37 -1 known missense c.2804 p.K935R 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 467 0 0 406 83 16.9734 FLG 0 genome.wustl.edu 37 1 152279828 152279828 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 152279828 152279828 T G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.7534 p.S2512R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 532 0 0 535 98 15.4818 LCE1A 0 genome.wustl.edu 37 1 152800031 152800031 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 152800031 152800031 A G SNP LCE1A ENST00000335123 human ensembl 74_37 +1 known missense c.83 p.K28R 0.171 NULL NULL - no_errors LCE1A HGNC ENSG00000186844 134 0 0 151 21 12.2093 IVL 0 genome.wustl.edu 37 1 152883259 152883259 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 152883259 152883259 A G SNP IVL ENST00000368764 human ensembl 74_37 +1 known missense c.986 p.Q329R 0.001 pfam_Involucrin_rpt pfam_Involucrin_N,pfam_Involucrin_rpt - no_errors IVL HGNC ENSG00000163207 10 0 0 8 4 33.3333 CD1E 0 genome.wustl.edu 37 1 158324361 158324361 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 158324361 158324361 T G SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.253 p.F85V 0.879 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 62 0 0 51 11 17.7419 CACNA1E 0 genome.wustl.edu 37 1 181620513 181620513 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 181620513 181620513 T G SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known missense c.991 p.F331V 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 88 0 0 51 32 38.5542 LMOD1 0 genome.wustl.edu 37 1 201868803 201868803 + Silent SNP G G T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 201868803 201868803 G T SNP LMOD1 ENST00000367288 human ensembl 74_37 -1 known silent c.1338 p.T446 0.645 NULL pfam_Tropomodulin,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors LMOD1 HGNC ENSG00000163431 27 0 0 27 4 12.9032 OR2T29 0 genome.wustl.edu 37 1 248722752 248722752 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 248722752 248722752 A G SNP OR2T29 ENST00000328570 human ensembl 74_37 -1 known missense c.41 p.L14S 0.000 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T29 HGNC ENSG00000182783 48 0 0 40 5 11.1111 SLC6A9 0 genome.wustl.edu 37 1 44467169 44467169 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 44467169 44467169 C A SNP SLC6A9 ENST00000360584 human ensembl 74_37 -1 known missense c.1312 p.G438C 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_glycine_GLY1 - no_errors SLC6A9 HGNC ENSG00000196517 157 0 0 274 15 5.19031 NPHP4 0 genome.wustl.edu 37 1 5951034 5951034 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 1 5951034 5951034 C T SNP NPHP4 ENST00000378156 human ensembl 74_37 -1 known missense c.2198 p.G733D 1.000 NULL NULL - no_errors NPHP4 HGNC ENSG00000131697 17 0 0 4 15 78.9474 WDR96 0 genome.wustl.edu 37 10 105967573 105967573 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 105967573 105967573 C T SNP WDR96 ENST00000357060 human ensembl 74_37 -1 known missense c.745 p.D249N 0.141 superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu - no_errors WDR96 HGNC ENSG00000197748 75 0 0 48 19 28.3582 SORCS3 0 genome.wustl.edu 37 10 106974370 106974370 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 106974370 106974370 A C SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known missense c.2546 p.E849A 1.000 pfam_PKD_dom,superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 41 0 0 24 11 31.4286 ADRA2A 0 genome.wustl.edu 37 10 112838845 112838845 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 112838845 112838845 C T SNP ADRA2A ENST00000280155 human ensembl 74_37 +1 known missense c.1091 p.P364L 0.044 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA2A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam,prints_Musac_Ach_rcpt - no_errors ADRA2A HGNC ENSG00000150594 24 0 0 11 10 47.619 DMBT1 0 genome.wustl.edu 37 10 124377558 124377558 + Silent SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 124377558 124377558 A G SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known silent c.4530 p.R1510 0.915 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 519 1 0.192308 351 61 14.8058 ADAM12 0 genome.wustl.edu 37 10 127797193 127797193 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 127797193 127797193 C T SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.719 p.R240Q 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 61 0 0 24 7 22.5806 ARHGAP12 0 genome.wustl.edu 37 10 32197485 32197485 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 32197485 32197485 A G SNP ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known missense c.299 p.L100P 0.994 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 56 0 0 66 24 26.6667 DDX21 0 genome.wustl.edu 37 10 70733310 70733310 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 70733310 70733310 T G SNP DDX21 ENST00000354185 human ensembl 74_37 +1 known missense c.1558 p.S520A 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,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 DDX21 HGNC ENSG00000165732 48 0 0 43 7 14 TRPC6 0 genome.wustl.edu 37 11 101375029 101375029 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 101375029 101375029 A C SNP TRPC6 ENST00000344327 human ensembl 74_37 -1 known missense c.671 p.I224S 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC6_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC6 HGNC ENSG00000137672 99 0 0 83 19 18.6275 MRVI1 0 genome.wustl.edu 37 11 10651144 10651144 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 10651144 10651144 T C SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.488 p.E163G 1.000 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 38 0 0 25 10 28.5714 MUC2 0 genome.wustl.edu 37 11 1092910 1092910 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 1092910 1092910 G A SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known missense c.4729 p.G1577S 0.048 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 19 0 0 10 4 28.5714 OR10G7 0 genome.wustl.edu 37 11 123908974 123908974 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 123908974 123908974 G A SNP OR10G7 ENST00000330487 human ensembl 74_37 -1 known silent c.735 p.I245 0.095 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G7 HGNC ENSG00000182634 93 0 0 43 46 51.6854 LRP4-AS1 0 genome.wustl.edu 37 11 46895281 46895281 + RNA SNP T T A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 46895281 46895281 T A SNP LRP4-AS1 ENST00000502049 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors LRP4-AS1 HGNC ENSG00000247675 8 0 0 6 7 53.8462 FOLH1 0 genome.wustl.edu 37 11 49208305 49208305 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 49208305 49208305 A C SNP FOLH1 ENST00000256999 human ensembl 74_37 -1 known missense c.530 p.V177G 1.000 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Protease-assoc_domain,pfam_Peptidase_M28,superfamily_TFR-like_dimer_dom - no_errors FOLH1 HGNC ENSG00000086205 68 0 0 63 13 17.1053 OR52E2 0 genome.wustl.edu 37 11 5080572 5080572 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 5080572 5080572 A C SNP OR52E2 ENST00000321522 human ensembl 74_37 -1 known missense c.286 p.F96V 0.112 pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E2 HGNC ENSG00000176787 28 0 0 23 4 14.8148 OR52A5 0 genome.wustl.edu 37 11 5153615 5153615 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 5153615 5153615 G A SNP OR52A5 ENST00000307388 human ensembl 74_37 -1 known silent c.258 p.I86 0.011 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 OR52A5 HGNC ENSG00000171944 65 0 0 39 13 25 OR51B6 0 genome.wustl.edu 37 11 5372892 5372892 + Missense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 5372892 5372892 A T SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known missense c.155 p.N52I 0.006 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt - no_errors OR51B6 HGNC ENSG00000176239 59 0 0 33 25 43.1034 OR5T2 0 genome.wustl.edu 37 11 56000483 56000483 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 56000483 56000483 A C SNP OR5T2 ENST00000313264 human ensembl 74_37 -1 known missense c.179 p.L60R 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T2 HGNC ENSG00000181718 54 0 0 38 17 30.9091 FAM111A 0 genome.wustl.edu 37 11 58919526 58919526 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 58919526 58919526 C T SNP FAM111A ENST00000361723 human ensembl 74_37 +1 known missense c.385 p.R129C 0.000 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom - no_errors FAM111A HGNC ENSG00000166801 80 0 0 66 12 15.3846 OR5A1 0 genome.wustl.edu 37 11 59210757 59210757 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 59210757 59210757 T C SNP OR5A1 ENST00000302030 human ensembl 74_37 +1 known missense c.116 p.L39P 0.006 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR5A1 HGNC ENSG00000172320 125 0 0 87 47 35.0746 VPS51 0 genome.wustl.edu 37 11 64875883 64875883 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 64875883 64875883 G A SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.940 p.G314S 1.000 superfamily_Cullin_repeat-like_dom pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 42 0 0 35 15 30 PDE2A 0 genome.wustl.edu 37 11 72292506 72292506 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 72292506 72292506 T G SNP PDE2A ENST00000334456 human ensembl 74_37 -1 known missense c.1940 p.K647T 1.000 NULL pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE2A HGNC ENSG00000186642 23 0 0 9 8 47.0588 P4HA3 0 genome.wustl.edu 37 11 73979244 73979244 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 73979244 73979244 C T SNP P4HA3 ENST00000331597 human ensembl 74_37 -1 known missense c.1510 p.G504R 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Pro_4_hyd_alph_N,pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HA3 HGNC ENSG00000149380 253 0 0 203 22 9.77778 OR10A3 0 genome.wustl.edu 37 11 7960800 7960800 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 11 7960800 7960800 T G SNP OR10A3 ENST00000360759 human ensembl 74_37 -1 known missense c.268 p.T90P 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A3 HGNC ENSG00000170683 138 0 0 82 42 33.871 CLEC1A 0 genome.wustl.edu 37 12 10228175 10228175 + Silent SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 10228175 10228175 A G SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known silent c.471 p.S157 0.576 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 CLEC1A HGNC ENSG00000150048 64 0 0 54 8 12.9032 CLEC1A 0 genome.wustl.edu 37 12 10233966 10233966 + Silent SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 10233966 10233966 A G SNP CLEC1A ENST00000315330 human ensembl 74_37 -1 known silent c.261 p.S87 0.011 NULL pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC1A HGNC ENSG00000150048 64 0 0 45 30 40 TBX5 0 genome.wustl.edu 37 12 114823305 114823305 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 114823305 114823305 A G SNP TBX5 ENST00000310346 human ensembl 74_37 -1 known missense c.731 p.L244P 0.998 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX5 HGNC ENSG00000089225 55 0 0 51 15 22.7273 SRRM4 0 genome.wustl.edu 37 12 119594441 119594441 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 119594441 119594441 C A SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known missense c.1674 p.S558R 0.999 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 25 0 0 12 9 42.8571 MMP17 0 genome.wustl.edu 37 12 132325197 132325197 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 132325197 132325197 A G SNP MMP17 ENST00000360564 human ensembl 74_37 +1 known missense c.502 p.S168G 0.998 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP17 HGNC ENSG00000198598 144 0 0 194 19 8.92019 PDE3A 0 genome.wustl.edu 37 12 20833005 20833005 + Missense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 20833005 20833005 A T SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known missense c.3226 p.T1076S 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 125 0 0 91 27 22.8814 DENND5B 0 genome.wustl.edu 37 12 31555507 31555507 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 31555507 31555507 C A SNP DENND5B ENST00000306833 human ensembl 74_37 -1 known missense c.2979 p.W993C 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pfscan_PLAT/LH2_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 122 0 0 77 26 25.2427 EFCAB4B 0 genome.wustl.edu 37 12 3768756 3768756 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 3768756 3768756 T C SNP EFCAB4B ENST00000440314 human ensembl 74_37 -1 known missense c.736 p.S246G 0.690 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_EF_hand_dom,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors EFCAB4B HGNC ENSG00000130038 47 0 0 20 18 47.3684 LRRK2 0 genome.wustl.edu 37 12 40651103 40651103 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 40651103 40651103 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.1342 p.L448V 0.463 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 61 0 0 41 10 19.6078 CLEC4D 0 genome.wustl.edu 37 12 8672825 8672825 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 12 8672825 8672825 T G SNP CLEC4D ENST00000299665 human ensembl 74_37 +1 known missense c.388 p.F130V 0.950 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC4D HGNC ENSG00000166527 65 0 0 32 25 43.8596 COL4A1 0 genome.wustl.edu 37 13 110827648 110827648 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 13 110827648 110827648 A C SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.3115 p.L1039V 0.006 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 72 0 0 51 23 31.0811 CCDC169-SOHLH2 0 genome.wustl.edu 37 13 36776025 36776025 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 13 36776025 36776025 T C SNP CCDC169-SOHLH2 ENST00000511166 human ensembl 74_37 -1 known missense c.485 p.K162R 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors CCDC169-SOHLH2 HGNC ENSG00000250709 58 0 0 43 17 28.3333 POSTN 0 genome.wustl.edu 37 13 38156507 38156507 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 13 38156507 38156507 C T SNP POSTN ENST00000379747 human ensembl 74_37 -1 known missense c.1388 p.R463H 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 87 0 0 53 34 39.0805 TRPC4 0 genome.wustl.edu 37 13 38211441 38211441 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 13 38211441 38211441 A G SNP TRPC4 ENST00000379681 human ensembl 74_37 -1 known missense c.2548 p.F850L 1.000 prints_TRPC4_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC4_channel,prints_TRPC_channel,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel - no_errors TRPC4 HGNC ENSG00000133107 54 0 0 31 18 36.7347 PCDH20 0 genome.wustl.edu 37 13 61986482 61986482 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 13 61986482 61986482 A C SNP PCDH20 ENST00000409186 human ensembl 74_37 -1 known missense c.1750 p.L584V 0.706 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH20 HGNC ENSG00000197991 71 0 0 63 20 24.0964 OR4N4 0 genome.wustl.edu 37 15 22383054 22383054 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 15 22383054 22383054 G A SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known silent c.582 p.V194 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 98 0 0 70 11 13.5802 C2CD4B 0 genome.wustl.edu 37 15 62457104 62457104 + Missense_Mutation SNP G G C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 15 62457104 62457104 G C SNP C2CD4B ENST00000380392 human ensembl 74_37 -1 known missense c.80 p.P27R 0.999 NULL superfamily_C2_dom - no_errors C2CD4B HGNC ENSG00000205502 10 0 0 2 4 66.6667 CSK 0 genome.wustl.edu 37 15 75093259 75093259 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 15 75093259 75093259 A G SNP CSK ENST00000220003 human ensembl 74_37 +1 known missense c.718 p.M240V 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors CSK HGNC ENSG00000103653 60 0 0 31 45 59.2105 SEMA4B 0 genome.wustl.edu 37 15 90770838 90770838 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 15 90770838 90770838 G A SNP SEMA4B ENST00000332496 human ensembl 74_37 +1 known missense c.1738 p.A580T 0.000 superfamily_Plexin-like_fold pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA4B HGNC ENSG00000185033 55 0 0 23 16 41.0256 SMG1 0 genome.wustl.edu 37 16 18937330 18937330 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 18937330 18937330 T C SNP SMG1 ENST00000389467 human ensembl 74_37 -1 known missense c.34 p.S12G 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 22 0 0 23 3 11.5385 DNAH3 0 genome.wustl.edu 37 16 21060984 21060984 + Missense_Mutation SNP G G T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 21060984 21060984 G T SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.4367 p.S1456Y 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 71 0 0 64 24 27.2727 GTF3C1 0 genome.wustl.edu 37 16 27473757 27473757 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 27473757 27473757 C A SNP GTF3C1 ENST00000356183 human ensembl 74_37 -1 known missense c.5975 p.G1992V 1.000 NULL pfam_TFIIIC_Bblock-bd - no_errors GTF3C1 HGNC ENSG00000077235 30 0 0 26 12 31.5789 KAT8 0 genome.wustl.edu 37 16 31129170 31129170 + Missense_Mutation SNP G G C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 31129170 31129170 G C SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.168 p.E56D 1.000 pfam_Tudor-knot,superfamily_Chromodomain-like pfam_MOZ_SAS,pfam_Tudor-knot,superfamily_Acyl_CoA_acyltransferase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow - no_errors KAT8 HGNC ENSG00000103510 14 0 0 4 3 42.8571 SLX4 0 genome.wustl.edu 37 16 3640167 3640167 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 3640167 3640167 C T SNP SLX4 ENST00000294008 human ensembl 74_37 -1 known missense c.3472 p.D1158N 0.984 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors SLX4 HGNC ENSG00000188827 109 0 0 123 13 9.55882 CES1 0 genome.wustl.edu 37 16 55862812 55862812 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 55862812 55862812 C T SNP CES1 ENST00000360526 human ensembl 74_37 -1 known missense c.127 p.G43R 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES1 HGNC ENSG00000198848 62 0 0 62 6 8.82353 VAT1L 0 genome.wustl.edu 37 16 77913091 77913091 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 77913091 77913091 G A SNP VAT1L ENST00000302536 human ensembl 74_37 +1 known silent c.852 p.E284 1.000 smart_PKS_ER pfam_ADH_GroES-like,pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER - no_errors VAT1L HGNC ENSG00000171724 85 0 0 54 23 29.8701 PLCG2 0 genome.wustl.edu 37 16 81922830 81922830 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 81922830 81922830 T G SNP PLCG2 ENST00000359376 human ensembl 74_37 +1 known missense c.819 p.I273M 0.677 pfam_PLipase_C_EF-hand-like,pirsf_PLC-gamma pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_SH3_domain,pfam_C2_dom,pfam_PLipase_C_EF-hand-like,pfam_SH3_2,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pirsf_PLC-gamma,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2,prints_SH3_domain - no_errors PLCG2 HGNC ENSG00000197943 16 0 0 6 6 50 SPIRE2 0 genome.wustl.edu 37 16 89916733 89916733 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 16 89916733 89916733 G A SNP SPIRE2 ENST00000378247 human ensembl 74_37 +1 known missense c.310 p.A104T 1.000 smart_KIND superfamily_Znf_FYVE_PHD,smart_KIND - no_errors SPIRE2 HGNC ENSG00000204991 23 0 0 12 11 47.8261 MYH13 0 genome.wustl.edu 37 17 10215932 10215932 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 10215932 10215932 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.4324 p.A1442T 0.987 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 MYH13 HGNC ENSG00000006788 27 0 0 5 8 61.5385 DNAH9 0 genome.wustl.edu 37 17 11687713 11687713 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 11687713 11687713 T G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.7918 p.F2640V 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 266 0 0 143 56 28.1407 TSR1 0 genome.wustl.edu 37 17 2235606 2235606 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 2235606 2235606 C T SNP TSR1 ENST00000301364 human ensembl 74_37 -1 known silent c.1353 p.G451 0.984 NULL pfam_BMS1_TSR1_C,pfam_AARP2CN,superfamily_Transl_B-barrel,smart_AARP2CN - no_errors TSR1 HGNC ENSG00000167721 97 0 0 59 11 15.7143 UTP6 0 genome.wustl.edu 37 17 30205307 30205307 + Missense_Mutation SNP C C G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 30205307 30205307 C G SNP UTP6 ENST00000261708 human ensembl 74_37 -1 known missense c.1087 p.E363Q 0.928 NULL pfam_U3_snoRNA_assoc-6,smart_HAT - no_errors UTP6 HGNC ENSG00000108651 81 0 0 23 46 66.6667 CDC27 0 genome.wustl.edu 37 17 45234397 45234397 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 45234397 45234397 G A SNP CDC27 ENST00000531206 human ensembl 74_37 -1 known missense c.724 p.P242S 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC27 HGNC ENSG00000004897 47 0 0 26 5 16.129 SDK2 0 genome.wustl.edu 37 17 71361524 71361524 + Silent SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 71361524 71361524 A G SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known silent c.5178 p.A1726 0.426 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 27 0 0 20 7 25.9259 TP53 0 genome.wustl.edu 37 17 7579414 7579414 + Nonsense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 7579414 7579414 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.273 p.W91* 1.000 NULL pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 138 1 0.719424 57 89 60.9589 DNAH17 0 genome.wustl.edu 37 17 76488800 76488800 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 17 76488800 76488800 C T SNP DNAH17 ENST00000389840 human ensembl 74_37 -1 known silent c.6414 p.P2138 0.043 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DNAH17 HGNC ENSG00000187775 29 0 0 17 9 34.6154 DLGAP1 0 genome.wustl.edu 37 18 3729300 3729300 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 18 3729300 3729300 C T SNP DLGAP1 ENST00000315677 human ensembl 74_37 -1 known missense c.1426 p.V476M 1.000 NULL pfam_GKAP - no_errors DLGAP1 HGNC ENSG00000170579 57 0 0 28 26 48.1481 SERPINB7 0 genome.wustl.edu 37 18 61465873 61465873 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 18 61465873 61465873 A G SNP SERPINB7 ENST00000336429 human ensembl 74_37 +1 known missense c.490 p.S164G 0.682 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB7 HGNC ENSG00000166396 63 0 0 29 38 56.7164 CTDP1 0 genome.wustl.edu 37 18 77475328 77475328 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 18 77475328 77475328 G A SNP CTDP1 ENST00000299543 human ensembl 74_37 +1 known missense c.1868 p.R623H 0.966 NULL pfam_FCP1_C,pfam_NIF,superfamily_HAD-like_dom,superfamily_BRCT_dom,superfamily_Single_hybrid_motif,smart_NIF,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_NIF,tigrfam_FCP1_euk - no_errors CTDP1 HGNC ENSG00000060069 21 0 0 16 3 15.7895 TMED1 0 genome.wustl.edu 37 19 10943724 10943724 + Nonsense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 10943724 10943724 G A SNP TMED1 ENST00000214869 human ensembl 74_37 -1 known nonsense c.631 p.Q211* 1.000 pfam_GOLD pfam_GOLD,superfamily_GOLD,pfscan_GOLD - no_errors TMED1 HGNC ENSG00000099203 99 0 0 39 30 43.4783 ZNF208 0 genome.wustl.edu 37 19 22170054 22170054 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 22170054 22170054 T G SNP ZNF208 ENST00000599916 human ensembl 74_37 -1 putative missense c.190 p.N64H 0.061 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF208 HGNC ENSG00000160321 63 0 0 37 9 19.5652 ZNF98 0 genome.wustl.edu 37 19 22586215 22586215 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 22586215 22586215 C T SNP ZNF98 ENST00000357774 human ensembl 74_37 -1 known missense c.130 p.E44K 0.165 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF98 HGNC ENSG00000197360 103 0 0 42 22 34.375 ZNF728 0 genome.wustl.edu 37 19 23158995 23158995 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 23158995 23158995 T G SNP ZNF728 ENST00000594710 human ensembl 74_37 -1 novel missense c.1144 p.S382R 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 ZNF728 HGNC ENSG00000269067 69 0 0 40 22 35.4839 PAFAH1B3 0 genome.wustl.edu 37 19 42801375 42801375 + Missense_Mutation SNP G G C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 42801375 42801375 G C SNP PAFAH1B3 ENST00000262890 human ensembl 74_37 -1 known missense c.551 p.T184S 1.000 NULL NULL - no_errors PAFAH1B3 HGNC ENSG00000079462 139 0 0 92 7 7.07071 ZNF229 0 genome.wustl.edu 37 19 44933946 44933946 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 44933946 44933946 C T SNP ZNF229 ENST00000588931 human ensembl 74_37 -1 known missense c.1010 p.R337H 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 ZNF229 HGNC ENSG00000167383 73 0 0 53 36 40.4494 SIGLEC6 0 genome.wustl.edu 37 19 52034441 52034441 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 52034441 52034441 A G SNP SIGLEC6 ENST00000425629 human ensembl 74_37 -1 known missense c.400 p.S134P 0.000 smart_Ig_sub pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC6 HGNC ENSG00000105492 170 0 0 211 19 8.26087 PTPRS 0 genome.wustl.edu 37 19 5221118 5221118 + Nonsense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 5221118 5221118 C T SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known nonsense c.3351 p.W1117* 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 147 0 0 94 18 16.0714 MIR519B 0 genome.wustl.edu 37 19 54198501 54198501 + RNA SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 54198501 54198501 T G SNP MIR519B ENST00000385090 human ensembl 74_37 +1 known rna NULL NULL 0.017 - - - no_errors MIR519B HGNC ENSG00000207825 119 0 0 117 34 22.5166 ZSCAN5A 0 genome.wustl.edu 37 19 56733565 56733565 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 56733565 56733565 G A SNP ZSCAN5A ENST00000391713 human ensembl 74_37 -1 known silent c.870 p.D290 0.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5A HGNC ENSG00000131848 139 0 0 281 18 6.02007 ZNF471 0 genome.wustl.edu 37 19 57027765 57027765 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 57027765 57027765 C T SNP ZNF471 ENST00000308031 human ensembl 74_37 +1 known missense c.155 p.S52L 0.128 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF471 HGNC ENSG00000196263 88 0 0 162 17 9.49721 ZNF416 0 genome.wustl.edu 37 19 58084403 58084403 + Missense_Mutation SNP C C G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 58084403 58084403 C G SNP ZNF416 ENST00000196489 human ensembl 74_37 -1 known missense c.869 p.R290T 0.108 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 ZNF416 HGNC ENSG00000083817 88 0 0 153 36 19.0476 ZNF446 0 genome.wustl.edu 37 19 58989171 58989171 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 58989171 58989171 C T SNP ZNF446 ENST00000594369 human ensembl 74_37 +1 known silent c.510 p.P170 0.045 NULL 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 33 0 0 65 7 9.72222 XAB2 0 genome.wustl.edu 37 19 7689226 7689226 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 7689226 7689226 T C SNP XAB2 ENST00000358368 human ensembl 74_37 -1 known missense c.928 p.K310E 0.902 NULL smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors XAB2 HGNC ENSG00000076924 131 0 0 78 22 22 NEB 0 genome.wustl.edu 37 2 152522764 152522764 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 152522764 152522764 T G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.4871 p.K1624T 0.997 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 173 0 0 128 27 17.4194 XIRP2 0 genome.wustl.edu 37 2 168103939 168103939 + Nonsense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 168103939 168103939 A T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known nonsense c.6037 p.R2013* 0.238 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 42 0 0 21 13 38.2353 TTN 0 genome.wustl.edu 37 2 179584017 179584017 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 179584017 179584017 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.20368 p.S6790R 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,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 186 0 0 150 27 15.2542 MYT1L 0 genome.wustl.edu 37 2 1893197 1893197 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 1893197 1893197 T G SNP MYT1L ENST00000399161 human ensembl 74_37 -1 known missense c.2336 p.K779T 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1L HGNC ENSG00000186487 88 0 0 63 20 24.0964 PAX3 0 genome.wustl.edu 37 2 223158949 223158949 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 223158949 223158949 T C SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.523 p.K175E 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 118 0 0 78 29 27.1028 AGFG1 0 genome.wustl.edu 37 2 228416831 228416831 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 228416831 228416831 A C SNP AGFG1 ENST00000409979 human ensembl 74_37 +1 known missense c.1607 p.N536T 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG1 HGNC ENSG00000173744 75 0 0 52 15 22.3881 LTBP1 0 genome.wustl.edu 37 2 33500954 33500954 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 33500954 33500954 A G SNP LTBP1 ENST00000354476 human ensembl 74_37 +1 known missense c.2959 p.S987G 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors LTBP1 HGNC ENSG00000049323 128 0 0 122 19 13.4752 SNRPG 0 genome.wustl.edu 37 2 70520772 70520772 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 70520772 70520772 C A SNP SNRPG ENST00000272348 human ensembl 74_37 -1 known missense c.10 p.A4S 1.000 NULL pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPG HGNC ENSG00000143977 143 0 0 123 16 11.5108 EIF2AK3 0 genome.wustl.edu 37 2 88888295 88888295 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 88888295 88888295 T G SNP EIF2AK3 ENST00000303236 human ensembl 74_37 -1 known missense c.1290 p.K430N 0.973 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Quinonprotein_ADH-like_supfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors EIF2AK3 HGNC ENSG00000172071 77 0 0 52 8 13.3333 BPIFB6 0 genome.wustl.edu 37 20 31623461 31623461 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 20 31623461 31623461 A C SNP BPIFB6 ENST00000349552 human ensembl 74_37 +1 known missense c.560 p.K187T 1.000 superfamily_Bactericidal_perm-incr_a/b_dom pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB6 HGNC ENSG00000167104 163 0 0 201 31 13.3621 PABPC1L 0 genome.wustl.edu 37 20 43552831 43552831 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 20 43552831 43552831 C T SNP PABPC1L ENST00000217073 human ensembl 74_37 +1 known silent c.906 p.D302 0.994 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1L HGNC ENSG00000101104 132 0 0 72 99 57.8947 SNX21 0 genome.wustl.edu 37 20 44469494 44469494 + Missense_Mutation SNP C C G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 20 44469494 44469494 C G SNP SNX21 ENST00000491381 human ensembl 74_37 +1 known missense c.664 p.H222D 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,pfam_TPR_1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 121 0 0 233 35 13.0597 PRND 0 genome.wustl.edu 37 20 4705530 4705530 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 20 4705530 4705530 C T SNP PRND ENST00000305817 human ensembl 74_37 +1 known silent c.333 p.A111 1.000 pfam_Prion/Doppel_prot_b-ribbon_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Doppel,superfamily_Prion/Doppel_prot_b-ribbon_dom - no_errors PRND HGNC ENSG00000171864 107 0 0 70 10 12.5 CASS4 0 genome.wustl.edu 37 20 55027331 55027331 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 20 55027331 55027331 G A SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.1099 p.E367K 0.000 NULL pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 91 0 0 103 21 16.9355 MYT1 0 genome.wustl.edu 37 20 62848549 62848549 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 20 62848549 62848549 C T SNP MYT1 ENST00000536311 human ensembl 74_37 +1 known silent c.1761 p.Y587 1.000 pfam_Myelin_TF pfam_Myelin_TF,pfam_Znf_C2HC - no_errors MYT1 HGNC ENSG00000196132 112 0 0 44 27 38.0282 ADAMTS1 0 genome.wustl.edu 37 21 28216851 28216851 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 21 28216851 28216851 G A SNP ADAMTS1 ENST00000284984 human ensembl 74_37 -1 known silent c.423 p.L141 1.000 pfam_Peptidase_M12B_N pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS1,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS1 HGNC ENSG00000154734 18 0 0 14 6 30 KRTAP13-1 0 genome.wustl.edu 37 21 31768881 31768881 + Silent SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 21 31768881 31768881 T G SNP KRTAP13-1 ENST00000355459 human ensembl 74_37 +1 known silent c.477 p.S159 0.001 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP13-1 HGNC ENSG00000198390 51 0 0 27 13 32.5 SUSD2 0 genome.wustl.edu 37 22 24582117 24582117 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 22 24582117 24582117 G A SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known silent c.1473 p.T491 0.000 pfam_VWF_type-D,smart_VWF_type-D 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 42 0 0 17 10 37.037 ENSG00000231933 0 genome.wustl.edu 37 22 26291074 26291074 + RNA SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 22 26291074 26291074 T G SNP ENSG00000231933 ENST00000596813 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-125H2.2 Clone_based_vega_gene ENSG00000231933 15 0 0 12 4 25 SF3A1 0 genome.wustl.edu 37 22 30731741 30731741 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 22 30731741 30731741 C T SNP SF3A1 ENST00000215793 human ensembl 74_37 -1 known missense c.2108 p.G703D 1.000 NULL pfam_PRP21-like,pfam_Surp,pfam_Ubiquitin_dom,superfamily_Surp,smart_Surp,smart_Ubiquitin_dom,pfscan_Surp,pfscan_Ubiquitin_supergroup - no_errors SF3A1 HGNC ENSG00000099995 80 0 0 63 23 26.7442 TNFRSF13C 0 genome.wustl.edu 37 22 42322215 42322215 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 22 42322215 42322215 C T SNP TNFRSF13C ENST00000291232 human ensembl 74_37 -1 known missense c.257 p.G86D 1.000 prints_TNFR_13C pfam_TNFR_13C_TALL-1-bd,prints_TNFR_13C - no_errors TNFRSF13C HGNC ENSG00000159958 29 0 0 17 9 34.6154 PRR5 0 genome.wustl.edu 37 22 45132666 45132666 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 22 45132666 45132666 C T SNP PRR5 ENST00000336985 human ensembl 74_37 +1 known missense c.706 p.R236C 0.995 NULL pfam_HbrB - no_errors PRR5 HGNC ENSG00000186654 184 0 0 100 39 28.0576 CELSR1 0 genome.wustl.edu 37 22 46776852 46776852 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 22 46776852 46776852 C T SNP CELSR1 ENST00000262738 human ensembl 74_37 -1 known silent c.7089 p.R2363 0.995 pfam_DUF3497 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 42 0 0 29 13 30.9524 ATG7 0 genome.wustl.edu 37 3 11348463 11348463 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 11348463 11348463 T G SNP ATG7 ENST00000354449 human ensembl 74_37 +1 known missense c.262 p.Y88D 0.878 tigrfam_Atg7 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,tigrfam_Atg7 - no_errors ATG7 HGNC ENSG00000197548 153 0 0 88 63 41.7219 POLQ 0 genome.wustl.edu 37 3 121255950 121255950 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 121255950 121255950 G A SNP POLQ ENST00000264233 human ensembl 74_37 -1 known missense c.737 p.S246F 0.027 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A - no_errors POLQ HGNC ENSG00000051341 41 0 0 60 16 21.0526 ASTE1 0 genome.wustl.edu 37 3 130743848 130743848 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 130743848 130743848 C A SNP ASTE1 ENST00000264992 human ensembl 74_37 -1 known missense c.303 p.Q101H 0.923 NULL pfam_XPG_DNA_repair_N - no_errors ASTE1 HGNC ENSG00000034533 54 0 0 35 32 47.7612 CLSTN2 0 genome.wustl.edu 37 3 140277549 140277549 + Missense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 140277549 140277549 A T SNP CLSTN2 ENST00000458420 human ensembl 74_37 +1 known missense c.1891 p.I631F 0.080 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CLSTN2 HGNC ENSG00000158258 98 0 0 93 16 14.6789 NAALADL2 0 genome.wustl.edu 37 3 174814732 174814732 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 174814732 174814732 C A SNP NAALADL2 ENST00000454872 human ensembl 74_37 +1 known missense c.196 p.L66I 0.011 NULL superfamily_TFR-like_dimer_dom - no_errors NAALADL2 HGNC ENSG00000177694 38 0 0 39 13 25 OR5AC2 0 genome.wustl.edu 37 3 97806523 97806523 + Silent SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 97806523 97806523 T G SNP OR5AC2 ENST00000358642 human ensembl 74_37 +1 known silent c.507 p.T169 0.094 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5AC2 HGNC ENSG00000196578 89 0 0 104 18 14.7541 ETNPPL 0 genome.wustl.edu 37 4 109667632 109667632 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 109667632 109667632 A C SNP ETNPPL ENST00000296486 human ensembl 74_37 -1 known missense c.1226 p.L409R 0.994 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors ETNPPL HGNC ENSG00000164089 52 0 0 29 6 17.1429 NT5C3AP1 0 genome.wustl.edu 37 4 118496589 118496589 + RNA SNP T T A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 118496589 118496589 T A SNP NT5C3AP1 ENST00000441170 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors NT5C3AP1 HGNC ENSG00000213492 48 0 0 24 5 17.2414 TENM3 0 genome.wustl.edu 37 4 183714423 183714423 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 183714423 183714423 A G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.6598 p.R2200G 0.711 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 81 0 0 55 33 37.5 SLIT2 0 genome.wustl.edu 37 4 20597367 20597367 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 20597367 20597367 T G SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3230 p.F1077C 0.964 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 225 0 0 206 54 20.7692 NSUN7 0 genome.wustl.edu 37 4 40752722 40752722 + Silent SNP C C G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 40752722 40752722 C G SNP NSUN7 ENST00000381782 human ensembl 74_37 +1 known silent c.12 p.S4 0.000 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 94 0 0 57 19 25 GABRA4 0 genome.wustl.edu 37 4 46967016 46967016 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 46967016 46967016 T C SNP GABRA4 ENST00000264318 human ensembl 74_37 -1 known missense c.1105 p.R369G 0.850 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa4_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABBAa4_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA4 HGNC ENSG00000109158 92 0 0 59 30 33.7079 ATP10D 0 genome.wustl.edu 37 4 47574206 47574206 + Missense_Mutation SNP G G T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 47574206 47574206 G T SNP ATP10D ENST00000273859 human ensembl 74_37 +1 known missense c.3199 p.A1067S 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10D HGNC ENSG00000145246 88 0 0 59 20 25.3165 OCIAD2 0 genome.wustl.edu 37 4 48894870 48894870 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 48894870 48894870 G A SNP OCIAD2 ENST00000508632 human ensembl 74_37 -1 known missense c.302 p.S101L 0.218 pfam_OCIA pfam_OCIA - no_errors OCIAD2 HGNC ENSG00000145247 192 0 0 152 17 10.0592 ODAM 0 genome.wustl.edu 37 4 71063822 71063822 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 71063822 71063822 T G SNP ODAM ENST00000396094 human ensembl 74_37 +1 known missense c.323 p.V108G 0.001 NULL NULL - no_errors ODAM HGNC ENSG00000109205 218 0 0 108 65 37.5723 MOB1B 0 genome.wustl.edu 37 4 71844993 71844993 + Silent SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 4 71844993 71844993 T C SNP MOB1B ENST00000309395 human ensembl 74_37 +1 known silent c.558 p.F186 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB1B HGNC ENSG00000173542 73 0 0 48 29 37.6623 PCDHA10 0 genome.wustl.edu 37 5 140237357 140237357 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 5 140237357 140237357 C A SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1724 p.A575E 0.000 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 134 1 0.740741 132 34 20.4819 ADAM19 0 genome.wustl.edu 37 5 156907962 156907962 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 5 156907962 156907962 T G SNP ADAM19 ENST00000394020 human ensembl 74_37 -1 known missense c.2758 p.I920L 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 50 0 0 47 11 18.9655 KCNMB1 0 genome.wustl.edu 37 5 169810628 169810628 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 5 169810628 169810628 G A SNP KCNMB1 ENST00000521859 human ensembl 74_37 -1 known missense c.361 p.P121S 0.000 NULL pfam_K_chnl_Ca-activ_BK_bsu,prints_K_chnl_Ca-activ_BK_bsu - no_errors KCNMB1 HGNC ENSG00000145936 24 0 0 8 17 68 ADAMTS12 0 genome.wustl.edu 37 5 33637847 33637847 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 5 33637847 33637847 T C SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.1723 p.K575E 0.989 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 42 0 0 43 13 23.2143 SEC63 0 genome.wustl.edu 37 6 108214751 108214751 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 6 108214751 108214751 T C SNP SEC63 ENST00000369002 human ensembl 74_37 -1 known missense c.1609 p.T537A 0.982 superfamily_ARM-type_fold,smart_Sec63-dom pfam_Sec63-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_ARM-type_fold,smart_DnaJ_domain,smart_Sec63-dom,prints_DnaJ_domain,pfscan_DnaJ_domain - no_errors SEC63 HGNC ENSG00000025796 68 0 0 58 4 6.45161 SYNE1 0 genome.wustl.edu 37 6 152651681 152651681 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 6 152651681 152651681 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.14139 p.Q4713H 0.787 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 55 0 0 59 16 21.3333 THBS2 0 genome.wustl.edu 37 6 169623453 169623453 + Missense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 6 169623453 169623453 A T SNP THBS2 ENST00000366787 human ensembl 74_37 -1 known missense c.2891 p.M964K 1.000 superfamily_ConA-like_lec_gl_sf pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS2 HGNC ENSG00000186340 47 0 0 52 22 29.7297 HIST1H4C 0 genome.wustl.edu 37 6 26104229 26104229 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 6 26104229 26104229 C T SNP HIST1H4C ENST00000377803 human ensembl 74_37 +1 known silent c.54 p.R18 0.331 superfamily_Histone-fold,smart_Histone_H4 pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4 - no_errors HIST1H4C HGNC ENSG00000197061 111 0 0 62 30 32.6087 TNXB 0 genome.wustl.edu 37 6 32049829 32049829 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 6 32049829 32049829 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.3720 p.T1240 0.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 15 0 0 14 6 30 TDRD6 0 genome.wustl.edu 37 6 46658993 46658993 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 6 46658993 46658993 A G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.3128 p.K1043R 0.368 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 52 0 0 29 15 34.0909 COL12A1 0 genome.wustl.edu 37 6 75797366 75797366 + Silent SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 6 75797366 75797366 T C SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known silent c.9108 p.G3036 0.043 NULL pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 108 0 0 76 12 13.6364 PIK3CG 0 genome.wustl.edu 37 7 106508733 106508733 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 106508733 106508733 G A SNP PIK3CG ENST00000359195 human ensembl 74_37 +1 known missense c.727 p.A243T 0.000 pfam_PI3K_Ras-bd_dom,smart_PI3K_Ras-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CG HGNC ENSG00000105851 119 0 0 160 59 26.9406 PLXNA4 0 genome.wustl.edu 37 7 131864619 131864619 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 131864619 131864619 A C SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.3701 p.L1234R 1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 31 0 0 8 35 81.3953 KIAA1549 0 genome.wustl.edu 37 7 138546176 138546176 + Silent SNP C C G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 138546176 138546176 C G SNP KIAA1549 ENST00000422774 human ensembl 74_37 -1 known silent c.4956 p.V1652 0.028 NULL NULL - no_errors KIAA1549 HGNC ENSG00000122778 23 0 0 35 6 14.6341 CNTNAP2 0 genome.wustl.edu 37 7 147869394 147869394 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 147869394 147869394 T G SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2834 p.V945G 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 67 0 0 32 45 58.4416 CUL1 0 genome.wustl.edu 37 7 148427251 148427251 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 148427251 148427251 A C SNP CUL1 ENST00000325222 human ensembl 74_37 +1 known missense c.37 p.K13Q 1.000 NULL 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 153 0 0 66 125 65.445 TMEM248 0 genome.wustl.edu 37 7 66413649 66413649 + Silent SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 66413649 66413649 C A SNP TMEM248 ENST00000341567 human ensembl 74_37 +1 known silent c.564 p.L188 1.000 NULL NULL - no_errors TMEM248 HGNC ENSG00000106609 70 0 0 36 20 35.7143 PCLO 0 genome.wustl.edu 37 7 82784787 82784787 + Silent SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 82784787 82784787 A G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known silent c.1170 p.A390 0.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 94 0 0 54 15 21.7391 GRM3 0 genome.wustl.edu 37 7 86416183 86416183 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 86416183 86416183 T C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.1075 p.F359L 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 55 0 0 221 26 10.5263 GRM3 0 genome.wustl.edu 37 7 86416411 86416411 + Silent SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 86416411 86416411 T C SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known silent c.1303 p.L435 0.963 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_2 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 165 0 0 465 31 6.25 KIAA1324L 0 genome.wustl.edu 37 7 86539267 86539267 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 7 86539267 86539267 T G SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.2220 p.K740N 1.000 superfamily_Man6P_isomerase_rcpt-bd_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 53 0 0 156 23 12.8492 RIMS2 0 genome.wustl.edu 37 8 104898091 104898091 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 104898091 104898091 A G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.1264 p.S422G 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 79 0 0 43 30 41.0959 CSMD3 0 genome.wustl.edu 37 8 113988120 113988120 + Silent SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 113988120 113988120 T G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.1288 p.R430 0.998 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 119 0 0 92 34 26.9841 GSDMC 0 genome.wustl.edu 37 8 130762281 130762281 + Missense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 130762281 130762281 A T SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.1168 p.F390I 0.000 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 16 0 0 18 4 18.1818 FAM135B 0 genome.wustl.edu 37 8 139164785 139164785 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 139164785 139164785 T G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1933 p.S645R 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 76 0 0 61 30 32.967 CSMD1 0 genome.wustl.edu 37 8 2820840 2820840 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 2820840 2820840 T G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9361 p.S3121R 0.999 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 212 0 0 121 56 31.6384 TUBBP1 0 genome.wustl.edu 37 8 30210598 30210598 + RNA SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 30210598 30210598 C T SNP TUBBP1 ENST00000518096 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP1 HGNC ENSG00000127589 118 0 0 90 43 32.3308 ZMAT4 0 genome.wustl.edu 37 8 40532429 40532429 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 40532429 40532429 T C SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known missense c.371 p.K124R 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 241 0 0 136 65 32.3383 RP1 0 genome.wustl.edu 37 8 55533710 55533710 + Missense_Mutation SNP T T C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 55533710 55533710 T C SNP RP1 ENST00000220676 human ensembl 74_37 +1 known missense c.184 p.S62P 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1 HGNC ENSG00000104237 117 0 0 101 27 21.0938 SLC26A7 0 genome.wustl.edu 37 8 92401568 92401568 + Missense_Mutation SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 8 92401568 92401568 G A SNP SLC26A7 ENST00000309536 human ensembl 74_37 +1 known missense c.1678 p.E560K 0.876 pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A7 HGNC ENSG00000147606 166 0 0 101 38 27.3381 TSTD2 0 genome.wustl.edu 37 9 100367774 100367774 + Silent SNP G G C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 9 100367774 100367774 G C SNP TSTD2 ENST00000341170 human ensembl 74_37 -1 known silent c.1104 p.L368 0.998 pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TSTD2 HGNC ENSG00000136925 78 0 0 43 15 25.8621 SMC2 0 genome.wustl.edu 37 9 106889688 106889688 + Missense_Mutation SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 9 106889688 106889688 C T SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known missense c.2717 p.S906F 0.713 pfam_RecF/RecN/SMC_N,superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 108 0 0 108 13 10.7438 FBXW5 0 genome.wustl.edu 37 9 139835816 139835816 + Missense_Mutation SNP G G C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 9 139835816 139835816 G C SNP FBXW5 ENST00000325285 human ensembl 74_37 -1 known missense c.1344 p.F448L 0.594 superfamily_Quinoprot_gluc/sorb_DH pfam_WD40_repeat,pfam_F-box_dom,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW5 HGNC ENSG00000159069 71 0 0 77 11 12.5 OSTF1 0 genome.wustl.edu 37 9 77703615 77703615 + Nonsense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 9 77703615 77703615 A T SNP OSTF1 ENST00000346234 human ensembl 74_37 +1 known nonsense c.7 p.K3* 1.000 superfamily_SH3_domain pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain,prints_p67phox,prints_Ankyrin_rpt - no_errors OSTF1 HGNC ENSG00000134996 22 0 0 17 3 15 SPATA31E1 0 genome.wustl.edu 37 9 90503233 90503233 + Silent SNP G G A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 9 90503233 90503233 G A SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known silent c.3831 p.R1277 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 143 0 0 119 16 11.8519 MT-ND5 0 genome.wustl.edu 37 MT 12505 12505 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 MT 12505 12505 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known silent c.169 p.L57 NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 122 0 0 39 15 27.7778 MT-RNR1 0 genome.wustl.edu 37 MT 1393 1393 + RNA SNP G G C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 MT 1393 1393 G C SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 139 0 0 28 19 40.4255 GPM6B 0 genome.wustl.edu 37 X 13803813 13803813 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 13803813 13803813 A G SNP GPM6B ENST00000316715 human ensembl 74_37 -1 known missense c.296 p.L99P 0.997 pfam_Myelin_PLP pfam_Myelin_PLP,smart_Myelin_PLP,prints_Myelin_PLP - no_errors GPM6B HGNC ENSG00000046653 76 0 0 63 7 10 GABRQ 0 genome.wustl.edu 37 X 151821216 151821216 + Silent SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 151821216 151821216 A G SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known silent c.1371 p.S457 0.001 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 229 0 0 162 21 11.4754 MAGEA12 0 genome.wustl.edu 37 X 151900086 151900086 + Missense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 151900086 151900086 A T SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known missense c.715 p.F239I 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 267 0 0 165 75 31.25 CTAG2 0 genome.wustl.edu 37 X 153881527 153881527 + Missense_Mutation SNP A A T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 153881527 153881527 A T SNP CTAG2 ENST00000369585 human ensembl 74_37 -1 known missense c.263 p.L88H 0.000 NULL pfam_EKC/KEOPS_Pcc1 - no_errors CTAG2 HGNC ENSG00000126890 105 0 0 71 5 6.57895 AKAP17A 0 genome.wustl.edu 37 X 1712436 1712436 + Silent SNP C C T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 1712436 1712436 C T SNP AKAP17A ENST00000313871 human ensembl 74_37 +1 known silent c.81 p.I27 0.995 NULL NULL - no_errors AKAP17A HGNC ENSG00000197976 200 0 0 77 61 44.2029 MID1IP1 0 genome.wustl.edu 37 X 38664471 38664471 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 38664471 38664471 A G SNP MID1IP1 ENST00000336949 human ensembl 74_37 +1 known missense c.272 p.Y91C 1.000 pfam_Spot_14 pfam_Spot_14 - no_errors MID1IP1 HGNC ENSG00000165175 125 0 0 44 69 61.0619 HUWE1 0 genome.wustl.edu 37 X 53622292 53622292 + Missense_Mutation SNP C C A TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 53622292 53622292 C A SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.3235 p.V1079F 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 66 0 0 61 6 8.95522 OPHN1 0 genome.wustl.edu 37 X 67273537 67273537 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 67273537 67273537 T G SNP OPHN1 ENST00000355520 human ensembl 74_37 -1 known missense c.2274 p.E758D 0.989 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors OPHN1 HGNC ENSG00000079482 50 0 0 46 7 13.2075 TAF1 0 genome.wustl.edu 37 X 70627984 70627984 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 70627984 70627984 A C SNP TAF1 ENST00000449580 human ensembl 74_37 +1 known missense c.4364 p.N1455T 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1 HGNC ENSG00000147133 93 0 0 39 37 48.6842 ACRC 0 genome.wustl.edu 37 X 70824126 70824126 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 70824126 70824126 A C SNP ACRC ENST00000373695 human ensembl 74_37 +1 known missense c.999 p.E333D 0.000 NULL pfam_SprT-like_domain,smart_SprT-like_domain - no_errors ACRC HGNC ENSG00000147174 172 0 0 180 12 6.25 CYLC1 0 genome.wustl.edu 37 X 83128921 83128921 + Missense_Mutation SNP A A C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 83128921 83128921 A C SNP CYLC1 ENST00000329312 human ensembl 74_37 +1 known missense c.1205 p.K402T 0.163 NULL NULL - no_errors CYLC1 HGNC ENSG00000183035 21 0 0 17 4 19.0476 KLHL4 0 genome.wustl.edu 37 X 86880695 86880695 + Missense_Mutation SNP T T G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 86880695 86880695 T G SNP KLHL4 ENST00000373114 human ensembl 74_37 +1 known missense c.1223 p.L408R 1.000 NULL pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL4 HGNC ENSG00000102271 68 0 0 55 7 11.2903 TGIF2LX 0 genome.wustl.edu 37 X 89177518 89177518 + Missense_Mutation SNP A A G TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 89177518 89177518 A G SNP TGIF2LX ENST00000283891 human ensembl 74_37 +1 known missense c.434 p.K145R 0.000 NULL pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors TGIF2LX HGNC ENSG00000153779 117 0 0 104 23 18.1102 PDSS1 0 genome.wustl.edu 37 10 27035540 27035540 + RNA DEL T T - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 10 27035540 27035540 T - DEL PDSS1 ENST00000470978 human ensembl 74_37 +1 known rna NULL NULL 0.472 - - - no_errors PDSS1 HGNC ENSG00000148459 9 0 0 7 3 30 FAM155A 0 genome.wustl.edu 37 13 108518687 108518689 + In_Frame_Del DEL CTG CTG - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 13 108518687 108518689 CTG - DEL FAM155A ENST00000375915 human ensembl 74_37 -1 known in_frame_del c.258_256 p.Q86in_frame_del 1.000:0.992:0.987 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 81 0 0 72 9 11.1111 SNORD116-29 0 genome.wustl.edu 37 15 25351684 25351684 + RNA DEL A A - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 15 25351684 25351684 A - DEL SNORD116-29 ENST00000384516 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SNORD116-29 HGNC ENSG00000207245 60 0 0 38 26 40.625 SPRED1 0 genome.wustl.edu 37 15 38643621 38643621 + Frame_Shift_Del DEL A A - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 15 38643621 38643621 A - DEL SPRED1 ENST00000299084 human ensembl 74_37 +1 known frame_shift_del c.1091 p.Y364fs 1.000 pfam_Sprouty pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 148 0 0 73 65 47.1014 ZNF677 0 genome.wustl.edu 37 19 53741537 53741541 + Frame_Shift_Del DEL CTCTG CTCTG - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 CTCTG CTCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 19 53741537 53741541 CTCTG - DEL ZNF677 ENST00000333952 human ensembl 74_37 -1 known frame_shift_del c.443_439 p.Q147fs 0.004:0.011:0.145:0.340:0.446 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 ZNF677 HGNC ENSG00000197928 58 0 0 44 23 34.3284 SMYD5 0 genome.wustl.edu 37 2 73453020 73453023 + Frame_Shift_Del DEL GGAG GGAG - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 GGAG GGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 2 73453020 73453023 GGAG - DEL SMYD5 ENST00000389501 human ensembl 74_37 +1 known frame_shift_del c.1203_1206 p.E402fs 0.984:0.985:0.899:0.856 NULL pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SMYD5 HGNC ENSG00000135632 82 0 0 70 26 27.0833 PIK3CB 0 genome.wustl.edu 37 3 138382755 138382756 + Frame_Shift_Ins INS - - T TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 138382755 138382756 - T INS PIK3CB ENST00000289153 human ensembl 74_37 -1 known frame_shift_ins c.2789_2788 p.T930fs 0.998:1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_dom,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CB HGNC ENSG00000051382 73 0 0 69 16 18.8235 VILL 0 genome.wustl.edu 37 3 38040404 38040406 + In_Frame_Del DEL GCT GCT - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 3 38040404 38040406 GCT - DEL VILL ENST00000283713 human ensembl 74_37 +1 known in_frame_del c.944_946 p.GF315in_frame_delV 1.000:1.000:1.000 pfam_Gelsolin_dom,smart_Villin/Gelsolin pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors VILL HGNC ENSG00000136059 45 0 0 18 11 37.931 CTSL3P 0 genome.wustl.edu 37 9 90387873 90387874 + RNA INS - - C TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 9 90387873 90387874 - C INS CTSL3P ENST00000354530 human ensembl 74_37 +1 known rna NULL NULL 0.914:0.922 - - - no_errors CTSL3P HGNC ENSG00000188029 86 0 0 113 7 5.83333 OR13H1 0 genome.wustl.edu 37 X 130678330 130678330 + Frame_Shift_Del DEL C C - TCGA-BR-A4PD-01A-11D-A25D-08 TCGA-BR-A4PD-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2385d8ca-bd21-4d36-8ed9-1949a2165680 fc0f098d-8651-4be6-8401-e80d8641fbe1 X 130678330 130678330 C - DEL OR13H1 ENST00000338616 human ensembl 74_37 +1 known frame_shift_del c.283 p.R96fs 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 OR13H1 HGNC ENSG00000171054 82 0 0 96 8 7.69231