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 DPH5 0 genome.wustl.edu 37 1 101456138 101456138 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 101456138 101456138 G A SNP DPH5 ENST00000370109 human ensembl 74_37 -1 known silent c.684 p.D228 0.139 pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase pfam_4pyrrol_Mease,superfamily_4pyrrol_Mease,pirsf_Dphthn_synthase,tigrfam_Dphthn_synthase - no_errors DPH5 HGNC ENSG00000117543 105 0 0 66 18 21.4286 NTNG1 0 genome.wustl.edu 37 1 107691419 107691419 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 107691419 107691419 G A SNP NTNG1 ENST00000370068 human ensembl 74_37 +1 known silent c.204 p.P68 0.747 smart_Laminin_N,pfscan_Laminin_N pfam_Laminin_N,pfam_EGF_laminin,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG1 HGNC ENSG00000162631 134 0 0 83 24 22.4299 EPS8L3 0 genome.wustl.edu 37 1 110301215 110301215 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 110301215 110301215 T C SNP EPS8L3 ENST00000369805 human ensembl 74_37 -1 known missense c.535 p.M179V 0.000 NULL pfam_PTB,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8L3 HGNC ENSG00000198758 73 0 0 75 6 7.40741 LRIF1 0 genome.wustl.edu 37 1 111490937 111490937 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 111490937 111490937 C T SNP LRIF1 ENST00000369763 human ensembl 74_37 -1 known missense c.1954 p.A652T 0.002 NULL NULL - no_errors LRIF1 HGNC ENSG00000121931 110 1 0.900901 79 16 16.8421 DDX20 0 genome.wustl.edu 37 1 112308658 112308658 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 112308658 112308658 T C SNP DDX20 ENST00000369702 human ensembl 74_37 +1 known missense c.1612 p.C538R 0.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX20 HGNC ENSG00000064703 72 0 0 75 4 5.06329 SPAG17 0 genome.wustl.edu 37 1 118609480 118609480 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 118609480 118609480 A G SNP SPAG17 ENST00000336338 human ensembl 74_37 -1 known missense c.2428 p.Y810H 1.000 NULL NULL - no_errors SPAG17 HGNC ENSG00000155761 86 0 0 46 7 13.2075 C1orf158 0 genome.wustl.edu 37 1 12806445 12806445 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 12806445 12806445 T C SNP C1orf158 ENST00000288048 human ensembl 74_37 +1 known missense c.67 p.S23P 0.998 NULL NULL - no_errors C1orf158 HGNC ENSG00000157330 100 0 0 61 5 7.57576 ATAD3B 0 genome.wustl.edu 37 1 1421563 1421563 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 1421563 1421563 G T SNP ATAD3B ENST00000308647 human ensembl 74_37 +1 known missense c.1037 p.R346M 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_DUF3523,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD3B HGNC ENSG00000160072 82 0 0 93 24 20.5128 GJA8 0 genome.wustl.edu 37 1 147380281 147380281 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 147380281 147380281 G A SNP GJA8 ENST00000240986 human ensembl 74_37 +1 known missense c.199 p.D67N 1.000 pfam_Connexin_N,smart_Connexin_N,prints_Connexin pfam_Connexin_N,pfam_Connexin50,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin50 - no_errors GJA8 HGNC ENSG00000121634 69 0 0 54 20 27.027 POGZ 0 genome.wustl.edu 37 1 151378226 151378226 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 151378226 151378226 C A SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.3285 p.K1095N 1.000 NULL pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 92 0 0 88 32 26.6667 TCHH 0 genome.wustl.edu 37 1 152080709 152080709 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 152080709 152080709 G A SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.4984 p.R1662C 0.262 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 143 0 0 189 19 9.13462 FLG 0 genome.wustl.edu 37 1 152280923 152280923 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 152280923 152280923 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.6439 p.G2147R 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 507 0 0 416 142 25.448 LOR 0 genome.wustl.edu 37 1 153233517 153233517 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 153233517 153233517 G A SNP LOR ENST00000368742 human ensembl 74_37 +1 known missense c.92 p.G31D 0.005 NULL NULL - no_errors LOR HGNC ENSG00000203782 24 0 0 37 5 11.9048 ILF2 0 genome.wustl.edu 37 1 153642708 153642708 + Splice_Site SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 153642708 153642708 T C SNP ILF2 ENST00000361891 human ensembl 74_37 -1 known splice_site c.6-2 e2-2 0.994 - - - no_errors ILF2 HGNC ENSG00000143621 79 0 0 75 22 22.6804 DENND4B 0 genome.wustl.edu 37 1 153907329 153907329 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 153907329 153907329 G A SNP DENND4B ENST00000361217 human ensembl 74_37 -1 known missense c.2680 p.R894W 0.968 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4B HGNC ENSG00000198837 112 0 0 102 23 18.4 FAM189B 0 genome.wustl.edu 37 1 155221667 155221667 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 155221667 155221667 T C SNP FAM189B ENST00000361361 human ensembl 74_37 -1 known silent c.651 p.P217 0.200 NULL pfam_CD20-like - no_errors FAM189B HGNC ENSG00000160767 10 0 0 6 2 25 RXFP4 0 genome.wustl.edu 37 1 155911718 155911718 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 155911718 155911718 G A SNP RXFP4 ENST00000368318 human ensembl 74_37 +1 known missense c.218 p.G73D 0.040 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors RXFP4 HGNC ENSG00000173080 64 0 0 68 28 29.1667 SMG5 0 genome.wustl.edu 37 1 156235649 156235649 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 156235649 156235649 T C SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.1778 p.Q593R 1.000 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 131 0 0 122 21 14.6853 SMG5 0 genome.wustl.edu 37 1 156235910 156235910 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 156235910 156235910 G A SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known missense c.1517 p.T506M 0.998 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 115 0 0 104 35 25.1799 APOA1BP 0 genome.wustl.edu 37 1 156563292 156563292 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 156563292 156563292 C T SNP APOA1BP ENST00000368234 human ensembl 74_37 +1 known missense c.553 p.P185S 1.000 NULL pfam_YjeF_N_dom,superfamily_YjeF_N_dom - no_errors APOA1BP HGNC ENSG00000163382 88 0 0 57 14 19.7183 PEAR1 0 genome.wustl.edu 37 1 156875185 156875185 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 156875185 156875185 T C SNP PEAR1 ENST00000292357 human ensembl 74_37 +1 known silent c.276 p.H92 0.116 superfamily_Growth_fac_rcpt_N_dom,pfscan_EMI_domain pfam_EGF_laminin,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors PEAR1 HGNC ENSG00000187800 42 0 0 60 6 9.09091 CD5L 0 genome.wustl.edu 37 1 157804431 157804431 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 157804431 157804431 C T SNP CD5L ENST00000368174 human ensembl 74_37 -1 known missense c.484 p.V162M 0.990 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD5L HGNC ENSG00000073754 104 0 0 108 29 21.1679 CD1D 0 genome.wustl.edu 37 1 158152844 158152844 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 158152844 158152844 T C SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.784 p.Y262H 0.830 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 114 0 0 113 20 15.0376 SPTA1 0 genome.wustl.edu 37 1 158632648 158632648 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 158632648 158632648 A G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.2308 p.S770P 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 86 0 0 58 11 15.942 OR6K3 0 genome.wustl.edu 37 1 158687066 158687066 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 158687066 158687066 A G SNP OR6K3 ENST00000368146 human ensembl 74_37 -1 known silent c.888 p.L296 0.015 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6K3 HGNC ENSG00000203757 113 0 0 97 21 17.7966 DCAF8 0 genome.wustl.edu 37 1 160208501 160208501 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 160208501 160208501 C T SNP DCAF8 ENST00000608310 human ensembl 74_37 -1 known missense c.1222 p.A408T 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_Pex19,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8 HGNC ENSG00000132716 35 0 0 20 8 28.5714 B4GALT3 0 genome.wustl.edu 37 1 161143511 161143511 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 161143511 161143511 C T SNP B4GALT3 ENST00000319769 human ensembl 74_37 -1 known silent c.687 p.P229 0.368 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT3 HGNC ENSG00000158850 95 0 0 98 6 5.76923 FCRLB 0 genome.wustl.edu 37 1 161695837 161695837 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 161695837 161695837 C T SNP FCRLB ENST00000367948 human ensembl 74_37 +1 known silent c.534 p.S178 1.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCRLB HGNC ENSG00000162746 60 0 0 35 16 31.3725 SPEN 0 genome.wustl.edu 37 1 16258904 16258904 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 16258904 16258904 A G SNP SPEN ENST00000375759 human ensembl 74_37 +1 known missense c.6169 p.T2057A 0.000 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 69 0 0 84 6 6.66667 HSD17B7 0 genome.wustl.edu 37 1 162769680 162769680 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 162769680 162769680 G A SNP HSD17B7 ENST00000254521 human ensembl 74_37 +1 known missense c.595 p.A199T 1.000 prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors HSD17B7 HGNC ENSG00000132196 42 0 0 28 10 26.3158 RXRG 0 genome.wustl.edu 37 1 165386448 165386448 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 165386448 165386448 T C SNP RXRG ENST00000359842 human ensembl 74_37 -1 known missense c.452 p.Y151C 0.998 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Nuc_recep-AF1,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF - no_errors RXRG HGNC ENSG00000143171 154 0 0 96 41 29.927 NADK 0 genome.wustl.edu 37 1 1685737 1685737 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 1685737 1685737 G A SNP NADK ENST00000344463 human ensembl 74_37 -1 known missense c.1364 p.T455M 0.991 pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ - no_errors NADK HGNC ENSG00000008130 28 0 0 36 6 14.2857 F5 0 genome.wustl.edu 37 1 169515679 169515679 + Splice_Site SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 169515679 169515679 C A SNP F5 ENST00000367797 human ensembl 74_37 -1 known splice_site c.1762+1 e11+1 1.000 - - - no_errors F5 HGNC ENSG00000198734 75 0 0 57 3 5 MYOC 0 genome.wustl.edu 37 1 171605701 171605701 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 171605701 171605701 C T SNP MYOC ENST00000037502 human ensembl 74_37 -1 known silent c.879 p.T293 0.000 pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors MYOC HGNC ENSG00000034971 69 0 0 81 9 10 IVNS1ABP 0 genome.wustl.edu 37 1 185267231 185267231 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 185267231 185267231 G A SNP IVNS1ABP ENST00000367498 human ensembl 74_37 -1 known missense c.1865 p.T622M 1.000 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1 pfam_Kelch_1,pfam_Kelch_2,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors IVNS1ABP HGNC ENSG00000116679 218 0 0 145 48 24.8705 RGS18 0 genome.wustl.edu 37 1 192128397 192128397 + Missense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 192128397 192128397 A T SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known missense c.167 p.E56V 0.911 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 59 0 0 41 11 21.1538 UBR4 0 genome.wustl.edu 37 1 19449413 19449413 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 19449413 19449413 G A SNP UBR4 ENST00000375267 human ensembl 74_37 -1 known silent c.9730 p.L3244 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR4 HGNC ENSG00000127481 105 0 0 110 8 6.77966 KIF21B 0 genome.wustl.edu 37 1 200973959 200973959 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 200973959 200973959 G A SNP KIF21B ENST00000422435 human ensembl 74_37 -1 known missense c.835 p.R279W 1.000 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_WD40_repeat,superfamily_P-loop_NTPase,superfamily_WD40_repeat_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,smart_WD40_repeat,pfscan_Kinesin_motor_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Kinesin_motor_dom - no_errors KIF21B HGNC ENSG00000116852 48 0 0 37 16 30.1887 CACNA1S 0 genome.wustl.edu 37 1 201058527 201058527 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 201058527 201058527 C T SNP CACNA1S ENST00000362061 human ensembl 74_37 -1 known silent c.759 p.R253 0.043 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 39 0 0 29 8 21.6216 GPR37L1 0 genome.wustl.edu 37 1 202097020 202097020 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 202097020 202097020 C T SNP GPR37L1 ENST00000367282 human ensembl 74_37 +1 known missense c.782 p.T261M 0.898 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37L1 HGNC ENSG00000170075 52 0 0 49 12 19.6721 DSTYK 0 genome.wustl.edu 37 1 205117339 205117339 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 205117339 205117339 G A SNP DSTYK ENST00000367162 human ensembl 74_37 -1 known missense c.2596 p.R866W 0.999 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DSTYK HGNC ENSG00000133059 116 0 0 81 29 26.3636 C4BPB 0 genome.wustl.edu 37 1 207269950 207269950 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 207269950 207269950 T C SNP C4BPB ENST00000243611 human ensembl 74_37 +1 known missense c.493 p.C165R 0.551 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors C4BPB HGNC ENSG00000123843 58 0 0 46 12 20.6897 RD3 0 genome.wustl.edu 37 1 211652526 211652526 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 211652526 211652526 C T SNP RD3 ENST00000367002 human ensembl 74_37 -1 known missense c.440 p.R147H 0.858 NULL NULL - no_errors RD3 HGNC ENSG00000198570 28 0 0 22 6 21.4286 SLC30A1 0 genome.wustl.edu 37 1 211748999 211748999 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 211748999 211748999 G A SNP SLC30A1 ENST00000367001 human ensembl 74_37 -1 known missense c.1255 p.P419S 1.000 pfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A1 HGNC ENSG00000170385 100 1 0.990099 87 27 23.6842 CENPF 0 genome.wustl.edu 37 1 214813766 214813766 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 214813766 214813766 C A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known silent c.2085 p.T695 0.631 NULL pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 46 0 0 41 3 6.81818 HLX 0 genome.wustl.edu 37 1 221053526 221053526 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 221053526 221053526 G A SNP HLX ENST00000366903 human ensembl 74_37 +1 known silent c.327 p.P109 0.992 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 35 0 0 49 10 16.9492 DUSP10 0 genome.wustl.edu 37 1 221875745 221875745 + RNA SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 221875745 221875745 A G SNP DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 189 0 0 165 35 17.5 DISP1 0 genome.wustl.edu 37 1 223177225 223177225 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 223177225 223177225 A G SNP DISP1 ENST00000284476 human ensembl 74_37 +1 novel missense c.2486 p.H829R 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors DISP1 HGNC ENSG00000154309 106 0 0 65 24 26.9663 TLR5 0 genome.wustl.edu 37 1 223286273 223286273 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 223286273 223286273 C T SNP TLR5 ENST00000342210 human ensembl 74_37 -1 known missense c.101 p.R34H 0.001 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR5 HGNC ENSG00000187554 68 0 0 59 10 14.4928 OBSCN 0 genome.wustl.edu 37 1 228447426 228447426 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 228447426 228447426 T C SNP OBSCN ENST00000570156 human ensembl 74_37 +1 putative missense c.5086 p.Y1696H 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 104 0 0 103 17 14.1667 OBSCN 0 genome.wustl.edu 37 1 228475418 228475418 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 228475418 228475418 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.9568 p.A3190T 0.436 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 53 0 0 50 14 21.875 OBSCN 0 genome.wustl.edu 37 1 228554800 228554800 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 228554800 228554800 G A SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.19552 p.A6518T 0.121 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 21 0 0 19 5 20.8333 C1QC 0 genome.wustl.edu 37 1 22974057 22974057 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 22974057 22974057 G A SNP C1QC ENST00000374637 human ensembl 74_37 +1 known silent c.519 p.S173 0.008 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QC HGNC ENSG00000159189 60 0 0 77 12 13.4831 EXOC8 0 genome.wustl.edu 37 1 231471552 231471552 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 231471552 231471552 A G SNP EXOC8 ENST00000360394 human ensembl 74_37 -1 known missense c.1940 p.L647P 1.000 NULL superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors EXOC8 HGNC ENSG00000116903 154 0 0 134 12 8.21918 NID1 0 genome.wustl.edu 37 1 236228195 236228195 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 236228195 236228195 G A SNP NID1 ENST00000264187 human ensembl 74_37 -1 known missense c.185 p.A62V 0.034 NULL pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd_dom,superfamily_GFP,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 20 0 0 33 3 8.33333 ZP4 0 genome.wustl.edu 37 1 238048859 238048859 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 238048859 238048859 T C SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.992 p.Y331C 0.977 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 71 0 0 48 4 7.69231 FMN2 0 genome.wustl.edu 37 1 240371471 240371471 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 240371471 240371471 C T SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known missense c.3359 p.P1120L 0.217 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 22 0 0 32 4 11.1111 IFNLR1 0 genome.wustl.edu 37 1 24484052 24484052 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 24484052 24484052 G A SNP IFNLR1 ENST00000327535 human ensembl 74_37 -1 known silent c.1131 p.S377 0.000 NULL superfamily_Fibronectin_type3 - no_errors IFNLR1 HGNC ENSG00000185436 37 0 0 35 19 35.1852 KIF26B 0 genome.wustl.edu 37 1 245704075 245704075 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 245704075 245704075 C A SNP KIF26B ENST00000407071 human ensembl 74_37 +1 known silent c.1173 p.A391 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF26B HGNC ENSG00000162849 215 0 0 140 30 17.6471 RUNX3 0 genome.wustl.edu 37 1 25254159 25254159 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 25254159 25254159 C A SNP RUNX3 ENST00000338888 human ensembl 74_37 -1 known missense c.387 p.E129D 1.000 pfam_Runt_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX3 HGNC ENSG00000020633 158 0 0 180 30 14.2857 SEPN1 0 genome.wustl.edu 37 1 26135608 26135608 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 26135608 26135608 C A SNP SEPN1 ENST00000354177 human ensembl 74_37 +1 known missense c.737 p.A246D 1.000 NULL pfscan_EF_hand_dom - no_errors SEPN1 HGNC ENSG00000162430 98 0 0 99 29 22.6562 CATSPER4 0 genome.wustl.edu 37 1 26524495 26524495 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 26524495 26524495 G A SNP CATSPER4 ENST00000456354 human ensembl 74_37 +1 known missense c.605 p.R202Q 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 176 0 0 174 38 17.9245 SDC3 0 genome.wustl.edu 37 1 31349853 31349853 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 31349853 31349853 G A SNP SDC3 ENST00000339394 human ensembl 74_37 -1 known missense c.416 p.A139V 0.992 pfam_Syndecan/Neurexin_dom pfam_Syndecan/Neurexin_dom,smart_Neurexin-like - no_errors SDC3 HGNC ENSG00000162512 46 0 0 51 3 5.55556 KPNA6 0 genome.wustl.edu 37 1 32628122 32628122 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 32628122 32628122 T C SNP KPNA6 ENST00000545542 human ensembl 74_37 +1 known missense c.923 p.L308P 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA6 HGNC ENSG00000025800 77 0 0 66 7 9.58904 TRIM62 0 genome.wustl.edu 37 1 33623854 33623854 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 33623854 33623854 C A SNP TRIM62 ENST00000291416 human ensembl 74_37 -1 known missense c.877 p.V293L 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM62 HGNC ENSG00000116525 101 1 0.980392 91 15 14.1509 NCDN 0 genome.wustl.edu 37 1 36031043 36031043 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 36031043 36031043 G A SNP NCDN ENST00000356090 human ensembl 74_37 +1 known missense c.1969 p.A657T 0.435 NULL NULL - no_errors NCDN HGNC ENSG00000020129 29 0 0 27 7 20.5882 AGO4 0 genome.wustl.edu 37 1 36306800 36306800 + Nonsense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 36306800 36306800 G T SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known nonsense c.1759 p.G587* 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 56 0 0 48 12 20 AGO3 0 genome.wustl.edu 37 1 36520603 36520603 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 36520603 36520603 A G SNP AGO3 ENST00000373191 human ensembl 74_37 +1 known silent c.2331 p.A777 0.992 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO3 HGNC ENSG00000126070 113 1 0.877193 65 13 16.6667 HEYL 0 genome.wustl.edu 37 1 40098329 40098329 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 40098329 40098329 G A SNP HEYL ENST00000372852 human ensembl 74_37 -1 known missense c.139 p.H47Y 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,pfam_Orange,superfamily_bHLH_dom,smart_bHLH_dom,smart_Orange_subgr,pfscan_Orange,pfscan_bHLH_dom - no_errors HEYL HGNC ENSG00000163909 240 0 0 267 16 5.65371 HPCAL4 0 genome.wustl.edu 37 1 40149756 40149756 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 40149756 40149756 G A SNP HPCAL4 ENST00000372844 human ensembl 74_37 -1 known silent c.231 p.D77 0.998 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors HPCAL4 HGNC ENSG00000116983 51 0 0 50 7 12.2807 RIMKLA 0 genome.wustl.edu 37 1 42880412 42880412 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 42880412 42880412 C A SNP RIMKLA ENST00000431473 human ensembl 74_37 +1 known missense c.943 p.P315T 1.000 NULL pfam_ATP-grasp_RimK-type,pfam_GSHS_ATP-bd,pfam_ATP-grasp_DUF201-type,pfscan_ATP-grasp,tigrfam_RpS6_RimK/Lys_biosynth_LsyX - no_errors RIMKLA HGNC ENSG00000177181 100 0 0 81 19 19 SZT2 0 genome.wustl.edu 37 1 43889992 43889992 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 43889992 43889992 C T SNP SZT2 ENST00000562955 human ensembl 74_37 +1 known missense c.2360 p.A787V 1.000 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 60 0 0 70 6 7.89474 ZSWIM5 0 genome.wustl.edu 37 1 45484698 45484698 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 45484698 45484698 T C SNP ZSWIM5 ENST00000359600 human ensembl 74_37 -1 known missense c.2986 p.T996A 1.000 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 119 0 0 92 32 25.8065 AJAP1 0 genome.wustl.edu 37 1 4832466 4832466 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 4832466 4832466 G A SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known silent c.1044 p.T348 0.995 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 44 0 0 38 11 22.449 ZFYVE9 0 genome.wustl.edu 37 1 52705193 52705193 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 52705193 52705193 G A SNP ZFYVE9 ENST00000287727 human ensembl 74_37 +1 known missense c.2104 p.A702T 1.000 pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel pfam_DUF3480,pfam_SARA_Smad-bd,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pirsf_Znf_FYVE_SARA/endofin,pfscan_Znf_FYVE-rel - no_errors ZFYVE9 HGNC ENSG00000157077 85 0 0 74 9 10.8434 TTC4 0 genome.wustl.edu 37 1 55197241 55197241 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 55197241 55197241 G T SNP TTC4 ENST00000371281 human ensembl 74_37 +1 known missense c.764 p.G255V 1.000 NULL smart_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC4 HGNC ENSG00000243725 68 0 0 27 15 35.7143 C1orf177 0 genome.wustl.edu 37 1 55273338 55273338 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 55273338 55273338 C T SNP C1orf177 ENST00000371273 human ensembl 74_37 +1 known missense c.332 p.A111V 0.462 NULL NULL - no_errors C1orf177 HGNC ENSG00000162398 30 0 0 23 6 20.6897 EFCAB7 0 genome.wustl.edu 37 1 63998360 63998360 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 63998360 63998360 G A SNP EFCAB7 ENST00000371088 human ensembl 74_37 +1 known missense c.419 p.R140Q 0.002 NULL smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB7 HGNC ENSG00000203965 93 0 0 51 13 20.3125 PLEKHG5 0 genome.wustl.edu 37 1 6531129 6531129 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 6531129 6531129 T C SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1550 p.Y517C 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 9 0 0 8 6 42.8571 NEGR1 0 genome.wustl.edu 37 1 72241870 72241870 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 72241870 72241870 G A SNP NEGR1 ENST00000357731 human ensembl 74_37 -1 known missense c.520 p.H174Y 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors NEGR1 HGNC ENSG00000172260 67 0 0 34 5 12.8205 CCBL2 0 genome.wustl.edu 37 1 89408705 89408705 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 89408705 89408705 G A SNP CCBL2 ENST00000260508 human ensembl 74_37 -1 known missense c.1285 p.R429C 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors CCBL2 HGNC ENSG00000137944 287 1 0.347222 180 24 11.7647 GBP5 0 genome.wustl.edu 37 1 89730595 89730595 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 89730595 89730595 G T SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.923 p.P308H 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 103 0 0 70 9 11.3924 GBP5 0 genome.wustl.edu 37 1 89732816 89732816 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 89732816 89732816 T C SNP GBP5 ENST00000343435 human ensembl 74_37 -1 known missense c.449 p.D150G 0.985 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP5 HGNC ENSG00000154451 120 0 0 73 17 18.8889 KLHL17 0 genome.wustl.edu 37 1 900386 900386 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 900386 900386 G A SNP KLHL17 ENST00000338591 human ensembl 74_37 +1 known missense c.1744 p.V582M 0.993 pfam_Kelch_1,pfam_Kelch_2,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL17 HGNC ENSG00000187961 34 0 0 40 8 16.6667 LRRC8D 0 genome.wustl.edu 37 1 90399510 90399510 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 90399510 90399510 C T SNP LRRC8D ENST00000337338 human ensembl 74_37 +1 known missense c.883 p.R295C 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8D HGNC ENSG00000171492 47 0 0 40 5 11.1111 EPHX4 0 genome.wustl.edu 37 1 92498145 92498145 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 92498145 92498145 C A SNP EPHX4 ENST00000370383 human ensembl 74_37 +1 known missense c.315 p.F105L 1.000 prints_Epox_hydrolase-like pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX4 HGNC ENSG00000172031 99 0 0 76 4 5 RPAP2 0 genome.wustl.edu 37 1 92811469 92811469 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 92811469 92811469 A G SNP RPAP2 ENST00000610020 human ensembl 74_37 +1 known silent c.1686 p.S562 0.996 NULL pfam_DUF408 - no_errors RPAP2 HGNC ENSG00000122484 113 0 0 61 7 10.2941 ABCA4 0 genome.wustl.edu 37 1 94476454 94476454 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 94476454 94476454 C A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known missense c.5616 p.W1872C 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 82 0 0 67 17 20.2381 AGRN 0 genome.wustl.edu 37 1 977059 977059 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 977059 977059 G A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.1154 p.R385H 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 67 0 0 43 17 28.3333 CLSTN1 0 genome.wustl.edu 37 1 9795576 9795576 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 9795576 9795576 C T SNP CLSTN1 ENST00000377298 human ensembl 74_37 -1 known missense c.1832 p.R611Q 0.999 NULL pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 172 0 0 122 42 25.6098 CUTC 0 genome.wustl.edu 37 10 101503026 101503026 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 101503026 101503026 C T SNP CUTC ENST00000370476 human ensembl 74_37 +1 known missense c.310 p.R104C 1.000 pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom pfam_Cu_homeostasis_CutC,superfamily_Cu_homeostasis_CutC_dom - no_errors CUTC HGNC ENSG00000119929 174 0 0 110 44 28.5714 SFXN3 0 genome.wustl.edu 37 10 102798404 102798404 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 102798404 102798404 G A SNP SFXN3 ENST00000224807 human ensembl 74_37 +1 known missense c.788 p.R263H 0.996 pfam_Mtc,tigrfam_Mtc pfam_Mtc,tigrfam_Mtc - no_errors SFXN3 HGNC ENSG00000107819 117 0 0 79 14 15.0538 KAZALD1 0 genome.wustl.edu 37 10 102824653 102824653 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 102824653 102824653 T G SNP KAZALD1 ENST00000370200 human ensembl 74_37 +1 known missense c.891 p.S297R 0.995 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_IGFBP-like,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pirsf_IGFBP_rP_mac25,pfscan_Ig-like_dom - no_errors KAZALD1 HGNC ENSG00000107821 51 0 0 64 5 7.24638 FBXW4 0 genome.wustl.edu 37 10 103370906 103370906 + RNA SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 103370906 103370906 A C SNP FBXW4 ENST00000470093 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FBXW4 HGNC ENSG00000107829 16 0 0 11 3 21.4286 HPS6 0 genome.wustl.edu 37 10 103826834 103826834 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 103826834 103826834 C T SNP HPS6 ENST00000299238 human ensembl 74_37 +1 known silent c.1603 p.L535 0.761 pirsf_BLOC-2_complex_Hps6_subunit pirsf_BLOC-2_complex_Hps6_subunit - no_errors HPS6 HGNC ENSG00000166189 74 0 0 82 26 24.0741 LDB1 0 genome.wustl.edu 37 10 103867975 103867975 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 103867975 103867975 C T SNP LDB1 ENST00000425280 human ensembl 74_37 -1 known missense c.1111 p.G371S 1.000 NULL NULL - no_errors LDB1 HGNC ENSG00000198728 111 0 0 126 8 5.97015 SORCS1 0 genome.wustl.edu 37 10 108924061 108924061 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 108924061 108924061 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.224 p.R75H 0.999 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 14 0 0 17 3 15 SORCS1 0 genome.wustl.edu 37 10 108924097 108924097 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 108924097 108924097 C T SNP SORCS1 ENST00000344440 human ensembl 74_37 -1 known missense c.188 p.G63D 0.003 NULL pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 11 0 0 8 3 27.2727 USP6NL 0 genome.wustl.edu 37 10 11505504 11505504 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 11505504 11505504 C T SNP USP6NL ENST00000379237 human ensembl 74_37 -1 known missense c.1492 p.A498T 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors USP6NL HGNC ENSG00000148429 277 0 0 248 46 15.6463 PROSER2 0 genome.wustl.edu 37 10 11911830 11911830 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 11911830 11911830 C T SNP PROSER2 ENST00000277570 human ensembl 74_37 +1 known missense c.733 p.P245S 0.000 NULL NULL - no_errors PROSER2 HGNC ENSG00000148426 9 0 0 10 3 23.0769 RAB11FIP2 0 genome.wustl.edu 37 10 119805671 119805671 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 119805671 119805671 T G SNP RAB11FIP2 ENST00000369199 human ensembl 74_37 -1 known missense c.4 p.M2L 1.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP2 HGNC ENSG00000107560 173 0 0 150 14 8.53659 FGFR2 0 genome.wustl.edu 37 10 123256201 123256201 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 123256201 123256201 C G SNP FGFR2 ENST00000457416 human ensembl 74_37 -1 known missense c.1711 p.G571R 1.000 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR2 HGNC ENSG00000066468 170 0 0 135 22 14.0127 NPS 0 genome.wustl.edu 37 10 129347763 129347763 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 129347763 129347763 C T SNP NPS ENST00000398023 human ensembl 74_37 +1 known missense c.19 p.L7F 0.001 NULL NULL - no_errors NPS HGNC ENSG00000214285 124 0 0 76 21 21.6495 JAKMIP3 0 genome.wustl.edu 37 10 133963530 133963530 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 133963530 133963530 C T SNP JAKMIP3 ENST00000298622 human ensembl 74_37 +1 known silent c.1992 p.G664 0.996 NULL NULL - no_errors JAKMIP3 HGNC ENSG00000188385 22 0 0 22 5 18.5185 ST8SIA6 0 genome.wustl.edu 37 10 17363280 17363280 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 17363280 17363280 A C SNP ST8SIA6 ENST00000377602 human ensembl 74_37 -1 known missense c.794 p.F265C 0.868 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 125 0 0 71 18 20.2247 PLXDC2 0 genome.wustl.edu 37 10 20432315 20432315 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 20432315 20432315 C T SNP PLXDC2 ENST00000377252 human ensembl 74_37 +1 known silent c.633 p.S211 1.000 NULL pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like_fold - no_errors PLXDC2 HGNC ENSG00000120594 152 0 0 70 26 27.0833 NEBL 0 genome.wustl.edu 37 10 21097514 21097514 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 21097514 21097514 C A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.2686 p.D896Y 1.000 NULL pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 133 0 0 91 25 21.5517 NEBL 0 genome.wustl.edu 37 10 21139364 21139364 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 21139364 21139364 G A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known missense c.1076 p.S359L 0.511 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 186 0 0 96 30 23.8095 NEBL 0 genome.wustl.edu 37 10 21177122 21177122 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 21177122 21177122 G A SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.273 p.G91 0.165 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 67 0 0 34 8 19.0476 SKIDA1 0 genome.wustl.edu 37 10 21805337 21805337 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 21805337 21805337 C T SNP SKIDA1 ENST00000449193 human ensembl 74_37 -1 known missense c.1415 p.C472Y 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 50 0 0 50 17 25.3731 ZMYND11 0 genome.wustl.edu 37 10 255850 255850 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 255850 255850 T C SNP ZMYND11 ENST00000381591 human ensembl 74_37 +1 known silent c.138 p.G46 1.000 NULL pfam_PWWP_dom,pfam_Bromodomain,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND11 HGNC ENSG00000015171 121 0 0 82 21 20.3883 GAD2 0 genome.wustl.edu 37 10 26506598 26506598 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 26506598 26506598 G A SNP GAD2 ENST00000259271 human ensembl 74_37 +1 known missense c.136 p.A46T 1.000 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors GAD2 HGNC ENSG00000136750 23 0 0 16 9 36 ZNF33A 0 genome.wustl.edu 37 10 38299639 38299639 + RNA SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 38299639 38299639 G A SNP ZNF33A ENST00000476504 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZNF33A HGNC ENSG00000189180 56 0 0 57 9 13.6364 GDF10 0 genome.wustl.edu 37 10 48429293 48429293 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 48429293 48429293 C T SNP GDF10 ENST00000224605 human ensembl 74_37 -1 known missense c.593 p.R198H 0.149 pirsf_BMP3/GDF10 pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C,pirsf_BMP3/GDF10 - no_errors GDF10 HGNC ENSG00000107623 42 0 0 33 8 19.5122 DIP2C 0 genome.wustl.edu 37 10 486873 486873 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 486873 486873 G T SNP DIP2C ENST00000280886 human ensembl 74_37 -1 known missense c.332 p.P111H 1.000 pfam_DMAP1-bd pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 45 0 0 37 11 22.9167 NCOA4 0 genome.wustl.edu 37 10 51579211 51579211 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 51579211 51579211 C T SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known missense c.118 p.R40W 0.998 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 145 0 0 107 35 24.6479 FAM13C 0 genome.wustl.edu 37 10 61022345 61022345 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 61022345 61022345 A C SNP FAM13C ENST00000373868 human ensembl 74_37 -1 known missense c.1085 p.L362R 0.000 NULL NULL - no_errors FAM13C HGNC ENSG00000148541 116 0 0 61 21 25.6098 SLC16A9 0 genome.wustl.edu 37 10 61414261 61414261 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 61414261 61414261 C T SNP SLC16A9 ENST00000395347 human ensembl 74_37 -1 known missense c.523 p.G175S 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A9 HGNC ENSG00000165449 165 0 0 101 19 15.8333 ANK3 0 genome.wustl.edu 37 10 61843307 61843307 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 61843307 61843307 C T SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known silent c.4143 p.Q1381 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 95 0 0 48 14 22.5806 ZNF365 0 genome.wustl.edu 37 10 64425917 64425917 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 64425917 64425917 A C SNP ZNF365 ENST00000410046 human ensembl 74_37 +1 known missense c.1249 p.N417H 0.000 NULL NULL - no_errors ZNF365 HGNC ENSG00000138311 72 0 0 35 3 7.89474 TET1 0 genome.wustl.edu 37 10 70446170 70446170 + Nonsense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 70446170 70446170 C T SNP TET1 ENST00000373644 human ensembl 74_37 +1 known nonsense c.5110 p.Q1704* 1.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 144 0 0 105 16 13.2231 HK1 0 genome.wustl.edu 37 10 71129308 71129308 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 71129308 71129308 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.908 p.G303E 1.000 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 77 0 0 70 6 7.89474 NEUROG3 0 genome.wustl.edu 37 10 71332527 71332527 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 71332527 71332527 G A SNP NEUROG3 ENST00000242462 human ensembl 74_37 -1 known silent c.273 p.R91 0.990 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors NEUROG3 HGNC ENSG00000122859 37 0 0 42 5 10.6383 SEC24C 0 genome.wustl.edu 37 10 75529233 75529233 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 75529233 75529233 G T SNP SEC24C ENST00000339365 human ensembl 74_37 +1 known missense c.2553 p.M851I 1.000 pfam_Sec23/24_helical_dom,superfamily_Sec23/24_helical_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24 - no_errors SEC24C HGNC ENSG00000176986 49 0 0 58 8 12.1212 ITIH2 0 genome.wustl.edu 37 10 7788613 7788613 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 7788613 7788613 C A SNP ITIH2 ENST00000358415 human ensembl 74_37 +1 known missense c.2639 p.P880H 0.988 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH2 HGNC ENSG00000151655 34 0 0 26 5 16.129 MBL1P 0 genome.wustl.edu 37 10 81667509 81667509 + RNA SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 81667509 81667509 A G SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 0.972 - - - no_errors MBL1P HGNC ENSG00000242600 103 0 0 72 16 18.1818 ACTA2 0 genome.wustl.edu 37 10 90708573 90708573 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 90708573 90708573 G A SNP ACTA2 ENST00000224784 human ensembl 74_37 -1 known missense c.115 p.R39C 0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTA2 HGNC ENSG00000107796 146 0 0 141 17 10.7595 IFIT1B 0 genome.wustl.edu 37 10 91143709 91143709 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 91143709 91143709 T C SNP IFIT1B ENST00000371809 human ensembl 74_37 +1 known silent c.639 p.N213 0.968 pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 413 0 0 299 91 23.3333 IDE 0 genome.wustl.edu 37 10 94294397 94294397 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 94294397 94294397 A G SNP IDE ENST00000265986 human ensembl 74_37 -1 known silent c.429 p.S143 1.000 pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 133 0 0 87 23 20.9091 PLCE1 0 genome.wustl.edu 37 10 96013971 96013971 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 96013971 96013971 G A SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known missense c.3304 p.D1102N 1.000 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 54 0 0 52 13 20 NOC3L 0 genome.wustl.edu 37 10 96116929 96116929 + Splice_Site SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 96116929 96116929 A G SNP NOC3L ENST00000371350 human ensembl 74_37 -1 known splice_site c.508+2 e4+2 0.990 - - - no_errors NOC3L HGNC ENSG00000173145 133 1 0.746269 90 14 13.4615 CNTN5 0 genome.wustl.edu 37 11 100211267 100211267 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 100211267 100211267 G A SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known missense c.2803 p.V935I 0.001 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 36 0 0 26 6 18.75 AMPD3 0 genome.wustl.edu 37 11 10483162 10483162 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 10483162 10483162 G T SNP AMPD3 ENST00000396553 human ensembl 74_37 +1 known missense c.96 p.E32D 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD3 HGNC ENSG00000133805 105 0 0 79 24 23.301 MRVI1 0 genome.wustl.edu 37 11 10673666 10673666 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 10673666 10673666 C T SNP MRVI1 ENST00000421747 human ensembl 74_37 -1 known missense c.104 p.R35H 0.049 NULL pfam_MRVI1 - no_errors MRVI1 HGNC ENSG00000072952 23 0 0 25 3 10.7143 ATM 0 genome.wustl.edu 37 11 108216545 108216545 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 108216545 108216545 C T SNP ATM ENST00000278616 human ensembl 74_37 +1 known missense c.8494 p.R2832C 1.000 pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 241 0 0 133 34 20.3593 EXPH5 0 genome.wustl.edu 37 11 108381075 108381075 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 108381075 108381075 G A SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.5159 p.T1720I 0.001 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 164 0 0 154 34 18.0851 RBM7 0 genome.wustl.edu 37 11 114278312 114278312 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 114278312 114278312 C T SNP RBM7 ENST00000540163 human ensembl 74_37 +1 known missense c.584 p.S195L 0.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM7 HGNC ENSG00000076053 107 0 0 75 22 22.6804 KMT2A 0 genome.wustl.edu 37 11 118344459 118344459 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 118344459 118344459 G A SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.2585 p.R862Q 0.998 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 44 0 0 29 12 29.2683 VWA5A 0 genome.wustl.edu 37 11 123994983 123994983 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 123994983 123994983 A G SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.1204 p.S402G 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 52 0 0 49 3 5.76923 OR8D1 0 genome.wustl.edu 37 11 124179741 124179741 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 124179741 124179741 T G SNP OR8D1 ENST00000357821 human ensembl 74_37 -1 known missense c.922 p.K308Q 0.005 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8D1 HGNC ENSG00000196341 82 0 0 55 10 15.3846 ST14 0 genome.wustl.edu 37 11 130066232 130066232 + Splice_Site SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 130066232 130066232 A G SNP ST14 ENST00000278742 human ensembl 74_37 +1 known splice_site c.1114-2 e10-2 1.000 - - - no_errors ST14 HGNC ENSG00000149418 15 0 0 6 2 25 SPON1 0 genome.wustl.edu 37 11 14156984 14156984 + RNA SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 14156984 14156984 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 114 0 0 86 16 15.6863 SPON1 0 genome.wustl.edu 37 11 14156987 14156987 + RNA SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 14156987 14156987 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 116 1 0.854701 79 27 25.4717 ABCC8 0 genome.wustl.edu 37 11 17428671 17428671 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 17428671 17428671 C T SNP ABCC8 ENST00000302539 human ensembl 74_37 -1 known missense c.2929 p.A977T 0.732 superfamily_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC8 HGNC ENSG00000006071 19 0 0 23 8 25.8065 CTSD 0 genome.wustl.edu 37 11 1774897 1774897 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 1774897 1774897 A G SNP CTSD ENST00000236671 human ensembl 74_37 -1 known missense c.1075 p.S359P 0.942 pfam_Aspartic_peptidase,superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors CTSD HGNC ENSG00000117984 38 0 0 51 3 5.55556 SPTY2D1-AS1 0 genome.wustl.edu 37 11 18631308 18631308 + RNA SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 18631308 18631308 C A SNP SPTY2D1-AS1 ENST00000501599 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPTY2D1-AS1 HGNC ENSG00000247595 15 0 0 20 5 20 KCNA4 0 genome.wustl.edu 37 11 30033234 30033234 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 30033234 30033234 T G SNP KCNA4 ENST00000328224 human ensembl 74_37 -1 known missense c.992 p.E331A 1.000 prints_K_chnl_volt-dep_Kv1 pfam_K_chnl_volt-dep_Kv1.4_TID,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv1.4,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv - no_errors KCNA4 HGNC ENSG00000182255 89 0 0 68 20 22.7273 FSHB 0 genome.wustl.edu 37 11 30255240 30255240 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 30255240 30255240 C A SNP FSHB ENST00000254122 human ensembl 74_37 +1 known missense c.283 p.P95T 1.000 pfam_Cys_knot,smart_Gonadotropin_bsu pfam_Cys_knot,smart_Gonadotropin_bsu - no_errors FSHB HGNC ENSG00000131808 77 0 0 67 6 8.21918 TP53I11 0 genome.wustl.edu 37 11 44956568 44956568 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 44956568 44956568 A G SNP TP53I11 ENST00000308212 human ensembl 74_37 -1 known missense c.437 p.V146A 1.000 NULL NULL - no_errors TP53I11 HGNC ENSG00000175274 113 0 0 102 9 8.10811 GYLTL1B 0 genome.wustl.edu 37 11 45949811 45949811 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 45949811 45949811 C T SNP GYLTL1B ENST00000325468 human ensembl 74_37 +1 known missense c.1838 p.A613V 0.989 NULL pfam_Glyco_trans_8 - no_errors GYLTL1B HGNC ENSG00000165905 186 0 0 169 14 7.65027 OR52I1 0 genome.wustl.edu 37 11 4615645 4615645 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 4615645 4615645 G A SNP OR52I1 ENST00000530443 human ensembl 74_37 +1 known missense c.377 p.R126H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52I1 HGNC ENSG00000232268 38 0 0 41 6 12.766 ARHGAP1 0 genome.wustl.edu 37 11 46700719 46700719 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 46700719 46700719 G A SNP ARHGAP1 ENST00000311956 human ensembl 74_37 -1 known silent c.1188 p.F396 0.217 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_CRAL-TRIO_dom,superfamily_Rho_GTPase_activation_prot,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_RhoGAP_dom,pfscan_CRAL-TRIO_dom,pfscan_RhoGAP_dom - no_errors ARHGAP1 HGNC ENSG00000175220 116 0 0 123 29 19.0789 CKAP5 0 genome.wustl.edu 37 11 46829626 46829626 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 46829626 46829626 T C SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known silent c.933 p.K311 0.998 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 347 0 0 234 49 17.3145 SLC39A13 0 genome.wustl.edu 37 11 47431758 47431758 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 47431758 47431758 G A SNP SLC39A13 ENST00000362021 human ensembl 74_37 +1 known missense c.113 p.R38Q 0.531 NULL pfam_ZIP - no_errors SLC39A13 HGNC ENSG00000165915 69 0 0 96 18 15.7895 C1QTNF4 0 genome.wustl.edu 37 11 47611775 47611775 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 47611775 47611775 C T SNP C1QTNF4 ENST00000302514 human ensembl 74_37 -1 known silent c.588 p.P196 0.940 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,prints_C1q,pfscan_C1q - no_errors C1QTNF4 HGNC ENSG00000172247 10 0 0 11 4 26.6667 OR4S1 0 genome.wustl.edu 37 11 48328082 48328082 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 48328082 48328082 A G SNP OR4S1 ENST00000319988 human ensembl 74_37 +1 known missense c.308 p.H103R 0.974 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4S1 HGNC ENSG00000176555 124 0 0 112 10 8.19672 OR51B6 0 genome.wustl.edu 37 11 5373205 5373205 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 5373205 5373205 A G SNP OR51B6 ENST00000380219 human ensembl 74_37 +1 known silent c.468 p.P156 0.205 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 131 0 0 101 11 9.82143 OR51I2 0 genome.wustl.edu 37 11 5475541 5475541 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 5475541 5475541 C A SNP OR51I2 ENST00000341449 human ensembl 74_37 +1 known missense c.823 p.L275I 0.480 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51I2 HGNC ENSG00000187918 230 0 0 174 20 10.3093 OR8I2 0 genome.wustl.edu 37 11 55861106 55861106 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 55861106 55861106 T C SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.323 p.V108A 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8I2 HGNC ENSG00000172154 158 0 0 107 30 21.8978 OR52B6 0 genome.wustl.edu 37 11 5602431 5602431 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 5602431 5602431 T A SNP OR52B6 ENST00000345043 human ensembl 74_37 +1 known missense c.325 p.Y109N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B6 HGNC ENSG00000187747 110 0 0 103 21 16.9355 OR8U1 0 genome.wustl.edu 37 11 56143123 56143123 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 56143123 56143123 G T SNP OR8U1 ENST00000302270 human ensembl 74_37 +1 known missense c.24 p.Q8H 0.001 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8U1 HGNC ENSG00000172199 123 1 0.806452 96 16 14.2857 RASSF7 0 genome.wustl.edu 37 11 563636 563636 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 563636 563636 G T SNP RASSF7 ENST00000344375 human ensembl 74_37 +1 known missense c.1113 p.Q371H 0.034 NULL pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc - no_errors RASSF7 HGNC ENSG00000099849 26 0 0 22 8 26.6667 SLC43A3 0 genome.wustl.edu 37 11 57185246 57185246 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 57185246 57185246 G T SNP SLC43A3 ENST00000352187 human ensembl 74_37 -1 known missense c.646 p.P216T 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A3 HGNC ENSG00000134802 69 0 0 75 9 10.7143 OR52E4 0 genome.wustl.edu 37 11 5906226 5906226 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 5906226 5906226 G A SNP OR52E4 ENST00000316987 human ensembl 74_37 +1 known missense c.704 p.R235Q 0.009 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR52E4 HGNC ENSG00000180974 161 0 0 174 21 10.7692 TCN1 0 genome.wustl.edu 37 11 59622135 59622135 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 59622135 59622135 T C SNP TCN1 ENST00000257264 human ensembl 74_37 -1 known missense c.1111 p.T371A 0.007 NULL pfam_Cbl-bd_transpt_euk - no_errors TCN1 HGNC ENSG00000134827 109 0 0 90 8 8.16327 TMEM109 0 genome.wustl.edu 37 11 60689416 60689416 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 60689416 60689416 G A SNP TMEM109 ENST00000227525 human ensembl 74_37 +1 known missense c.511 p.G171S 0.939 NULL NULL - no_errors TMEM109 HGNC ENSG00000110108 115 0 0 128 11 7.91367 INCENP 0 genome.wustl.edu 37 11 61912511 61912511 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 61912511 61912511 C T SNP INCENP ENST00000394818 human ensembl 74_37 +1 known missense c.1663 p.R555C 1.000 NULL pfam_INCENP_N,pfam_Inner_centromere_prot_ARK-bd - no_errors INCENP HGNC ENSG00000149503 35 0 0 46 10 17.8571 CCKBR 0 genome.wustl.edu 37 11 6292358 6292358 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 6292358 6292358 C T SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.1136 p.T379M 0.945 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 83 0 0 93 21 18.4211 ATL3 0 genome.wustl.edu 37 11 63398579 63398579 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 63398579 63398579 C A SNP ATL3 ENST00000332645 human ensembl 74_37 -1 known missense c.1553 p.R518M 0.052 NULL pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors ATL3 HGNC ENSG00000184743 93 0 0 96 8 7.69231 ATL3 0 genome.wustl.edu 37 11 63398938 63398938 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 63398938 63398938 A C SNP ATL3 ENST00000332645 human ensembl 74_37 -1 known missense c.1194 p.C398W 1.000 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors ATL3 HGNC ENSG00000184743 39 0 0 25 12 32.4324 PLCB3 0 genome.wustl.edu 37 11 64028918 64028918 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 64028918 64028918 T G SNP PLCB3 ENST00000279230 human ensembl 74_37 +1 known missense c.1778 p.L593R 0.778 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 77 0 0 78 20 20.4082 DNHD1 0 genome.wustl.edu 37 11 6520167 6520167 + Missense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 6520167 6520167 A T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.722 p.E241V 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 79 0 0 52 10 16.129 MUS81 0 genome.wustl.edu 37 11 65629422 65629422 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 65629422 65629422 C T SNP MUS81 ENST00000308110 human ensembl 74_37 +1 known missense c.356 p.P119L 0.001 NULL pfam_ERCC4_domain,superfamily_Restrct_endonuc-II-like,superfamily_DNA_pol_b-like_N,smart_ERCC4_domain - no_errors MUS81 HGNC ENSG00000172732 18 0 0 15 6 28.5714 RBM4 0 genome.wustl.edu 37 11 66411100 66411100 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 66411100 66411100 C T SNP RBM4 ENST00000310092 human ensembl 74_37 +1 known missense c.592 p.R198C 1.000 NULL pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4 HGNC ENSG00000173933 68 0 0 58 22 27.5 ADRBK1 0 genome.wustl.edu 37 11 67048584 67048584 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 67048584 67048584 C T SNP ADRBK1 ENST00000308595 human ensembl 74_37 +1 known silent c.576 p.S192 0.989 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RGS_dom,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal_superfam,pfscan_Prot_kinase_dom,prints_GPCR_kinase - no_errors ADRBK1 HGNC ENSG00000173020 75 0 0 61 19 23.75 ANO1 0 genome.wustl.edu 37 11 70009450 70009450 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 70009450 70009450 A C SNP ANO1 ENST00000316296 human ensembl 74_37 +1 known missense c.1780 p.T594P 0.652 NULL pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 43 0 0 48 3 5.88235 SLCO2B1 0 genome.wustl.edu 37 11 74876908 74876908 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 74876908 74876908 G T SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known missense c.362 p.G121V 1.000 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 192 0 0 201 11 5.18868 USP35 0 genome.wustl.edu 37 11 77916960 77916960 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 77916960 77916960 G A SNP USP35 ENST00000529308 human ensembl 74_37 +1 known missense c.1270 p.E424K 1.000 superfamily_ARM-type_fold pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,pfscan_Peptidase_C19/C67 - no_errors USP35 HGNC ENSG00000118369 280 0 0 299 16 5.07937 GAB2 0 genome.wustl.edu 37 11 77936163 77936163 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 77936163 77936163 G A SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known silent c.1293 p.G431 0.022 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 87 0 0 98 9 8.41121 CCDC89 0 genome.wustl.edu 37 11 85396904 85396904 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 85396904 85396904 G A SNP CCDC89 ENST00000316398 human ensembl 74_37 -1 known silent c.270 p.R90 1.000 NULL NULL - no_errors CCDC89 HGNC ENSG00000179071 62 0 0 58 8 12.1212 NAALAD2 0 genome.wustl.edu 37 11 89883713 89883713 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 89883713 89883713 G T SNP NAALAD2 ENST00000534061 human ensembl 74_37 +1 known missense c.547 p.G183C 0.938 pfam_Protease-assoc_domain pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors NAALAD2 HGNC ENSG00000077616 125 0 0 42 16 27.5862 FAT3 0 genome.wustl.edu 37 11 92087030 92087030 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 92087030 92087030 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1752 p.Q584H 0.999 superfamily_Cadherin-like pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 62 0 0 36 13 26.5306 GNPTAB 0 genome.wustl.edu 37 12 102164266 102164266 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 102164266 102164266 C T SNP GNPTAB ENST00000299314 human ensembl 74_37 -1 known missense c.1031 p.R344Q 1.000 pfam_DUF3184 pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_hand_dom,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 49 0 0 41 8 16.3265 DRAM1 0 genome.wustl.edu 37 12 102301997 102301997 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 102301997 102301997 G A SNP DRAM1 ENST00000258534 human ensembl 74_37 +1 known missense c.376 p.A126T 0.959 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM1 HGNC ENSG00000136048 158 1 0.628931 180 10 5.26316 STAB2 0 genome.wustl.edu 37 12 104155080 104155080 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 104155080 104155080 G A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known silent c.7251 p.T2417 0.950 superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 143 0 0 111 31 21.831 APPL2 0 genome.wustl.edu 37 12 105601755 105601755 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 105601755 105601755 A G SNP APPL2 ENST00000549974 human ensembl 74_37 -1 known missense c.110 p.M37T 0.992 NULL NULL - no_errors APPL2 HGNC ENSG00000136044 64 0 0 58 28 32.5581 ACACB 0 genome.wustl.edu 37 12 109644517 109644517 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 109644517 109644517 T C SNP ACACB ENST00000338432 human ensembl 74_37 +1 known silent c.2916 p.A972 0.002 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 298 0 0 253 14 5.24345 ACACB 0 genome.wustl.edu 37 12 109677741 109677741 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 109677741 109677741 A C SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.4769 p.N1590T 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 82 0 0 96 7 6.79612 ATXN2 0 genome.wustl.edu 37 12 111923108 111923108 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 111923108 111923108 T C SNP ATXN2 ENST00000377617 human ensembl 74_37 -1 known missense c.2965 p.M989V 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2 HGNC ENSG00000204842 242 0 0 139 65 31.8627 OAS1 0 genome.wustl.edu 37 12 113348918 113348918 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 113348918 113348918 A G SNP OAS1 ENST00000445409 human ensembl 74_37 +1 known missense c.532 p.T178A 0.000 pfam_2-5-oligoAdlate_synth_1_dom2/C pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS1 HGNC ENSG00000089127 83 0 0 94 8 7.84314 RASAL1 0 genome.wustl.edu 37 12 113543607 113543607 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 113543607 113543607 G A SNP RASAL1 ENST00000546530 human ensembl 74_37 -1 known missense c.1745 p.A582V 0.000 pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RasGAP,pfam_C2_dom,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_C2_dom,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASAL1 HGNC ENSG00000111344 112 0 0 98 9 8.41121 KSR2 0 genome.wustl.edu 37 12 118105367 118105367 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 118105367 118105367 G A SNP KSR2 ENST00000339824 human ensembl 74_37 -1 known silent c.1083 p.S361 0.999 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors KSR2 HGNC ENSG00000171435 35 0 0 26 8 23.5294 CIT 0 genome.wustl.edu 37 12 120142226 120142226 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 120142226 120142226 G T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.5120 p.P1707H 1.000 pfam_Citron,smart_Citron,pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 95 0 0 95 5 5 LRP6 0 genome.wustl.edu 37 12 12278295 12278295 + Nonsense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 12278295 12278295 G A SNP LRP6 ENST00000261349 human ensembl 74_37 -1 known nonsense c.4384 p.R1462* 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 80 0 0 32 3 8.57143 KNTC1 0 genome.wustl.edu 37 12 123082320 123082320 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 123082320 123082320 T C SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known silent c.4398 p.I1466 0.938 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 85 0 0 81 12 12.9032 HIP1R 0 genome.wustl.edu 37 12 123339495 123339495 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 123339495 123339495 C T SNP HIP1R ENST00000253083 human ensembl 74_37 +1 known silent c.762 p.H254 0.169 pfam_ANTH_dom pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1R HGNC ENSG00000130787 94 0 0 115 37 24.3421 DNAH10 0 genome.wustl.edu 37 12 124297909 124297909 + Nonsense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 124297909 124297909 C T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known nonsense c.2989 p.R997* 0.923 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 143 0 0 71 44 38.2609 NCOR2 0 genome.wustl.edu 37 12 124862855 124862855 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 124862855 124862855 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.2095 p.V699M 0.433 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 57 0 0 65 29 30.8511 TMEM132D 0 genome.wustl.edu 37 12 130184785 130184785 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 130184785 130184785 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.538 p.R180W 0.008 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 36 0 0 42 8 16 GRIN2B 0 genome.wustl.edu 37 12 13716547 13716547 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 13716547 13716547 G A SNP GRIN2B ENST00000609686 human ensembl 74_37 -1 known missense c.3625 p.R1209W 0.147 pfam_NMDAR2_C pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2B HGNC ENSG00000273079 98 0 0 111 16 12.5984 SLCO1B7 0 genome.wustl.edu 37 12 21207464 21207464 + Nonsense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 21207464 21207464 A T SNP SLCO1B7 ENST00000554957 human ensembl 74_37 +1 known nonsense c.1576 p.R526* 0.987 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1B7 HGNC ENSG00000205754 117 0 0 72 10 12.1951 SOX5 0 genome.wustl.edu 37 12 23728680 23728680 + Silent SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 23728680 23728680 A C SNP SOX5 ENST00000451604 human ensembl 74_37 -1 known silent c.1257 p.A419 0.999 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX5 HGNC ENSG00000134532 175 0 0 132 12 8.33333 YARS2 0 genome.wustl.edu 37 12 32908133 32908133 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 32908133 32908133 C T SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known missense c.676 p.A226T 1.000 pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase pfam_aa-tRNA-synth_Ic,prints_Tyr-tRNA-ligase,tigrfam_Tyr-tRNA-ligase - no_errors YARS2 HGNC ENSG00000139131 161 1 0.617284 177 45 20.2703 SYT10 0 genome.wustl.edu 37 12 33532785 33532785 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 33532785 33532785 G A SNP SYT10 ENST00000228567 human ensembl 74_37 -1 known silent c.1482 p.H494 1.000 superfamily_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT10 HGNC ENSG00000110975 113 0 0 105 6 5.40541 LRRK2 0 genome.wustl.edu 37 12 40677742 40677742 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 40677742 40677742 A G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known silent c.2307 p.Q769 0.974 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 123 0 0 70 25 26.3158 LRRK2 0 genome.wustl.edu 37 12 40734203 40734203 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 40734203 40734203 G A SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.6056 p.G2019D 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 178 0 0 131 8 5.7554 KMT2D 0 genome.wustl.edu 37 12 49444339 49444339 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 49444339 49444339 G A SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.3032 p.P1011L 0.026 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 71 0 0 61 5 7.57576 KCNH3 0 genome.wustl.edu 37 12 49943878 49943878 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 49943878 49943878 C A SNP KCNH3 ENST00000257981 human ensembl 74_37 +1 known missense c.1684 p.P562T 1.000 superfamily_cNMP-bd-like pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_cNMP-bd_dom,pfam_PAS_4,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH3 HGNC ENSG00000135519 27 0 0 34 5 12.8205 RACGAP1 0 genome.wustl.edu 37 12 50399110 50399110 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 50399110 50399110 G A SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known silent c.354 p.S118 0.021 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 102 0 0 67 38 36.1905 ACVR1B 0 genome.wustl.edu 37 12 52374774 52374774 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 52374774 52374774 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.602 p.R201H 1.000 pfam_TGF_beta_rcpt_GS,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 69 0 0 56 7 11.1111 KRT75 0 genome.wustl.edu 37 12 52826980 52826980 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 52826980 52826980 C T SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known silent c.555 p.Q185 1.000 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 119 0 0 110 11 9.09091 NCKAP1L 0 genome.wustl.edu 37 12 54936413 54936413 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 54936413 54936413 T C SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.3328 p.Y1110H 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 183 0 0 109 33 23.2394 OR6C76 0 genome.wustl.edu 37 12 55820443 55820443 + Silent SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 55820443 55820443 A C SNP OR6C76 ENST00000328314 human ensembl 74_37 +1 known silent c.406 p.R136 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6C76 HGNC ENSG00000185821 158 0 0 129 9 6.52174 COQ10A 0 genome.wustl.edu 37 12 56662937 56662937 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 56662937 56662937 C T SNP COQ10A ENST00000308197 human ensembl 74_37 +1 known missense c.376 p.R126C 1.000 pfam_Polyket_cyc pfam_Polyket_cyc - no_errors COQ10A HGNC ENSG00000135469 143 0 0 101 48 32.2148 AVIL 0 genome.wustl.edu 37 12 58204205 58204205 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 58204205 58204205 G A SNP AVIL ENST00000257861 human ensembl 74_37 -1 known missense c.688 p.R230C 0.008 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 95 0 0 93 8 7.92079 SRGAP1 0 genome.wustl.edu 37 12 64488720 64488720 + Silent SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 64488720 64488720 A T SNP SRGAP1 ENST00000355086 human ensembl 74_37 +1 known silent c.1548 p.G516 0.959 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP1 HGNC ENSG00000196935 184 0 0 129 11 7.85714 XPOT 0 genome.wustl.edu 37 12 64812808 64812808 + Silent SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 64812808 64812808 C G SNP XPOT ENST00000332707 human ensembl 74_37 +1 known silent c.423 p.L141 0.776 pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors XPOT HGNC ENSG00000184575 216 0 0 137 8 5.51724 LAG3 0 genome.wustl.edu 37 12 6882045 6882045 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 6882045 6882045 G A SNP LAG3 ENST00000203629 human ensembl 74_37 +1 known silent c.27 p.L9 0.102 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors LAG3 HGNC ENSG00000089692 38 0 0 28 6 17.6471 GLIPR1L2 0 genome.wustl.edu 37 12 75784952 75784952 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 75784952 75784952 C A SNP GLIPR1L2 ENST00000550916 human ensembl 74_37 +1 known missense c.56 p.A19E 0.000 NULL pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors GLIPR1L2 HGNC ENSG00000180481 57 0 0 45 16 26.2295 LIN7A 0 genome.wustl.edu 37 12 81331469 81331469 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 81331469 81331469 C T SNP LIN7A ENST00000552864 human ensembl 74_37 -1 known silent c.33 p.T11 0.998 NULL pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ - no_errors LIN7A HGNC ENSG00000111052 16 0 0 20 4 16.6667 LRRIQ1 0 genome.wustl.edu 37 12 85626524 85626524 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 85626524 85626524 T C SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known missense c.5006 p.V1669A 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 86 0 0 36 12 25 ATP2B1 0 genome.wustl.edu 37 12 90010761 90010761 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 90010761 90010761 G A SNP ATP2B1 ENST00000261173 human ensembl 74_37 -1 known missense c.1885 p.R629C 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Ca-transp_plasma pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Ca-transp_plasma,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2B1 HGNC ENSG00000070961 147 0 0 99 8 7.47664 VEZT 0 genome.wustl.edu 37 12 95656840 95656840 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 95656840 95656840 G A SNP VEZT ENST00000436874 human ensembl 74_37 +1 known silent c.417 p.L139 1.000 NULL NULL - no_errors VEZT HGNC ENSG00000028203 316 0 0 254 73 22.3242 ZMYM5 0 genome.wustl.edu 37 13 20411699 20411699 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 20411699 20411699 C T SNP ZMYM5 ENST00000382905 human ensembl 74_37 -1 known missense c.1135 p.V379I 0.000 NULL pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM5 HGNC ENSG00000132950 132 1 0.75188 114 14 10.9375 C1QTNF9B 0 genome.wustl.edu 37 13 24465970 24465970 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 24465970 24465970 T C SNP C1QTNF9B ENST00000382137 human ensembl 74_37 -1 known missense c.460 p.M154V 0.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF9B HGNC ENSG00000205863 45 0 0 53 13 19.697 MTMR6 0 genome.wustl.edu 37 13 25825905 25825905 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 25825905 25825905 C A SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1487 p.R496M 1.000 NULL pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 84 0 0 62 14 18.4211 ATP8A2 0 genome.wustl.edu 37 13 26043196 26043196 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 26043196 26043196 C T SNP ATP8A2 ENST00000381655 human ensembl 74_37 +1 known missense c.158 p.A53V 0.998 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8A2 HGNC ENSG00000132932 46 0 0 57 9 13.6364 FRY 0 genome.wustl.edu 37 13 32761728 32761728 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 32761728 32761728 G T SNP FRY ENST00000380250 human ensembl 74_37 +1 known missense c.3526 p.G1176C 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 116 0 0 71 48 40.3361 VWA8 0 genome.wustl.edu 37 13 42179380 42179380 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 42179380 42179380 G A SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.4910 p.A1637V 1.000 NULL pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 122 0 0 117 23 16.4286 TSC22D1 0 genome.wustl.edu 37 13 45147869 45147869 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 45147869 45147869 G T SNP TSC22D1 ENST00000458659 human ensembl 74_37 -1 known missense c.2342 p.A781D 0.989 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 150 0 0 156 12 7.14286 CDADC1 0 genome.wustl.edu 37 13 49865876 49865876 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 49865876 49865876 C T SNP CDADC1 ENST00000251108 human ensembl 74_37 +1 known missense c.1528 p.R510C 0.968 NULL pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors CDADC1 HGNC ENSG00000102543 106 0 0 123 25 16.8919 TBC1D4 0 genome.wustl.edu 37 13 75898529 75898529 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 75898529 75898529 G A SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.2042 p.S681L 0.019 NULL pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 41 0 0 32 12 27.2727 MYCBP2 0 genome.wustl.edu 37 13 77732134 77732134 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 77732134 77732134 T C SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.6708 p.E2236 0.995 superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 104 1 0.952381 67 12 15.1899 EDNRB 0 genome.wustl.edu 37 13 78492668 78492668 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 78492668 78492668 G A SNP EDNRB ENST00000334286 human ensembl 74_37 -1 known missense c.41 p.A14V 0.993 prints_ETB_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt - no_errors EDNRB HGNC ENSG00000136160 40 0 0 50 19 27.5362 SLITRK5 0 genome.wustl.edu 37 13 88329399 88329399 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 88329399 88329399 C A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.1756 p.L586I 0.988 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 209 1 0.47619 195 49 20.082 STK24 0 genome.wustl.edu 37 13 99118674 99118674 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 99118674 99118674 G T SNP STK24 ENST00000376547 human ensembl 74_37 -1 known missense c.775 p.L259I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STK24 HGNC ENSG00000102572 98 0 0 65 10 13.3333 WDR25 0 genome.wustl.edu 37 14 100934422 100934422 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 100934422 100934422 G T SNP WDR25 ENST00000335290 human ensembl 74_37 +1 known missense c.887 p.R296L 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR25 HGNC ENSG00000176473 160 0 0 145 48 24.8705 SNORD114-1 0 genome.wustl.edu 37 14 101416228 101416228 + RNA SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 101416228 101416228 A T SNP SNORD114-1 ENST00000362705 human ensembl 74_37 +1 known rna NULL NULL 0.513 - - - no_errors SNORD114-1 HGNC ENSG00000199575 53 0 0 27 3 10 RCOR1 0 genome.wustl.edu 37 14 103174857 103174857 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 103174857 103174857 C T SNP RCOR1 ENST00000262241 human ensembl 74_37 +1 known missense c.716 p.T239M 0.994 superfamily_Homeodomain-like,smart_SANT/Myb pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom,prints_Antifreeze_1 - no_errors RCOR1 HGNC ENSG00000089902 322 1 0.309598 234 30 11.3636 GPR132 0 genome.wustl.edu 37 14 105517586 105517586 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 105517586 105517586 C T SNP GPR132 ENST00000329797 human ensembl 74_37 -1 known silent c.888 p.L296 0.323 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_G2A_lysphc_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR132 HGNC ENSG00000183484 37 0 0 57 5 8.06452 PACS2 0 genome.wustl.edu 37 14 105849215 105849215 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 105849215 105849215 G A SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known silent c.1590 p.A530 0.014 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 31 0 0 23 6 20.6897 OR11H4 0 genome.wustl.edu 37 14 20711372 20711372 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 20711372 20711372 A G SNP OR11H4 ENST00000315409 human ensembl 74_37 +1 known missense c.422 p.Q141R 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H4 HGNC ENSG00000176198 145 0 0 124 24 16.2162 METTL17 0 genome.wustl.edu 37 14 21460309 21460309 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 21460309 21460309 C T SNP METTL17 ENST00000382985 human ensembl 74_37 +1 known missense c.391 p.R131C 0.207 NULL pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11 - no_errors METTL17 HGNC ENSG00000165792 205 0 0 156 46 22.7723 TM9SF1 0 genome.wustl.edu 37 14 24663934 24663934 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 24663934 24663934 G A SNP TM9SF1 ENST00000556387 human ensembl 74_37 -1 known missense c.919 p.R307W 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 361 0 0 391 26 6.23501 GZMH 0 genome.wustl.edu 37 14 25078817 25078817 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 25078817 25078817 C A SNP GZMH ENST00000216338 human ensembl 74_37 -1 known missense c.3 p.M1I 0.966 NULL pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors GZMH HGNC ENSG00000100450 110 0 0 85 28 24.7788 NPAS3 0 genome.wustl.edu 37 14 34029327 34029327 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 34029327 34029327 T C SNP NPAS3 ENST00000356141 human ensembl 74_37 +1 known missense c.469 p.S157P 1.000 pfam_PAS_fold,smart_PAS,pfscan_PAS pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pfscan_PAS,pfscan_bHLH_dom - no_errors NPAS3 HGNC ENSG00000151322 53 0 0 31 6 16.2162 PSMC6 0 genome.wustl.edu 37 14 53194224 53194224 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 53194224 53194224 C T SNP PSMC6 ENST00000445930 human ensembl 74_37 +1 known silent c.1101 p.F367 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC6 HGNC ENSG00000100519 52 0 0 28 8 22.2222 WDHD1 0 genome.wustl.edu 37 14 55477052 55477052 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 55477052 55477052 C T SNP WDHD1 ENST00000360586 human ensembl 74_37 -1 known missense c.316 p.G106S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF3639,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_box_dom,smart_WD40_repeat,smart_HMG_box_dom,pfscan_HMG_box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 163 0 0 87 35 28.6885 C14orf37 0 genome.wustl.edu 37 14 58605156 58605156 + Silent SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 58605156 58605156 G T SNP C14orf37 ENST00000267485 human ensembl 74_37 -1 known silent c.921 p.A307 0.003 NULL NULL - no_errors C14orf37 HGNC ENSG00000139971 176 0 0 142 41 22.4044 ARG2 0 genome.wustl.edu 37 14 68086712 68086712 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 68086712 68086712 C T SNP ARG2 ENST00000261783 human ensembl 74_37 +1 known silent c.18 p.S6 0.007 NULL pfam_Ureohydrolase,prints_Ureohydrolase,tigrfam_Arginase - no_errors ARG2 HGNC ENSG00000081181 18 0 0 18 4 18.1818 RDH11 0 genome.wustl.edu 37 14 68159192 68159192 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 68159192 68159192 A G SNP RDH11 ENST00000381346 human ensembl 74_37 -1 known silent c.312 p.T104 0.990 pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH11 HGNC ENSG00000072042 205 0 0 181 32 15.0235 ADAM20 0 genome.wustl.edu 37 14 70990275 70990275 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 70990275 70990275 A G SNP ADAM20 ENST00000256389 human ensembl 74_37 -1 known silent c.1350 p.Y450 0.000 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_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM20 HGNC ENSG00000134007 169 0 0 108 36 25 SIPA1L1 0 genome.wustl.edu 37 14 72171482 72171482 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 72171482 72171482 G A SNP SIPA1L1 ENST00000555818 human ensembl 74_37 +1 known missense c.3691 p.E1231K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP_dom,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP_dom - no_errors SIPA1L1 HGNC ENSG00000197555 56 0 0 21 7 25 NRXN3 0 genome.wustl.edu 37 14 79746738 79746738 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 79746738 79746738 G A SNP NRXN3 ENST00000428277 human ensembl 74_37 +1 known missense c.104 p.S35N 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 187 0 0 165 32 16.2437 FOXN3 0 genome.wustl.edu 37 14 89747303 89747303 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 89747303 89747303 G T SNP FOXN3 ENST00000261302 human ensembl 74_37 -1 known missense c.736 p.L246I 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN3 HGNC ENSG00000053254 40 0 0 24 9 27.2727 NRDE2 0 genome.wustl.edu 37 14 90755357 90755357 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 90755357 90755357 G A SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.2362 p.H788Y 0.994 NULL pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 319 0 0 239 76 24.127 NRDE2 0 genome.wustl.edu 37 14 90767681 90767681 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 90767681 90767681 C T SNP NRDE2 ENST00000354366 human ensembl 74_37 -1 known missense c.1447 p.A483T 1.000 pfam_NRDE-2 pfam_NRDE-2 - no_errors NRDE2 HGNC ENSG00000119720 52 0 0 51 4 7.27273 CLMN 0 genome.wustl.edu 37 14 95786119 95786119 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 95786119 95786119 T C SNP CLMN ENST00000298912 human ensembl 74_37 -1 known missense c.11 p.H4R 1.000 NULL pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors CLMN HGNC ENSG00000165959 32 0 0 42 7 14.2857 ATG2B 0 genome.wustl.edu 37 14 96800759 96800759 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 96800759 96800759 G A SNP ATG2B ENST00000359933 human ensembl 74_37 -1 known missense c.1004 p.A335V 1.000 NULL pfam_Autophagy-rel_C - no_errors ATG2B HGNC ENSG00000066739 92 0 0 49 4 7.54717 TM2D3 0 genome.wustl.edu 37 15 102182698 102182698 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 102182698 102182698 C A SNP TM2D3 ENST00000333202 human ensembl 74_37 -1 known missense c.728 p.G243V 1.000 NULL pfam_TM2 - no_errors TM2D3 HGNC ENSG00000184277 148 0 0 110 33 23.0769 HERC2P3 0 genome.wustl.edu 37 15 20649514 20649514 + RNA SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 20649514 20649514 G T SNP HERC2P3 ENST00000426501 human ensembl 74_37 -1 known rna NULL NULL 0.545 - - - no_errors HERC2P3 HGNC ENSG00000180229 169 0 0 207 23 10 MKRN3 0 genome.wustl.edu 37 15 23811706 23811706 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 23811706 23811706 G A SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.777 p.M259I 0.001 smart_Znf_CCCH pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 73 0 0 70 18 20.4545 MKRN3 0 genome.wustl.edu 37 15 23812005 23812005 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 23812005 23812005 A C SNP MKRN3 ENST00000314520 human ensembl 74_37 +1 known missense c.1076 p.K359T 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_CCCH,smart_Znf_RING,pfscan_Znf_RING - no_errors MKRN3 HGNC ENSG00000179455 128 1 0.775194 94 13 12.1495 NPAP1 0 genome.wustl.edu 37 15 24921372 24921372 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 24921372 24921372 A G SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.358 p.S120G 0.000 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 63 0 0 80 6 6.97674 NPAP1 0 genome.wustl.edu 37 15 24922571 24922571 + Missense_Mutation SNP G G C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 24922571 24922571 G C SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1557 p.M519I 0.028 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 253 0 0 238 36 13.1387 NPAP1 0 genome.wustl.edu 37 15 24922914 24922914 + Missense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 24922914 24922914 A T SNP NPAP1 ENST00000329468 human ensembl 74_37 +1 known missense c.1900 p.S634C 0.001 NULL NULL - no_errors NPAP1 HGNC ENSG00000185823 139 0 0 118 29 19.7279 TJP1 0 genome.wustl.edu 37 15 30010323 30010323 + Splice_Site SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 30010323 30010323 C A SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known splice_site c.3877-1 e22-1 1.000 - - - no_errors TJP1 HGNC ENSG00000104067 170 0 0 131 35 21.0843 CHRNA7 0 genome.wustl.edu 37 15 32460281 32460281 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 32460281 32460281 G A SNP CHRNA7 ENST00000454250 human ensembl 74_37 +1 known silent c.1218 p.P406 0.927 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 69 0 0 92 17 15.5963 IVD 0 genome.wustl.edu 37 15 40707611 40707611 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 40707611 40707611 C T SNP IVD ENST00000487418 human ensembl 74_37 +1 known missense c.899 p.A300V 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors IVD HGNC ENSG00000128928 39 0 0 39 4 9.30233 VPS18 0 genome.wustl.edu 37 15 41192156 41192156 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 41192156 41192156 C A SNP VPS18 ENST00000220509 human ensembl 74_37 +1 known silent c.1140 p.A380 1.000 pfam_Pep3_Vps18 pfam_Pep3_Vps18,pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold - no_errors VPS18 HGNC ENSG00000104142 77 0 0 95 18 15.9292 DLL4 0 genome.wustl.edu 37 15 41228487 41228487 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 41228487 41228487 C T SNP DLL4 ENST00000249749 human ensembl 74_37 +1 known silent c.1302 p.G434 0.618 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL4 HGNC ENSG00000128917 14 0 0 16 6 27.2727 RPAP1 0 genome.wustl.edu 37 15 41819655 41819655 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 41819655 41819655 G A SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.1577 p.P526L 1.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 111 0 0 86 23 21.1009 RPAP1 0 genome.wustl.edu 37 15 41822163 41822163 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 41822163 41822163 C T SNP RPAP1 ENST00000304330 human ensembl 74_37 -1 known missense c.958 p.V320M 0.000 NULL pfam_RNA_pol_II_AP1_C,pfam_RNA_pol_II_AP1_N,superfamily_ARM-type_fold - no_errors RPAP1 HGNC ENSG00000103932 31 0 0 33 4 10.8108 TGM5 0 genome.wustl.edu 37 15 43531359 43531359 + Splice_Site SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 43531359 43531359 A G SNP TGM5 ENST00000220420 human ensembl 74_37 -1 known splice_site c.1105+2 e8+2 1.000 - - - no_errors TGM5 HGNC ENSG00000104055 65 0 0 73 19 20.6522 B2M 0 genome.wustl.edu 37 15 45003747 45003747 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 45003747 45003747 G A SNP B2M ENST00000544417 human ensembl 74_37 +1 known missense c.3 p.M1I 0.701 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 63 0 0 69 14 16.8675 SEMA6D 0 genome.wustl.edu 37 15 48063126 48063126 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 48063126 48063126 A G SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known missense c.2366 p.K789R 1.000 NULL 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 SEMA6D HGNC ENSG00000137872 83 0 0 62 27 30.3371 FBN1 0 genome.wustl.edu 37 15 48780642 48780642 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 48780642 48780642 C T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.3131 p.C1044Y 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 135 1 0.735294 101 29 22.3077 USP50 0 genome.wustl.edu 37 15 50836866 50836866 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 50836866 50836866 T C SNP USP50 ENST00000532404 human ensembl 74_37 -1 known missense c.166 p.N56D 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP50 HGNC ENSG00000170236 36 0 0 42 3 6.66667 NEDD4 0 genome.wustl.edu 37 15 56144622 56144622 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 56144622 56144622 C A SNP NEDD4 ENST00000508342 human ensembl 74_37 -1 known missense c.2403 p.Q801H 1.000 superfamily_WW_dom pfam_HECT,pfam_WW_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_WW_dom - no_errors NEDD4 HGNC ENSG00000069869 69 0 0 48 5 9.43396 POLR2M 0 genome.wustl.edu 37 15 58001264 58001264 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 58001264 58001264 T C SNP POLR2M ENST00000299638 human ensembl 74_37 +1 known missense c.466 p.S156P 0.000 NULL NULL - no_errors POLR2M HGNC ENSG00000255529 40 0 0 39 8 17.0213 RNF111 0 genome.wustl.edu 37 15 59368267 59368267 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 59368267 59368267 A G SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.1801 p.I601V 0.959 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 111 0 0 121 23 15.9722 DAPK2 0 genome.wustl.edu 37 15 64222642 64222642 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 64222642 64222642 A G SNP DAPK2 ENST00000261891 human ensembl 74_37 -1 known missense c.596 p.V199A 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DAPK2 HGNC ENSG00000035664 90 0 0 56 14 20 MAP2K1 0 genome.wustl.edu 37 15 66737006 66737006 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 66737006 66737006 C A SNP MAP2K1 ENST00000307102 human ensembl 74_37 +1 known missense c.529 p.L177M 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP2K1 HGNC ENSG00000169032 135 0 0 100 11 9.90991 IQCH 0 genome.wustl.edu 37 15 67664873 67664873 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 67664873 67664873 G A SNP IQCH ENST00000335894 human ensembl 74_37 +1 known missense c.1178 p.R393H 0.019 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCH HGNC ENSG00000103599 204 0 0 137 32 18.9349 PKM 0 genome.wustl.edu 37 15 72499193 72499193 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 72499193 72499193 C T SNP PKM ENST00000319622 human ensembl 74_37 -1 known missense c.1016 p.R339H 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKM HGNC ENSG00000067225 37 0 0 36 10 21.7391 UBL7 0 genome.wustl.edu 37 15 74741564 74741564 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 74741564 74741564 G A SNP UBL7 ENST00000361351 human ensembl 74_37 -1 known missense c.845 p.P282L 0.998 NULL pfam_Ubiquitin_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_Ubiquitin_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBL7 HGNC ENSG00000138629 68 0 0 62 13 17.3333 LMAN1L 0 genome.wustl.edu 37 15 75108840 75108840 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 75108840 75108840 G A SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known missense c.403 p.G135R 0.998 pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 126 0 0 117 22 15.8273 CSPG4 0 genome.wustl.edu 37 15 75970141 75970141 + Silent SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 75970141 75970141 G T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known silent c.5037 p.S1679 0.957 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 86 0 0 110 20 15.3846 CSPG4 0 genome.wustl.edu 37 15 75979870 75979870 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 75979870 75979870 C T SNP CSPG4 ENST00000308508 human ensembl 74_37 -1 known missense c.3536 p.R1179Q 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G - no_errors CSPG4 HGNC ENSG00000173546 101 0 0 80 21 20.7921 MEX3B 0 genome.wustl.edu 37 15 82336148 82336148 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 82336148 82336148 C T SNP MEX3B ENST00000329713 human ensembl 74_37 -1 known missense c.1063 p.G355S 0.973 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3B HGNC ENSG00000183496 66 0 0 67 18 21.1765 ADAMTSL3 0 genome.wustl.edu 37 15 84582089 84582089 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 84582089 84582089 A G SNP ADAMTSL3 ENST00000286744 human ensembl 74_37 +1 known missense c.1946 p.E649G 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL3 HGNC ENSG00000156218 54 0 0 33 4 10.8108 POLG 0 genome.wustl.edu 37 15 89862219 89862219 + Silent SNP G G C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 89862219 89862219 G C SNP POLG ENST00000268124 human ensembl 74_37 -1 known silent c.3216 p.T1072 1.000 pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,smart_DNA-dir_DNA_pol_A_palm_dom pirsf_DNA-dir_DNA_pol_A_mt_sub,pfam_DNA-dir_DNA_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_A_palm_dom,prints_DNA-dir_DNA_pol_A_mt - no_errors POLG HGNC ENSG00000140521 85 0 0 90 7 7.21649 CLEC16A 0 genome.wustl.edu 37 16 11154827 11154827 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 11154827 11154827 G A SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known silent c.2064 p.L688 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 228 1 0.436681 234 15 6.0241 SSTR5 0 genome.wustl.edu 37 16 1129861 1129861 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 1129861 1129861 C T SNP SSTR5 ENST00000293897 human ensembl 74_37 +1 known silent c.993 p.D331 0.710 prints_Somatstn_rcpt_5 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt_5,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_NPY_rcpt - no_errors SSTR5 HGNC ENSG00000162009 35 0 0 45 7 13.4615 SNX29 0 genome.wustl.edu 37 16 12142456 12142456 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 12142456 12142456 G A SNP SNX29 ENST00000566228 human ensembl 74_37 +1 putative missense c.727 p.V243M 0.460 NULL pfam_Run,pfam_Phox,superfamily_Phox,smart_Run,smart_Phox,pfscan_Phox,pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 111 0 0 87 22 20.1835 TELO2 0 genome.wustl.edu 37 16 1551731 1551731 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 1551731 1551731 G A SNP TELO2 ENST00000262319 human ensembl 74_37 +1 known missense c.1429 p.V477I 0.008 NULL pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold - no_errors TELO2 HGNC ENSG00000100726 75 0 0 59 12 16.9014 GDE1 0 genome.wustl.edu 37 16 19528399 19528399 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 19528399 19528399 C T SNP GDE1 ENST00000353258 human ensembl 74_37 -1 known missense c.374 p.R125Q 0.039 pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl pfam_GlyceroP-diester-Pdiesterase,superfamily_PLC-like_Pdiesterase_TIM-brl - no_errors GDE1 HGNC ENSG00000006007 101 0 0 71 13 15.4762 ZP2 0 genome.wustl.edu 37 16 21221474 21221474 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 21221474 21221474 A G SNP ZP2 ENST00000219593 human ensembl 74_37 -1 known missense c.191 p.F64S 0.021 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP2 HGNC ENSG00000103310 105 0 0 67 9 11.8421 PKD1 0 genome.wustl.edu 37 16 2164521 2164521 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 2164521 2164521 G A SNP PKD1 ENST00000262304 human ensembl 74_37 -1 known missense c.2503 p.R835C 0.599 tigrfam_Polycystin_cat pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_PLAT/LH2_dom,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 26 0 0 21 6 22.2222 E4F1 0 genome.wustl.edu 37 16 2284966 2284966 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 2284966 2284966 G A SNP E4F1 ENST00000301727 human ensembl 74_37 +1 known silent c.1899 p.S633 0.012 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors E4F1 HGNC ENSG00000167967 9 0 0 15 4 21.0526 USP31 0 genome.wustl.edu 37 16 23080493 23080493 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 23080493 23080493 G A SNP USP31 ENST00000219689 human ensembl 74_37 -1 known missense c.2933 p.P978L 0.064 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP31 HGNC ENSG00000103404 123 0 0 101 20 16.5289 COG7 0 genome.wustl.edu 37 16 23415109 23415109 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 23415109 23415109 G A SNP COG7 ENST00000307149 human ensembl 74_37 -1 known missense c.1709 p.A570V 0.976 pfam_COG7 pfam_COG7 - no_errors COG7 HGNC ENSG00000168434 62 0 0 59 12 16.9014 CACNG3 0 genome.wustl.edu 37 16 24372735 24372735 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 24372735 24372735 C T SNP CACNG3 ENST00000005284 human ensembl 74_37 +1 known missense c.499 p.R167C 0.996 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu - no_errors CACNG3 HGNC ENSG00000006116 202 0 0 165 36 17.9104 ABCA17P 0 genome.wustl.edu 37 16 2474693 2474693 + RNA SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 2474693 2474693 C T SNP ABCA17P ENST00000469908 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ABCA17P HGNC ENSG00000238098 18 0 0 20 5 20 KIAA0556 0 genome.wustl.edu 37 16 27765529 27765529 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 27765529 27765529 C T SNP KIAA0556 ENST00000261588 human ensembl 74_37 +1 known silent c.3588 p.V1196 0.000 NULL superfamily_Thaumatin - no_errors KIAA0556 HGNC ENSG00000047578 71 0 0 85 16 15.8416 GSG1L 0 genome.wustl.edu 37 16 27802759 27802759 + Missense_Mutation SNP G G C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 27802759 27802759 G C SNP GSG1L ENST00000447459 human ensembl 74_37 -1 known missense c.928 p.P310A 1.000 NULL pfam_GSG-1,pfam_PMP22/EMP/MP20/Claudin - no_errors GSG1L HGNC ENSG00000169181 40 0 0 36 4 10 TUFM 0 genome.wustl.edu 37 16 28856346 28856346 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 28856346 28856346 C T SNP TUFM ENST00000313511 human ensembl 74_37 -1 known missense c.445 p.G149S 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EFTu/EF1A_bac/org - no_errors TUFM HGNC ENSG00000178952 77 0 0 57 24 29.6296 LAT 0 genome.wustl.edu 37 16 28997940 28997940 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 28997940 28997940 G A SNP LAT ENST00000360872 human ensembl 74_37 +1 known silent c.390 p.P130 0.000 NULL prints_Linker_for_activat_Tcells_prot - no_errors LAT HGNC ENSG00000213658 47 0 0 59 7 10.6061 MVP 0 genome.wustl.edu 37 16 29853263 29853263 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 29853263 29853263 G A SNP MVP ENST00000357402 human ensembl 74_37 +1 known silent c.1464 p.S488 0.001 NULL pfam_Vault_N,pfam_MVP_shoulder - no_errors MVP HGNC ENSG00000013364 44 0 0 44 12 21.4286 SEZ6L2 0 genome.wustl.edu 37 16 29891335 29891335 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 29891335 29891335 T C SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.1423 p.T475A 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 87 0 0 75 5 6.25 SRCAP 0 genome.wustl.edu 37 16 30735442 30735442 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 30735442 30735442 C T SNP SRCAP ENST00000262518 human ensembl 74_37 +1 known missense c.4697 p.A1566V 1.000 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 84 0 0 66 26 28.2609 C16orf93 0 genome.wustl.edu 37 16 30768894 30768894 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 30768894 30768894 C T SNP C16orf93 ENST00000543610 human ensembl 74_37 -1 known missense c.899 p.R300Q 0.474 NULL NULL - no_errors C16orf93 HGNC ENSG00000196118 130 0 0 130 31 19.2547 KAT8 0 genome.wustl.edu 37 16 31131792 31131792 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 31131792 31131792 G A SNP KAT8 ENST00000448516 human ensembl 74_37 +1 known missense c.419 p.R140H 1.000 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 36 0 0 35 12 25.5319 PRSS36 0 genome.wustl.edu 37 16 31152917 31152917 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 31152917 31152917 G A SNP PRSS36 ENST00000268281 human ensembl 74_37 -1 known silent c.1774 p.L592 0.925 pirsf_Pept_S1A_polyserase-2,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 60 0 0 73 25 25.5102 ITGAX 0 genome.wustl.edu 37 16 31383749 31383749 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 31383749 31383749 G A SNP ITGAX ENST00000268296 human ensembl 74_37 +1 known silent c.2211 p.T737 0.680 pfam_Integrin_alpha-2,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAX HGNC ENSG00000140678 75 0 0 75 29 27.8846 ITGAD 0 genome.wustl.edu 37 16 31426276 31426276 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 31426276 31426276 G A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known silent c.2247 p.V749 0.890 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 121 0 0 103 30 22.5564 ZNF213 0 genome.wustl.edu 37 16 3190766 3190766 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 3190766 3190766 C T SNP ZNF213 ENST00000396878 human ensembl 74_37 +1 known silent c.798 p.S266 0.000 pfscan_Krueppel-associated_box pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF213 HGNC ENSG00000085644 86 0 0 56 22 28.2051 SLC6A10P 0 genome.wustl.edu 37 16 32890625 32890625 + RNA SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 32890625 32890625 G A SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 43 0 0 39 6 13.3333 MEFV 0 genome.wustl.edu 37 16 3293871 3293871 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 3293871 3293871 T C SNP MEFV ENST00000219596 human ensembl 74_37 -1 known missense c.1781 p.Q594R 0.816 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 48 0 0 54 8 12.9032 CREBBP 0 genome.wustl.edu 37 16 3808004 3808004 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 3808004 3808004 T C SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known missense c.3415 p.K1139E 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 67 0 0 63 12 16 GLIS2 0 genome.wustl.edu 37 16 4384870 4384870 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 4384870 4384870 C T SNP GLIS2 ENST00000262366 human ensembl 74_37 +1 known silent c.414 p.S138 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS2 HGNC ENSG00000126603 83 0 0 92 5 5.15464 PPL 0 genome.wustl.edu 37 16 4935616 4935616 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 4935616 4935616 G A SNP PPL ENST00000345988 human ensembl 74_37 -1 known missense c.3040 p.R1014W 0.333 NULL pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors PPL HGNC ENSG00000118898 129 0 0 126 33 20.7547 SALL1 0 genome.wustl.edu 37 16 51175655 51175655 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 51175655 51175655 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.478 p.G160S 0.005 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 56 0 0 56 11 16.4179 RPGRIP1L 0 genome.wustl.edu 37 16 53720489 53720489 + Splice_Site SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 53720489 53720489 C G SNP RPGRIP1L ENST00000379925 human ensembl 74_37 -1 known splice_site c.633-1 e5-1 1.000 - - - no_errors RPGRIP1L HGNC ENSG00000103494 110 0 0 73 7 8.75 BBS2 0 genome.wustl.edu 37 16 56536710 56536710 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 56536710 56536710 C T SNP BBS2 ENST00000245157 human ensembl 74_37 -1 known missense c.815 p.R272Q 1.000 superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot superfamily_WD40_repeat_dom,pirsf_Bardet-Biedl_syndrome_2_prot - no_errors BBS2 HGNC ENSG00000125124 61 0 0 43 8 15.6863 GPR97 0 genome.wustl.edu 37 16 57713135 57713135 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 57713135 57713135 G A SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known missense c.539 p.R180H 0.001 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 121 0 0 78 25 24.2718 CMTM1 0 genome.wustl.edu 37 16 66600506 66600506 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 66600506 66600506 C T SNP CMTM1 ENST00000332695 human ensembl 74_37 +1 known silent c.90 p.S30 0.000 NULL NULL - no_errors CMTM1 HGNC ENSG00000089505 74 0 0 94 6 6 ELMO3 0 genome.wustl.edu 37 16 67235910 67235910 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 67235910 67235910 G A SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known missense c.1240 p.V414M 0.940 pfam_Engulfment_cell_motility_ELMO pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 83 0 0 84 24 22.2222 ACD 0 genome.wustl.edu 37 16 67692248 67692248 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 67692248 67692248 C T SNP ACD ENST00000393919 human ensembl 74_37 -1 known missense c.1105 p.G369S 0.000 NULL NULL - no_errors ACD HGNC ENSG00000102977 52 0 0 66 5 7.04225 CDH1 0 genome.wustl.edu 37 16 68844099 68844099 + Splice_Site SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 68844099 68844099 G A SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known splice_site c.688-1 e6-1 1.000 - - - no_errors CDH1 HGNC ENSG00000039068 187 0 0 207 22 9.60699 DDX19B 0 genome.wustl.edu 37 16 70351442 70351442 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 70351442 70351442 C T SNP DDX19B ENST00000288071 human ensembl 74_37 +1 known missense c.340 p.R114C 1.000 smart_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19B HGNC ENSG00000157349 126 0 0 75 13 14.7727 DDX19A 0 genome.wustl.edu 37 16 70384460 70384460 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 70384460 70384460 A C SNP DDX19A ENST00000302243 human ensembl 74_37 +1 known missense c.58 p.M20L 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX19A HGNC ENSG00000168872 59 0 0 36 6 14.2857 COG4 0 genome.wustl.edu 37 16 70524291 70524291 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 70524291 70524291 G T SNP COG4 ENST00000323786 human ensembl 74_37 -1 known missense c.1652 p.T551N 1.000 NULL pfam_COG_su4,smart_COG_su4 - no_errors COG4 HGNC ENSG00000103051 101 0 0 85 6 6.59341 WDR90 0 genome.wustl.edu 37 16 711649 711649 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 711649 711649 C T SNP WDR90 ENST00000549091 human ensembl 74_37 +1 novel silent c.3726 p.L1242 0.000 superfamily_Quinonprotein_ADH-like_supfam,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 53 0 0 74 4 5.12821 WDR90 0 genome.wustl.edu 37 16 715671 715671 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 715671 715671 T C SNP WDR90 ENST00000315764 human ensembl 74_37 +1 known missense c.101 p.F34S 0.002 smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 66 0 0 73 6 7.59494 DHX38 0 genome.wustl.edu 37 16 72138492 72138492 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 72138492 72138492 C T SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known silent c.2118 p.G706 0.115 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 184 0 0 146 32 17.9775 ZFHX3 0 genome.wustl.edu 37 16 72991559 72991559 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 72991559 72991559 A G SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known missense c.2486 p.M829T 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 172 0 0 146 44 23.1579 ZFHX3 0 genome.wustl.edu 37 16 72993336 72993336 + Nonsense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 72993336 72993336 G A SNP ZFHX3 ENST00000268489 human ensembl 74_37 -1 known nonsense c.709 p.R237* 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX3 HGNC ENSG00000140836 170 0 0 155 13 7.7381 GAN 0 genome.wustl.edu 37 16 81398592 81398592 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 81398592 81398592 C T SNP GAN ENST00000568107 human ensembl 74_37 +1 known missense c.1250 p.A417V 1.000 smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors GAN HGNC ENSG00000261609 98 0 0 90 6 6.25 ZC3H18 0 genome.wustl.edu 37 16 88675419 88675419 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 88675419 88675419 G T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known missense c.1166 p.R389M 1.000 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 151 0 0 98 23 19.0083 MYH8 0 genome.wustl.edu 37 17 10304654 10304654 + Nonsense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 10304654 10304654 C A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known nonsense c.3046 p.E1016* 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH8 HGNC ENSG00000133020 274 0 0 162 48 22.8571 MYH1 0 genome.wustl.edu 37 17 10399358 10399358 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 10399358 10399358 C T SNP MYH1 ENST00000226207 human ensembl 74_37 -1 known missense c.5078 p.R1693Q 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH1 HGNC ENSG00000109061 119 1 0.833333 88 18 16.9811 ARHGAP44 0 genome.wustl.edu 37 17 12847420 12847420 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 12847420 12847420 G A SNP ARHGAP44 ENST00000379672 human ensembl 74_37 +1 known silent c.768 p.P256 0.369 superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom pfam_BAR_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors ARHGAP44 HGNC ENSG00000006740 45 0 0 39 14 26.4151 PRPF8 0 genome.wustl.edu 37 17 1576732 1576732 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 1576732 1576732 G A SNP PRPF8 ENST00000304992 human ensembl 74_37 -1 known silent c.3576 p.F1192 0.999 superfamily_Cupredoxin pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_PRO8NT,pfam_Prp8_U5-snRNA-bd,pfam_PROCT,pfam_RRM_spliceosomal_PrP8,pfam_JAB_MPN_dom,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB_MPN_dom - no_errors PRPF8 HGNC ENSG00000174231 77 0 0 69 19 21.5909 ZNF287 0 genome.wustl.edu 37 17 16455348 16455348 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 16455348 16455348 G T SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.2108 p.P703H 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 123 0 0 83 11 11.7021 MPRIP 0 genome.wustl.edu 37 17 17030083 17030083 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 17030083 17030083 G A SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known missense c.335 p.R112H 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 83 0 0 73 5 6.41026 MYO15A 0 genome.wustl.edu 37 17 18058523 18058523 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 18058523 18058523 G A SNP MYO15A ENST00000205890 human ensembl 74_37 +1 known missense c.8324 p.R2775H 1.000 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 30 0 0 39 3 7.14286 RTN4RL1 0 genome.wustl.edu 37 17 1840671 1840671 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 1840671 1840671 G A SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.445 p.H149Y 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 73 0 0 65 20 23.5294 EPN2 0 genome.wustl.edu 37 17 19232061 19232061 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 19232061 19232061 G A SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known silent c.1185 p.V395 0.014 NULL pfam_Epsin_dom_N,pfam_ANTH_dom,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif - no_errors EPN2 HGNC ENSG00000072134 61 0 0 105 6 5.40541 HIC1 0 genome.wustl.edu 37 17 1960262 1960262 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 1960262 1960262 C T SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known missense c.335 p.A112V 0.387 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 8 0 0 16 4 20 HIC1 0 genome.wustl.edu 37 17 1961289 1961289 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 1961289 1961289 G A SNP HIC1 ENST00000322941 human ensembl 74_37 +1 known silent c.1362 p.A454 0.922 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors HIC1 HGNC ENSG00000177374 21 0 0 22 4 15.3846 TMEM11 0 genome.wustl.edu 37 17 21101784 21101784 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 21101784 21101784 C T SNP TMEM11 ENST00000317635 human ensembl 74_37 -1 known silent c.432 p.S144 0.779 NULL NULL - no_errors TMEM11 HGNC ENSG00000178307 120 0 0 118 29 19.7279 MAP2K3 0 genome.wustl.edu 37 17 21207775 21207775 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 21207775 21207775 C T SNP MAP2K3 ENST00000342679 human ensembl 74_37 +1 known silent c.606 p.G202 0.994 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP2K3 HGNC ENSG00000034152 69 0 0 73 10 12.0482 UBBP4 0 genome.wustl.edu 37 17 21731270 21731270 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 21731270 21731270 T C SNP UBBP4 ENST00000584755 human ensembl 74_37 +1 novel missense c.572 p.I191T 1.000 smart_Ubiquitin_dom pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 111 0 0 122 9 6.87023 SGSM2 0 genome.wustl.edu 37 17 2282757 2282757 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 2282757 2282757 C G SNP SGSM2 ENST00000268989 human ensembl 74_37 +1 known missense c.3099 p.I1033M 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM2 HGNC ENSG00000141258 40 0 0 43 16 27.1186 NOS2 0 genome.wustl.edu 37 17 26105983 26105983 + Silent SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 26105983 26105983 G T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.1104 p.P368 0.964 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 94 0 0 96 29 23.2 NOS2 0 genome.wustl.edu 37 17 26107891 26107891 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 26107891 26107891 G A SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.906 p.F302 0.983 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 65 0 0 52 19 26.7606 NOS2 0 genome.wustl.edu 37 17 26108173 26108173 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 26108173 26108173 A G SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known silent c.753 p.S251 0.005 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 76 0 0 87 7 7.44681 C17orf97 0 genome.wustl.edu 37 17 263291 263291 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 263291 263291 C T SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known silent c.657 p.P219 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 32 0 0 34 17 33.3333 SLC13A2 0 genome.wustl.edu 37 17 26820707 26820707 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 26820707 26820707 A C SNP SLC13A2 ENST00000444914 human ensembl 74_37 +1 known missense c.1144 p.S382R 0.304 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A2 HGNC ENSG00000007216 120 0 0 98 8 7.54717 TRAF4 0 genome.wustl.edu 37 17 27071132 27071132 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 27071132 27071132 T C SNP TRAF4 ENST00000262395 human ensembl 74_37 +1 known missense c.2 p.M1T 1.000 pirsf_TNF_rcpt--assoc_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 24 0 0 21 6 22.2222 CRYBA1 0 genome.wustl.edu 37 17 27579207 27579207 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 27579207 27579207 G A SNP CRYBA1 ENST00000225387 human ensembl 74_37 +1 known missense c.341 p.R114H 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBA1 HGNC ENSG00000108255 49 0 0 52 14 21.2121 AATF 0 genome.wustl.edu 37 17 35306443 35306443 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 35306443 35306443 C A SNP AATF ENST00000225402 human ensembl 74_37 +1 known silent c.18 p.P6 0.189 NULL pfam_AATF_C - no_errors AATF HGNC ENSG00000108270 17 0 0 10 5 33.3333 SYNRG 0 genome.wustl.edu 37 17 35921614 35921614 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 35921614 35921614 A C SNP SYNRG ENST00000339208 human ensembl 74_37 -1 known missense c.1559 p.I520S 1.000 NULL smart_EPS15_homology,pfscan_EPS15_homology - no_errors SYNRG HGNC ENSG00000006114 79 0 0 34 13 27.6596 GSG2 0 genome.wustl.edu 37 17 3629365 3629365 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 3629365 3629365 C T SNP GSG2 ENST00000325418 human ensembl 74_37 +1 known silent c.2136 p.T712 0.789 pfam_DUF3635,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_DUF3635,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors GSG2 HGNC ENSG00000177602 79 0 0 68 25 26.8817 PCGF2 0 genome.wustl.edu 37 17 36895090 36895090 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 36895090 36895090 C T SNP PCGF2 ENST00000360797 human ensembl 74_37 -1 known missense c.341 p.R114H 0.841 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors PCGF2 HGNC ENSG00000056661 76 0 0 57 17 22.973 CDK12 0 genome.wustl.edu 37 17 37650838 37650838 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 37650838 37650838 A G SNP CDK12 ENST00000447079 human ensembl 74_37 +1 known silent c.2310 p.T770 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK12 HGNC ENSG00000167258 28 0 0 21 7 25 ERBB2 0 genome.wustl.edu 37 17 37881000 37881000 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 37881000 37881000 G A SNP ERBB2 ENST00000269571 human ensembl 74_37 +1 known missense c.2329 p.V777M 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB2 HGNC ENSG00000141736 87 0 0 63 19 23.1707 SMARCE1 0 genome.wustl.edu 37 17 38792295 38792295 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 38792295 38792295 T C SNP SMARCE1 ENST00000348513 human ensembl 74_37 -1 known missense c.429 p.I143M 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SMARCE1 HGNC ENSG00000073584 179 0 0 116 19 14.0741 KRT39 0 genome.wustl.edu 37 17 39116718 39116718 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 39116718 39116718 C T SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known silent c.1032 p.E344 0.993 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 245 0 0 223 14 5.90717 KRTAP9-9 0 genome.wustl.edu 37 17 39412120 39412120 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 39412120 39412120 C T SNP KRTAP9-9 ENST00000394008 human ensembl 74_37 +1 known silent c.483 p.S161 0.737 NULL NULL - no_errors KRTAP9-9 HGNC ENSG00000198083 220 0 0 220 59 21.147 ZZEF1 0 genome.wustl.edu 37 17 3980228 3980228 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 3980228 3980228 C T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known silent c.3045 p.Q1015 0.998 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 93 0 0 51 10 16.3934 JUP 0 genome.wustl.edu 37 17 39919526 39919526 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 39919526 39919526 C A SNP JUP ENST00000310706 human ensembl 74_37 -1 known silent c.1206 p.V402 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 72 0 0 74 7 8.64198 JUP 0 genome.wustl.edu 37 17 39925267 39925267 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 39925267 39925267 C T SNP JUP ENST00000310706 human ensembl 74_37 -1 known missense c.661 p.A221T 0.885 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors JUP HGNC ENSG00000173801 28 0 0 14 2 12.5 STAT5B 0 genome.wustl.edu 37 17 40375517 40375517 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 40375517 40375517 T C SNP STAT5B ENST00000293328 human ensembl 74_37 -1 known missense c.433 p.N145D 1.000 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT5B HGNC ENSG00000173757 110 0 0 101 19 15.8333 NAGLU 0 genome.wustl.edu 37 17 40690692 40690692 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 40690692 40690692 G A SNP NAGLU ENST00000225927 human ensembl 74_37 +1 known missense c.683 p.R228Q 0.934 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 57 0 0 60 18 23.0769 MLX 0 genome.wustl.edu 37 17 40723569 40723569 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 40723569 40723569 T C SNP MLX ENST00000246912 human ensembl 74_37 +1 known missense c.845 p.L282P 0.996 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLX HGNC ENSG00000108788 217 0 0 163 46 22.0096 ANKFY1 0 genome.wustl.edu 37 17 4139185 4139185 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 4139185 4139185 G A SNP ANKFY1 ENST00000570535 human ensembl 74_37 -1 known silent c.330 p.S110 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt - no_errors ANKFY1 HGNC ENSG00000185722 145 0 0 135 34 20.1183 PLEKHM1 0 genome.wustl.edu 37 17 43516967 43516967 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 43516967 43516967 C T SNP PLEKHM1 ENST00000430334 human ensembl 74_37 -1 known missense c.2935 p.A979T 0.081 NULL pfam_Run,superfamily_Znf_FYVE_PHD,smart_Run,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Pleckstrin_homology,pfscan_Run,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PLEKHM1 HGNC ENSG00000225190 68 0 0 47 11 18.9655 XYLT2 0 genome.wustl.edu 37 17 48437638 48437638 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 48437638 48437638 G A SNP XYLT2 ENST00000017003 human ensembl 74_37 +1 known missense c.2584 p.G862R 1.000 NULL pfam_XylT,pfam_Glyco_trans_14 - no_errors XYLT2 HGNC ENSG00000015532 20 0 0 28 5 15.1515 RNF167 0 genome.wustl.edu 37 17 4846555 4846555 + Silent SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 4846555 4846555 G T SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known silent c.552 p.L184 0.998 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 63 0 0 50 12 19.3548 MYCBPAP 0 genome.wustl.edu 37 17 48598498 48598498 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 48598498 48598498 A G SNP MYCBPAP ENST00000323776 human ensembl 74_37 +1 known missense c.1073 p.Y358C 1.000 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 32 0 0 20 9 31.0345 CAMTA2 0 genome.wustl.edu 37 17 4876222 4876222 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 4876222 4876222 G A SNP CAMTA2 ENST00000414043 human ensembl 74_37 -1 known missense c.2414 p.A805V 0.997 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA2 HGNC ENSG00000108509 111 0 0 116 10 7.93651 WFIKKN2 0 genome.wustl.edu 37 17 48913367 48913367 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 48913367 48913367 G A SNP WFIKKN2 ENST00000311378 human ensembl 74_37 +1 known silent c.69 p.L23 1.000 NULL pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Netrin_module_non-TIMP,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Ig_V-set,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN2 HGNC ENSG00000173714 17 0 0 18 6 25 NLRP1 0 genome.wustl.edu 37 17 5437297 5437297 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 5437297 5437297 A G SNP NLRP1 ENST00000572272 human ensembl 74_37 -1 known missense c.2972 p.V991A 0.000 NULL pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 244 0 0 221 46 17.2285 TRIM25 0 genome.wustl.edu 37 17 54969487 54969487 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 54969487 54969487 C T SNP TRIM25 ENST00000316881 human ensembl 74_37 -1 known silent c.1467 p.R489 0.888 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM25 HGNC ENSG00000121060 94 0 0 62 5 7.46269 EPX 0 genome.wustl.edu 37 17 56276417 56276417 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 56276417 56276417 G A SNP EPX ENST00000225371 human ensembl 74_37 +1 known silent c.1137 p.T379 0.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors EPX HGNC ENSG00000121053 51 0 0 38 12 24 SEPT4 0 genome.wustl.edu 37 17 56599209 56599209 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 56599209 56599209 C A SNP SEPT4 ENST00000457347 human ensembl 74_37 -1 known missense c.848 p.R283L 1.000 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase - no_errors SEPT4 HGNC ENSG00000108387 61 0 0 59 4 6.34921 TBC1D3P2 0 genome.wustl.edu 37 17 60342454 60342454 + RNA SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 60342454 60342454 T G SNP TBC1D3P2 ENST00000581291 human ensembl 74_37 -1 known rna NULL NULL 0.117 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 128 0 0 134 9 6.29371 MRC2 0 genome.wustl.edu 37 17 60743600 60743600 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 60743600 60743600 C T SNP MRC2 ENST00000303375 human ensembl 74_37 +1 known silent c.666 p.D222 0.677 pfam_FN_type2_col-bd,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC2 HGNC ENSG00000011028 18 0 0 11 5 31.25 TANC2 0 genome.wustl.edu 37 17 61498207 61498207 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 61498207 61498207 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4864 p.V1622I 0.993 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 120 0 0 121 25 17.1233 MAP3K3 0 genome.wustl.edu 37 17 61744414 61744414 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 61744414 61744414 T C SNP MAP3K3 ENST00000361357 human ensembl 74_37 +1 known missense c.589 p.S197P 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP3K3 HGNC ENSG00000198909 102 0 0 87 7 7.44681 GH2 0 genome.wustl.edu 37 17 61957644 61957644 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 61957644 61957644 G A SNP GH2 ENST00000456543 human ensembl 74_37 -1 known silent c.687 p.C229 0.000 NULL pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors GH2 HGNC ENSG00000136487 37 0 0 38 12 24 TEX2 0 genome.wustl.edu 37 17 62291431 62291431 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 62291431 62291431 C A SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.147 p.E49D 1.000 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 103 0 0 106 17 13.8211 RGS9 0 genome.wustl.edu 37 17 63156438 63156438 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 63156438 63156438 G A SNP RGS9 ENST00000262406 human ensembl 74_37 +1 known missense c.293 p.G98D 0.032 pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom pfam_RGS_dom,pfam_G-protein_gamma-like_dom,pfam_DEP_dom,superfamily_Regulat_G_prot_signal_superfam,superfamily_G-protein_gamma-like_dom,smart_DEP_dom,smart_G-protein_gamma-like_dom,smart_Regulat_G_prot_signal_superfam,pfscan_DEP_dom,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS9 HGNC ENSG00000108370 84 0 0 70 18 20.4545 SLC16A11 0 genome.wustl.edu 37 17 6945994 6945994 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 6945994 6945994 C T SNP SLC16A11 ENST00000308009 human ensembl 74_37 -1 known silent c.507 p.A169 0.363 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A11 HGNC ENSG00000174326 10 0 0 5 5 50 FAM104A 0 genome.wustl.edu 37 17 71205647 71205647 + RNA SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 71205647 71205647 A G SNP FAM104A ENST00000583178 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors FAM104A HGNC ENSG00000133193 14 0 0 5 3 37.5 SDK2 0 genome.wustl.edu 37 17 71426743 71426743 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 71426743 71426743 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.1490 p.R497H 1.000 pfam_Ig_I-set,pfscan_Ig-like_dom 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 21 0 0 9 8 47.0588 SLC2A4 0 genome.wustl.edu 37 17 7186847 7186847 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7186847 7186847 C T SNP SLC2A4 ENST00000317370 human ensembl 74_37 +1 known missense c.206 p.P69L 0.761 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A4 HGNC ENSG00000181856 143 0 0 127 19 13.0137 NEURL4 0 genome.wustl.edu 37 17 7221114 7221114 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7221114 7221114 T C SNP NEURL4 ENST00000399464 human ensembl 74_37 -1 known missense c.4198 p.N1400D 1.000 NULL pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z - no_errors NEURL4 HGNC ENSG00000215041 51 0 0 65 6 8.4507 TTYH2 0 genome.wustl.edu 37 17 72245498 72245498 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 72245498 72245498 A G SNP TTYH2 ENST00000269346 human ensembl 74_37 +1 known missense c.890 p.Y297C 1.000 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 205 0 0 165 46 21.8009 GPR142 0 genome.wustl.edu 37 17 72368072 72368072 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 72368072 72368072 C T SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known missense c.722 p.A241V 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 50 0 0 35 8 18.6047 CD300A 0 genome.wustl.edu 37 17 72470778 72470778 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 72470778 72470778 C A SNP CD300A ENST00000360141 human ensembl 74_37 +1 known missense c.487 p.H163N 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD300A HGNC ENSG00000167851 67 0 0 67 17 20.2381 KCTD11 0 genome.wustl.edu 37 17 7256534 7256534 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7256534 7256534 C T SNP KCTD11 ENST00000333751 human ensembl 74_37 +1 known silent c.273 p.H91 0.988 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD11 HGNC ENSG00000213859 47 0 0 57 15 20.8333 NUP85 0 genome.wustl.edu 37 17 73229063 73229063 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 73229063 73229063 G A SNP NUP85 ENST00000245544 human ensembl 74_37 +1 known missense c.1514 p.R505K 1.000 pfam_Nucleoporin_Nup85 pfam_Nucleoporin_Nup85 - no_errors NUP85 HGNC ENSG00000125450 104 0 0 112 23 17.037 ZBTB4 0 genome.wustl.edu 37 17 7366640 7366640 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7366640 7366640 G A SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known missense c.1661 p.T554M 0.017 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 18 0 0 22 5 18.5185 ZBTB4 0 genome.wustl.edu 37 17 7369845 7369845 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7369845 7369845 C T SNP ZBTB4 ENST00000311403 human ensembl 74_37 -1 known silent c.276 p.S92 0.013 superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB4 HGNC ENSG00000174282 38 0 0 23 11 32.3529 ITGB4 0 genome.wustl.edu 37 17 73753308 73753308 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 73753308 73753308 C G SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.5246 p.A1749G 0.000 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 97 0 0 91 20 18.018 RNF157 0 genome.wustl.edu 37 17 74151699 74151699 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 74151699 74151699 C T SNP RNF157 ENST00000269391 human ensembl 74_37 -1 known missense c.1642 p.G548R 1.000 NULL smart_Znf_RING,pfscan_Znf_RING - no_errors RNF157 HGNC ENSG00000141576 61 0 0 39 10 20.4082 TNFSF12-TNFSF13 0 genome.wustl.edu 37 17 7463187 7463187 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7463187 7463187 T C SNP TNFSF12-TNFSF13 ENST00000293826 human ensembl 74_37 +1 known missense c.602 p.V201A 1.000 superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom - no_errors TNFSF12-TNFSF13 HGNC ENSG00000248871 98 0 0 95 24 20.1681 C1QTNF1 0 genome.wustl.edu 37 17 77040120 77040120 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 77040120 77040120 C A SNP C1QTNF1 ENST00000354124 human ensembl 74_37 +1 known missense c.100 p.L34M 0.772 NULL pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF1 HGNC ENSG00000173918 78 0 0 64 19 22.8916 CCDC40 0 genome.wustl.edu 37 17 78011966 78011966 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 78011966 78011966 G A SNP CCDC40 ENST00000397545 human ensembl 74_37 +1 known missense c.74 p.G25E 0.000 NULL pfam_E3_ubiquit_lig_BRE1 - no_errors CCDC40 HGNC ENSG00000141519 50 0 0 21 5 19.2308 ZNF750 0 genome.wustl.edu 37 17 80788060 80788060 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 80788060 80788060 C T SNP ZNF750 ENST00000269394 human ensembl 74_37 -1 known silent c.2130 p.T710 0.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 91 0 0 93 21 18.4211 CIDEA 0 genome.wustl.edu 37 18 12274251 12274251 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 12274251 12274251 A C SNP CIDEA ENST00000320477 human ensembl 74_37 +1 known missense c.490 p.T164P 0.014 NULL pfam_CIDE-N_dom,smart_CIDE-N_dom,pfscan_CIDE-N_dom - no_errors CIDEA HGNC ENSG00000176194 81 0 0 65 14 17.7215 ASXL3 0 genome.wustl.edu 37 18 31326030 31326030 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 31326030 31326030 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.6218 p.T2073M 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 111 0 0 94 6 6 MYOM1 0 genome.wustl.edu 37 18 3135622 3135622 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 3135622 3135622 C T SNP MYOM1 ENST00000356443 human ensembl 74_37 -1 known missense c.2132 p.R711H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM1 HGNC ENSG00000101605 56 0 0 41 4 8.88889 INO80C 0 genome.wustl.edu 37 18 33077704 33077704 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 33077704 33077704 C T SNP INO80C ENST00000441607 human ensembl 74_37 -1 known silent c.135 p.A45 0.000 NULL pfam_YL1_C - no_errors INO80C HGNC ENSG00000153391 20 0 0 19 4 17.3913 EPG5 0 genome.wustl.edu 37 18 43440128 43440128 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 43440128 43440128 G A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.6950 p.A2317V 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 102 0 0 96 10 9.43396 C18orf25 0 genome.wustl.edu 37 18 43795862 43795862 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 43795862 43795862 G A SNP C18orf25 ENST00000282059 human ensembl 74_37 +1 known missense c.16 p.A6T 1.000 NULL NULL - no_errors C18orf25 HGNC ENSG00000152242 93 0 0 53 17 24.2857 ACAA2 0 genome.wustl.edu 37 18 47323922 47323922 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 47323922 47323922 G A SNP ACAA2 ENST00000285093 human ensembl 74_37 -1 known missense c.226 p.R76C 1.000 pfam_Thiolase_N,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase pfam_Thiolase_N,pfam_Thiolase_C,superfamily_Thiolase-like,pirsf_Thiolase,tigrfam_Thiolase - no_errors ACAA2 HGNC ENSG00000167315 87 0 0 64 16 20 EPB41L3 0 genome.wustl.edu 37 18 5397403 5397403 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 5397403 5397403 G A SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2495 p.S832F 0.304 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 112 0 0 79 36 31.3043 CDH7 0 genome.wustl.edu 37 18 63477150 63477150 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 63477150 63477150 A G SNP CDH7 ENST00000323011 human ensembl 74_37 +1 known missense c.421 p.I141V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH7 HGNC ENSG00000081138 160 0 0 96 23 19.3277 LAMA1 0 genome.wustl.edu 37 18 6997771 6997771 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 6997771 6997771 T C SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known silent c.4776 p.S1592 0.000 pfam_Laminin_I pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 109 0 0 67 10 12.987 CBLN2 0 genome.wustl.edu 37 18 70209217 70209217 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 70209217 70209217 A G SNP CBLN2 ENST00000269503 human ensembl 74_37 -1 known missense c.179 p.L60P 1.000 NULL pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors CBLN2 HGNC ENSG00000141668 42 0 0 49 8 14.0351 NETO1 0 genome.wustl.edu 37 18 70461450 70461450 + Nonsense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 70461450 70461450 C A SNP NETO1 ENST00000327305 human ensembl 74_37 -1 known nonsense c.541 p.G181* 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO1 HGNC ENSG00000166342 89 0 0 73 24 24.7423 ZNF407 0 genome.wustl.edu 37 18 72346733 72346733 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 72346733 72346733 C T SNP ZNF407 ENST00000299687 human ensembl 74_37 +1 known missense c.3758 p.T1253M 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 56 0 0 37 14 27.451 NFATC1 0 genome.wustl.edu 37 18 77170705 77170705 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 77170705 77170705 G A SNP NFATC1 ENST00000427363 human ensembl 74_37 +1 known missense c.430 p.V144I 0.038 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC1 HGNC ENSG00000131196 56 0 0 47 10 17.5439 TMEM259 0 genome.wustl.edu 37 19 1014301 1014301 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 1014301 1014301 C T SNP TMEM259 ENST00000356663 human ensembl 74_37 -1 known missense c.397 p.G133S 0.000 pfam_Membralin pfam_Membralin - no_errors TMEM259 HGNC ENSG00000182087 65 0 0 62 13 17.3333 HMHA1 0 genome.wustl.edu 37 19 1080392 1080392 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 1080392 1080392 G A SNP HMHA1 ENST00000536472 human ensembl 74_37 +1 known silent c.1362 p.A454 0.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_FCH_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors HMHA1 HGNC ENSG00000180448 49 0 0 60 17 22.0779 DNM2 0 genome.wustl.edu 37 19 10893787 10893787 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 10893787 10893787 G A SNP DNM2 ENST00000314646 human ensembl 74_37 +1 known silent c.840 p.T280 0.353 pfam_Dynamin_central,superfamily_P-loop_NTPase pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_Pleckstrin_homology,smart_GED,pfscan_Pleckstrin_homology,prints_Dynamin_SF - no_errors DNM2 HGNC ENSG00000079805 57 0 0 53 13 19.697 ZNF442 0 genome.wustl.edu 37 19 12461464 12461464 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 12461464 12461464 T C SNP ZNF442 ENST00000242804 human ensembl 74_37 -1 known missense c.935 p.E312G 0.683 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF442 HGNC ENSG00000198342 218 0 0 172 69 28.6307 TNPO2 0 genome.wustl.edu 37 19 12826220 12826220 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 12826220 12826220 G A SNP TNPO2 ENST00000425528 human ensembl 74_37 -1 known missense c.565 p.R189W 1.000 superfamily_ARM-type_fold pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N - no_errors TNPO2 HGNC ENSG00000105576 71 0 0 75 19 20.2128 LPHN1 0 genome.wustl.edu 37 19 14272389 14272389 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 14272389 14272389 C T SNP LPHN1 ENST00000340736 human ensembl 74_37 -1 known silent c.1260 p.T420 0.028 NULL pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN1 HGNC ENSG00000072071 23 0 0 23 3 11.5385 SIN3B 0 genome.wustl.edu 37 19 16977341 16977341 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 16977341 16977341 A G SNP SIN3B ENST00000379803 human ensembl 74_37 +1 known missense c.1876 p.N626D 1.000 NULL pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact - no_errors SIN3B HGNC ENSG00000127511 80 0 0 52 18 25.7143 GTPBP3 0 genome.wustl.edu 37 19 17450368 17450368 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 17450368 17450368 G A SNP GTPBP3 ENST00000358792 human ensembl 74_37 +1 known missense c.1030 p.G344R 0.997 pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom pfam_GTP-bd_TrmE_N,pfam_GTP_binding_domain,superfamily_P-loop_NTPase,tigrfam_Small_GTP-bd_dom - no_errors GTPBP3 HGNC ENSG00000130299 28 0 0 33 6 15.3846 ADAT3 0 genome.wustl.edu 37 19 1912976 1912976 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 1912976 1912976 C T SNP ADAT3 ENST00000329478 human ensembl 74_37 +1 known silent c.930 p.C310 0.994 pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like pfam_CMP_dCMP_Zn-bd,superfamily_Cytidine_deaminase-like - no_errors ADAT3 HGNC ENSG00000213638 77 0 0 84 26 23.6364 NCAN 0 genome.wustl.edu 37 19 19338930 19338930 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 19338930 19338930 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.2501 p.T834M 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 65 0 0 64 14 17.9487 NCAN 0 genome.wustl.edu 37 19 19339050 19339050 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 19339050 19339050 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.2621 p.T874M 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 103 0 0 106 18 14.5161 HAPLN4 0 genome.wustl.edu 37 19 19371869 19371869 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 19371869 19371869 G A SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known silent c.237 p.H79 0.983 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 48 0 0 36 12 25 CILP2 0 genome.wustl.edu 37 19 19656297 19656297 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 19656297 19656297 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known silent c.2943 p.P981 0.004 NULL pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 28 0 0 32 7 17.9487 ATP13A1 0 genome.wustl.edu 37 19 19766902 19766902 + Nonsense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 19766902 19766902 G A SNP ATP13A1 ENST00000357324 human ensembl 74_37 -1 known nonsense c.1174 p.Q392* 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Cation_typ_V 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_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A1 HGNC ENSG00000105726 60 0 0 54 15 21.7391 ZNF493 0 genome.wustl.edu 37 19 21605806 21605806 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 21605806 21605806 T C SNP ZNF493 ENST00000392288 human ensembl 74_37 +1 novel silent c.345 p.C115 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 ZNF493 HGNC ENSG00000196268 179 0 0 112 7 5.88235 TMPRSS9 0 genome.wustl.edu 37 19 2408410 2408410 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 2408410 2408410 C T SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.797 p.S266L 0.028 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 80 0 0 70 26 27.0833 LMNB2 0 genome.wustl.edu 37 19 2433834 2433834 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 2433834 2433834 T C SNP LMNB2 ENST00000325327 human ensembl 74_37 -1 known missense c.1472 p.N491S 0.377 pfam_Lamin_tail_dom pfam_IF,pfam_Lamin_tail_dom,superfamily_Prefoldin - no_errors LMNB2 HGNC ENSG00000176619 86 0 0 114 7 5.78512 TSHZ3 0 genome.wustl.edu 37 19 31769867 31769867 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 31769867 31769867 T C SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.832 p.M278V 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 171 0 0 167 41 19.7115 ZNF181 0 genome.wustl.edu 37 19 35232234 35232234 + Silent SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 35232234 35232234 T G SNP ZNF181 ENST00000392232 human ensembl 74_37 +1 known silent c.1080 p.T360 0.997 smart_Znf_BED_prd,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF181 HGNC ENSG00000197841 81 0 0 78 10 11.3636 ZNF30 0 genome.wustl.edu 37 19 35434229 35434229 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 35434229 35434229 G A SNP ZNF30 ENST00000303586 human ensembl 74_37 +1 known missense c.362 p.R121H 0.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF30 HGNC ENSG00000168661 85 0 0 60 5 7.69231 GRAMD1A 0 genome.wustl.edu 37 19 35500086 35500086 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 35500086 35500086 G A SNP GRAMD1A ENST00000317991 human ensembl 74_37 +1 known silent c.72 p.Q24 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD1A HGNC ENSG00000089351 87 0 0 117 7 5.64516 SBSN 0 genome.wustl.edu 37 19 36018665 36018665 + Silent SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 36018665 36018665 T G SNP SBSN ENST00000452271 human ensembl 74_37 -1 novel silent c.519 p.G173 0.055 NULL NULL - no_errors SBSN HGNC ENSG00000189001 22 0 0 38 7 15.5556 ATP4A 0 genome.wustl.edu 37 19 36046105 36046105 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 36046105 36046105 A G SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known silent c.2289 p.D763 0.966 superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 62 0 0 48 15 23.8095 ATP4A 0 genome.wustl.edu 37 19 36050029 36050029 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 36050029 36050029 G A SNP ATP4A ENST00000262623 human ensembl 74_37 -1 known missense c.1121 p.A374V 1.000 pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATPase_P-typ_H/K-transp_N,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP4A HGNC ENSG00000105675 255 0 0 187 48 20.4255 ZBTB32 0 genome.wustl.edu 37 19 36207582 36207582 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 36207582 36207582 C A SNP ZBTB32 ENST00000262630 human ensembl 74_37 +1 known silent c.1392 p.T464 0.994 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB32 HGNC ENSG00000011590 79 0 0 95 37 28.0303 PIP5K1C 0 genome.wustl.edu 37 19 3646034 3646034 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 3646034 3646034 G T SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known missense c.1283 p.P428H 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 99 0 0 88 13 12.8713 CLIP3 0 genome.wustl.edu 37 19 36510151 36510151 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 36510151 36510151 C T SNP CLIP3 ENST00000360535 human ensembl 74_37 -1 known missense c.976 p.V326M 1.000 pfam_CAP-Gly_domain,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain - no_errors CLIP3 HGNC ENSG00000105270 49 0 0 39 12 23.5294 ZNF571 0 genome.wustl.edu 37 19 38057129 38057129 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 38057129 38057129 T C SNP ZNF571 ENST00000328550 human ensembl 74_37 -1 known silent c.201 p.S67 0.001 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 ZNF571 HGNC ENSG00000180479 113 0 0 79 13 14.1304 PAF1 0 genome.wustl.edu 37 19 39880926 39880926 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 39880926 39880926 G T SNP PAF1 ENST00000416728 human ensembl 74_37 -1 known missense c.14 p.P5Q 1.000 NULL pfam_RNA_pol_II-assoc_Paf1 - no_errors PAF1 HGNC ENSG00000006712 16 0 0 15 12 44.4444 MED29 0 genome.wustl.edu 37 19 39888358 39888358 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 39888358 39888358 G T SNP MED29 ENST00000594368 human ensembl 74_37 +1 putative missense c.552 p.W184C 0.000 NULL pfam_Mediator_Med29_met - no_errors MED29 HGNC ENSG00000063322 26 0 0 18 8 30.7692 FBL 0 genome.wustl.edu 37 19 40328363 40328363 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 40328363 40328363 G T SNP FBL ENST00000221801 human ensembl 74_37 -1 known missense c.670 p.R224S 1.000 pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin pfam_Fibrillarin,pirsf_Fibrillarin,prints_Fibrillarin - no_errors FBL HGNC ENSG00000105202 126 0 0 119 16 11.8519 ATP1A3 0 genome.wustl.edu 37 19 42489310 42489310 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 42489310 42489310 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known silent c.753 p.T251 0.052 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 29 0 0 35 4 10.2564 GRIK5 0 genome.wustl.edu 37 19 42560855 42560855 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 42560855 42560855 A G SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known missense c.862 p.W288R 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 91 0 0 70 20 22.2222 FSD1 0 genome.wustl.edu 37 19 4323414 4323414 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 4323414 4323414 C T SNP FSD1 ENST00000221856 human ensembl 74_37 +1 known missense c.1361 p.P454L 0.998 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors FSD1 HGNC ENSG00000105255 25 0 0 31 12 27.907 ZNF224 0 genome.wustl.edu 37 19 44610781 44610781 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 44610781 44610781 C A SNP ZNF224 ENST00000336976 human ensembl 74_37 +1 known silent c.468 p.S156 0.004 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 ZNF224 HGNC ENSG00000267680 124 0 0 95 27 22.1311 OPA3 0 genome.wustl.edu 37 19 46032599 46032599 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 46032599 46032599 C A SNP OPA3 ENST00000323060 human ensembl 74_37 -1 known missense c.258 p.E86D 0.942 pfam_OPA3-like pfam_OPA3-like - no_errors OPA3 HGNC ENSG00000125741 130 1 0.763359 122 36 22.7848 SNRPD2 0 genome.wustl.edu 37 19 46190822 46190822 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 46190822 46190822 C T SNP SNRPD2 ENST00000342669 human ensembl 74_37 -1 known missense c.346 p.A116T 1.000 superfamily_LSM_dom pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc - no_errors SNRPD2 HGNC ENSG00000125743 63 0 0 69 6 8 FBXO46 0 genome.wustl.edu 37 19 46216383 46216383 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 46216383 46216383 C A SNP FBXO46 ENST00000317683 human ensembl 74_37 -1 known missense c.371 p.W124L 1.000 NULL superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXO46 HGNC ENSG00000177051 72 0 0 83 6 6.74157 PPP5C 0 genome.wustl.edu 37 19 46891936 46891936 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 46891936 46891936 G A SNP PPP5C ENST00000012443 human ensembl 74_37 +1 known missense c.1303 p.E435K 1.000 smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,pfam_PPP_dom,pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,smart_Ser/Thr-sp_prot-phosphatase,pirsf_Ser/Thr_PPase_5,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP5C HGNC ENSG00000011485 134 1 0.740741 127 16 11.1888 UHRF1 0 genome.wustl.edu 37 19 4929423 4929423 + RNA SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 4929423 4929423 G A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors UHRF1 HGNC ENSG00000034063 30 0 0 35 14 28.5714 PTOV1 0 genome.wustl.edu 37 19 50360274 50360274 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 50360274 50360274 C T SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known missense c.601 p.R201C 1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 162 0 0 166 47 22.0657 PTOV1 0 genome.wustl.edu 37 19 50363330 50363330 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 50363330 50363330 G T SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known missense c.1129 p.G377C 1.000 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 59 0 0 56 4 6.66667 TBC1D17 0 genome.wustl.edu 37 19 50384662 50384662 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 50384662 50384662 G A SNP TBC1D17 ENST00000221543 human ensembl 74_37 +1 known missense c.457 p.A153T 0.968 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D17 HGNC ENSG00000104946 52 0 0 71 4 5.33333 ZNF473 0 genome.wustl.edu 37 19 50549654 50549654 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 50549654 50549654 G A SNP ZNF473 ENST00000270617 human ensembl 74_37 +1 known missense c.1954 p.G652R 0.980 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 ZNF473 HGNC ENSG00000142528 63 0 0 52 19 26.7606 LRRC4B 0 genome.wustl.edu 37 19 51021694 51021694 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 51021694 51021694 C T SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1276 p.V426I 1.000 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 68 0 0 68 16 19.0476 KLK9 0 genome.wustl.edu 37 19 51506431 51506431 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 51506431 51506431 C T SNP KLK9 ENST00000250366 human ensembl 74_37 -1 known missense c.689 p.R230H 0.712 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors KLK9 Uniprot_gn ENSG00000269741 122 0 0 134 14 9.45946 SIGLECL1 0 genome.wustl.edu 37 19 51769106 51769106 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 51769106 51769106 C T SNP SIGLECL1 ENST00000316401 human ensembl 74_37 +1 known missense c.380 p.A127V 0.000 NULL NULL - no_errors SIGLECL1 HGNC ENSG00000179213 234 0 0 262 30 10.274 NKG7 0 genome.wustl.edu 37 19 51875430 51875430 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 51875430 51875430 C T SNP NKG7 ENST00000221978 human ensembl 74_37 -1 known missense c.289 p.A97T 0.000 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors NKG7 HGNC ENSG00000105374 114 0 0 149 19 11.3095 ZNF841 0 genome.wustl.edu 37 19 52570189 52570189 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 52570189 52570189 G A SNP ZNF841 ENST00000389534 human ensembl 74_37 -1 known missense c.946 p.P316S 0.785 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 ZNF841 HGNC ENSG00000197608 46 0 0 37 6 13.9535 PPP2R1A 0 genome.wustl.edu 37 19 52719794 52719794 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 52719794 52719794 G A SNP PPP2R1A ENST00000322088 human ensembl 74_37 +1 known missense c.1006 p.D336N 1.000 superfamily_ARM-type_fold,pfscan_HEAT_type_2 pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP2R1A HGNC ENSG00000105568 46 0 0 44 18 29.0323 ZNF347 0 genome.wustl.edu 37 19 53644779 53644779 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 53644779 53644779 G A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known silent c.1305 p.C435 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF347 HGNC ENSG00000197937 179 0 0 153 18 10.5263 LENG1 0 genome.wustl.edu 37 19 54660650 54660650 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 54660650 54660650 G A SNP LENG1 ENST00000222224 human ensembl 74_37 -1 known silent c.426 p.P142 0.000 NULL NULL - no_errors LENG1 HGNC ENSG00000105617 95 0 0 125 15 10.7143 RPS9 0 genome.wustl.edu 37 19 54710190 54710190 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 54710190 54710190 G T SNP RPS9 ENST00000302907 human ensembl 74_37 +1 known missense c.267 p.E89D 1.000 pfam_Ribosomal_S4/S9_N,tigrfam_Ribosomal_S4/S9_euk/arc pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 54 0 0 52 16 23.5294 SUV420H2 0 genome.wustl.edu 37 19 55855161 55855161 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 55855161 55855161 G A SNP SUV420H2 ENST00000255613 human ensembl 74_37 +1 known missense c.500 p.R167H 1.000 pfam_SET_dom,smart_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SUV420H2 HGNC ENSG00000133247 16 0 0 26 9 25.7143 SAFB2 0 genome.wustl.edu 37 19 5590402 5590402 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 5590402 5590402 G A SNP SAFB2 ENST00000252542 human ensembl 74_37 -1 known silent c.2412 p.R804 0.438 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB2 HGNC ENSG00000130254 40 0 0 41 6 12.766 ZNF628 0 genome.wustl.edu 37 19 55994109 55994109 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 55994109 55994109 C A SNP ZNF628 ENST00000598519 human ensembl 74_37 +1 known missense c.1549 p.L517I 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF628 HGNC ENSG00000197483 60 0 0 70 22 23.913 CCDC106 0 genome.wustl.edu 37 19 56163822 56163822 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 56163822 56163822 C A SNP CCDC106 ENST00000308964 human ensembl 74_37 +1 known silent c.553 p.R185 1.000 NULL NULL - no_errors CCDC106 HGNC ENSG00000173581 33 0 0 46 8 14.8148 NLRP5 0 genome.wustl.edu 37 19 56549538 56549538 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 56549538 56549538 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known silent c.2763 p.S921 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 129 0 0 87 43 33.0769 ZNF787 0 genome.wustl.edu 37 19 56600242 56600242 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 56600242 56600242 C T SNP ZNF787 ENST00000270459 human ensembl 74_37 -1 known missense c.299 p.G100D 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF787 HGNC ENSG00000142409 23 0 0 34 3 8.10811 ZSCAN5A 0 genome.wustl.edu 37 19 56733037 56733037 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 56733037 56733037 T G SNP ZSCAN5A ENST00000391713 human ensembl 74_37 -1 known missense c.1398 p.K466N 0.227 pfscan_Znf_C2H2 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 71 0 0 63 15 19.2308 ZNF667 0 genome.wustl.edu 37 19 56953014 56953014 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 56953014 56953014 T G SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1734 p.K578N 0.296 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 66 0 0 55 3 5.17241 ZNF667 0 genome.wustl.edu 37 19 56953681 56953681 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 56953681 56953681 A C SNP ZNF667 ENST00000342634 human ensembl 74_37 -1 known missense c.1067 p.L356R 0.015 smart_Znf_C2H2-like pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF667 HGNC ENSG00000198046 171 0 0 121 24 16.5517 ZNF324 0 genome.wustl.edu 37 19 58983336 58983336 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 58983336 58983336 C T SNP ZNF324 ENST00000196482 human ensembl 74_37 +1 known missense c.1477 p.R493C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324 HGNC ENSG00000083812 54 0 0 43 5 10.4167 FBN3 0 genome.wustl.edu 37 19 8137014 8137014 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 8137014 8137014 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.8006 p.S2669L 0.998 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 218 0 0 229 44 16.1172 RAB11B 0 genome.wustl.edu 37 19 8464825 8464825 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 8464825 8464825 G T SNP RAB11B ENST00000328024 human ensembl 74_37 +1 known missense c.119 p.S40I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB11B HGNC ENSG00000185236 63 0 0 49 6 10.9091 HNRNPM 0 genome.wustl.edu 37 19 8548060 8548060 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 8548060 8548060 T C SNP HNRNPM ENST00000325495 human ensembl 74_37 +1 known missense c.1139 p.L380P 1.000 NULL pfam_RRM_dom,pfam_HnRNP_M_PY-NLS,smart_RRM_dom,pfscan_RRM_dom - no_errors HNRNPM HGNC ENSG00000099783 47 0 0 42 7 14.2857 OR7E24 0 genome.wustl.edu 37 19 9362135 9362135 + Missense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 9362135 9362135 A T SNP OR7E24 ENST00000456448 human ensembl 74_37 +1 known missense c.416 p.D139V 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7E24 HGNC ENSG00000237521 82 0 0 65 20 23.5294 LONRF2 0 genome.wustl.edu 37 2 100916256 100916256 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 100916256 100916256 G A SNP LONRF2 ENST00000393437 human ensembl 74_37 -1 known missense c.1190 p.A397V 0.006 NULL pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_Znf_RING,smart_TPR_repeat,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF2 HGNC ENSG00000170500 132 0 0 109 13 10.6557 KLF11 0 genome.wustl.edu 37 2 10192518 10192518 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 10192518 10192518 C T SNP KLF11 ENST00000305883 human ensembl 74_37 +1 known missense c.1423 p.R475C 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF11 HGNC ENSG00000172059 56 0 0 65 24 26.9663 RANBP2 0 genome.wustl.edu 37 2 109369912 109369912 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 109369912 109369912 G A SNP RANBP2 ENST00000283195 human ensembl 74_37 +1 known missense c.1948 p.A650T 1.000 NULL pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR_1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom - no_errors RANBP2 HGNC ENSG00000153201 150 0 0 112 12 9.67742 KCNF1 0 genome.wustl.edu 37 2 11053586 11053586 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 11053586 11053586 T C SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.1034 p.M345T 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 64 0 0 62 14 18.4211 FBLN7 0 genome.wustl.edu 37 2 112940466 112940466 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 112940466 112940466 G A SNP FBLN7 ENST00000331203 human ensembl 74_37 +1 known missense c.769 p.G257S 0.595 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors FBLN7 HGNC ENSG00000144152 74 0 0 76 34 30.9091 ROCK2 0 genome.wustl.edu 37 2 11348480 11348480 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 11348480 11348480 C T SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known missense c.2297 p.C766Y 1.000 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 57 0 0 23 5 17.8571 GREB1 0 genome.wustl.edu 37 2 11702638 11702638 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 11702638 11702638 G A SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known silent c.207 p.G69 0.134 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 121 0 0 106 42 28.3784 GREB1 0 genome.wustl.edu 37 2 11750942 11750942 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 11750942 11750942 C T SNP GREB1 ENST00000234142 human ensembl 74_37 +1 known missense c.2795 p.T932M 0.993 NULL superfamily_P-loop_NTPase - no_errors GREB1 HGNC ENSG00000196208 60 0 0 94 6 6 CCDC93 0 genome.wustl.edu 37 2 118766148 118766148 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 118766148 118766148 T C SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known silent c.129 p.R43 1.000 pfam_DUF2037 pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 152 0 0 123 7 5.38462 SNTG2 0 genome.wustl.edu 37 2 1241712 1241712 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 1241712 1241712 C T SNP SNTG2 ENST00000308624 human ensembl 74_37 +1 known missense c.772 p.R258W 0.929 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SNTG2 HGNC ENSG00000172554 11 0 0 19 9 32.1429 MYO7B 0 genome.wustl.edu 37 2 128388920 128388920 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 128388920 128388920 G A SNP MYO7B ENST00000389524 human ensembl 74_37 +1 known missense c.4999 p.A1667T 0.999 smart_MyTH4_dom,pfscan_MyTH4_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 47 0 0 54 4 6.89655 NCKAP5 0 genome.wustl.edu 37 2 133540357 133540357 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 133540357 133540357 C A SNP NCKAP5 ENST00000317721 human ensembl 74_37 -1 known missense c.4027 p.G1343W 0.002 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 43 0 0 33 9 21.4286 MAP3K19 0 genome.wustl.edu 37 2 135744541 135744541 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 135744541 135744541 G A SNP MAP3K19 ENST00000375845 human ensembl 74_37 -1 known missense c.1901 p.P634L 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAP3K19 HGNC ENSG00000176601 233 0 0 214 48 18.3206 ZRANB3 0 genome.wustl.edu 37 2 136029371 136029371 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 136029371 136029371 G A SNP ZRANB3 ENST00000264159 human ensembl 74_37 -1 known silent c.1173 p.R391 0.497 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_SNF2_N,pfam_Helicase_C,pfam_HNH,pfam_Znf_RanBP2,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Znf_RanBP2,smart_HNH_nuc,pfscan_Znf_RanBP2,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ZRANB3 HGNC ENSG00000121988 62 0 0 52 14 21.2121 LRP1B 0 genome.wustl.edu 37 2 141202148 141202148 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 141202148 141202148 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.10158 p.S3386 0.909 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 87 0 0 47 30 38.961 LRP1B 0 genome.wustl.edu 37 2 141625740 141625740 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 141625740 141625740 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4262 p.M1421T 1.000 pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 159 0 0 87 25 22.3214 ZEB2 0 genome.wustl.edu 37 2 145153986 145153986 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 145153986 145153986 T C SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known silent c.3060 p.E1020 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 236 0 0 137 62 31.1558 NBAS 0 genome.wustl.edu 37 2 15415645 15415645 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 15415645 15415645 A G SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.5687 p.V1896A 0.993 NULL pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 71 0 0 55 4 6.77966 NBAS 0 genome.wustl.edu 37 2 15557796 15557796 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 15557796 15557796 C T SNP NBAS ENST00000281513 human ensembl 74_37 -1 known missense c.2618 p.R873Q 1.000 pfam_Sec39 pfam_Sec39,superfamily_Quino_amine_DH_bsu - no_errors NBAS HGNC ENSG00000151779 38 0 0 36 5 12.1951 NR4A2 0 genome.wustl.edu 37 2 157184520 157184520 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 157184520 157184520 C T SNP NR4A2 ENST00000539077 human ensembl 74_37 -1 known missense c.1034 p.R345H 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Retinoic_acid_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_NURR_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A2 HGNC ENSG00000153234 14 0 0 11 5 31.25 BAZ2B 0 genome.wustl.edu 37 2 160289669 160289669 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 160289669 160289669 C A SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.1499 p.S500I 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 262 0 0 204 19 8.52018 PXDN 0 genome.wustl.edu 37 2 1642695 1642695 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 1642695 1642695 A C SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.4129 p.S1377A 0.000 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 74 0 0 74 21 22.1053 FIGN 0 genome.wustl.edu 37 2 164467050 164467050 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 164467050 164467050 C A SNP FIGN ENST00000333129 human ensembl 74_37 -1 known missense c.1292 p.G431V 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors FIGN HGNC ENSG00000182263 128 0 0 105 41 28.0822 PXDN 0 genome.wustl.edu 37 2 1647230 1647230 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 1647230 1647230 C T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.3862 p.V1288M 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 103 0 0 157 20 11.2994 PXDN 0 genome.wustl.edu 37 2 1652618 1652618 + Silent SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 1652618 1652618 G T SNP PXDN ENST00000252804 human ensembl 74_37 -1 known silent c.2934 p.A978 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 16 0 0 15 5 25 B3GALT1 0 genome.wustl.edu 37 2 168726164 168726164 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 168726164 168726164 C T SNP B3GALT1 ENST00000305861 human ensembl 74_37 +1 known silent c.615 p.G205 0.999 pfam_Glyco_trans_31 pfam_Glyco_trans_31 - no_errors B3GALT1 HGNC ENSG00000172318 76 0 0 51 33 39.2857 LRP2 0 genome.wustl.edu 37 2 170104000 170104000 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 170104000 170104000 T A SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.2796 p.R932S 0.992 smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 78 0 0 64 32 33.3333 RAD51AP2 0 genome.wustl.edu 37 2 17699599 17699599 + Silent SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 17699599 17699599 G T SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known silent c.84 p.S28 0.000 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 147 0 0 131 33 20.122 OSBPL6 0 genome.wustl.edu 37 2 179247919 179247919 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 179247919 179247919 A G SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.1802 p.N601S 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 71 0 0 72 7 8.86076 TTN 0 genome.wustl.edu 37 2 179410360 179410360 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 179410360 179410360 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.87773 p.I29258T 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 315 0 0 278 72 20.5714 TTN 0 genome.wustl.edu 37 2 179413378 179413378 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 179413378 179413378 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.85271 p.G28424V 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 201 0 0 154 39 20.2073 TTN 0 genome.wustl.edu 37 2 179427507 179427507 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 179427507 179427507 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.75648 p.T25216 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 44 0 0 48 5 9.43396 TTN 0 genome.wustl.edu 37 2 179544699 179544699 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 179544699 179544699 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.29770 p.E9924K 0.996 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 97 0 0 74 18 19.5652 CWC22 0 genome.wustl.edu 37 2 180830644 180830644 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 180830644 180830644 C T SNP CWC22 ENST00000295749 human ensembl 74_37 -1 known missense c.1276 p.E426K 0.993 NULL pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors CWC22 HGNC ENSG00000163510 95 0 0 54 7 11.4754 PPP1R1C 0 genome.wustl.edu 37 2 182928520 182928520 + Splice_Site SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 182928520 182928520 T C SNP PPP1R1C ENST00000409137 human ensembl 74_37 +1 known splice_site c.241+2 e4+2 1.000 - - - no_errors PPP1R1C HGNC ENSG00000150722 113 0 0 100 49 32.8859 PDE1A 0 genome.wustl.edu 37 2 183088619 183088619 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 183088619 183088619 T C SNP PDE1A ENST00000456212 human ensembl 74_37 -1 known missense c.796 p.T266A 1.000 pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1A HGNC ENSG00000115252 62 0 0 39 3 7.14286 MFSD6 0 genome.wustl.edu 37 2 191301681 191301681 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 191301681 191301681 T C SNP MFSD6 ENST00000281416 human ensembl 74_37 +1 known missense c.926 p.V309A 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors MFSD6 HGNC ENSG00000151690 165 0 0 207 18 8 PGAP1 0 genome.wustl.edu 37 2 197729777 197729777 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 197729777 197729777 G A SNP PGAP1 ENST00000354764 human ensembl 74_37 -1 known missense c.1795 p.P599S 1.000 NULL pfam_PGAP1-like - no_errors PGAP1 HGNC ENSG00000197121 63 0 0 33 8 19.5122 AOX1 0 genome.wustl.edu 37 2 201478593 201478593 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 201478593 201478593 C T SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known silent c.1515 p.G505 0.894 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 53 0 0 67 5 6.94444 MPP4 0 genome.wustl.edu 37 2 202546262 202546262 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 202546262 202546262 T G SNP MPP4 ENST00000359962 human ensembl 74_37 -1 known missense c.689 p.K230T 1.000 pfam_PDZ,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors MPP4 HGNC ENSG00000082126 45 0 0 33 11 25 FZD7 0 genome.wustl.edu 37 2 202900082 202900082 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 202900082 202900082 C T SNP FZD7 ENST00000286201 human ensembl 74_37 +1 known missense c.712 p.R238C 1.000 NULL pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD7 HGNC ENSG00000155760 56 0 0 78 13 14.2857 NDUFS1 0 genome.wustl.edu 37 2 206991509 206991509 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 206991509 206991509 T G SNP NDUFS1 ENST00000455934 human ensembl 74_37 -1 known missense c.1986 p.E662D 1.000 NULL pfam_Mopterin_OxRdtase,pfam_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfam_NuoG_C,pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,smart_NADH_UbQ_OxRdtase_Gsu_4Fe4S-bd,pfscan_2Fe-2S_ferredoxin-type,tigrfam_NADH_UbQ_OxRdtase_Gsu - no_errors NDUFS1 HGNC ENSG00000023228 173 0 0 93 54 36.7347 CCNYL1 0 genome.wustl.edu 37 2 208618400 208618400 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 208618400 208618400 G A SNP CCNYL1 ENST00000295414 human ensembl 74_37 +1 known missense c.1058 p.R353H 1.000 pirsf_Cyclin_Y pfam_Cyclin_N,pfam_Cyclin_PHO80-like,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_Y - no_errors CCNYL1 HGNC ENSG00000163249 119 1 0.833333 66 31 31.9588 UNC80 0 genome.wustl.edu 37 2 210658516 210658516 + Nonsense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 210658516 210658516 C T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known nonsense c.871 p.R291* 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 73 0 0 60 8 11.7647 APOB 0 genome.wustl.edu 37 2 21231016 21231016 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 21231016 21231016 G A SNP APOB ENST00000233242 human ensembl 74_37 -1 known silent c.8724 p.N2908 0.458 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 245 0 0 215 26 10.7884 AAMP 0 genome.wustl.edu 37 2 219130406 219130406 + Splice_Site SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 219130406 219130406 C A SNP AAMP ENST00000248450 human ensembl 74_37 -1 known splice_site c.880-1 e8-1 1.000 - - - no_errors AAMP HGNC ENSG00000127837 81 0 0 107 6 5.30973 CYP27A1 0 genome.wustl.edu 37 2 219674400 219674400 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 219674400 219674400 G A SNP CYP27A1 ENST00000258415 human ensembl 74_37 +1 known missense c.356 p.R119Q 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP27A1 HGNC ENSG00000135929 144 0 0 136 83 37.8995 IHH 0 genome.wustl.edu 37 2 219920330 219920330 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 219920330 219920330 T C SNP IHH ENST00000295731 human ensembl 74_37 -1 known missense c.835 p.T279A 0.923 pirsf_Hedgehog,pfam_Hint_dom,smart_Hint_dom_N,prints_Hedgehog,pfscan_Intein_splice_site pirsf_Hedgehog,pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,prints_Hedgehog,pfscan_Intein_splice_site - no_errors IHH HGNC ENSG00000163501 39 0 0 48 4 7.69231 TMEM198 0 genome.wustl.edu 37 2 220409409 220409409 + Splice_Site SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 220409409 220409409 A G SNP TMEM198 ENST00000373883 human ensembl 74_37 +1 known splice_site c.1-2 e1-2 0.966 - - - no_errors TMEM198 HGNC ENSG00000188760 53 0 0 44 20 31.25 WDFY1 0 genome.wustl.edu 37 2 224782711 224782711 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 224782711 224782711 G A SNP WDFY1 ENST00000233055 human ensembl 74_37 -1 known silent c.154 p.L52 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDFY1 HGNC ENSG00000085449 74 0 0 52 12 18.75 FAM124B 0 genome.wustl.edu 37 2 225265836 225265836 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 225265836 225265836 G T SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.650 p.P217H 1.000 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 75 0 0 68 6 8.10811 TRIP12 0 genome.wustl.edu 37 2 230723553 230723553 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 230723553 230723553 A G SNP TRIP12 ENST00000283943 human ensembl 74_37 -1 known missense c.836 p.L279P 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom - no_errors TRIP12 HGNC ENSG00000153827 98 0 0 70 8 10.2564 ALPI 0 genome.wustl.edu 37 2 233322527 233322527 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 233322527 233322527 G A SNP ALPI ENST00000295463 human ensembl 74_37 +1 known missense c.806 p.R269H 0.320 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPI HGNC ENSG00000163295 109 0 0 145 18 11.0429 HJURP 0 genome.wustl.edu 37 2 234749594 234749594 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 234749594 234749594 T C SNP HJURP ENST00000411486 human ensembl 74_37 -1 known missense c.1832 p.K611R 0.000 pfam_HJURP_C pfam_HJURP,pfam_HJURP_C,pfam_Centromere_Scm3_N - no_errors HJURP HGNC ENSG00000123485 126 0 0 85 47 35.6061 GBX2 0 genome.wustl.edu 37 2 237076276 237076276 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 237076276 237076276 G A SNP GBX2 ENST00000306318 human ensembl 74_37 -1 known silent c.339 p.S113 0.744 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors GBX2 HGNC ENSG00000168505 20 0 0 37 19 33.9286 COPS8 0 genome.wustl.edu 37 2 238002750 238002750 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 238002750 238002750 G A SNP COPS8 ENST00000354371 human ensembl 74_37 +1 known missense c.349 p.A117T 1.000 NULL NULL - no_errors COPS8 HGNC ENSG00000198612 149 0 0 160 16 9.09091 MLPH 0 genome.wustl.edu 37 2 238419298 238419298 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 238419298 238419298 C T SNP MLPH ENST00000264605 human ensembl 74_37 +1 known silent c.192 p.C64 0.639 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MLPH HGNC ENSG00000115648 62 0 0 37 27 42.1875 OR6B2 0 genome.wustl.edu 37 2 240969039 240969039 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 240969039 240969039 A G SNP OR6B2 ENST00000402971 human ensembl 74_37 -1 known missense c.808 p.S270P 0.078 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6B2 HGNC ENSG00000182083 124 0 0 118 16 11.9403 MYEOV2 0 genome.wustl.edu 37 2 241070388 241070388 + RNA SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 241070388 241070388 A T SNP MYEOV2 ENST00000489698 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors MYEOV2 HGNC ENSG00000172428 14 0 0 18 2 10 DTNB 0 genome.wustl.edu 37 2 25799766 25799766 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 25799766 25799766 G A SNP DTNB ENST00000406818 human ensembl 74_37 -1 known missense c.817 p.R273C 1.000 pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ - no_errors DTNB HGNC ENSG00000138101 33 0 0 15 13 46.4286 NRBP1 0 genome.wustl.edu 37 2 27662650 27662650 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 27662650 27662650 C T SNP NRBP1 ENST00000233557 human ensembl 74_37 +1 known silent c.921 p.C307 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NRBP1 HGNC ENSG00000115216 204 0 0 163 76 31.7992 IFT172 0 genome.wustl.edu 37 2 27684328 27684328 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 27684328 27684328 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.2250 p.T750 0.599 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 127 0 0 137 40 22.5989 RBKS 0 genome.wustl.edu 37 2 28004550 28004550 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 28004550 28004550 T G SNP RBKS ENST00000302188 human ensembl 74_37 -1 known missense c.901 p.S301R 1.000 pfam_PfkB_dom,tigrfam_D_ribokin_bac pfam_PfkB_dom,pfam_HMP-P_kinase-1,prints_Ribokinase,tigrfam_D_ribokin_bac - no_errors RBKS HGNC ENSG00000171174 144 0 0 90 28 23.7288 C2orf71 0 genome.wustl.edu 37 2 29294952 29294952 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 29294952 29294952 G A SNP C2orf71 ENST00000331664 human ensembl 74_37 -1 known missense c.2176 p.P726S 0.126 NULL NULL - no_errors C2orf71 HGNC ENSG00000179270 104 0 0 99 13 11.6071 SLC8A1 0 genome.wustl.edu 37 2 40656482 40656482 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 40656482 40656482 A G SNP SLC8A1 ENST00000332839 human ensembl 74_37 -1 known silent c.939 p.D313 0.985 pfscan_DnaJ_domain,tigrfam_Na_Ca_Ex pfam_NaCa_Exmemb,pfam_Calx_beta,smart_Calx_beta,pfscan_DnaJ_domain,prints_Na_Ca_Ex,prints_NaCa_exhngr1,tigrfam_Na_Ca_Ex - no_errors SLC8A1 HGNC ENSG00000183023 207 1 0.480769 181 28 13.3971 EML4 0 genome.wustl.edu 37 2 42543190 42543190 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 42543190 42543190 G T SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.2056 p.D686Y 1.000 pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 113 0 0 90 6 6.25 ZFP36L2 0 genome.wustl.edu 37 2 43452530 43452530 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 43452530 43452530 T A SNP ZFP36L2 ENST00000282388 human ensembl 74_37 -1 known missense c.413 p.Q138L 1.000 pfam_Tis11B_N pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZFP36L2 HGNC ENSG00000152518 23 0 0 44 4 8.33333 SOCS5 0 genome.wustl.edu 37 2 46986749 46986749 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 46986749 46986749 C T SNP SOCS5 ENST00000306503 human ensembl 74_37 +1 known silent c.1080 p.H360 0.999 NULL pfam_SOCS,pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS5 HGNC ENSG00000171150 88 0 0 73 32 30.4762 SOX11 0 genome.wustl.edu 37 2 5832927 5832927 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 5832927 5832927 A C SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.74 p.E25A 1.000 pirsf_SOX-12/11/4a pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 28 0 0 31 9 22.5 SLC1A4 0 genome.wustl.edu 37 2 65245255 65245255 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 65245255 65245255 T C SNP SLC1A4 ENST00000234256 human ensembl 74_37 +1 known missense c.1085 p.V362A 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A4 HGNC ENSG00000115902 105 1 0.943396 107 24 18.3206 SPRED2 0 genome.wustl.edu 37 2 65541010 65541010 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 65541010 65541010 C A SNP SPRED2 ENST00000356388 human ensembl 74_37 -1 known silent c.882 p.R294 0.909 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED2 HGNC ENSG00000198369 124 0 0 137 49 26.3441 ZNF638 0 genome.wustl.edu 37 2 71607362 71607362 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 71607362 71607362 T C SNP ZNF638 ENST00000264447 human ensembl 74_37 +1 known missense c.2276 p.V759A 1.000 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 55 0 0 28 11 28.2051 POLR1A 0 genome.wustl.edu 37 2 86272846 86272846 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 86272846 86272846 G A SNP POLR1A ENST00000263857 human ensembl 74_37 -1 known missense c.2780 p.P927L 1.000 pfam_RNA_pol_Rpb1_4 pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_Rpb1_1,smart_RNA_pol_N - no_errors POLR1A HGNC ENSG00000068654 93 0 0 93 9 8.82353 MBOAT2 0 genome.wustl.edu 37 2 9013332 9013332 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 9013332 9013332 A G SNP MBOAT2 ENST00000305997 human ensembl 74_37 -1 known silent c.789 p.H263 0.996 pfam_MBOAT_fam pfam_MBOAT_fam,superfamily_MFS_dom_general_subst_transpt - no_errors MBOAT2 HGNC ENSG00000143797 64 0 0 71 8 10.1266 TMEM127 0 genome.wustl.edu 37 2 96919847 96919847 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 96919847 96919847 T C SNP TMEM127 ENST00000258439 human ensembl 74_37 -1 known missense c.416 p.Q139R 1.000 NULL NULL - no_errors TMEM127 HGNC ENSG00000135956 82 0 0 66 32 32.6531 SNRNP200 0 genome.wustl.edu 37 2 96963431 96963431 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 96963431 96963431 G A SNP SNRNP200 ENST00000323853 human ensembl 74_37 -1 known missense c.1147 p.R383C 0.998 superfamily_P-loop_NTPase pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SNRNP200 HGNC ENSG00000144028 90 0 0 76 11 12.6437 ARID5A 0 genome.wustl.edu 37 2 97217888 97217888 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 97217888 97217888 C T SNP ARID5A ENST00000357485 human ensembl 74_37 +1 known silent c.1623 p.T541 0.002 NULL pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID5A HGNC ENSG00000196843 129 0 0 185 57 23.5537 FAHD2B 0 genome.wustl.edu 37 2 97751598 97751598 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 97751598 97751598 C T SNP FAHD2B ENST00000272610 human ensembl 74_37 -1 known missense c.523 p.A175T 1.000 pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel pfam_Fumarylacetoacetase_C,superfamily_Fumarylacetoacetase_C-rel - no_errors FAHD2B HGNC ENSG00000144199 94 0 0 104 12 10.3448 KIAA1211L 0 genome.wustl.edu 37 2 99448879 99448879 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 99448879 99448879 C T SNP KIAA1211L ENST00000397899 human ensembl 74_37 -1 known missense c.472 p.D158N 0.969 NULL NULL - no_errors KIAA1211L HGNC ENSG00000196872 79 0 0 63 31 32.9787 CST2 0 genome.wustl.edu 37 20 23807170 23807170 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 23807170 23807170 C T SNP CST2 ENST00000304725 human ensembl 74_37 -1 known missense c.128 p.R43Q 0.002 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 64 0 0 46 4 8 TGM6 0 genome.wustl.edu 37 20 2397897 2397897 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 2397897 2397897 G A SNP TGM6 ENST00000202625 human ensembl 74_37 +1 known silent c.1356 p.Q452 1.000 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM6 HGNC ENSG00000166948 17 0 0 11 8 42.1053 ZNF343 0 genome.wustl.edu 37 20 2464827 2464827 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 2464827 2464827 C T SNP ZNF343 ENST00000278772 human ensembl 74_37 -1 known silent c.780 p.P260 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 ZNF343 HGNC ENSG00000088876 133 0 0 69 28 28.866 TM9SF4 0 genome.wustl.edu 37 20 30733169 30733169 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 30733169 30733169 G A SNP TM9SF4 ENST00000398022 human ensembl 74_37 +1 known missense c.826 p.V276I 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF4 HGNC ENSG00000101337 91 0 0 43 26 37.6812 CHMP4B 0 genome.wustl.edu 37 20 32439984 32439984 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 32439984 32439984 C A SNP CHMP4B ENST00000217402 human ensembl 74_37 +1 known silent c.585 p.P195 0.923 pfam_Snf7 pfam_Snf7 - no_errors CHMP4B HGNC ENSG00000101421 240 0 0 170 15 8.10811 AHCY 0 genome.wustl.edu 37 20 32883286 32883286 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 32883286 32883286 A C SNP AHCY ENST00000217426 human ensembl 74_37 -1 known missense c.134 p.L45R 1.000 pfam_Adenosylhomocysteinase,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_IlvN,pirsf_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase - no_errors AHCY HGNC ENSG00000101444 35 0 0 33 4 10.8108 GSS 0 genome.wustl.edu 37 20 33523414 33523414 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 33523414 33523414 G A SNP GSS ENST00000216951 human ensembl 74_37 -1 known missense c.799 p.R267W 1.000 pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_dom,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk pfam_Glutathione_synthase_euk,pfam_Glutathione_synth_subst-bd_euk,superfamily_PreATP-grasp_dom,pirsf_Glutathione_synthase_euk,tigrfam_Glutathione_synthase_euk - no_errors GSS HGNC ENSG00000100983 73 0 0 66 5 7.04225 RBM12 0 genome.wustl.edu 37 20 34243085 34243085 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 34243085 34243085 T C SNP RBM12 ENST00000359646 human ensembl 74_37 -1 known missense c.160 p.R54G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM12 HGNC ENSG00000244462 51 0 0 62 5 7.46269 MYL9 0 genome.wustl.edu 37 20 35176475 35176475 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 35176475 35176475 C T SNP MYL9 ENST00000279022 human ensembl 74_37 +1 known silent c.225 p.S75 0.587 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors MYL9 HGNC ENSG00000101335 37 0 0 35 3 7.89474 LPIN3 0 genome.wustl.edu 37 20 39980775 39980775 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 39980775 39980775 T C SNP LPIN3 ENST00000373257 human ensembl 74_37 +1 known silent c.1278 p.H426 0.000 NULL pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN3 HGNC ENSG00000132793 122 0 0 78 42 35 TBC1D20 0 genome.wustl.edu 37 20 419299 419299 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 419299 419299 C T SNP TBC1D20 ENST00000354200 human ensembl 74_37 -1 known silent c.1143 p.A381 0.039 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 142 0 0 170 20 10.5263 SEMG2 0 genome.wustl.edu 37 20 43851236 43851236 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 43851236 43851236 A C SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.963 p.K321N 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 72 0 0 45 4 8.16327 MATN4 0 genome.wustl.edu 37 20 43933091 43933091 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 43933091 43933091 A G SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known silent c.420 p.R140 0.651 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 11 0 0 19 3 13.6364 PLTP 0 genome.wustl.edu 37 20 44533614 44533614 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 44533614 44533614 C T SNP PLTP ENST00000542937 human ensembl 74_37 -1 known silent c.909 p.A303 0.005 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors PLTP HGNC ENSG00000100979 55 0 0 74 6 7.5 SLC9A8 0 genome.wustl.edu 37 20 48503419 48503419 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 48503419 48503419 G A SNP SLC9A8 ENST00000417961 human ensembl 74_37 +1 known missense c.1670 p.R557Q 1.000 NULL pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A8 HGNC ENSG00000197818 81 0 0 60 32 34.7826 PCK1 0 genome.wustl.edu 37 20 56138681 56138681 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 56138681 56138681 G A SNP PCK1 ENST00000319441 human ensembl 74_37 +1 known missense c.859 p.A287T 1.000 pfam_PEP_carboxykinase_GTP,pirsf_PEP_carboxykinase_GTP pfam_PEP_carboxykinase_GTP,superfamily_PEP_carboxykinase_N,pirsf_PEP_carboxykinase_GTP - no_errors PCK1 HGNC ENSG00000124253 86 0 0 65 35 35 STX16-NPEPL1 0 genome.wustl.edu 37 20 57227154 57227154 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 57227154 57227154 A G SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.92 p.H31R 1.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 59 0 0 52 5 8.77193 FERMT1 0 genome.wustl.edu 37 20 6088264 6088264 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 6088264 6088264 C T SNP FERMT1 ENST00000217289 human ensembl 74_37 -1 known missense c.764 p.R255H 1.000 pfam_FERM_N,smart_Band_41_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT1 HGNC ENSG00000101311 46 0 0 15 9 37.5 BHLHE23 0 genome.wustl.edu 37 20 61637673 61637673 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 61637673 61637673 G A SNP BHLHE23 ENST00000370346 human ensembl 74_37 -1 known missense c.406 p.R136C 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors BHLHE23 HGNC ENSG00000125533 48 0 0 45 3 6.25 ZGPAT 0 genome.wustl.edu 37 20 62366010 62366010 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 62366010 62366010 C T SNP ZGPAT ENST00000328969 human ensembl 74_37 +1 known silent c.885 p.D295 0.016 NULL pfam_G_patch_dom,smart_Znf_CCCH,smart_G_patch_dom,pfscan_G_patch_dom - no_errors ZGPAT HGNC ENSG00000197114 173 0 0 130 68 34.3434 TPTE 0 genome.wustl.edu 37 21 10942730 10942730 + Silent SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 10942730 10942730 T G SNP TPTE ENST00000361285 human ensembl 74_37 -1 known silent c.711 p.L237 0.998 pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Ion_trans_dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE HGNC ENSG00000166157 555 0 0 369 22 5.6266 POTED 0 genome.wustl.edu 37 21 14982981 14982981 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 14982981 14982981 C A SNP POTED ENST00000299443 human ensembl 74_37 +1 known missense c.432 p.H144Q 0.321 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTED HGNC ENSG00000166351 115 0 0 131 16 10.8844 APP 0 genome.wustl.edu 37 21 27328060 27328060 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 27328060 27328060 C T SNP APP ENST00000346798 human ensembl 74_37 -1 known missense c.1468 p.V490M 1.000 superfamily_Amyloid_glyco_E2_domain pfam_Amyloid_glyco_heparin-bd,pfam_APP_amyloid_C,pfam_Amyloid_glyco_Abeta,pfam_Prot_inh_Kunz-m,superfamily_Amyloid_glyco_E2_domain,superfamily_Amyloid_glyco_heparin-bd,superfamily_Amyloid_glyco_Cu-bd,superfamily_Prot_inh_Kunz-m,smart_Amyloid_glyco_extra,smart_Prot_inh_Kunz-m,prints_Amyloid_glyco,prints_Amyloid_glyco_Abeta,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors APP HGNC ENSG00000142192 90 0 0 59 11 15.7143 TIAM1 0 genome.wustl.edu 37 21 32595734 32595734 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 32595734 32595734 C T SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known silent c.1983 p.S661 0.995 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 123 0 0 92 24 20.6897 ERG 0 genome.wustl.edu 37 21 39775628 39775628 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 39775628 39775628 G T SNP ERG ENST00000398919 human ensembl 74_37 -1 known missense c.413 p.P138H 1.000 pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ERG HGNC ENSG00000157554 85 0 0 45 3 6.25 UMODL1 0 genome.wustl.edu 37 21 43496242 43496242 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 43496242 43496242 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known missense c.205 p.R69W 0.000 pfam_EMI_domain,pfscan_EMI_domain pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 75 0 0 78 13 14.2857 UMODL1 0 genome.wustl.edu 37 21 43529775 43529775 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 43529775 43529775 C T SNP UMODL1 ENST00000408989 human ensembl 74_37 +1 known silent c.1623 p.D541 0.621 smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pfam_ZP_dom,pfam_SEA_dom,pfam_EGF-like_Ca-bd_dom,pfam_EMI_domain,pfam_WAP-type_4-diS_core,superfamily_Fibronectin_type3,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_EGF-like_Ca-bd_dom,smart_Fibronectin_type3,smart_ZP_dom,pfscan_EG-like_dom,pfscan_EMI_domain,pfscan_Fibronectin_type3,pfscan_ZP_dom,prints_ZP_dom - no_errors UMODL1 HGNC ENSG00000177398 52 0 0 86 17 16.5049 C21orf58 0 genome.wustl.edu 37 21 47722461 47722461 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 47722461 47722461 C T SNP C21orf58 ENST00000291691 human ensembl 74_37 -1 known missense c.751 p.A251T 0.418 NULL NULL - no_errors C21orf58 HGNC ENSG00000160298 16 0 0 23 3 11.5385 BID 0 genome.wustl.edu 37 22 18220977 18220977 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 18220977 18220977 C T SNP BID ENST00000317361 human ensembl 74_37 -1 known missense c.520 p.A174T 0.578 pfam_BID pfam_BID - no_errors BID HGNC ENSG00000015475 56 0 0 57 16 21.9178 C22orf39 0 genome.wustl.edu 37 22 19398267 19398267 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 19398267 19398267 G A SNP C22orf39 ENST00000509549 human ensembl 74_37 -1 known missense c.227 p.T76M 1.000 NULL NULL - no_errors C22orf39 HGNC ENSG00000242259 299 0 0 204 68 25 TANGO2 0 genome.wustl.edu 37 22 20050943 20050943 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 20050943 20050943 C T SNP TANGO2 ENST00000456048 human ensembl 74_37 +1 known missense c.703 p.R235C 1.000 pfam_DUF833 pfam_DUF833 - no_errors TANGO2 HGNC ENSG00000183597 46 0 0 30 8 21.0526 ZNF74 0 genome.wustl.edu 37 22 20749701 20749701 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 20749701 20749701 G A SNP ZNF74 ENST00000356671 human ensembl 74_37 +1 known missense c.113 p.R38K 0.948 superfamily_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 ZNF74 HGNC ENSG00000185252 101 0 0 84 20 19.2308 PI4KA 0 genome.wustl.edu 37 22 21161703 21161703 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 21161703 21161703 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.1115 p.P372H 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 40 0 0 37 5 11.9048 DERL3 0 genome.wustl.edu 37 22 24180574 24180574 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 24180574 24180574 C T SNP DERL3 ENST00000318109 human ensembl 74_37 -1 known missense c.292 p.V98I 1.000 pfam_DER1 pfam_DER1 - no_errors DERL3 HGNC ENSG00000099958 26 0 0 14 5 26.3158 MIF 0 genome.wustl.edu 37 22 24236713 24236713 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 24236713 24236713 G T SNP MIF ENST00000215754 human ensembl 74_37 +1 known missense c.52 p.G18W 0.995 pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf pfam_Macrophage_inhib_fac,superfamily_Tautomerase/MIF_sf - no_errors MIF HGNC ENSG00000240972 65 0 0 60 6 9.09091 CABIN1 0 genome.wustl.edu 37 22 24530289 24530289 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 24530289 24530289 C T SNP CABIN1 ENST00000263119 human ensembl 74_37 +1 known silent c.4653 p.D1551 0.996 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 32 0 0 31 7 18.4211 CRYBB3 0 genome.wustl.edu 37 22 25598726 25598726 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 25598726 25598726 A C SNP CRYBB3 ENST00000215855 human ensembl 74_37 +1 known missense c.161 p.E54A 1.000 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYBB3 HGNC ENSG00000100053 83 0 0 55 15 21.4286 EWSR1 0 genome.wustl.edu 37 22 29668385 29668385 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 29668385 29668385 G A SNP EWSR1 ENST00000414183 human ensembl 74_37 +1 known missense c.67 p.A23T 1.000 NULL pfam_Znf_RanBP2,pfam_RRM_dom,smart_RRM_dom,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_RRM_dom - no_errors EWSR1 HGNC ENSG00000182944 49 0 0 56 21 27.2727 EIF4ENIF1 0 genome.wustl.edu 37 22 31859034 31859034 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 31859034 31859034 G A SNP EIF4ENIF1 ENST00000330125 human ensembl 74_37 -1 known missense c.671 p.A224V 1.000 pfam_eIF4E_transporter pfam_eIF4E_transporter - no_errors EIF4ENIF1 HGNC ENSG00000184708 70 0 0 46 6 11.5385 LARGE 0 genome.wustl.edu 37 22 33670462 33670462 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 33670462 33670462 C T SNP LARGE ENST00000354992 human ensembl 74_37 -1 known missense c.2222 p.R741H 1.000 NULL pfam_Glyco_trans_8 - no_errors LARGE HGNC ENSG00000133424 195 0 0 149 34 18.5792 TMPRSS6 0 genome.wustl.edu 37 22 37480395 37480395 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 37480395 37480395 A G SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known missense c.1136 p.L379P 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom,pfscan_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 22 0 0 18 4 18.1818 PDGFB 0 genome.wustl.edu 37 22 39621767 39621767 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 39621767 39621767 C T SNP PDGFB ENST00000331163 human ensembl 74_37 -1 known silent c.687 p.T229 0.992 NULL pfam_PDGF/VEGF_dom,pfam_PDGF_N,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors PDGFB HGNC ENSG00000100311 54 0 0 44 7 13.7255 MGAT3 0 genome.wustl.edu 37 22 39884484 39884484 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 39884484 39884484 G A SNP MGAT3 ENST00000341184 human ensembl 74_37 +1 known missense c.1132 p.G378S 1.000 pfam_Glyco_trans_17 pfam_Glyco_trans_17 - no_errors MGAT3 HGNC ENSG00000128268 88 0 0 80 24 23.0769 MKL1 0 genome.wustl.edu 37 22 40814585 40814585 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 40814585 40814585 C T SNP MKL1 ENST00000355630 human ensembl 74_37 -1 known silent c.1857 p.P619 0.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MKL1 HGNC ENSG00000196588 37 0 0 44 14 24.1379 EP300 0 genome.wustl.edu 37 22 41556645 41556645 + Splice_Site SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 41556645 41556645 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known splice_site c.3591-1 e20-1 1.000 - - - no_errors EP300 HGNC ENSG00000100393 70 0 0 67 11 14.1026 SAMM50 0 genome.wustl.edu 37 22 44379812 44379812 + Splice_Site SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 44379812 44379812 G T SNP SAMM50 ENST00000350028 human ensembl 74_37 +1 known splice_site c.1008-1 e12-1 1.000 - - - no_errors SAMM50 HGNC ENSG00000100347 131 0 0 104 11 9.56522 UPK3A 0 genome.wustl.edu 37 22 45681923 45681923 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 45681923 45681923 A G SNP UPK3A ENST00000216211 human ensembl 74_37 +1 known missense c.154 p.K52E 0.001 NULL NULL - no_errors UPK3A HGNC ENSG00000100373 61 0 0 63 14 18.1818 FBLN1 0 genome.wustl.edu 37 22 45944543 45944543 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 45944543 45944543 T C SNP FBLN1 ENST00000327858 human ensembl 74_37 +1 known missense c.1492 p.C498R 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Fibulin-1,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 61 0 0 56 22 28.2051 PANX2 0 genome.wustl.edu 37 22 50617614 50617614 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 50617614 50617614 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.1942 p.V648M 0.199 NULL pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 35 0 0 44 9 16.9811 CD200R1 0 genome.wustl.edu 37 3 112648117 112648117 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 112648117 112648117 A G SNP CD200R1 ENST00000308611 human ensembl 74_37 -1 known missense c.440 p.I147T 0.027 NULL pfam_CD80_C2-set,pfscan_Ig-like_dom - no_errors CD200R1 HGNC ENSG00000163606 131 0 0 108 20 15.625 BOC 0 genome.wustl.edu 37 3 112969475 112969475 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 112969475 112969475 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known silent c.171 p.C57 0.040 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 93 0 0 65 19 22.619 BOC 0 genome.wustl.edu 37 3 112993495 112993495 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 112993495 112993495 C T SNP BOC ENST00000273395 human ensembl 74_37 +1 known missense c.1508 p.A503V 0.993 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors BOC HGNC ENSG00000144857 75 0 0 51 13 20.3125 CD80 0 genome.wustl.edu 37 3 119263419 119263419 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 119263419 119263419 A G SNP CD80 ENST00000264246 human ensembl 74_37 -1 known silent c.396 p.A132 0.000 smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 93 0 0 63 22 25.8824 CD80 0 genome.wustl.edu 37 3 119263442 119263442 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 119263442 119263442 C T SNP CD80 ENST00000264246 human ensembl 74_37 -1 known missense c.373 p.A125T 0.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD80 HGNC ENSG00000121594 94 0 0 94 5 5.05051 NR1I2 0 genome.wustl.edu 37 3 119534599 119534599 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 119534599 119534599 G A SNP NR1I2 ENST00000337940 human ensembl 74_37 +1 known missense c.1198 p.V400M 0.002 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt - no_errors NR1I2 HGNC ENSG00000144852 26 0 0 21 6 22.2222 PDIA5 0 genome.wustl.edu 37 3 122864423 122864423 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 122864423 122864423 T A SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known missense c.965 p.L322H 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 61 0 0 49 6 10.9091 PDIA5 0 genome.wustl.edu 37 3 122864424 122864424 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 122864424 122864424 C A SNP PDIA5 ENST00000316218 human ensembl 74_37 +1 known silent c.966 p.L322 1.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,prints_Thioredoxin - no_errors PDIA5 HGNC ENSG00000065485 60 0 0 48 6 11.1111 PLXNA1 0 genome.wustl.edu 37 3 126710304 126710304 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 126710304 126710304 G A SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.1272 p.T424 0.207 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 54 0 0 49 4 7.54717 PLXNA1 0 genome.wustl.edu 37 3 126732871 126732871 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 126732871 126732871 C T SNP PLXNA1 ENST00000393409 human ensembl 74_37 +1 known silent c.2322 p.Y774 0.984 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA1 HGNC ENSG00000114554 150 0 0 126 30 19.2308 COPG1 0 genome.wustl.edu 37 3 128973580 128973580 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 128973580 128973580 C T SNP COPG1 ENST00000314797 human ensembl 74_37 +1 known silent c.393 p.I131 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_Coatomer_gsu pfam_Clathrin/coatomer_adapt-like_N,pfam_Coatomer_gsu_app_Ig-like-sub,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,superfamily_Coatomer/calthrin_app_sub_C,pirsf_Coatomer_gsu - no_errors COPG1 HGNC ENSG00000181789 50 0 0 18 17 48.5714 IFT122 0 genome.wustl.edu 37 3 129185743 129185743 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 129185743 129185743 A G SNP IFT122 ENST00000296266 human ensembl 74_37 +1 known missense c.727 p.S243G 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT122 HGNC ENSG00000163913 98 0 0 104 10 8.77193 SLCO2A1 0 genome.wustl.edu 37 3 133664053 133664053 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 133664053 133664053 C T SNP SLCO2A1 ENST00000481359 human ensembl 74_37 -1 known missense c.1157 p.R386H 0.938 NULL pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 301 0 0 253 49 16.2252 ZFYVE20 0 genome.wustl.edu 37 3 15116004 15116004 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 15116004 15116004 C T SNP ZFYVE20 ENST00000253699 human ensembl 74_37 -1 known missense c.1640 p.R547Q 0.010 NULL pfam_Rbsn,pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors ZFYVE20 HGNC ENSG00000131381 80 0 0 94 8 7.84314 PLCH1 0 genome.wustl.edu 37 3 155200068 155200068 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 155200068 155200068 C T SNP PLCH1 ENST00000340059 human ensembl 74_37 -1 known silent c.3771 p.E1257 0.005 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_EF_hand_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_EF_hand_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 132 0 0 129 8 5.83942 GMPS 0 genome.wustl.edu 37 3 155633942 155633942 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 155633942 155633942 T C SNP GMPS ENST00000496455 human ensembl 74_37 +1 known silent c.1173 p.H391 0.995 NULL pfam_GATASE,pfam_GMP_synth_C,pfam_Peptidase_C26,pfam_NAD/GMP_synthase,pfam_QueC,pfam_Asn_synthase,pfam_tRNA-specific_2-thiouridylase,tigrfam_GMP_synth_N - no_errors GMPS HGNC ENSG00000163655 134 0 0 82 19 18.8119 MLF1 0 genome.wustl.edu 37 3 158315874 158315874 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 158315874 158315874 A C SNP MLF1 ENST00000392822 human ensembl 74_37 +1 known missense c.378 p.Q126H 0.011 pfam_Myeloid_leukemia_factor pfam_Myeloid_leukemia_factor - no_errors MLF1 HGNC ENSG00000178053 102 0 0 54 17 23.9437 WDR49 0 genome.wustl.edu 37 3 167277851 167277851 + Splice_Site SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 167277851 167277851 C T SNP WDR49 ENST00000308378 human ensembl 74_37 -1 known splice_site c.651+1 e4+1 1.000 - - - no_errors WDR49 HGNC ENSG00000174776 208 0 0 151 14 8.48485 SAMD7 0 genome.wustl.edu 37 3 169642884 169642884 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 169642884 169642884 G A SNP SAMD7 ENST00000335556 human ensembl 74_37 +1 known missense c.250 p.A84T 0.998 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors SAMD7 HGNC ENSG00000187033 61 0 0 28 9 24.3243 EIF4G1 0 genome.wustl.edu 37 3 184043127 184043127 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 184043127 184043127 G A SNP EIF4G1 ENST00000352767 human ensembl 74_37 +1 known missense c.2948 p.R983H 1.000 pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain - no_errors EIF4G1 HGNC ENSG00000114867 105 0 0 94 32 25.3968 CLCN2 0 genome.wustl.edu 37 3 184075996 184075996 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 184075996 184075996 G A SNP CLCN2 ENST00000265593 human ensembl 74_37 -1 known missense c.455 p.T152I 1.000 pfam_Cl-channel_volt-gated,superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_CBS_dom,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2 - no_errors CLCN2 HGNC ENSG00000114859 91 0 0 119 7 5.55556 MASP1 0 genome.wustl.edu 37 3 186953745 186953745 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 186953745 186953745 C T SNP MASP1 ENST00000296280 human ensembl 74_37 -1 known silent c.1914 p.S638 0.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,pfam_Sushi_SCR_CCP,pfam_EGF-like_Ca-bd_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1 - no_errors MASP1 HGNC ENSG00000127241 77 0 0 90 5 5.26316 LSG1 0 genome.wustl.edu 37 3 194373625 194373625 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 194373625 194373625 A G SNP LSG1 ENST00000265245 human ensembl 74_37 -1 known missense c.1006 p.W336R 0.000 superfamily_P-loop_NTPase pfam_GTP_binding_domain,superfamily_P-loop_NTPase,prints_GTP_binding_domain - no_errors LSG1 HGNC ENSG00000041802 253 0 0 176 59 25.1064 MUC4 0 genome.wustl.edu 37 3 195492283 195492283 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 195492283 195492283 T C SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.13656 p.E4552 0.000 smart_Nidogen_extracell_dom pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 61 0 0 39 13 25 FBXO45 0 genome.wustl.edu 37 3 196304666 196304666 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 196304666 196304666 G A SNP FBXO45 ENST00000311630 human ensembl 74_37 +1 known missense c.661 p.A221T 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_F-box_dom,superfamily_ConA-like_lec_gl_sf,superfamily_F-box_dom,smart_F-box_dom,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_F-box_dom - no_errors FBXO45 HGNC ENSG00000174013 32 0 0 22 11 33.3333 DLG1 0 genome.wustl.edu 37 3 196792610 196792610 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 196792610 196792610 T C SNP DLG1 ENST00000346964 human ensembl 74_37 -1 known silent c.2268 p.E756 1.000 pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_Guanylate_kin-like pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG1 HGNC ENSG00000075711 97 0 0 68 4 5.55556 RBMS3 0 genome.wustl.edu 37 3 30029683 30029683 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 30029683 30029683 C T SNP RBMS3 ENST00000383767 human ensembl 74_37 +1 known missense c.1148 p.T383M 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA - no_errors RBMS3 HGNC ENSG00000144642 95 0 0 70 22 23.913 CLASP2 0 genome.wustl.edu 37 3 33644481 33644481 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 33644481 33644481 A G SNP CLASP2 ENST00000399362 human ensembl 74_37 -1 known silent c.1887 p.G629 0.354 superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors CLASP2 HGNC ENSG00000163539 24 0 0 25 2 7.40741 EPM2AIP1 0 genome.wustl.edu 37 3 37033859 37033859 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 37033859 37033859 C T SNP EPM2AIP1 ENST00000322716 human ensembl 74_37 -1 known missense c.710 p.S237N 0.823 NULL NULL - no_errors EPM2AIP1 HGNC ENSG00000178567 202 0 0 169 12 6.62983 SCN10A 0 genome.wustl.edu 37 3 38793834 38793834 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 38793834 38793834 C A SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.1631 p.G544V 0.001 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 93 0 0 96 9 8.57143 ZNF619 0 genome.wustl.edu 37 3 40529635 40529635 + Missense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 40529635 40529635 A T SNP ZNF619 ENST00000447116 human ensembl 74_37 +1 known missense c.1754 p.N585I 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 ZNF619 HGNC ENSG00000177873 162 0 0 134 26 16.25 CTNNB1 0 genome.wustl.edu 37 3 41265566 41265566 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 41265566 41265566 A G SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.7 p.T3A 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 132 0 0 89 24 21.2389 VIPR1 0 genome.wustl.edu 37 3 42568962 42568962 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 42568962 42568962 C T SNP VIPR1 ENST00000325123 human ensembl 74_37 +1 known silent c.477 p.V159 0.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_1,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR1 HGNC ENSG00000114812 59 0 0 52 15 22.3881 CCR2 0 genome.wustl.edu 37 3 46399125 46399125 + Missense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 46399125 46399125 A T SNP CCR2 ENST00000292301 human ensembl 74_37 +1 known missense c.107 p.D36V 0.000 prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 176 0 0 150 40 21.0526 SETD2 0 genome.wustl.edu 37 3 47147551 47147551 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 47147551 47147551 C T SNP SETD2 ENST00000409792 human ensembl 74_37 -1 known missense c.4775 p.R1592Q 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SRI,pfam_SET_dom,pfam_WW_dom,superfamily_WW_dom,superfamily_Ferritin-like_SF,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_dom,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_dom - no_errors SETD2 HGNC ENSG00000181555 106 0 0 63 19 23.1707 PTPN23 0 genome.wustl.edu 37 3 47449946 47449946 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 47449946 47449946 C T SNP PTPN23 ENST00000265562 human ensembl 74_37 +1 known silent c.1296 p.P432 0.226 NULL pfam_BRO1_dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_BRO1_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN23 HGNC ENSG00000076201 54 0 0 56 11 16.4179 PLXNB1 0 genome.wustl.edu 37 3 48454291 48454291 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 48454291 48454291 C T SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4714 p.A1572T 1.000 pfam_Plexin_cytoplasmic_RasGAP_dom pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,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 PLXNB1 HGNC ENSG00000164050 83 0 0 61 10 14.0845 COL7A1 0 genome.wustl.edu 37 3 48612948 48612948 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 48612948 48612948 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.6004 p.R2002C 0.848 pfam_Collagen pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 36 0 0 44 10 18.5185 COL7A1 0 genome.wustl.edu 37 3 48628240 48628240 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 48628240 48628240 C T SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.1646 p.R549Q 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 57 0 0 65 15 18.75 AMIGO3 0 genome.wustl.edu 37 3 49755668 49755668 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 49755668 49755668 G A SNP AMIGO3 ENST00000320431 human ensembl 74_37 -1 known missense c.1231 p.R411C 0.753 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors AMIGO3 HGNC ENSG00000176020 65 0 0 61 22 26.506 DNAH1 0 genome.wustl.edu 37 3 52395698 52395698 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 52395698 52395698 C T SNP DNAH1 ENST00000420323 human ensembl 74_37 +1 known silent c.4896 p.F1632 0.978 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase - no_errors DNAH1 HGNC ENSG00000114841 18 0 0 12 5 29.4118 ITIH3 0 genome.wustl.edu 37 3 52841006 52841006 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 52841006 52841006 G A SNP ITIH3 ENST00000449956 human ensembl 74_37 +1 known missense c.2146 p.A716T 0.112 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH3 HGNC ENSG00000162267 14 0 0 11 4 26.6667 ITIH4 0 genome.wustl.edu 37 3 52853813 52853813 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 52853813 52853813 G A SNP ITIH4 ENST00000485816 human ensembl 74_37 -1 novel silent c.1923 p.H641 0.000 NULL pfam_VIT,pfam_ITI_HC_C,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH4 HGNC ENSG00000055955 177 0 0 147 33 18.3333 CHDH 0 genome.wustl.edu 37 3 53857838 53857838 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 53857838 53857838 G A SNP CHDH ENST00000315251 human ensembl 74_37 -1 known silent c.198 p.R66 0.000 pfam_GMC_OxRdtase_N,pirsf_GMC_OxRdtase pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase - no_errors CHDH HGNC ENSG00000016391 16 0 0 11 3 21.4286 ACTR8 0 genome.wustl.edu 37 3 53911269 53911269 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 53911269 53911269 T C SNP ACTR8 ENST00000335754 human ensembl 74_37 -1 known missense c.656 p.Y219C 0.999 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR8 HGNC ENSG00000113812 119 0 0 51 24 32 ABHD6 0 genome.wustl.edu 37 3 58279408 58279408 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 58279408 58279408 G A SNP ABHD6 ENST00000295962 human ensembl 74_37 +1 known missense c.930 p.M310I 1.000 pfam_AB_hydrolase_1,pfam_Ndr,prints_Epox_hydrolase-like pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 82 0 0 76 15 16.4835 ADAMTS9 0 genome.wustl.edu 37 3 64619404 64619404 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 64619404 64619404 T C SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.2008 p.N670D 0.052 NULL pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 289 0 0 247 42 14.5329 FAM19A4 0 genome.wustl.edu 37 3 68788325 68788325 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 68788325 68788325 C G SNP FAM19A4 ENST00000295569 human ensembl 74_37 -1 known missense c.312 p.W104C 1.000 pfam_Chemokine-like_FAM19A2 pfam_Chemokine-like_FAM19A2 - no_errors FAM19A4 HGNC ENSG00000163377 124 0 0 68 19 21.8391 EOGT 0 genome.wustl.edu 37 3 69027566 69027566 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 69027566 69027566 C T SNP EOGT ENST00000383701 human ensembl 74_37 -1 known missense c.1355 p.R452H 1.000 NULL pfam_Glycosyltransferase_AER61 - no_errors EOGT HGNC ENSG00000163378 103 0 0 86 5 5.49451 ROBO2 0 genome.wustl.edu 37 3 77147272 77147272 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 77147272 77147272 C T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.169 p.R57W 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 54 0 0 35 17 32.6923 HTR1F 0 genome.wustl.edu 37 3 88040785 88040785 + Nonsense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 88040785 88040785 G T SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known nonsense c.886 p.G296* 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 57 0 0 43 4 8.51064 SRGAP3 0 genome.wustl.edu 37 3 9027355 9027355 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 9027355 9027355 C T SNP SRGAP3 ENST00000383836 human ensembl 74_37 -1 known missense c.3148 p.A1050T 0.994 NULL pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors SRGAP3 HGNC ENSG00000196220 30 0 0 38 18 32.1429 ARL13B 0 genome.wustl.edu 37 3 93768344 93768344 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 93768344 93768344 G A SNP ARL13B ENST00000394222 human ensembl 74_37 +1 known silent c.1119 p.T373 0.759 NULL pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_SAR1,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom - no_errors ARL13B HGNC ENSG00000169379 109 0 0 72 18 20 MTMR14 0 genome.wustl.edu 37 3 9714373 9714373 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 9714373 9714373 A G SNP MTMR14 ENST00000296003 human ensembl 74_37 +1 known missense c.682 p.T228A 1.000 NULL NULL - no_errors MTMR14 HGNC ENSG00000163719 117 0 0 73 28 27.7228 MANBA 0 genome.wustl.edu 37 4 103557139 103557139 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 103557139 103557139 A G SNP MANBA ENST00000226578 human ensembl 74_37 -1 known silent c.2040 p.L680 0.973 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_2_N,pfam_Glyco_hydro_2_TIM,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,superfamily_Glyco_hydro_2_Ig-like - no_errors MANBA HGNC ENSG00000109323 59 0 0 42 9 17.6471 COL25A1 0 genome.wustl.edu 37 4 109740459 109740459 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 109740459 109740459 T C SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known silent c.1872 p.K624 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 71 0 0 79 12 13.1868 AP1AR 0 genome.wustl.edu 37 4 113189433 113189433 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 113189433 113189433 G A SNP AP1AR ENST00000274000 human ensembl 74_37 +1 known silent c.777 p.E259 1.000 NULL NULL - no_errors AP1AR HGNC ENSG00000138660 101 0 0 53 8 13.1148 HS3ST1 0 genome.wustl.edu 37 4 11401356 11401356 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 11401356 11401356 A G SNP HS3ST1 ENST00000002596 human ensembl 74_37 -1 known missense c.274 p.W92R 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST1 HGNC ENSG00000002587 86 0 0 113 6 5.04202 KIAA1109 0 genome.wustl.edu 37 4 123120577 123120577 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 123120577 123120577 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.1352 p.R451Q 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 118 0 0 67 4 5.6338 FAT4 0 genome.wustl.edu 37 4 126238469 126238469 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 126238469 126238469 G T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.903 p.E301D 0.155 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 35 0 0 50 10 16.6667 FAT4 0 genome.wustl.edu 37 4 126320048 126320048 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 126320048 126320048 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5285 p.L1762P 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 159 0 0 103 26 20.155 FAT4 0 genome.wustl.edu 37 4 126329902 126329902 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 126329902 126329902 C A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.5873 p.P1958H 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 218 0 0 101 15 12.931 FAT4 0 genome.wustl.edu 37 4 126371861 126371861 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 126371861 126371861 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.9690 p.A3230 0.006 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 91 0 0 51 12 19.0476 HSPA4L 0 genome.wustl.edu 37 4 128748490 128748490 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 128748490 128748490 A G SNP HSPA4L ENST00000439123 human ensembl 74_37 +1 known missense c.2170 p.M724V 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4L HGNC ENSG00000164070 129 0 0 71 5 6.57895 MAEA 0 genome.wustl.edu 37 4 1332301 1332301 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 1332301 1332301 G A SNP MAEA ENST00000303400 human ensembl 74_37 +1 known missense c.991 p.A331T 1.000 NULL smart_LisH_dimerisation,smart_CTLH_C,smart_CRA_dom,pfscan_LisH_dimerisation,pfscan_CTLH_C - no_errors MAEA HGNC ENSG00000090316 38 0 0 51 5 8.92857 HHIP 0 genome.wustl.edu 37 4 145629358 145629358 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 145629358 145629358 C G SNP HHIP ENST00000296575 human ensembl 74_37 +1 known missense c.1196 p.T399R 1.000 superfamily_Quinoprot_gluc/sorb_DH pfam_Folate_rcpt-like,superfamily_Quinoprot_gluc/sorb_DH,smart_EG-like_dom,pfscan_EG-like_dom - no_errors HHIP HGNC ENSG00000164161 70 0 0 57 12 17.3913 NR3C2 0 genome.wustl.edu 37 4 149035413 149035413 + Splice_Site SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 149035413 149035413 C A SNP NR3C2 ENST00000355292 human ensembl 74_37 -1 known splice_site c.2654-1 e7-1 1.000 - - - no_errors NR3C2 HGNC ENSG00000151623 41 0 0 28 3 9.67742 C1QTNF7 0 genome.wustl.edu 37 4 15437604 15437604 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 15437604 15437604 A G SNP C1QTNF7 ENST00000429690 human ensembl 74_37 +1 known silent c.237 p.A79 1.000 pfam_Collagen pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q,prints_C1q - no_errors C1QTNF7 HGNC ENSG00000163145 58 0 0 40 9 18.3673 TKTL2 0 genome.wustl.edu 37 4 164394017 164394017 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 164394017 164394017 T C SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.870 p.P290 0.000 NULL pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 229 1 0.434783 155 42 21.3198 ADAM29 0 genome.wustl.edu 37 4 175898280 175898280 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 175898280 175898280 G A SNP ADAM29 ENST00000359240 human ensembl 74_37 +1 known missense c.1604 p.G535D 0.965 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM29 HGNC ENSG00000168594 90 0 0 72 17 19.1011 TENM3 0 genome.wustl.edu 37 4 183658156 183658156 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 183658156 183658156 T G SNP TENM3 ENST00000406950 human ensembl 74_37 +1 known missense c.3163 p.L1055V 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Cyt_c-like_dom,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM3 HGNC ENSG00000218336 210 0 0 130 38 22.619 MTNR1A 0 genome.wustl.edu 37 4 187455686 187455686 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 187455686 187455686 C T SNP MTNR1A ENST00000307161 human ensembl 74_37 -1 known silent c.210 p.A70 0.015 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melatonin_rcpt,prints_GPCR_Rhodpsn,prints_Mel_1A_rcpt,prints_NPY_rcpt,prints_Mel_rcpt_1C - no_errors MTNR1A HGNC ENSG00000168412 72 0 0 61 8 11.5942 SLIT2 0 genome.wustl.edu 37 4 20599972 20599972 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 20599972 20599972 C T SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known missense c.3646 p.R1216C 0.736 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G 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 163 0 0 136 20 12.8205 TBC1D1 0 genome.wustl.edu 37 4 38016279 38016279 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 38016279 38016279 G A SNP TBC1D1 ENST00000261439 human ensembl 74_37 +1 known silent c.567 p.P189 0.245 smart_PTB/PI_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D1 HGNC ENSG00000065882 155 0 0 135 38 21.9653 KLF3 0 genome.wustl.edu 37 4 38698768 38698768 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 38698768 38698768 A G SNP KLF3 ENST00000261438 human ensembl 74_37 +1 known missense c.922 p.T308A 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF3 HGNC ENSG00000109787 140 0 0 139 8 5.44218 GRXCR1 0 genome.wustl.edu 37 4 43032469 43032469 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 43032469 43032469 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.785 p.R262Q 1.000 superfamily_HSP_DnaJ_Cys-rich_dom pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 194 1 0.512821 114 36 24 EVC2 0 genome.wustl.edu 37 4 5664972 5664972 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 5664972 5664972 A C SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known missense c.1007 p.V336G 0.034 pfam_Limbin pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 137 0 0 82 19 18.8119 TMPRSS11D 0 genome.wustl.edu 37 4 68691524 68691524 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 68691524 68691524 G A SNP TMPRSS11D ENST00000283916 human ensembl 74_37 -1 known missense c.1021 p.H341Y 0.000 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_HAT/DESC1,pfam_Peptidase_S1,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_SEA_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_SEA_dom,pfscan_Peptidase_S1 - no_errors TMPRSS11D HGNC ENSG00000153802 116 0 0 51 15 22.7273 TBC1D14 0 genome.wustl.edu 37 4 6925517 6925517 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 6925517 6925517 G A SNP TBC1D14 ENST00000409757 human ensembl 74_37 +1 known missense c.401 p.G134D 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D14 HGNC ENSG00000132405 166 0 0 149 52 25.8706 UGT2A3 0 genome.wustl.edu 37 4 69795654 69795654 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 69795654 69795654 G A SNP UGT2A3 ENST00000251566 human ensembl 74_37 -1 known silent c.1461 p.Y487 0.942 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2A3 HGNC ENSG00000135220 132 0 0 102 18 15 CCDC158 0 genome.wustl.edu 37 4 77283362 77283362 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 77283362 77283362 C T SNP CCDC158 ENST00000388914 human ensembl 74_37 -1 known missense c.1937 p.R646H 0.978 NULL superfamily_Prefoldin - no_errors CCDC158 HGNC ENSG00000163749 156 0 0 96 29 23.2 PRKG2 0 genome.wustl.edu 37 4 82063969 82063969 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 82063969 82063969 A G SNP PRKG2 ENST00000264399 human ensembl 74_37 -1 known silent c.1386 p.G462 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 324 0 0 212 56 20.8955 CDS1 0 genome.wustl.edu 37 4 85525440 85525440 + Silent SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 85525440 85525440 A C SNP CDS1 ENST00000295887 human ensembl 74_37 +1 known silent c.162 p.T54 0.402 pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS1 HGNC ENSG00000163624 85 0 0 55 12 17.9104 WDFY3 0 genome.wustl.edu 37 4 85636503 85636503 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 85636503 85636503 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.7909 p.R2637W 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 151 0 0 74 24 24.4898 AFF1 0 genome.wustl.edu 37 4 88053502 88053502 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 88053502 88053502 A G SNP AFF1 ENST00000395146 human ensembl 74_37 +1 known missense c.3253 p.N1085D 0.752 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF1 HGNC ENSG00000172493 115 0 0 52 13 20 SNCA 0 genome.wustl.edu 37 4 90743423 90743423 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 90743423 90743423 A C SNP SNCA ENST00000336904 human ensembl 74_37 -1 known missense c.280 p.F94V 1.000 pfam_Synuclein,prints_Synuclein,prints_Synuclein_alpha,prints_Synuclein_gamma pfam_Synuclein,prints_Synuclein,prints_Synuclein_alpha,prints_Synuclein_gamma - no_errors SNCA HGNC ENSG00000145335 105 0 0 82 5 5.74713 UNC5C 0 genome.wustl.edu 37 4 96140152 96140152 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 96140152 96140152 G A SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known missense c.1613 p.S538L 0.998 pfam_ZU5,smart_ZU5,pfscan_ZU5 pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 125 0 0 72 19 20.8791 DRD5 0 genome.wustl.edu 37 4 9784677 9784677 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 9784677 9784677 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.1024 p.D342N 0.985 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 140 0 0 116 31 21.0884 SLC12A7 0 genome.wustl.edu 37 5 1052501 1052501 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 1052501 1052501 G A SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.3226 p.R1076W 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 149 0 0 119 31 20.6667 SLC12A7 0 genome.wustl.edu 37 5 1081737 1081737 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 1081737 1081737 C T SNP SLC12A7 ENST00000264930 human ensembl 74_37 -1 known missense c.1252 p.A418T 0.996 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A7 HGNC ENSG00000113504 76 0 0 85 15 15 ZRSR1 0 genome.wustl.edu 37 5 112227455 112227455 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 112227455 112227455 T G SNP ZRSR1 ENST00000391338 human ensembl 74_37 +1 known missense c.119 p.L40R 0.215 NULL pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small - no_errors ZRSR1 HGNC ENSG00000212643 59 0 0 53 20 27.3973 SLC6A19 0 genome.wustl.edu 37 5 1212545 1212545 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 1212545 1212545 C T SNP SLC6A19 ENST00000515652 human ensembl 74_37 +1 known missense c.517 p.R173C 0.001 NULL pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport - no_errors SLC6A19 HGNC ENSG00000174358 102 0 0 122 21 14.6853 CDKL3 0 genome.wustl.edu 37 5 133644013 133644013 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 133644013 133644013 T C SNP CDKL3 ENST00000265334 human ensembl 74_37 -1 known missense c.1180 p.M394V 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL3 HGNC ENSG00000006837 103 0 0 73 4 5.19481 DNAH5 0 genome.wustl.edu 37 5 13700841 13700841 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 13700841 13700841 C T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.13631 p.G4544D 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 185 0 0 144 36 20 PCDHA8 0 genome.wustl.edu 37 5 140223021 140223021 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 140223021 140223021 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.2115 p.C705 0.907 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 49 0 0 31 43 58.1081 PCDHA11 0 genome.wustl.edu 37 5 140250465 140250465 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 140250465 140250465 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1777 p.V593M 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA11 HGNC ENSG00000249158 139 0 0 145 40 21.6216 PCDHGB3 0 genome.wustl.edu 37 5 140750133 140750133 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 140750133 140750133 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.172 p.V58M 0.000 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 202 1 0.492611 174 10 5.43478 PCDHGB6 0 genome.wustl.edu 37 5 140789324 140789324 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 140789324 140789324 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known missense c.1555 p.A519T 0.998 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 30 0 0 43 6 12.2449 PCDHGB6 0 genome.wustl.edu 37 5 140789386 140789386 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 140789386 140789386 G A SNP PCDHGB6 ENST00000520790 human ensembl 74_37 +1 known silent c.1617 p.S539 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB6 HGNC ENSG00000253305 17 0 0 24 6 20 PCDHGA10 0 genome.wustl.edu 37 5 140793850 140793850 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 140793850 140793850 G A SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known missense c.1108 p.V370I 0.994 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 45 0 0 30 10 25 PCDHGC3 0 genome.wustl.edu 37 5 140856242 140856242 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 140856242 140856242 C T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.559 p.R187W 0.996 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 57 0 0 51 20 28.169 LARS 0 genome.wustl.edu 37 5 145552290 145552290 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 145552290 145552290 C T SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.173 p.R58H 1.000 pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 59 0 0 18 4 18.1818 ADRB2 0 genome.wustl.edu 37 5 148206748 148206748 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 148206748 148206748 G A SNP ADRB2 ENST00000305988 human ensembl 74_37 +1 known silent c.354 p.T118 0.245 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRB2_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRB2 HGNC ENSG00000169252 147 0 0 93 37 28.4615 FAT2 0 genome.wustl.edu 37 5 150934154 150934154 + Missense_Mutation SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 150934154 150934154 A T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.3714 p.N1238K 0.733 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 164 0 0 124 25 16.7785 CCNJL 0 genome.wustl.edu 37 5 159680577 159680577 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 159680577 159680577 C T SNP CCNJL ENST00000393977 human ensembl 74_37 -1 known silent c.1116 p.G372 0.064 NULL pfam_Cyclin_C-dom,pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNJL HGNC ENSG00000135083 67 0 0 76 5 6.17284 TENM2 0 genome.wustl.edu 37 5 167489118 167489118 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 167489118 167489118 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1363 p.R455W 0.940 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 46 0 0 48 6 11.1111 CREBRF 0 genome.wustl.edu 37 5 172513527 172513527 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 172513527 172513527 G A SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known silent c.33 p.P11 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 140 1 0.70922 80 22 21.5686 CDHR2 0 genome.wustl.edu 37 5 176018287 176018287 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 176018287 176018287 C A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.3616 p.P1206T 0.005 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 69 0 0 54 16 22.8571 DBN1 0 genome.wustl.edu 37 5 176885640 176885640 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 176885640 176885640 C T SNP DBN1 ENST00000292385 human ensembl 74_37 -1 known missense c.1201 p.G401S 0.000 NULL pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin - no_errors DBN1 HGNC ENSG00000113758 25 0 0 27 3 10 ZNF354A 0 genome.wustl.edu 37 5 178139186 178139186 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 178139186 178139186 G A SNP ZNF354A ENST00000335815 human ensembl 74_37 -1 known missense c.1693 p.R565C 0.342 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 ZNF354A HGNC ENSG00000169131 128 0 0 75 21 21.875 ADAMTS2 0 genome.wustl.edu 37 5 178540988 178540988 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 178540988 178540988 A G SNP ADAMTS2 ENST00000251582 human ensembl 74_37 -1 known silent c.3516 p.D1172 0.003 NULL pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS2,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS2 HGNC ENSG00000087116 170 0 0 149 42 21.9895 FLT4 0 genome.wustl.edu 37 5 180055888 180055888 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 180055888 180055888 A G SNP FLT4 ENST00000261937 human ensembl 74_37 -1 known missense c.1097 p.F366S 0.998 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_VEGFR3_rcpt - no_errors FLT4 HGNC ENSG00000037280 48 0 0 42 12 22.2222 PTGER4 0 genome.wustl.edu 37 5 40692308 40692308 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 40692308 40692308 G A SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.1295 p.R432K 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 51 0 0 53 3 5.35714 MIER3 0 genome.wustl.edu 37 5 56219756 56219756 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 56219756 56219756 A G SNP MIER3 ENST00000381199 human ensembl 74_37 -1 known silent c.1038 p.H346 1.000 NULL pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors MIER3 HGNC ENSG00000155545 110 0 0 76 18 19.1489 CD180 0 genome.wustl.edu 37 5 66478959 66478959 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 66478959 66478959 G A SNP CD180 ENST00000256447 human ensembl 74_37 -1 known missense c.1712 p.T571I 0.884 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors CD180 HGNC ENSG00000134061 57 0 0 53 7 11.6667 FASTKD3 0 genome.wustl.edu 37 5 7861317 7861317 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 7861317 7861317 C T SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known missense c.1829 p.G610E 1.000 pfam_RAP,smart_RAP pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 127 0 0 70 6 7.89474 FASTKD3 0 genome.wustl.edu 37 5 7868079 7868079 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 7868079 7868079 G A SNP FASTKD3 ENST00000264669 human ensembl 74_37 -1 known missense c.118 p.R40C 0.000 NULL pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTKD3 HGNC ENSG00000124279 130 0 0 98 25 20.3252 RASA1 0 genome.wustl.edu 37 5 86672770 86672770 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 86672770 86672770 G A SNP RASA1 ENST00000274376 human ensembl 74_37 +1 known missense c.2257 p.A753T 1.000 superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_SH2,pfam_RasGAP,pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_C2_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH2,smart_SH3_domain,smart_Pleckstrin_homology,smart_C2_dom,smart_RasGAP,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_RasGAP,prints_SH2 - no_errors RASA1 HGNC ENSG00000145715 124 0 0 73 5 6.41026 SEMA5A 0 genome.wustl.edu 37 5 9054362 9054362 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 9054362 9054362 G A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.2526 p.G842 0.034 superfamily_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 48 0 0 36 6 14.2857 ASCC3 0 genome.wustl.edu 37 6 101037585 101037585 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 101037585 101037585 C T SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known silent c.5475 p.K1825 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 189 0 0 87 10 10.3093 ASCC3 0 genome.wustl.edu 37 6 101100601 101100601 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 101100601 101100601 C A SNP ASCC3 ENST00000369162 human ensembl 74_37 -1 known missense c.2988 p.E996D 1.000 pfam_Sec63-dom,smart_Sec63-dom pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 44 0 0 20 10 33.3333 FIG4 0 genome.wustl.edu 37 6 110037748 110037748 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 110037748 110037748 C T SNP FIG4 ENST00000230124 human ensembl 74_37 +1 known missense c.266 p.A89V 1.000 NULL pfam_Syja_N,pfscan_Syja_N - no_errors FIG4 HGNC ENSG00000112367 225 1 0.442478 144 30 17.2414 NEDD9 0 genome.wustl.edu 37 6 11185718 11185718 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 11185718 11185718 C T SNP NEDD9 ENST00000379446 human ensembl 74_37 -1 known missense c.2182 p.A728T 1.000 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NEDD9 HGNC ENSG00000111859 128 1 0.775194 99 22 18.1818 CEP85L 0 genome.wustl.edu 37 6 118953732 118953732 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 118953732 118953732 A C SNP CEP85L ENST00000368488 human ensembl 74_37 -1 known missense c.125 p.L42W 0.986 NULL NULL - no_errors CEP85L HGNC ENSG00000111860 81 0 0 42 12 22.2222 MAN1A1 0 genome.wustl.edu 37 6 119569513 119569513 + Nonsense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 119569513 119569513 G A SNP MAN1A1 ENST00000368468 human ensembl 74_37 -1 known nonsense c.904 p.R302* 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1A1 HGNC ENSG00000111885 58 0 0 20 8 28.5714 HBS1L 0 genome.wustl.edu 37 6 135318743 135318743 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 135318743 135318743 C T SNP HBS1L ENST00000367837 human ensembl 74_37 -1 known silent c.591 p.P197 0.000 NULL pfam_HBS1-like_N,pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom - no_errors HBS1L HGNC ENSG00000112339 163 0 0 110 37 25.1701 MYB 0 genome.wustl.edu 37 6 135507123 135507123 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 135507123 135507123 C T SNP MYB ENST00000341911 human ensembl 74_37 +1 known missense c.106 p.R36C 1.000 pfscan_Myb-like_dom pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYB HGNC ENSG00000118513 76 0 0 51 17 25 SLC35D3 0 genome.wustl.edu 37 6 137245806 137245806 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 137245806 137245806 T C SNP SLC35D3 ENST00000331858 human ensembl 74_37 +1 known missense c.1223 p.I408T 1.000 NULL pfam_Tpt_PEP_trans_dom - no_errors SLC35D3 HGNC ENSG00000182747 78 0 0 41 19 31.6667 SYNE1 0 genome.wustl.edu 37 6 152680514 152680514 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 152680514 152680514 T C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.10379 p.Y3460C 1.000 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 150 0 0 112 6 5.08475 C6orf118 0 genome.wustl.edu 37 6 165715776 165715776 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 165715776 165715776 T G SNP C6orf118 ENST00000230301 human ensembl 74_37 -1 known missense c.35 p.K12T 0.000 NULL superfamily_Ribonuclease/ribotoxin - no_errors C6orf118 HGNC ENSG00000112539 99 0 0 72 24 25 T 0 genome.wustl.edu 37 6 166580221 166580221 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 166580221 166580221 C T SNP T ENST00000296946 human ensembl 74_37 -1 known silent c.330 p.V110 1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,pfscan_TF_T-box pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,prints_TF_Brachyury,prints_TF_T-box,pfscan_TF_T-box - no_errors T HGNC ENSG00000164458 73 0 0 85 6 6.59341 DLL1 0 genome.wustl.edu 37 6 170597536 170597536 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 170597536 170597536 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known missense c.461 p.T154M 0.981 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_DSL,pfscan_EG-like_dom - no_errors DLL1 HGNC ENSG00000198719 51 0 0 34 13 27.6596 LRRC16A 0 genome.wustl.edu 37 6 25492198 25492198 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 25492198 25492198 G A SNP LRRC16A ENST00000329474 human ensembl 74_37 +1 novel missense c.1166 p.G389E 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16A HGNC ENSG00000079691 73 0 0 52 4 7.14286 SLC17A2 0 genome.wustl.edu 37 6 25924033 25924033 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 25924033 25924033 C T SNP SLC17A2 ENST00000377850 human ensembl 74_37 -1 known missense c.130 p.A44T 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 150 0 0 129 7 5.14706 HIST1H3E 0 genome.wustl.edu 37 6 26225388 26225388 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 26225388 26225388 G A SNP HIST1H3E ENST00000360408 human ensembl 74_37 +1 known silent c.6 p.A2 0.094 superfamily_Histone-fold pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3E HGNC ENSG00000196966 128 0 0 120 15 11.1111 BTN3A1 0 genome.wustl.edu 37 6 26413715 26413715 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 26413715 26413715 A C SNP BTN3A1 ENST00000289361 human ensembl 74_37 +1 known missense c.1337 p.E446A 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like_dom - no_errors BTN3A1 HGNC ENSG00000026950 162 0 0 116 31 21.0884 HIST1H2AL 0 genome.wustl.edu 37 6 27833264 27833264 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 27833264 27833264 C T SNP HIST1H2AL ENST00000357320 human ensembl 74_37 +1 known silent c.132 p.V44 0.608 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AL HGNC ENSG00000198374 119 0 0 130 25 16.129 NKAPL 0 genome.wustl.edu 37 6 28227239 28227239 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 28227239 28227239 G A SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known silent c.90 p.P30 0.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 58 0 0 54 16 22.8571 TRIM10 0 genome.wustl.edu 37 6 30121851 30121851 + Silent SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 30121851 30121851 A C SNP TRIM10 ENST00000449742 human ensembl 74_37 -1 known silent c.1341 p.A447 0.231 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM10 HGNC ENSG00000204613 51 0 0 54 10 15.625 PPP1R10 0 genome.wustl.edu 37 6 30572415 30572415 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 30572415 30572415 C T SNP PPP1R10 ENST00000376511 human ensembl 74_37 -1 known missense c.1052 p.R351H 0.997 NULL pfam_TFIIS_N,pfam_Znf_CCCH,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,smart_Znf_CCCH - no_errors PPP1R10 HGNC ENSG00000204569 387 0 0 362 20 5.2356 TUBB 0 genome.wustl.edu 37 6 30692147 30692147 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 30692147 30692147 C T SNP TUBB ENST00000327892 human ensembl 74_37 +1 known silent c.1308 p.F436 0.998 NULL pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB HGNC ENSG00000196230 59 0 0 55 8 12.6984 DDR1 0 genome.wustl.edu 37 6 30865936 30865936 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 30865936 30865936 C T SNP DDR1 ENST00000376575 human ensembl 74_37 +1 known missense c.2321 p.A774V 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,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR1 HGNC ENSG00000204580 64 0 0 68 5 6.84932 C6orf25 0 genome.wustl.edu 37 6 31691611 31691611 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 31691611 31691611 C G SNP C6orf25 ENST00000375806 human ensembl 74_37 +1 known missense c.257 p.S86C 0.022 NULL NULL - no_errors C6orf25 HGNC ENSG00000204420 130 0 0 118 40 25.3165 VARS 0 genome.wustl.edu 37 6 31752401 31752401 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 31752401 31752401 T C SNP VARS ENST00000375663 human ensembl 74_37 -1 known missense c.1438 p.T480A 0.999 pfam_aa-tRNA-synth_Ia,tigrfam_Valyl-tRNA_ligase pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Glutathione_S-Trfase_N,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_GST_C,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Glutathione-S-Trfase_C-like,superfamily_tRNA-bd_arm,prints_Valyl-tRNA_ligase,tigrfam_Valyl-tRNA_ligase - no_errors VARS HGNC ENSG00000204394 74 0 0 71 4 5.33333 TNXB 0 genome.wustl.edu 37 6 32037632 32037632 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 32037632 32037632 C T SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.5285 p.R1762Q 0.000 NULL 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 27 0 0 25 13 34.2105 NOTCH4 0 genome.wustl.edu 37 6 32190542 32190542 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 32190542 32190542 T C SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.197 p.D66G 1.000 pirsf_Notch,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH4 HGNC ENSG00000204301 46 0 0 38 15 28.3019 ITPR3 0 genome.wustl.edu 37 6 33654203 33654203 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 33654203 33654203 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.5886 p.H1962 0.327 pfam_RIH_assoc-dom,superfamily_ARM-type_fold pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 72 0 0 74 17 18.6813 UHRF1BP1 0 genome.wustl.edu 37 6 34825955 34825955 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 34825955 34825955 C A SNP UHRF1BP1 ENST00000192788 human ensembl 74_37 +1 known missense c.1822 p.L608I 1.000 NULL NULL - no_errors UHRF1BP1 HGNC ENSG00000065060 112 0 0 100 14 12.2807 ETV7 0 genome.wustl.edu 37 6 36334731 36334731 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 36334731 36334731 C T SNP ETV7 ENST00000340181 human ensembl 74_37 -1 known missense c.829 p.E277K 1.000 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV7 HGNC ENSG00000010030 212 1 0.469484 202 13 6.04651 CUL7 0 genome.wustl.edu 37 6 43020511 43020511 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 43020511 43020511 G A SNP CUL7 ENST00000535468 human ensembl 74_37 -1 known missense c.172 p.R58C 0.961 NULL pfam_Cullin_N,pfam_CPH_domain,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_Cullin_homology,superfamily_ARM-type_fold,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL7 HGNC ENSG00000044090 33 0 0 45 3 6.25 ENPP5 0 genome.wustl.edu 37 6 46135200 46135200 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 46135200 46135200 G T SNP ENPP5 ENST00000230565 human ensembl 74_37 -1 known missense c.800 p.S267Y 0.831 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors ENPP5 HGNC ENSG00000112796 172 0 0 132 27 16.9811 PKHD1 0 genome.wustl.edu 37 6 51890533 51890533 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 51890533 51890533 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.4075 p.L1359M 0.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 73 0 0 64 4 5.88235 KHDRBS2 0 genome.wustl.edu 37 6 62887150 62887150 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 62887150 62887150 G A SNP KHDRBS2 ENST00000281156 human ensembl 74_37 -1 known silent c.159 p.I53 1.000 NULL pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors KHDRBS2 HGNC ENSG00000112232 62 0 0 19 10 34.4828 RIMS1 0 genome.wustl.edu 37 6 72596740 72596740 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 72596740 72596740 T C SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.14 p.V5A 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 RIMS1 HGNC ENSG00000079841 34 0 0 23 7 23.3333 ZNF292 0 genome.wustl.edu 37 6 87965771 87965771 + Silent SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 87965771 87965771 T G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known silent c.2424 p.T808 0.998 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 28 0 0 21 6 22.2222 ZNF292 0 genome.wustl.edu 37 6 87967537 87967537 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 87967537 87967537 G A SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.4190 p.R1397Q 1.000 pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 95 0 0 91 21 18.75 ZNF292 0 genome.wustl.edu 37 6 87968758 87968758 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 87968758 87968758 A G SNP ZNF292 ENST00000369577 human ensembl 74_37 +1 known missense c.5411 p.N1804S 0.854 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 51 0 0 35 6 14.6341 MDN1 0 genome.wustl.edu 37 6 90382364 90382364 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 90382364 90382364 G A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.13532 p.A4511V 0.979 superfamily_ARM-type_fold,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 70 0 0 32 10 23.8095 MDN1 0 genome.wustl.edu 37 6 90433306 90433306 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 90433306 90433306 C A SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known missense c.5703 p.M1901I 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 40 0 0 13 6 31.5789 EPHB4 0 genome.wustl.edu 37 7 100410518 100410518 + Missense_Mutation SNP G G C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 100410518 100410518 G C SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known missense c.1969 p.Q657E 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB4 HGNC ENSG00000196411 182 0 0 191 39 16.9565 EPHB4 0 genome.wustl.edu 37 7 100416267 100416267 + Splice_Site SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 100416267 100416267 C G SNP EPHB4 ENST00000358173 human ensembl 74_37 -1 known splice_site c.1298-1 e7-1 1.000 - - - no_errors EPHB4 HGNC ENSG00000196411 28 0 0 28 7 20 FBXL13 0 genome.wustl.edu 37 7 102604067 102604067 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 102604067 102604067 C T SNP FBXL13 ENST00000313221 human ensembl 74_37 -1 known missense c.637 p.V213M 0.010 NULL smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL13 HGNC ENSG00000161040 110 0 0 79 7 8.13953 PSMC2 0 genome.wustl.edu 37 7 102996164 102996164 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 102996164 102996164 C A SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known missense c.214 p.L72M 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 86 0 0 67 9 11.8421 PNPLA8 0 genome.wustl.edu 37 7 108119718 108119718 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 108119718 108119718 G A SNP PNPLA8 ENST00000257694 human ensembl 74_37 -1 known missense c.1984 p.R662C 1.000 superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_ARM-type_fold - no_errors PNPLA8 HGNC ENSG00000135241 136 0 0 83 42 33.6 MET 0 genome.wustl.edu 37 7 116423356 116423356 + Splice_Site SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 116423356 116423356 A G SNP MET ENST00000318493 human ensembl 74_37 +1 known splice_site c.3687-2 e18-2 0.990 - - - no_errors MET HGNC ENSG00000105976 71 0 0 33 11 25 SPAM1 0 genome.wustl.edu 37 7 123593877 123593877 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 123593877 123593877 G A SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known missense c.253 p.G85R 0.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 70 0 0 49 22 30.9859 SPAM1 0 genome.wustl.edu 37 7 123594152 123594152 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 123594152 123594152 T C SNP SPAM1 ENST00000340011 human ensembl 74_37 +1 known silent c.528 p.N176 0.137 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors SPAM1 HGNC ENSG00000106304 54 0 0 33 20 37.7358 OPN1SW 0 genome.wustl.edu 37 7 128415177 128415177 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 128415177 128415177 C A SNP OPN1SW ENST00000249389 human ensembl 74_37 -1 known silent c.384 p.L128 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_blue,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 50 0 0 56 3 5.08475 SSMEM1 0 genome.wustl.edu 37 7 129847757 129847757 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 129847757 129847757 G T SNP SSMEM1 ENST00000297819 human ensembl 74_37 +1 known missense c.7 p.D3Y 1.000 NULL NULL - no_errors SSMEM1 HGNC ENSG00000165120 143 0 0 84 36 30 WDR91 0 genome.wustl.edu 37 7 134873256 134873256 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 134873256 134873256 A G SNP WDR91 ENST00000354475 human ensembl 74_37 -1 known missense c.1810 p.Y604H 0.974 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR91 HGNC ENSG00000105875 206 0 0 276 21 7.07071 SLC13A4 0 genome.wustl.edu 37 7 135370367 135370367 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 135370367 135370367 G T SNP SLC13A4 ENST00000354042 human ensembl 74_37 -1 known missense c.1508 p.A503D 1.000 pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM pfam_Na/sul_symport,pfam_Cit_transptr-like_dom,pfam_DctM - no_errors SLC13A4 HGNC ENSG00000164707 244 0 0 167 67 28.6325 DGKI 0 genome.wustl.edu 37 7 137075845 137075845 + RNA SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 137075845 137075845 G T SNP DGKI ENST00000477835 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors DGKI HGNC ENSG00000157680 16 0 0 29 4 12.1212 CREB3L2 0 genome.wustl.edu 37 7 137612997 137612997 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 137612997 137612997 G A SNP CREB3L2 ENST00000330387 human ensembl 74_37 -1 known missense c.218 p.P73L 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L2 HGNC ENSG00000182158 26 0 0 24 6 20 OR2F2 0 genome.wustl.edu 37 7 143632486 143632486 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 143632486 143632486 G A SNP OR2F2 ENST00000408955 human ensembl 74_37 +1 known missense c.161 p.R54Q 0.018 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2F2 HGNC ENSG00000221910 292 0 0 338 45 11.7493 ZNF786 0 genome.wustl.edu 37 7 148767858 148767858 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 148767858 148767858 G A SNP ZNF786 ENST00000491431 human ensembl 74_37 -1 known missense c.2006 p.T669M 0.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF786 HGNC ENSG00000197362 124 0 0 120 30 20 ZNF398 0 genome.wustl.edu 37 7 148876830 148876830 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 148876830 148876830 C T SNP ZNF398 ENST00000540950 human ensembl 74_37 +1 known silent c.1881 p.V627 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors ZNF398 HGNC ENSG00000197024 52 0 0 72 13 15.2941 ZNF467 0 genome.wustl.edu 37 7 149463148 149463148 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 149463148 149463148 G A SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known missense c.443 p.A148V 0.604 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 20 0 0 13 7 35 ZNF467 0 genome.wustl.edu 37 7 149463207 149463207 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 149463207 149463207 C T SNP ZNF467 ENST00000302017 human ensembl 74_37 -1 known silent c.384 p.G128 0.006 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF467 HGNC ENSG00000181444 50 0 0 48 12 20 GIMAP7 0 genome.wustl.edu 37 7 150217549 150217549 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 150217549 150217549 C T SNP GIMAP7 ENST00000313543 human ensembl 74_37 +1 known missense c.487 p.R163C 0.000 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP7 HGNC ENSG00000179144 62 0 0 73 6 7.59494 SLC4A2 0 genome.wustl.edu 37 7 150772823 150772823 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 150772823 150772823 G A SNP SLC4A2 ENST00000413384 human ensembl 74_37 +1 known missense c.3432 p.M1144I 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Anion_exchange,prints_Anion_exchange_2,tigrfam_HCO3_transpt_euk - no_errors SLC4A2 HGNC ENSG00000164889 69 0 0 52 37 41.573 FASTK 0 genome.wustl.edu 37 7 150774416 150774416 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 150774416 150774416 C T SNP FASTK ENST00000297532 human ensembl 74_37 -1 known silent c.1272 p.V424 0.991 pfam_FAST_2 pfam_FAST_2,pfam_FAST_Leu-rich,pfam_RAP,smart_RAP - no_errors FASTK HGNC ENSG00000164896 65 0 0 64 22 25.5814 ASB10 0 genome.wustl.edu 37 7 150883648 150883648 + Nonsense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 150883648 150883648 G A SNP ASB10 ENST00000422024 human ensembl 74_37 -1 known nonsense c.550 p.R184* 0.158 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB10 HGNC ENSG00000146926 16 0 0 15 6 28.5714 DPP6 0 genome.wustl.edu 37 7 154681010 154681010 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 154681010 154681010 C T SNP DPP6 ENST00000377770 human ensembl 74_37 +1 known missense c.2333 p.A778V 0.006 pfam_Peptidase_S9 pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40 - no_errors DPP6 HGNC ENSG00000130226 42 0 0 25 9 26.4706 NOM1 0 genome.wustl.edu 37 7 156755705 156755705 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 156755705 156755705 C T SNP NOM1 ENST00000275820 human ensembl 74_37 +1 known missense c.1747 p.R583C 0.107 NULL pfam_Initiation_fac_eIF4g_MI,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI - no_errors NOM1 HGNC ENSG00000146909 31 0 0 37 6 13.9535 PTPRN2 0 genome.wustl.edu 37 7 157414084 157414084 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 157414084 157414084 G A SNP PTPRN2 ENST00000404321 human ensembl 74_37 -1 known missense c.2383 p.P795S 0.975 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN2 HGNC ENSG00000155093 277 0 0 308 78 20.2073 FERD3L 0 genome.wustl.edu 37 7 19184940 19184940 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 19184940 19184940 A C SNP FERD3L ENST00000275461 human ensembl 74_37 -1 known missense c.46 p.F16V 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors FERD3L HGNC ENSG00000146618 51 0 0 59 8 11.9403 OSBPL3 0 genome.wustl.edu 37 7 24839808 24839808 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 24839808 24839808 T C SNP OSBPL3 ENST00000313367 human ensembl 74_37 -1 known silent c.2658 p.L886 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL3 HGNC ENSG00000070882 45 0 0 27 4 12.9032 BRAT1 0 genome.wustl.edu 37 7 2578167 2578167 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 2578167 2578167 G A SNP BRAT1 ENST00000340611 human ensembl 74_37 -1 known missense c.2002 p.P668S 0.002 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors BRAT1 HGNC ENSG00000106009 21 0 0 15 8 34.7826 TRIL 0 genome.wustl.edu 37 7 28997405 28997405 + RNA SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 28997405 28997405 T G SNP TRIL ENST00000322982 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors TRIL HGNC ENSG00000176734 50 0 0 61 16 20.7792 CPVL 0 genome.wustl.edu 37 7 29105640 29105640 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 29105640 29105640 G A SNP CPVL ENST00000265394 human ensembl 74_37 -1 known missense c.962 p.T321M 0.982 pfam_Peptidase_S10 pfam_Peptidase_S10,prints_Peptidase_S10 - no_errors CPVL HGNC ENSG00000106066 89 0 0 66 13 16.4557 CARD11 0 genome.wustl.edu 37 7 2962848 2962848 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 2962848 2962848 G A SNP CARD11 ENST00000396946 human ensembl 74_37 -1 known missense c.2060 p.A687V 0.853 superfamily_PDZ pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 65 0 0 80 6 6.97674 DPY19L2P1 0 genome.wustl.edu 37 7 35131480 35131480 + RNA SNP A A T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 35131480 35131480 A T SNP DPY19L2P1 ENST00000436258 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors DPY19L2P1 HGNC ENSG00000189212 113 0 0 102 9 8.10811 ELMO1 0 genome.wustl.edu 37 7 36895150 36895150 + RNA SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 36895150 36895150 G A SNP ELMO1 ENST00000487843 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors ELMO1 HGNC ENSG00000155849 138 0 0 111 17 13.2812 ZMIZ2 0 genome.wustl.edu 37 7 44802877 44802877 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 44802877 44802877 C T SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known silent c.1725 p.G575 0.998 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 178 0 0 183 33 15.2778 TNS3 0 genome.wustl.edu 37 7 47344511 47344511 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 47344511 47344511 G A SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.2741 p.A914V 0.001 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 40 0 0 46 13 22.0339 AP5Z1 0 genome.wustl.edu 37 7 4830444 4830444 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 4830444 4830444 T C SNP AP5Z1 ENST00000348624 human ensembl 74_37 +1 known silent c.2079 p.C693 0.002 NULL NULL - no_errors AP5Z1 HGNC ENSG00000242802 24 0 0 24 3 11.1111 FBXL18 0 genome.wustl.edu 37 7 5540477 5540477 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 5540477 5540477 A G SNP FBXL18 ENST00000453700 human ensembl 74_37 -1 known missense c.1423 p.F475L 1.000 NULL pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXL18 HGNC ENSG00000155034 34 0 0 31 10 24.3902 ZNF733P 0 genome.wustl.edu 37 7 62752443 62752443 + RNA SNP G G C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 62752443 62752443 G C SNP ZNF733P ENST00000331425 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF733P HGNC ENSG00000185037 18 0 0 40 5 11.1111 KCTD7 0 genome.wustl.edu 37 7 66103382 66103382 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 66103382 66103382 C T SNP KCTD7 ENST00000275532 human ensembl 74_37 +1 known missense c.457 p.R153C 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 76 0 0 89 13 12.7451 FZD9 0 genome.wustl.edu 37 7 72849399 72849399 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 72849399 72849399 C T SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known silent c.1062 p.H354 1.000 pfam_Frizzled,pfscan_GPCR_2-like pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 62 0 0 97 6 5.82524 WBSCR28 0 genome.wustl.edu 37 7 73275584 73275584 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 73275584 73275584 G A SNP WBSCR28 ENST00000320531 human ensembl 74_37 +1 known silent c.60 p.R20 0.042 NULL NULL - no_errors WBSCR28 HGNC ENSG00000175877 42 0 0 49 4 7.54717 CCDC146 0 genome.wustl.edu 37 7 76889459 76889459 + Nonsense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 76889459 76889459 C T SNP CCDC146 ENST00000285871 human ensembl 74_37 +1 known nonsense c.892 p.R298* 0.998 NULL NULL - no_errors CCDC146 HGNC ENSG00000135205 92 0 0 76 6 7.31707 SEMA3D 0 genome.wustl.edu 37 7 84702392 84702392 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 84702392 84702392 T C SNP SEMA3D ENST00000284136 human ensembl 74_37 -1 known silent c.381 p.E127 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Ig_V-set,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA3D HGNC ENSG00000153993 75 0 0 54 6 10 AKAP9 0 genome.wustl.edu 37 7 91631714 91631714 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 91631714 91631714 A G SNP AKAP9 ENST00000359028 human ensembl 74_37 +1 known missense c.2519 p.E840G 1.000 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 141 0 0 90 8 8.16327 COL1A2 0 genome.wustl.edu 37 7 94034179 94034179 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 94034179 94034179 G A SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.407 p.G136D 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 160 0 0 124 23 15.6463 ZNF655 0 genome.wustl.edu 37 7 99170985 99170985 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 99170985 99170985 T C SNP ZNF655 ENST00000424881 human ensembl 74_37 +1 known silent c.1359 p.S453 0.268 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 64 0 0 56 34 37.7778 CYP3A7 0 genome.wustl.edu 37 7 99315250 99315250 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 99315250 99315250 C T SNP CYP3A7 ENST00000336374 human ensembl 74_37 -1 known missense c.331 p.V111M 0.001 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 49 0 0 53 3 5.35714 TNFRSF11B 0 genome.wustl.edu 37 8 119941097 119941097 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 119941097 119941097 C T SNP TNFRSF11B ENST00000297350 human ensembl 74_37 -1 known missense c.472 p.A158T 1.000 pirsf_TNFR_11B,smart_TNFR/NGFR_Cys_rich_reg pirsf_TNFR_11B,pfam_TNFR/NGFR_Cys_rich_reg,pfam_Death_domain,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_11B,prints_TNFR_11,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF11B HGNC ENSG00000164761 127 0 0 95 21 18.1034 ADCY8 0 genome.wustl.edu 37 8 132051861 132051861 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 132051861 132051861 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.719 p.T240M 0.989 NULL pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 36 0 0 33 11 25 EPPK1 0 genome.wustl.edu 37 8 144946676 144946676 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 144946676 144946676 T G SNP EPPK1 ENST00000525985 human ensembl 74_37 -1 known missense c.746 p.E249A 0.749 NULL pfam_Plectin_repeat,smart_Plectin_repeat - no_errors EPPK1 HGNC ENSG00000227184 15 0 0 19 5 20.8333 PLEC 0 genome.wustl.edu 37 8 144994175 144994175 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 144994175 144994175 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10225 p.R3409C 0.991 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 106 0 0 132 7 5.03597 ZNF251 0 genome.wustl.edu 37 8 145948606 145948606 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 145948606 145948606 C T SNP ZNF251 ENST00000292562 human ensembl 74_37 -1 known missense c.439 p.V147M 0.002 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 91 0 0 87 18 17.1429 COMMD5 0 genome.wustl.edu 37 8 146076615 146076615 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 146076615 146076615 C A SNP COMMD5 ENST00000450361 human ensembl 74_37 -1 known missense c.109 p.A37S 0.999 NULL pfam_HCaRG - no_errors COMMD5 HGNC ENSG00000170619 111 0 0 124 29 18.9542 ZNF596 0 genome.wustl.edu 37 8 196026 196026 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 196026 196026 C T SNP ZNF596 ENST00000308811 human ensembl 74_37 +1 known silent c.1179 p.C393 0.167 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF596 HGNC ENSG00000172748 75 0 0 70 8 10.2564 MYOM2 0 genome.wustl.edu 37 8 2072088 2072088 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 2072088 2072088 G A SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known missense c.3692 p.C1231Y 1.000 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 38 0 0 24 6 20 TRIM35 0 genome.wustl.edu 37 8 27145611 27145611 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 27145611 27145611 C T SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.938 p.G313D 1.000 superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 62 0 0 73 9 10.9756 TRIM35 0 genome.wustl.edu 37 8 27151667 27151667 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 27151667 27151667 G A SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known missense c.692 p.T231M 0.557 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 112 0 0 73 15 17.0455 SCARA5 0 genome.wustl.edu 37 8 27779531 27779531 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 27779531 27779531 G A SNP SCARA5 ENST00000354914 human ensembl 74_37 -1 known missense c.473 p.A158V 0.214 NULL pfam_SRCR,pfam_Collagen,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors SCARA5 HGNC ENSG00000168079 9 0 0 4 5 55.5556 CSMD1 0 genome.wustl.edu 37 8 2836280 2836280 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 2836280 2836280 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.8423 p.R2808H 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 33 0 0 13 6 31.5789 DUSP4 0 genome.wustl.edu 37 8 29195908 29195908 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 29195908 29195908 C T SNP DUSP4 ENST00000240100 human ensembl 74_37 -1 known silent c.690 p.S230 0.267 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_MKP,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,smart_Tyr_Pase_cat,pirsf_MKP,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP - no_errors DUSP4 HGNC ENSG00000120875 89 0 0 64 11 14.6667 FGFR1 0 genome.wustl.edu 37 8 38275456 38275456 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 38275456 38275456 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known missense c.1577 p.A526V 0.997 pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 95 0 0 102 6 5.55556 POLB 0 genome.wustl.edu 37 8 42207582 42207582 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 42207582 42207582 G T SNP POLB ENST00000265421 human ensembl 74_37 +1 known missense c.319 p.G107C 1.000 pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X pfam_DNA_pol_lambd_fingers_domain,superfamily_DNA_pol_b-like_N,superfamily_DNA_pol_lambd_fingers_domain,smart_DNA-dir_DNA_pol_X,smart_Hlx-hairpin-Hlx_DNA-bd_motif,prints_DNA_pol_X_beta-like,prints_DNA_pol_X - no_errors POLB HGNC ENSG00000070501 89 0 0 76 4 5 HOOK3 0 genome.wustl.edu 37 8 42812260 42812260 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 42812260 42812260 C T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known silent c.492 p.V164 0.800 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 76 0 0 16 8 33.3333 HOOK3 0 genome.wustl.edu 37 8 42821647 42821647 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 42821647 42821647 C T SNP HOOK3 ENST00000307602 human ensembl 74_37 +1 known missense c.811 p.R271C 1.000 pfam_Hook-related_fam pfam_Hook-related_fam,superfamily_t-SNARE - no_errors HOOK3 HGNC ENSG00000168172 154 0 0 114 8 6.55738 MCM4 0 genome.wustl.edu 37 8 48874074 48874074 + Splice_Site SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 48874074 48874074 A C SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known splice_site c.71-2 e2-2 0.971 - - - no_errors MCM4 HGNC ENSG00000104738 65 0 0 64 4 5.88235 RB1CC1 0 genome.wustl.edu 37 8 53568774 53568774 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 53568774 53568774 G A SNP RB1CC1 ENST00000025008 human ensembl 74_37 -1 known silent c.3615 p.Y1205 0.951 NULL pfam_Autophagy-rel_p11 - no_errors RB1CC1 HGNC ENSG00000023287 201 0 0 126 33 20.7547 OPRK1 0 genome.wustl.edu 37 8 54147470 54147470 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 54147470 54147470 G A SNP OPRK1 ENST00000265572 human ensembl 74_37 -1 known silent c.459 p.S153 0.637 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Kappa_opi_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_Somatstn_rcpt,prints_NPY_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OPRK1 HGNC ENSG00000082556 51 0 0 51 8 13.5593 SLCO5A1 0 genome.wustl.edu 37 8 70585114 70585114 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 70585114 70585114 G A SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known missense c.2537 p.P846L 0.044 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 111 0 0 83 24 22.4299 SLCO5A1 0 genome.wustl.edu 37 8 70744651 70744651 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 70744651 70744651 C T SNP SLCO5A1 ENST00000260126 human ensembl 74_37 -1 known silent c.258 p.P86 0.708 NULL pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO5A1 HGNC ENSG00000137571 55 0 0 59 15 20.2703 TRPA1 0 genome.wustl.edu 37 8 72946517 72946517 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 72946517 72946517 A G SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2651 p.F884S 1.000 pfam_Ion_trans_dom pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 155 0 0 71 14 16.4706 PAG1 0 genome.wustl.edu 37 8 81897284 81897284 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 81897284 81897284 A G SNP PAG1 ENST00000220597 human ensembl 74_37 -1 known silent c.603 p.S201 0.000 NULL NULL - no_errors PAG1 HGNC ENSG00000076641 78 0 0 96 9 8.57143 ERI1 0 genome.wustl.edu 37 8 8865587 8865587 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 8865587 8865587 G A SNP ERI1 ENST00000250263 human ensembl 74_37 +1 known silent c.216 p.T72 0.027 NULL pfam_Exonuclease_RNaseT/DNA_pol3,pfam_SAP_dom,superfamily_RNaseH-like_dom,smart_SAP_dom,smart_Exonuclease,pfscan_SAP_dom - no_errors ERI1 HGNC ENSG00000104626 124 0 0 80 22 21.5686 MTERFD1 0 genome.wustl.edu 37 8 97269256 97269256 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 97269256 97269256 G A SNP MTERFD1 ENST00000287025 human ensembl 74_37 -1 known missense c.421 p.P141S 0.861 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD1 HGNC ENSG00000156469 82 0 0 47 5 9.61538 CYLC2 0 genome.wustl.edu 37 9 105767642 105767642 + Missense_Mutation SNP G G C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 105767642 105767642 G C SNP CYLC2 ENST00000374798 human ensembl 74_37 +1 known missense c.729 p.K243N 0.000 NULL NULL - no_errors CYLC2 HGNC ENSG00000155833 76 0 0 36 8 18.1818 ACTL7B 0 genome.wustl.edu 37 9 111617863 111617863 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 111617863 111617863 C A SNP ACTL7B ENST00000374667 human ensembl 74_37 -1 known missense c.348 p.K116N 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7B HGNC ENSG00000148156 66 0 0 52 7 11.8644 ACTL7A 0 genome.wustl.edu 37 9 111625161 111625161 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 111625161 111625161 C T SNP ACTL7A ENST00000333999 human ensembl 74_37 +1 known silent c.559 p.L187 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL7A HGNC ENSG00000187003 107 0 0 95 10 9.52381 PTPN3 0 genome.wustl.edu 37 9 112144725 112144725 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 112144725 112144725 G A SNP PTPN3 ENST00000374541 human ensembl 74_37 -1 known silent c.2385 p.T795 0.996 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-3/4,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_PDZ,pfam_Dual-sp_phosphatase_cat-dom,superfamily_FERM_central,superfamily_PDZ,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-3/4,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,prints_Ez/rad/moesin_like,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN3 HGNC ENSG00000070159 52 0 0 46 16 25.8065 KIAA0368 0 genome.wustl.edu 37 9 114138817 114138817 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 114138817 114138817 G A SNP KIAA0368 ENST00000259335 human ensembl 74_37 -1 known missense c.4493 p.A1498V 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA0368 HGNC ENSG00000136813 16 0 0 12 5 29.4118 SUSD1 0 genome.wustl.edu 37 9 114874015 114874015 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 114874015 114874015 G T SNP SUSD1 ENST00000374264 human ensembl 74_37 -1 known missense c.1090 p.P364T 0.384 NULL pfam_EGF-like_Ca-bd_dom,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD1 HGNC ENSG00000106868 83 0 0 78 15 16.129 DFNB31 0 genome.wustl.edu 37 9 117186703 117186703 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 117186703 117186703 C T SNP DFNB31 ENST00000362057 human ensembl 74_37 -1 known missense c.1327 p.A443T 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors DFNB31 HGNC ENSG00000095397 66 0 0 73 4 5.19481 TNFSF15 0 genome.wustl.edu 37 9 117552745 117552745 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 117552745 117552745 G A SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.743 p.A248V 1.000 pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 172 0 0 103 16 13.4454 PAPPA 0 genome.wustl.edu 37 9 119109445 119109445 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 119109445 119109445 C T SNP PAPPA ENST00000328252 human ensembl 74_37 +1 known silent c.3921 p.G1307 0.998 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_Notch_dom,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA HGNC ENSG00000182752 79 0 0 73 10 12.0482 CNTRL 0 genome.wustl.edu 37 9 123877367 123877367 + Splice_Site SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 123877367 123877367 A G SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known splice_site c.1346-2 e9-2 0.999 - - - no_errors CNTRL HGNC ENSG00000119397 86 0 0 50 16 24.2424 GAPVD1 0 genome.wustl.edu 37 9 128061329 128061329 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 128061329 128061329 T C SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known silent c.129 p.R43 0.232 NULL pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 57 0 0 39 4 9.30233 ZBTB43 0 genome.wustl.edu 37 9 129595476 129595476 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 129595476 129595476 C T SNP ZBTB43 ENST00000373457 human ensembl 74_37 +1 known missense c.688 p.P230S 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB43 HGNC ENSG00000169155 38 0 0 37 4 9.7561 ANGPTL2 0 genome.wustl.edu 37 9 129856048 129856048 + Silent SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 129856048 129856048 G T SNP ANGPTL2 ENST00000373425 human ensembl 74_37 -1 known silent c.975 p.G325 0.986 pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPTL2 HGNC ENSG00000136859 147 0 0 145 17 10.4938 GARNL3 0 genome.wustl.edu 37 9 130106617 130106617 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 130106617 130106617 A G SNP GARNL3 ENST00000373387 human ensembl 74_37 +1 known missense c.1355 p.Q452R 1.000 NULL pfam_Citron,pfam_Rap_GAP_dom,smart_Citron,pfscan_Rap_GAP_dom - no_errors GARNL3 HGNC ENSG00000136895 135 0 0 148 8 5.12821 ST6GALNAC6 0 genome.wustl.edu 37 9 130653119 130653119 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 130653119 130653119 C T SNP ST6GALNAC6 ENST00000291839 human ensembl 74_37 -1 known silent c.501 p.R167 1.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALNAC6 HGNC ENSG00000160408 46 0 0 37 14 27.451 CERCAM 0 genome.wustl.edu 37 9 131198024 131198024 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 131198024 131198024 C T SNP CERCAM ENST00000372838 human ensembl 74_37 +1 known missense c.1628 p.A543V 0.000 NULL pfam_Glyco_trans_25 - no_errors CERCAM HGNC ENSG00000167123 32 0 0 27 4 12.9032 SPTAN1 0 genome.wustl.edu 37 9 131386637 131386637 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 131386637 131386637 A G SNP SPTAN1 ENST00000358161 human ensembl 74_37 +1 known missense c.5863 p.K1955E 0.998 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_EF_hand_dom,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3,prints_SH3_domain - no_errors SPTAN1 HGNC ENSG00000197694 42 0 0 31 4 11.4286 C9orf50 0 genome.wustl.edu 37 9 132375434 132375434 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 132375434 132375434 C T SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known silent c.1140 p.P380 0.001 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 55 0 0 54 17 23.9437 PRRC2B 0 genome.wustl.edu 37 9 134357813 134357813 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 134357813 134357813 G A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.5039 p.R1680Q 1.000 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 224 0 0 212 59 21.7712 DDX31 0 genome.wustl.edu 37 9 135493751 135493751 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 135493751 135493751 G A SNP DDX31 ENST00000372159 human ensembl 74_37 -1 known silent c.2106 p.H702 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX31 HGNC ENSG00000125485 134 0 0 81 6 6.89655 ABO 0 genome.wustl.edu 37 9 136131645 136131645 + RNA SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 136131645 136131645 G A SNP ABO ENST00000453660 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ABO HGNC ENSG00000175164 56 0 0 39 14 26.4151 CAMSAP1 0 genome.wustl.edu 37 9 138710908 138710908 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 138710908 138710908 C T SNP CAMSAP1 ENST00000409386 human ensembl 74_37 -1 known missense c.3940 p.V1314M 0.001 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrel-like,superfamily_CH-domain - no_errors CAMSAP1 HGNC ENSG00000130559 20 0 0 19 5 20.8333 LHX3 0 genome.wustl.edu 37 9 139089228 139089228 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 139089228 139089228 G A SNP LHX3 ENST00000371746 human ensembl 74_37 -1 known silent c.1152 p.P384 0.430 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX3 HGNC ENSG00000107187 25 0 0 23 4 14.8148 CARD9 0 genome.wustl.edu 37 9 139265581 139265581 + Silent SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 139265581 139265581 T C SNP CARD9 ENST00000371732 human ensembl 74_37 -1 known silent c.339 p.S113 0.433 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD9 HGNC ENSG00000187796 32 0 0 28 7 20 NOTCH1 0 genome.wustl.edu 37 9 139401051 139401051 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 139401051 139401051 C T SNP NOTCH1 ENST00000277541 human ensembl 74_37 -1 known silent c.3942 p.K1314 0.758 pfam_EGF_extracell,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_Notch,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom - no_errors NOTCH1 HGNC ENSG00000148400 22 0 0 27 6 18.1818 MAMDC4 0 genome.wustl.edu 37 9 139751877 139751877 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 139751877 139751877 C T SNP MAMDC4 ENST00000445819 human ensembl 74_37 +1 known missense c.2402 p.A801V 0.033 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_MAM_dom,pfam_LDrepeatLR_classA_rpt,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_MAM_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_MAM_dom,prints_LDrepeatLR_classA_rpt - no_errors MAMDC4 HGNC ENSG00000177943 61 0 0 49 14 22.2222 TRAF2 0 genome.wustl.edu 37 9 139820133 139820133 + Splice_Site SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 139820133 139820133 A C SNP TRAF2 ENST00000359662 human ensembl 74_37 +1 known splice_site c.1444-2 e10-2 1.000 - - - no_errors TRAF2 HGNC ENSG00000127191 56 0 0 56 11 16.4179 NDOR1 0 genome.wustl.edu 37 9 140100312 140100312 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 140100312 140100312 C T SNP NDOR1 ENST00000371521 human ensembl 74_37 +1 known missense c.83 p.A28V 1.000 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_Riboflavin_synthase-like_b-brl,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NDOR1 HGNC ENSG00000188566 45 0 0 46 19 29.2308 FAM166A 0 genome.wustl.edu 37 9 140139126 140139126 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 140139126 140139126 T C SNP FAM166A ENST00000344774 human ensembl 74_37 -1 known missense c.715 p.M239V 0.161 NULL pfam_UPF0573/UPF0605 - no_errors FAM166A HGNC ENSG00000188163 61 0 0 48 8 14.2857 FREM1 0 genome.wustl.edu 37 9 14737531 14737531 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 14737531 14737531 T A SNP FREM1 ENST00000380881 human ensembl 74_37 -1 known missense c.6406 p.T2136S 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_Calx_beta,superfamily_C-type_lectin_fold,superfamily_Cadherin-like,smart_C-type_lectin,pfscan_C-type_lectin - no_errors FREM1 HGNC ENSG00000164946 24 0 0 21 5 19.2308 CBWD1 0 genome.wustl.edu 37 9 164038 164038 + Splice_Site SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 164038 164038 C G SNP CBWD1 ENST00000356521 human ensembl 74_37 -1 known splice_site c.431-1 e5-1 1.000 - - - no_errors CBWD1 HGNC ENSG00000172785 271 0 0 152 9 5.59006 HAUS6 0 genome.wustl.edu 37 9 19058474 19058474 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 19058474 19058474 C T SNP HAUS6 ENST00000380502 human ensembl 74_37 -1 known missense c.2291 p.S764N 1.000 NULL NULL - no_errors HAUS6 HGNC ENSG00000147874 26 0 0 22 3 12 MLLT3 0 genome.wustl.edu 37 9 20414346 20414346 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 20414346 20414346 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.498 p.S166 0.975 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 49 0 0 60 13 17.8082 SMARCA2 0 genome.wustl.edu 37 9 2060967 2060967 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 2060967 2060967 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.1673 p.K558R 1.000 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 52 0 0 48 4 7.69231 KCNV2 0 genome.wustl.edu 37 9 2718786 2718786 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 2718786 2718786 G A SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known silent c.1047 p.Q349 1.000 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 100 0 0 101 22 17.8862 SPINK4 0 genome.wustl.edu 37 9 33240248 33240248 + Silent SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 33240248 33240248 C A SNP SPINK4 ENST00000379721 human ensembl 74_37 +1 known silent c.42 p.A14 0.760 NULL pfam_Kazal_dom,smart_Kazal_dom - no_errors SPINK4 HGNC ENSG00000122711 18 0 0 8 3 27.2727 NOL6 0 genome.wustl.edu 37 9 33469213 33469213 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 33469213 33469213 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known missense c.854 p.A285V 0.995 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 107 0 0 102 18 15 UBAP1 0 genome.wustl.edu 37 9 34234267 34234267 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 34234267 34234267 A G SNP UBAP1 ENST00000545103 human ensembl 74_37 +1 known missense c.280 p.T94A 1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 122 0 0 62 20 24.3902 KIF24 0 genome.wustl.edu 37 9 34256112 34256112 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 34256112 34256112 C T SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.3493 p.E1165K 0.002 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 61 0 0 77 5 6.09756 ZCCHC7 0 genome.wustl.edu 37 9 37126908 37126908 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 37126908 37126908 C A SNP ZCCHC7 ENST00000336755 human ensembl 74_37 +1 known missense c.579 p.N193K 1.000 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC7 HGNC ENSG00000147905 154 0 0 92 37 28.6822 DOCK8 0 genome.wustl.edu 37 9 379854 379854 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 379854 379854 C T SNP DOCK8 ENST00000453981 human ensembl 74_37 +1 known missense c.2524 p.H842Y 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK8 HGNC ENSG00000107099 49 0 0 59 13 18.0556 CNTNAP3 0 genome.wustl.edu 37 9 39140608 39140608 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 39140608 39140608 T C SNP CNTNAP3 ENST00000297668 human ensembl 74_37 -1 known missense c.1784 p.H595R 1.000 superfamily_Fibrinogen_a/b/g_C_dom pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 92 0 0 84 7 7.69231 TMEM2 0 genome.wustl.edu 37 9 74347431 74347431 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 74347431 74347431 G T SNP TMEM2 ENST00000377044 human ensembl 74_37 -1 known missense c.1399 p.P467T 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors TMEM2 HGNC ENSG00000135048 46 0 0 30 3 9.09091 TRPM6 0 genome.wustl.edu 37 9 77448921 77448921 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 77448921 77448921 C T SNP TRPM6 ENST00000451710 human ensembl 74_37 -1 known missense c.662 p.G221E 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM6 HGNC ENSG00000119121 72 0 0 47 10 17.5439 VPS13A 0 genome.wustl.edu 37 9 79981681 79981681 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 79981681 79981681 A C SNP VPS13A ENST00000360280 human ensembl 74_37 +1 known missense c.8364 p.E2788D 0.924 NULL pfam_VPSAP_dom,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 77 0 0 26 7 21.2121 HNRNPK 0 genome.wustl.edu 37 9 86586858 86586858 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 86586858 86586858 C T SNP HNRNPK ENST00000376263 human ensembl 74_37 -1 known missense c.892 p.G298S 1.000 NULL pfam_KH_dom_type_1,pfam_ROK_N,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HNRNPK HGNC ENSG00000165119 142 0 0 117 17 12.6866 ZCCHC6 0 genome.wustl.edu 37 9 88938202 88938202 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 88938202 88938202 C A SNP ZCCHC6 ENST00000375963 human ensembl 74_37 -1 known missense c.2463 p.E821D 0.136 NULL pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC6 HGNC ENSG00000083223 94 0 0 78 11 12.3596 ENSG00000226668 0 genome.wustl.edu 37 9 95646204 95646204 + RNA SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 95646204 95646204 C T SNP ENSG00000226668 ENST00000411450 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP11-526D8.7 Clone_based_vega_gene ENSG00000226668 101 0 0 82 20 19.6078 WNK2 0 genome.wustl.edu 37 9 95992150 95992150 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 95992150 95992150 C T SNP WNK2 ENST00000297954 human ensembl 74_37 +1 known missense c.854 p.T285I 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK2 HGNC ENSG00000165238 30 0 0 25 9 26.4706 DMRT3 0 genome.wustl.edu 37 9 990868 990868 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 990868 990868 C A SNP DMRT3 ENST00000190165 human ensembl 74_37 +1 known missense c.1282 p.R428S 0.970 NULL pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRT3 HGNC ENSG00000064218 74 0 0 67 20 22.9885 DRP2 0 genome.wustl.edu 37 X 100505521 100505521 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 100505521 100505521 C T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known silent c.1650 p.A550 0.996 pfam_EF-hand_dom_typ2,pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 95 0 0 104 6 5.45455 NXT2 0 genome.wustl.edu 37 X 108780202 108780202 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 108780202 108780202 G A SNP NXT2 ENST00000218004 human ensembl 74_37 +1 known silent c.132 p.P44 0.000 NULL pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk - no_errors NXT2 HGNC ENSG00000101888 37 0 0 30 12 28.5714 DOCK11 0 genome.wustl.edu 37 X 117788585 117788585 + Missense_Mutation SNP A A C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 117788585 117788585 A C SNP DOCK11 ENST00000276202 human ensembl 74_37 +1 known missense c.4716 p.E1572D 1.000 NULL pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK11 HGNC ENSG00000147251 102 1 0.970874 77 21 21.4286 PGRMC1 0 genome.wustl.edu 37 X 118370568 118370568 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 118370568 118370568 T C SNP PGRMC1 ENST00000217971 human ensembl 74_37 +1 known missense c.242 p.F81S 1.000 pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd - no_errors PGRMC1 HGNC ENSG00000101856 26 0 0 32 7 17.9487 SOWAHD 0 genome.wustl.edu 37 X 118893082 118893082 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 118893082 118893082 T A SNP SOWAHD ENST00000343905 human ensembl 74_37 +1 known missense c.452 p.V151D 0.791 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHD HGNC ENSG00000187808 24 0 0 22 5 18.5185 ENOX2 0 genome.wustl.edu 37 X 129801658 129801658 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 129801658 129801658 C A SNP ENOX2 ENST00000338144 human ensembl 74_37 -1 known missense c.840 p.E280D 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors ENOX2 HGNC ENSG00000165675 151 0 0 163 25 13.2979 USP26 0 genome.wustl.edu 37 X 132160701 132160701 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 132160701 132160701 G A SNP USP26 ENST00000370832 human ensembl 74_37 -1 known silent c.1548 p.I516 0.798 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 333 0 0 219 69 23.9583 ZNF449 0 genome.wustl.edu 37 X 134494827 134494827 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 134494827 134494827 A G SNP ZNF449 ENST00000339249 human ensembl 74_37 +1 known silent c.1383 p.R461 1.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF449 HGNC ENSG00000173275 194 0 0 159 27 14.5161 DDX26B 0 genome.wustl.edu 37 X 134715625 134715625 + RNA SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 134715625 134715625 T G SNP DDX26B ENST00000481908 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors DDX26B HGNC ENSG00000165359 35 0 0 28 9 24.3243 MAP7D3 0 genome.wustl.edu 37 X 135310894 135310894 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 135310894 135310894 C A SNP MAP7D3 ENST00000370663 human ensembl 74_37 -1 known missense c.1720 p.G574C 0.000 pfam_MAP7 pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 94 0 0 66 15 18.5185 MAGEC3 0 genome.wustl.edu 37 X 140985386 140985386 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 140985386 140985386 A G SNP MAGEC3 ENST00000536088 human ensembl 74_37 +1 known silent c.948 p.P316 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC3 HGNC ENSG00000165509 135 0 0 157 10 5.98802 MAGEC1 0 genome.wustl.edu 37 X 140995299 140995299 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 140995299 140995299 C A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.2109 p.D703E 0.040 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 159 0 0 111 41 26.9737 SPANXN2 0 genome.wustl.edu 37 X 142795423 142795423 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 142795423 142795423 C A SNP SPANXN2 ENST00000370498 human ensembl 74_37 -1 known missense c.255 p.E85D 0.006 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXN2 HGNC ENSG00000203924 576 0 0 423 145 25.5282 SLITRK2 0 genome.wustl.edu 37 X 144904104 144904104 + Missense_Mutation SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 144904104 144904104 T G SNP SLITRK2 ENST00000370490 human ensembl 74_37 +1 known missense c.161 p.V54G 1.000 smart_LRR-contain_N pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 85 0 0 67 11 14.1026 AFF2 0 genome.wustl.edu 37 X 148038101 148038101 + Silent SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 148038101 148038101 A G SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known silent c.2526 p.T842 0.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 99 0 0 109 9 7.62712 SLC25A6 0 genome.wustl.edu 37 X 1505589 1505589 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 1505589 1505589 T C SNP SLC25A6 ENST00000381401 human ensembl 74_37 -1 known missense c.803 p.K268R 0.965 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier,prints_Aden_trnslctor,prints_Mit_uncoupling - no_errors SLC25A6 HGNC ENSG00000169100 235 0 0 334 18 5.11364 MAGEA10 0 genome.wustl.edu 37 X 151303514 151303514 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 151303514 151303514 T A SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known missense c.579 p.E193D 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 110 0 0 95 26 21.4876 PNMA5 0 genome.wustl.edu 37 X 152159455 152159455 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 152159455 152159455 C T SNP PNMA5 ENST00000361887 human ensembl 74_37 -1 known missense c.688 p.A230T 0.127 NULL NULL - no_errors PNMA5 HGNC ENSG00000198883 111 0 0 132 16 10.8108 TREX2 0 genome.wustl.edu 37 X 152721108 152721108 + Splice_Site SNP T T G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 152721108 152721108 T G SNP TREX2 ENST00000370232 human ensembl 74_37 -1 known splice_site c.1-2 e1-2 0.966 - - - no_errors TREX2 HGNC ENSG00000183479 102 1 0.970874 96 29 23.2 FAM58A 0 genome.wustl.edu 37 X 152853714 152853714 + RNA SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 152853714 152853714 G A SNP FAM58A ENST00000276345 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors FAM58A HGNC ENSG00000147382 36 0 0 34 10 22.7273 ABCD1 0 genome.wustl.edu 37 X 152991361 152991361 + Missense_Mutation SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 152991361 152991361 A G SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.640 p.N214D 1.000 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 82 0 0 91 21 18.75 PLXNA3 0 genome.wustl.edu 37 X 153696164 153696164 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 153696164 153696164 C T SNP PLXNA3 ENST00000369682 human ensembl 74_37 +1 known missense c.3640 p.R1214W 1.000 smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA3 HGNC ENSG00000130827 60 0 0 46 4 8 CDKL5 0 genome.wustl.edu 37 X 18622574 18622574 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 18622574 18622574 G A SNP CDKL5 ENST00000379989 human ensembl 74_37 +1 known silent c.1530 p.E510 0.039 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDKL5 HGNC ENSG00000008086 206 0 0 230 14 5.7377 GPR64 0 genome.wustl.edu 37 X 19031992 19031992 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 19031992 19031992 G A SNP GPR64 ENST00000379869 human ensembl 74_37 -1 known missense c.911 p.P304L 0.003 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 161 0 0 157 24 13.2597 DCAF8L1 0 genome.wustl.edu 37 X 27998016 27998016 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 27998016 27998016 T C SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.1436 p.D479G 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 41 0 0 36 8 18.1818 DMD 0 genome.wustl.edu 37 X 32360319 32360319 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 32360319 32360319 C T SNP DMD ENST00000357033 human ensembl 74_37 -1 known silent c.5820 p.G1940 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 67 0 0 65 16 19.7531 DMD 0 genome.wustl.edu 37 X 32466739 32466739 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 32466739 32466739 G A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.3620 p.A1207V 0.984 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 75 0 0 47 4 7.84314 DYNLT3 0 genome.wustl.edu 37 X 37701055 37701055 + Missense_Mutation SNP C C G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 37701055 37701055 C G SNP DYNLT3 ENST00000378581 human ensembl 74_37 -1 known missense c.176 p.G59A 1.000 pfam_Tctex pfam_Tctex - no_errors DYNLT3 HGNC ENSG00000165169 57 0 0 24 11 31.4286 BCOR 0 genome.wustl.edu 37 X 39922031 39922031 + Missense_Mutation SNP C C A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 39922031 39922031 C A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known missense c.4141 p.G1381W 0.992 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 46 0 0 38 3 7.31707 USP11 0 genome.wustl.edu 37 X 47101540 47101540 + Silent SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 47101540 47101540 C T SNP USP11 ENST00000218348 human ensembl 74_37 +1 known silent c.1368 p.D456 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Pept_C19_DUSP,smart_Pept_C19_DUSP,pfscan_Peptidase_C19/C67 - no_errors USP11 HGNC ENSG00000102226 37 0 0 28 9 24.3243 KCND1 0 genome.wustl.edu 37 X 48826046 48826046 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 48826046 48826046 G A SNP KCND1 ENST00000218176 human ensembl 74_37 -1 known silent c.633 p.R211 0.000 NULL pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 - no_errors KCND1 HGNC ENSG00000102057 23 0 0 23 11 32.3529 GRIPAP1 0 genome.wustl.edu 37 X 48839705 48839705 + Nonsense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 48839705 48839705 G A SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known nonsense c.1420 p.R474* 0.998 superfamily_Prefoldin superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 79 0 0 84 44 34.375 TFE3 0 genome.wustl.edu 37 X 48891239 48891239 + Splice_Site SNP A A G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 48891239 48891239 A G SNP TFE3 ENST00000315869 human ensembl 74_37 -1 known splice_site c.1060+2 e7+2 1.000 - - - no_errors TFE3 HGNC ENSG00000068323 57 0 0 47 16 25.3968 PRAF2 0 genome.wustl.edu 37 X 48931588 48931588 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 48931588 48931588 G A SNP PRAF2 ENST00000376390 human ensembl 74_37 -1 known missense c.59 p.A20V 0.898 pfam_Prenylated_rab_accept_PRA1 pfam_Prenylated_rab_accept_PRA1 - no_errors PRAF2 HGNC ENSG00000243279 27 0 0 30 5 14.2857 RIBC1 0 genome.wustl.edu 37 X 53455530 53455530 + Nonsense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 53455530 53455530 C T SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known nonsense c.499 p.Q167* 0.468 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 26 0 0 33 6 15.3846 PHF8 0 genome.wustl.edu 37 X 54069132 54069132 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 54069132 54069132 G A SNP PHF8 ENST00000357988 human ensembl 74_37 -1 known silent c.138 p.C46 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger - no_errors PHF8 HGNC ENSG00000172943 33 0 0 27 9 25 WNK3 0 genome.wustl.edu 37 X 54275628 54275628 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 54275628 54275628 C T SNP WNK3 ENST00000354646 human ensembl 74_37 -1 known missense c.3153 p.M1051I 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK3 HGNC ENSG00000196632 62 0 0 52 6 10.3448 MAGED2 0 genome.wustl.edu 37 X 54837342 54837342 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 54837342 54837342 T C SNP MAGED2 ENST00000218439 human ensembl 74_37 +1 known missense c.626 p.L209P 1.000 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED2 HGNC ENSG00000102316 41 0 0 30 14 31.8182 MAGEH1 0 genome.wustl.edu 37 X 55479097 55479097 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 55479097 55479097 C T SNP MAGEH1 ENST00000342972 human ensembl 74_37 +1 known missense c.290 p.A97V 0.010 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEH1 HGNC ENSG00000187601 78 0 0 70 15 17.6471 USP51 0 genome.wustl.edu 37 X 55514661 55514661 + Missense_Mutation SNP C C T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 55514661 55514661 C T SNP USP51 ENST00000500968 human ensembl 74_37 -1 known missense c.712 p.V238I 0.993 pfam_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP51 HGNC ENSG00000247746 86 0 0 58 8 12.1212 RRAGB 0 genome.wustl.edu 37 X 55748712 55748712 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 55748712 55748712 G A SNP RRAGB ENST00000262850 human ensembl 74_37 +1 known missense c.220 p.A74T 1.000 pfam_Gtr1_RagA,superfamily_P-loop_NTPase pfam_Gtr1_RagA,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase - no_errors RRAGB HGNC ENSG00000083750 115 0 0 83 6 6.74157 AMER1 0 genome.wustl.edu 37 X 63411068 63411068 + Missense_Mutation SNP G G T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 63411068 63411068 G T SNP AMER1 ENST00000330258 human ensembl 74_37 -1 known missense c.2099 p.P700H 1.000 NULL pfam_Uncharacterised_FAM123 - no_errors AMER1 HGNC ENSG00000184675 74 0 0 63 14 18.1818 KIF4A 0 genome.wustl.edu 37 X 69626771 69626771 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 69626771 69626771 T C SNP KIF4A ENST00000374403 human ensembl 74_37 +1 known missense c.3101 p.F1034S 0.998 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 97 0 0 51 16 23.8806 DLG3 0 genome.wustl.edu 37 X 69669640 69669640 + Missense_Mutation SNP T T A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 69669640 69669640 T A SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.688 p.L230M 0.998 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 45 0 0 38 7 15.5556 MED12 0 genome.wustl.edu 37 X 70349689 70349689 + Missense_Mutation SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 70349689 70349689 G A SNP MED12 ENST00000333646 human ensembl 74_37 +1 known missense c.3851 p.R1284H 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 32 0 0 31 9 22.5 GPR143 0 genome.wustl.edu 37 X 9693832 9693832 + Missense_Mutation SNP T T C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 9693832 9693832 T C SNP GPR143 ENST00000380929 human ensembl 74_37 -1 known missense c.1229 p.N410S 0.000 pfam_Ocular_alb1 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 65 0 0 42 9 17.6471 PCDH19 0 genome.wustl.edu 37 X 99663536 99663536 + Silent SNP G G A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 99663536 99663536 G A SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.60 p.A20 0.378 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 16 0 0 16 7 30.4348 HIAT1 0 genome.wustl.edu 37 1 100534121 100534122 + Frame_Shift_Ins INS - - T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 100534121 100534122 - T INS HIAT1 ENST00000370152 human ensembl 74_37 +1 known frame_shift_ins c.798_799 p.L268fs 1.000:1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors HIAT1 HGNC ENSG00000156875 107 0 0 60 14 18.9189 SLC16A4 0 genome.wustl.edu 37 1 110906426 110906427 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 110906426 110906427 - A INS SLC16A4 ENST00000369779 human ensembl 74_37 -1 known frame_shift_ins c.1426_1425 p.V475fs 0.998:0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 123 1 0.806452 73 5 6.41026 RSBN1 0 genome.wustl.edu 37 1 114354926 114354926 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 114354926 114354926 C - DEL RSBN1 ENST00000261441 human ensembl 74_37 -1 known frame_shift_del c.109 p.A37fs 1.000 NULL NULL - no_errors RSBN1 HGNC ENSG00000081019 104 0 0 115 21 15.4412 VPS13D 0 genome.wustl.edu 37 1 12335954 12335954 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 12335954 12335954 C - DEL VPS13D ENST00000358136 human ensembl 74_37 +1 known frame_shift_del c.2309 p.L772fs 1.000 NULL pfam_VPSAP_dom,pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors VPS13D HGNC ENSG00000048707 122 0 0 122 22 15.2778 LOC101927345 0 genome.wustl.edu 37 1 143378148 143378148 + RNA DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 143378148 143378148 A - DEL LOC101927345 ENST00000428624 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 131 0 0 129 12 8.51064 ADAMTSL4 0 genome.wustl.edu 37 1 150530506 150530506 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 150530506 150530506 G - DEL ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known frame_shift_del c.2332 p.G780fs 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 152 0 0 180 18 9.09091 TCHH 0 genome.wustl.edu 37 1 152086556 152086556 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 152086556 152086556 T - DEL TCHH ENST00000368804 human ensembl 74_37 -1 known frame_shift_del c.1 p.M1fs 1.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 64 0 0 32 6 15.7895 INTS3 0 genome.wustl.edu 37 1 153730152 153730153 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 153730152 153730153 - G INS INTS3 ENST00000318967 human ensembl 74_37 +1 known frame_shift_ins c.1062_1063 p.V355fs 1.000:1.000 pfam_Int_cplx_su3 pfam_Int_cplx_su3 - no_errors INTS3 HGNC ENSG00000143624 108 0 0 95 22 18.8034 PYGO2 0 genome.wustl.edu 37 1 154932071 154932071 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 154932071 154932071 G - DEL PYGO2 ENST00000368457 human ensembl 74_37 -1 known frame_shift_del c.405 p.F136fs 0.991 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PYGO2 HGNC ENSG00000163348 80 0 0 57 17 22.973 NES 0 genome.wustl.edu 37 1 156642803 156642804 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 156642803 156642804 - G INS NES ENST00000368223 human ensembl 74_37 -1 known frame_shift_ins c.1177_1176 p.T392fs 0.034:0.087 NULL pfam_IF - no_errors NES HGNC ENSG00000132688 211 0 0 225 49 17.8832 SEC16B 0 genome.wustl.edu 37 1 177927333 177927333 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 177927333 177927333 G - DEL SEC16B ENST00000308284 human ensembl 74_37 -1 known frame_shift_del c.1299 p.S434fs 0.033 NULL NULL - no_errors SEC16B HGNC ENSG00000120341 49 0 0 38 8 17.3913 ABL2 0 genome.wustl.edu 37 1 179077893 179077894 + Frame_Shift_Ins INS - - T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 179077893 179077894 - T INS ABL2 ENST00000502732 human ensembl 74_37 -1 known frame_shift_ins c.2509_2508 p.S836fs 1.000:1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 138 0 0 108 13 10.7438 TDRD5 0 genome.wustl.edu 37 1 179620102 179620102 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 179620102 179620102 T - DEL TDRD5 ENST00000444136 human ensembl 74_37 +1 known frame_shift_del c.1901 p.L636fs 1.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD5 HGNC ENSG00000162782 153 0 0 94 14 12.963 EDEM3 0 genome.wustl.edu 37 1 184686655 184686676 + Frame_Shift_Del DEL ATGGGGTATATTTTCTTACTTT ATGGGGTATATTTTCTTACTTT - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 ATGGGGTATATTTTCTTACTTT ATGGGGTATATTTTCTTACTTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 184686655 184686676 ATGGGGTATATTTTCTTACTTT - DEL EDEM3 ENST00000318130 human ensembl 74_37 -1 known frame_shift_del c.1264_1243 p.K415fs 0.000:0.000:0.000:0.000:0.003:0.004:0.005:0.009:0.002:0.000:0.000:0.000:0.023:0.984:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 112 0 0 64 10 13.5135 CFHR3 0 genome.wustl.edu 37 1 196762526 196762526 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 196762526 196762526 A - DEL CFHR3 ENST00000367425 human ensembl 74_37 +1 known frame_shift_del c.876 p.T294fs 0.000 superfamily_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR3 HGNC ENSG00000116785 66 0 0 34 8 19.0476 PLEKHA6 0 genome.wustl.edu 37 1 204228411 204228411 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 204228411 204228411 C - DEL PLEKHA6 ENST00000272203 human ensembl 74_37 -1 known frame_shift_del c.982 p.V328fs 0.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA6 HGNC ENSG00000143850 63 0 0 53 11 17.1875 OR14C36 0 genome.wustl.edu 37 1 248512384 248512384 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 248512384 248512384 T - DEL OR14C36 ENST00000317861 human ensembl 74_37 +1 known frame_shift_del c.308 p.F105fs 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR14C36 HGNC ENSG00000177174 64 0 0 63 12 16 MARCKSL1 0 genome.wustl.edu 37 1 32800539 32800540 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 32800539 32800540 - G INS MARCKSL1 ENST00000329421 human ensembl 74_37 -1 known frame_shift_ins c.247_246 p.K82fs 1.000:1.000 pfam_MARCKS pfam_MARCKS,prints_MARCKS - no_errors MARCKSL1 HGNC ENSG00000175130 87 0 0 107 32 23.0216 KIAA1522 0 genome.wustl.edu 37 1 33233495 33233495 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 33233495 33233495 C - DEL KIAA1522 ENST00000401073 human ensembl 74_37 +1 known frame_shift_del c.343 p.H117fs 0.980 NULL NULL - no_errors KIAA1522 HGNC ENSG00000162522 103 0 0 116 17 12.782 DLGAP3 0 genome.wustl.edu 37 1 35365852 35365852 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 35365852 35365852 C - DEL DLGAP3 ENST00000235180 human ensembl 74_37 -1 known frame_shift_del c.1130 p.G377fs 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 111 0 0 142 13 8.3871 ZMYM4 0 genome.wustl.edu 37 1 35846960 35846960 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 35846960 35846960 A - DEL ZMYM4 ENST00000314607 human ensembl 74_37 +1 known frame_shift_del c.1282 p.K430fs 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 81 0 0 55 10 15.3846 CCDC23 0 genome.wustl.edu 37 1 43282114 43282115 + Frame_Shift_Del DEL TC TC - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 43282114 43282115 TC - DEL CCDC23 ENST00000372521 human ensembl 74_37 -1 known frame_shift_del c.102_101 p.R34fs 1.000:1.000 NULL NULL - no_errors CCDC23 HGNC ENSG00000177868 221 0 0 203 18 8.1448 MED8 0 genome.wustl.edu 37 1 43850143 43850143 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 43850143 43850143 T - DEL MED8 ENST00000290663 human ensembl 74_37 -1 known frame_shift_del c.884 p.N295fs 0.000 NULL pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 25 0 0 11 5 31.25 PTCH2 0 genome.wustl.edu 37 1 45288194 45288194 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 45288194 45288194 G - DEL PTCH2 ENST00000372192 human ensembl 74_37 -1 known frame_shift_del c.3505 p.L1169fs 0.616 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 88 0 0 76 21 21.6495 RPL22 0 genome.wustl.edu 37 1 6257785 6257785 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 6257785 6257785 T - DEL RPL22 ENST00000234875 human ensembl 74_37 -1 known frame_shift_del c.44 p.K15fs 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 59 0 0 50 6 10.7143 GBP7 0 genome.wustl.edu 37 1 89613321 89613322 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 1 89613321 89613322 - C INS GBP7 ENST00000294671 human ensembl 74_37 -1 known frame_shift_ins c.1294_1293 p.H431fs 0.980:0.994 pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C pfam_Guanylate-bd_N,pfam_Guanylate-bd_C,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP7 HGNC ENSG00000213512 214 0 0 187 31 14.2202 SORCS1 0 genome.wustl.edu 37 10 108431121 108431122 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 108431121 108431122 - C INS SORCS1 ENST00000344440 human ensembl 74_37 -1 known frame_shift_ins c.2063_2062 p.E688fs 1.000:1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS1 HGNC ENSG00000108018 199 0 0 128 19 12.9252 ACSL5 0 genome.wustl.edu 37 10 114169370 114169371 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 114169370 114169371 - C INS ACSL5 ENST00000356116 human ensembl 74_37 +1 known frame_shift_ins c.806_807 p.F271fs 1.000:0.978 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL5 HGNC ENSG00000197142 213 0 0 163 26 13.7566 PDZD8 0 genome.wustl.edu 37 10 119042897 119042898 + Frame_Shift_Ins INS - - T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 119042897 119042898 - T INS PDZD8 ENST00000334464 human ensembl 74_37 -1 known frame_shift_ins c.3347_3346 p.I1116fs 0.215:0.572 NULL pfam_PDZ,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_PDZ,smart_PDZ,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_PDZ,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors PDZD8 HGNC ENSG00000165650 113 0 0 71 11 13.4146 INPP5F 0 genome.wustl.edu 37 10 121556339 121556339 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 121556339 121556339 C - DEL INPP5F ENST00000361976 human ensembl 74_37 +1 known frame_shift_del c.782 p.P263fs 1.000 pfam_Syja_N,pfscan_Syja_N pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 90 0 0 63 16 20.2532 WDR11 0 genome.wustl.edu 37 10 122622314 122622315 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 122622314 122622315 - A INS WDR11 ENST00000263461 human ensembl 74_37 +1 known frame_shift_ins c.594_595 p.V200fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR11 HGNC ENSG00000120008 286 0 0 253 52 17.0492 CUBN 0 genome.wustl.edu 37 10 17113554 17113554 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 17113554 17113554 A - DEL CUBN ENST00000377833 human ensembl 74_37 -1 known frame_shift_del c.2496 p.P833fs 0.996 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 109 1 0.909091 81 15 15.625 KIAA1217 0 genome.wustl.edu 37 10 24669902 24669902 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 24669902 24669902 G - DEL KIAA1217 ENST00000376454 human ensembl 74_37 +1 known frame_shift_del c.459 p.D155fs 1.000 NULL pfam_AIP3_C - no_errors KIAA1217 HGNC ENSG00000120549 80 0 0 80 5 5.88235 PFKP 0 genome.wustl.edu 37 10 3174635 3174636 + Splice_Site INS - - GA TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 3174635 3174636 - GA INS PFKP ENST00000381125 human ensembl 74_37 +1 known splice_site_ins c.1910+2_1910+1 e18+2 0.998:0.331 - - - no_errors PFKP HGNC ENSG00000067057 117 0 0 104 14 11.8644 ASAH2 0 genome.wustl.edu 37 10 52003089 52003089 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 52003089 52003089 T - DEL ASAH2 ENST00000395526 human ensembl 74_37 -1 known frame_shift_del c.383 p.Q128fs 1.000 pfam_Ceramidase_alk pfam_Ceramidase_alk - no_errors ASAH2 HGNC ENSG00000188611 151 0 0 113 25 18.1159 CHST3 0 genome.wustl.edu 37 10 73767317 73767317 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 73767317 73767317 G - DEL CHST3 ENST00000373115 human ensembl 74_37 +1 known frame_shift_del c.528 p.G178fs 0.047 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST3 HGNC ENSG00000122863 26 0 0 39 4 9.30233 LARP4B 0 genome.wustl.edu 37 10 890939 890939 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 890939 890939 T - DEL LARP4B ENST00000316157 human ensembl 74_37 -1 known frame_shift_del c.487 p.T163fs 1.000 pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 118 0 0 70 19 21.3483 BTAF1 0 genome.wustl.edu 37 10 93767970 93767970 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 93767970 93767970 A - DEL BTAF1 ENST00000265990 human ensembl 74_37 +1 known frame_shift_del c.3751 p.K1252fs 1.000 superfamily_ARM-type_fold,superfamily_P-loop_NTPase pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 160 0 0 79 29 26.8519 TM9SF3 0 genome.wustl.edu 37 10 98336475 98336475 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 10 98336475 98336475 T - DEL TM9SF3 ENST00000371142 human ensembl 74_37 -1 known frame_shift_del c.214 p.S72fs 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 172 0 0 126 15 10.6383 HEPACAM 0 genome.wustl.edu 37 11 124794951 124794951 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 124794951 124794951 C - DEL HEPACAM ENST00000298251 human ensembl 74_37 -1 known frame_shift_del c.100 p.V34fs 1.000 NULL pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors HEPACAM HGNC ENSG00000165478 41 0 0 43 10 18.8679 HPS5 0 genome.wustl.edu 37 11 18303690 18303690 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 18303690 18303690 G - DEL HPS5 ENST00000349215 human ensembl 74_37 -1 known frame_shift_del c.3136 p.Q1046fs 0.339 pirsf_BLOC-2_complex_Hps5_subunit superfamily_WD40_repeat_dom,pirsf_BLOC-2_complex_Hps5_subunit - no_errors HPS5 HGNC ENSG00000110756 131 0 0 124 7 5.34351 NAV2 0 genome.wustl.edu 37 11 20127169 20127169 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 20127169 20127169 G - DEL NAV2 ENST00000396087 human ensembl 74_37 +1 known frame_shift_del c.6914 p.V2306fs 1.000 superfamily_P-loop_NTPase pfam_CH-domain,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV2 HGNC ENSG00000166833 80 0 0 85 10 10.5263 MUC15 0 genome.wustl.edu 37 11 26587427 26587427 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 26587427 26587427 T - DEL MUC15 ENST00000436318 human ensembl 74_37 -1 known frame_shift_del c.60 p.K20fs 0.000 NULL NULL - no_errors MUC15 HGNC ENSG00000169550 66 0 0 42 11 20.7547 NAP1L4 0 genome.wustl.edu 37 11 2991166 2991167 + Splice_Site INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 2991166 2991167 - A INS NAP1L4 ENST00000380542 human ensembl 74_37 -1 known splice_site_ins c.403-3_403-2 e6-2 1.000:0.009 - - - no_errors NAP1L4 HGNC ENSG00000205531 74 0 0 46 8 14.8148 PAX6 0 genome.wustl.edu 37 11 31812317 31812317 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 31812317 31812317 G - DEL PAX6 ENST00000379107 human ensembl 74_37 -1 known frame_shift_del c.1166 p.P389fs 1.000 NULL pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,prints_Paired_dom,pfscan_Homeobox_dom,pfscan_Paired_dom - no_errors PAX6 HGNC ENSG00000007372 84 0 0 66 6 8.33333 ALX4 0 genome.wustl.edu 37 11 44286624 44286624 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 44286624 44286624 G - DEL ALX4 ENST00000329255 human ensembl 74_37 -1 known frame_shift_del c.1016 p.P339fs 0.977 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors ALX4 HGNC ENSG00000052850 52 0 0 52 11 17.4603 TRIM51 0 genome.wustl.edu 37 11 55653610 55653610 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 55653610 55653610 A - DEL TRIM51 ENST00000449290 human ensembl 74_37 +1 known frame_shift_del c.423 p.M144fs 0.001 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM51 HGNC ENSG00000124900 60 0 0 30 6 16.6667 SLC43A1 0 genome.wustl.edu 37 11 57281506 57281508 + In_Frame_Del DEL AGA AGA - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 57281506 57281508 AGA - DEL SLC43A1 ENST00000278426 human ensembl 74_37 -1 known in_frame_del c.79_77 p.F26in_frame_del 1.000:1.000:1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 22 0 0 7 3 30 DTX4 0 genome.wustl.edu 37 11 58962826 58962827 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 58962826 58962827 - C INS DTX4 ENST00000227451 human ensembl 74_37 +1 known frame_shift_ins c.1520_1521 p.G510fs 1.000:1.000 NULL pfam_WWE-dom,pfam_Znf_C3HC4_RING-type,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING - no_errors DTX4 HGNC ENSG00000110042 54 0 0 51 7 12.069 MYRF 0 genome.wustl.edu 37 11 61533569 61533569 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 61533569 61533569 C - DEL MYRF ENST00000278836 human ensembl 74_37 +1 known frame_shift_del c.274 p.P93fs 0.999 NULL pfam_NDT80_DNA-bd_dom,superfamily_p53-like_TF_DNA-bd - no_errors MYRF HGNC ENSG00000124920 40 0 0 36 8 18.1818 PLCB3 0 genome.wustl.edu 37 11 64032517 64032517 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 64032517 64032517 C - DEL PLCB3 ENST00000279230 human ensembl 74_37 +1 known frame_shift_del c.2747 p.R918fs 0.006 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB3 HGNC ENSG00000149782 16 0 0 13 5 27.7778 KCNK4 0 genome.wustl.edu 37 11 64064615 64064615 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 64064615 64064615 C - DEL KCNK4 ENST00000394525 human ensembl 74_37 +1 known frame_shift_del c.338 p.T113fs 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK4 HGNC ENSG00000182450 79 0 0 89 20 18.3486 RPS6KA4 0 genome.wustl.edu 37 11 64138941 64138941 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 64138941 64138941 C - DEL RPS6KA4 ENST00000334205 human ensembl 74_37 +1 known frame_shift_del c.2308 p.S772fs 0.292 pirsf_Ribosomal_S6_kinase_II pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_dom - no_errors RPS6KA4 HGNC ENSG00000162302 9 0 0 12 3 20 MALAT1 0 genome.wustl.edu 37 11 65269498 65269498 + RNA DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 65269498 65269498 T - DEL MALAT1 ENST00000534336 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MALAT1 HGNC ENSG00000251562 42 0 0 28 16 36.3636 DCHS1 0 genome.wustl.edu 37 11 6662141 6662142 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 6662141 6662142 - G INS DCHS1 ENST00000299441 human ensembl 74_37 -1 known frame_shift_ins c.704_703 p.R235fs 0.999:0.606 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 189 0 0 160 24 13.0435 CEP57 0 genome.wustl.edu 37 11 95555113 95555113 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 11 95555113 95555113 A - DEL CEP57 ENST00000325542 human ensembl 74_37 +1 known frame_shift_del c.778 p.K262fs 1.000 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57 HGNC ENSG00000166037 73 0 0 51 14 21.5385 C12orf45 0 genome.wustl.edu 37 12 105388460 105388460 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 105388460 105388460 A - DEL C12orf45 ENST00000552951 human ensembl 74_37 +1 known frame_shift_del c.544 p.K184fs 0.950 NULL NULL - no_errors C12orf45 HGNC ENSG00000151131 58 0 0 47 11 18.9655 NUAK1 0 genome.wustl.edu 37 12 106466564 106466564 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 106466564 106466564 A - DEL NUAK1 ENST00000261402 human ensembl 74_37 -1 known frame_shift_del c.637 p.C213fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 87 0 0 59 7 10.6061 IFT81 0 genome.wustl.edu 37 12 110630501 110630501 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 110630501 110630501 A - DEL IFT81 ENST00000242591 human ensembl 74_37 +1 known frame_shift_del c.1547 p.K517fs 1.000 NULL NULL - no_errors IFT81 HGNC ENSG00000122970 174 0 0 83 5 5.68182 MLXIP 0 genome.wustl.edu 37 12 122619803 122619804 + Frame_Shift_Del DEL AT AT - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 122619803 122619804 AT - DEL MLXIP ENST00000319080 human ensembl 74_37 +1 known frame_shift_del c.1765_1766 p.M589fs 0.996:1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 39 0 0 61 6 8.95522 RAD51AP1 0 genome.wustl.edu 37 12 4653063 4653063 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 4653063 4653063 A - DEL RAD51AP1 ENST00000228843 human ensembl 74_37 +1 known frame_shift_del c.202 p.R70fs 0.997 NULL NULL - no_errors RAD51AP1 HGNC ENSG00000111247 58 0 0 44 10 18.5185 AKAP3 0 genome.wustl.edu 37 12 4736154 4736154 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 4736154 4736154 G - DEL AKAP3 ENST00000228850 human ensembl 74_37 -1 known frame_shift_del c.1914 p.R639fs 0.000 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 63 0 0 48 9 15.7895 TARBP2 0 genome.wustl.edu 37 12 53898184 53898184 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 53898184 53898184 C - DEL TARBP2 ENST00000266987 human ensembl 74_37 +1 known frame_shift_del c.426 p.M145fs 0.994 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors TARBP2 HGNC ENSG00000139546 67 0 0 75 15 16.6667 DGKA 0 genome.wustl.edu 37 12 56347514 56347514 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 56347514 56347514 C - DEL DGKA ENST00000331886 human ensembl 74_37 +1 known frame_shift_del c.2170 p.R726fs 0.749 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKA HGNC ENSG00000065357 113 0 0 89 23 20.5357 USP5 0 genome.wustl.edu 37 12 6973278 6973278 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 6973278 6973278 C - DEL USP5 ENST00000229268 human ensembl 74_37 +1 known frame_shift_del c.2163 p.P723fs 0.547 pfam_Peptidase_C19/C67,superfamily_UBA-like,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_UBA/Ts_N,pfam_Znf_UBP,superfamily_UBA-like,smart_Znf_UBP,smart_UBA/transl_elong_EF1B_N_euk,pirsf_Ubiquitinyl_hydrolase,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP5 HGNC ENSG00000111667 132 0 0 156 23 12.8492 C1RL 0 genome.wustl.edu 37 12 7249400 7249400 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 7249400 7249400 G - DEL C1RL ENST00000266542 human ensembl 74_37 -1 known frame_shift_del c.1051 p.L351fs 0.908 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 66 0 0 85 10 10.5263 CCDC41 0 genome.wustl.edu 37 12 94729387 94729387 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 94729387 94729387 T - DEL CCDC41 ENST00000339839 human ensembl 74_37 -1 known frame_shift_del c.1397 p.N466fs 0.407 NULL NULL - no_errors CCDC41 HGNC ENSG00000173588 31 0 0 22 9 29.0323 VEZT 0 genome.wustl.edu 37 12 95650969 95650969 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 12 95650969 95650969 T - DEL VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_del c.212 p.S74fs 0.065 NULL NULL - no_errors VEZT HGNC ENSG00000028203 44 0 0 32 11 25.5814 UPF3A 0 genome.wustl.edu 37 13 115057211 115057211 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 115057211 115057211 A - DEL UPF3A ENST00000375299 human ensembl 74_37 +1 known frame_shift_del c.790 p.E267fs 0.943 NULL pfam_Nonsense_mediated_decay_UPF3 - no_errors UPF3A HGNC ENSG00000169062 48 0 0 42 8 16 XPO4 0 genome.wustl.edu 37 13 21371027 21371027 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 21371027 21371027 A - DEL XPO4 ENST00000255305 human ensembl 74_37 -1 known frame_shift_del c.2492 p.L831fs 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors XPO4 HGNC ENSG00000132953 74 0 0 45 5 10 ELF1 0 genome.wustl.edu 37 13 41525494 41525494 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 41525494 41525494 G - DEL ELF1 ENST00000239882 human ensembl 74_37 -1 known frame_shift_del c.332 p.P111fs 1.000 pfam_TF_Elf_N pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF1 HGNC ENSG00000120690 161 0 0 123 12 8.88889 ABCC4 0 genome.wustl.edu 37 13 95696016 95696016 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 13 95696016 95696016 T - DEL ABCC4 ENST00000376887 human ensembl 74_37 -1 known frame_shift_del c.3655 p.I1219fs 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 104 0 0 75 8 9.63855 CDCA4 0 genome.wustl.edu 37 14 105477665 105477665 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 105477665 105477665 C - DEL CDCA4 ENST00000336219 human ensembl 74_37 -1 known frame_shift_del c.602 p.G201fs 0.005 NULL pfam_SERTA,pfscan_SERTA - no_errors CDCA4 HGNC ENSG00000170779 81 0 0 66 16 19.5122 BRF1 0 genome.wustl.edu 37 14 105693010 105693010 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 105693010 105693010 G - DEL BRF1 ENST00000546474 human ensembl 74_37 -1 known frame_shift_del c.876 p.S293fs 0.896 NULL pfam_TFIIB_cyclin,pfam_BRF1_TBP-bd,pfam_Znf_TFIIB,superfamily_Cyclin-like,smart_Cyclin-like,pfscan_Znf_TFIIB,prints_TFIIB - no_errors BRF1 HGNC ENSG00000185024 101 0 0 142 9 5.96026 IRF9 0 genome.wustl.edu 37 14 24633131 24633132 + In_Frame_Ins INS - - AGC TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 24633131 24633132 - AGC INS IRF9 ENST00000396864 human ensembl 74_37 +1 known in_frame_ins c.540_541 p.184in_frame_insS 0.016:0.064 NULL pfam_Interferon_reg_fact_DNA-bd_dom,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF9 HGNC ENSG00000213928 74 0 0 97 13 11.8182 BAZ1A 0 genome.wustl.edu 37 14 35331423 35331423 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 35331423 35331423 T - DEL BAZ1A ENST00000360310 human ensembl 74_37 -1 known frame_shift_del c.219 p.A74fs 1.000 pfam_WSTF_Acf1_Cbp146,pfscan_WSTF_Acf1_Cbp146 pfam_WSTF_Acf1_Cbp146,pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_WSTF_Acf1_Cbp146,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ1A HGNC ENSG00000198604 202 0 0 158 33 17.2775 MIA2 0 genome.wustl.edu 37 14 39716860 39716860 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 39716860 39716860 A - DEL MIA2 ENST00000556784 human ensembl 74_37 +1 putative frame_shift_del c.1079 p.D363fs 0.883 NULL pfam_SH3_2,superfamily_SH3_domain - no_errors MIA2 HGNC ENSG00000150526 55 0 0 50 8 13.7931 NRXN3 0 genome.wustl.edu 37 14 79270136 79270136 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 79270136 79270136 G - DEL NRXN3 ENST00000554738 human ensembl 74_37 +1 known frame_shift_del c.2212 p.R740fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 72 0 0 53 7 11.6667 PTPN21 0 genome.wustl.edu 37 14 88940113 88940113 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 88940113 88940113 T - DEL PTPN21 ENST00000328736 human ensembl 74_37 -1 known frame_shift_del c.2545 p.I849fs 0.995 pirsf_Tyr_Pase_non-rcpt_typ-14/21 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,superfamily_FERM_central,smart_Band_41_domain,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-14/21,pfscan_FERM_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam - no_errors PTPN21 HGNC ENSG00000070778 127 0 0 110 8 6.77966 SERPINA9 0 genome.wustl.edu 37 14 94929494 94929496 + In_Frame_Del DEL ATC ATC - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 14 94929494 94929496 ATC - DEL SERPINA9 ENST00000337425 human ensembl 74_37 -1 known in_frame_del c.1244_1242 p.M414in_frame_del 0.017:0.001:0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA9 HGNC ENSG00000170054 150 0 0 103 21 16.9355 B2M 0 genome.wustl.edu 37 15 45003781 45003782 + Frame_Shift_Del DEL CT CT - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 CT CT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 45003781 45003782 CT - DEL B2M ENST00000544417 human ensembl 74_37 +1 known frame_shift_del c.37_38 p.L15fs 0.000:0.000 NULL pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors B2M HGNC ENSG00000166710 100 0 0 92 20 17.8571 SECISBP2L 0 genome.wustl.edu 37 15 49309051 49309051 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 49309051 49309051 T - DEL SECISBP2L ENST00000559471 human ensembl 74_37 -1 known frame_shift_del c.1413 p.K471fs 0.983 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 104 1 0.952381 53 9 14.5161 UNC13C 0 genome.wustl.edu 37 15 54306720 54306720 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 54306720 54306720 T - DEL UNC13C ENST00000260323 human ensembl 74_37 +1 known frame_shift_del c.1620 p.F542fs 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 80 0 0 46 16 25.8065 TCF12 0 genome.wustl.edu 37 15 57489984 57489984 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 57489984 57489984 A - DEL TCF12 ENST00000438423 human ensembl 74_37 +1 known frame_shift_del c.540 p.V183fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 117 0 0 71 21 22.8261 USP3 0 genome.wustl.edu 37 15 63829242 63829242 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 63829242 63829242 A - DEL USP3 ENST00000380324 human ensembl 74_37 +1 known frame_shift_del c.171 p.K59fs 1.000 pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP3 HGNC ENSG00000140455 82 0 0 35 4 10.2564 KIAA1024 0 genome.wustl.edu 37 15 79750586 79750586 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 15 79750586 79750586 A - DEL KIAA1024 ENST00000305428 human ensembl 74_37 +1 known frame_shift_del c.2097 p.S702fs 0.527 NULL pfam_UPF0258 - no_errors KIAA1024 HGNC ENSG00000169330 146 0 0 152 14 8.43373 KIAA0430 0 genome.wustl.edu 37 16 15714308 15714308 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 15714308 15714308 T - DEL KIAA0430 ENST00000396368 human ensembl 74_37 -1 known frame_shift_del c.2720 p.K907fs 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 55 0 0 39 11 22 MYH11 0 genome.wustl.edu 37 16 15820795 15820797 + In_Frame_Del DEL CTT CTT - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 15820795 15820797 CTT - DEL MYH11 ENST00000396324 human ensembl 74_37 -1 known in_frame_del c.3789_3787 p.K1263in_frame_del 1.000:1.000:1.000 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH11 HGNC ENSG00000133392 264 0 0 288 66 18.6441 PALB2 0 genome.wustl.edu 37 16 23646981 23646981 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 23646981 23646981 T - DEL PALB2 ENST00000261584 human ensembl 74_37 -1 known frame_shift_del c.886 p.M296fs 0.000 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 144 0 0 104 28 21.2121 ATXN2L 0 genome.wustl.edu 37 16 28847350 28847350 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 28847350 28847350 G - DEL ATXN2L ENST00000395547 human ensembl 74_37 +1 known frame_shift_del c.2992 p.1002fs 1.000 NULL pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 93 0 0 135 17 11.1842 TAOK2 0 genome.wustl.edu 37 16 30002499 30002499 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 30002499 30002499 G - DEL TAOK2 ENST00000279394 human ensembl 74_37 +1 known frame_shift_del c.2760 p.G922fs 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Homeodomain-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TAOK2 HGNC ENSG00000149930 130 0 0 96 17 15.0442 PHKG2 0 genome.wustl.edu 37 16 30768017 30768017 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 30768017 30768017 C - DEL PHKG2 ENST00000563588 human ensembl 74_37 +1 known frame_shift_del c.908 p.R305fs 0.756 superfamily_Kinase-like_dom,prints_Phosph_kin_gamma pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Phosph_kin_gamma,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PHKG2 HGNC ENSG00000156873 131 1 0.757576 131 21 13.8158 ZNF646 0 genome.wustl.edu 37 16 31092603 31092604 + Frame_Shift_Del DEL GA GA - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 31092603 31092604 GA - DEL ZNF646 ENST00000300850 human ensembl 74_37 +1 known frame_shift_del c.4958_4959 p.S1655fs 0.004:0.028 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 47 0 0 60 12 16.6667 PRSS36 0 genome.wustl.edu 37 16 31154777 31154777 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 31154777 31154777 G - DEL PRSS36 ENST00000268281 human ensembl 74_37 -1 known frame_shift_del c.986 p.P329fs 0.000 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-2,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS36 HGNC ENSG00000178226 54 0 0 73 14 16.092 TOX3 0 genome.wustl.edu 37 16 52473795 52473797 + In_Frame_Del DEL AGA AGA - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 52473795 52473797 AGA - DEL TOX3 ENST00000219746 human ensembl 74_37 -1 known in_frame_del c.1073_1071 p.L358in_frame_del 1.000:1.000:0.915 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 167 0 0 151 15 9.03614 WDR90 0 genome.wustl.edu 37 16 709106 709106 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 709106 709106 C - DEL WDR90 ENST00000549091 human ensembl 74_37 +1 novel frame_shift_del c.3032 p.P1013fs 0.000 NULL pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR90 HGNC ENSG00000161996 79 0 0 89 14 13.5922 HYDIN 0 genome.wustl.edu 37 16 71218785 71218785 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 16 71218785 71218785 C - DEL HYDIN ENST00000448089 human ensembl 74_37 -1 known frame_shift_del c.244 p.E82fs 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 253 0 0 175 31 15.0485 ZNF624 0 genome.wustl.edu 37 17 16526706 16526706 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 16526706 16526706 T - DEL ZNF624 ENST00000311331 human ensembl 74_37 -1 known frame_shift_del c.1494 p.K498fs 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF624 HGNC ENSG00000197566 138 0 0 117 12 9.30233 MYO15A 0 genome.wustl.edu 37 17 18025032 18025032 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 18025032 18025032 C - DEL MYO15A ENST00000205890 human ensembl 74_37 +1 known frame_shift_del c.2918 p.T975fs 0.001 NULL pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom - no_errors MYO15A HGNC ENSG00000091536 42 0 0 24 6 20 UBBP4 0 genome.wustl.edu 37 17 21731034 21731034 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 21731034 21731034 C - DEL UBBP4 ENST00000578713 human ensembl 74_37 +1 putative frame_shift_del c.336 p.D115fs 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup,prints_Ubiquitin - no_errors UBBP4 HGNC ENSG00000263563 114 0 0 93 8 7.92079 LGALS9 0 genome.wustl.edu 37 17 25975972 25975972 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 25975972 25975972 G - DEL LGALS9 ENST00000395473 human ensembl 74_37 +1 known frame_shift_del c.1032 p.G346fs 0.002 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl_sf,smart_Galectin_CRD - no_errors LGALS9 HGNC ENSG00000168961 246 0 0 230 22 8.73016 ENSG00000266865 0 genome.wustl.edu 37 17 29349140 29349141 + RNA INS - - AT TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 29349140 29349141 - AT INS ENSG00000266865 ENST00000579692 human ensembl 74_37 +1 known rna NULL NULL 0.020:0.032 - - - no_errors RP11-848P1.9 Clone_based_vega_gene ENSG00000266865 8 0 0 4 2 33.3333 KRT28 0 genome.wustl.edu 37 17 38950122 38950122 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 38950122 38950122 T - DEL KRT28 ENST00000306658 human ensembl 74_37 -1 known frame_shift_del c.1155 p.E386fs 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 195 0 0 153 43 21.9388 KRT28 0 genome.wustl.edu 37 17 38955991 38955991 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 38955991 38955991 C - DEL KRT28 ENST00000306658 human ensembl 74_37 -1 known frame_shift_del c.155 p.G52fs 0.634 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT28 HGNC ENSG00000173908 116 0 0 106 14 11.6667 KRT33B 0 genome.wustl.edu 37 17 39525931 39525931 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 39525931 39525931 G - DEL KRT33B ENST00000251646 human ensembl 74_37 -1 known frame_shift_del c.72 p.S25fs 1.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT33B HGNC ENSG00000131738 66 0 0 50 11 18.0328 KCNH4 0 genome.wustl.edu 37 17 40328259 40328259 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 40328259 40328259 C - DEL KCNH4 ENST00000264661 human ensembl 74_37 -1 known frame_shift_del c.642 p.S215fs 0.999 NULL pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 188 0 0 143 43 23.1183 NAGLU 0 genome.wustl.edu 37 17 40690467 40690468 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 40690467 40690468 - C INS NAGLU ENST00000225927 human ensembl 74_37 +1 known frame_shift_ins c.642_643 p.S216fs 1.000:1.000 pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF pfam_NAGLU_tim-barrel,superfamily_Glycoside_hydrolase_SF - no_errors NAGLU HGNC ENSG00000108784 160 0 0 164 24 12.766 PTGES3L-AARSD1 0 genome.wustl.edu 37 17 41108535 41108535 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 41108535 41108535 G - DEL PTGES3L-AARSD1 ENST00000409399 human ensembl 74_37 -1 known frame_shift_del c.954 p.S319fs 0.012 superfamily_Thr/Ala-tRNA-synth_IIc_edit,pfscan_Ala-tRNA-synth_IIc_core pfam_tRNA_SAD,pfam_CS_dom,pfam_Ala-tRNA-synth_IIc_N,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_HSP20-like_chaperone,smart_tRNA_SAD,pfscan_CS_dom,pfscan_Ala-tRNA-synth_IIc_core - no_errors PTGES3L-AARSD1 HGNC ENSG00000108825 74 0 0 49 13 20.9677 GP1BA 0 genome.wustl.edu 37 17 4837373 4837373 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 4837373 4837373 A - DEL GP1BA ENST00000329125 human ensembl 74_37 +1 known frame_shift_del c.1474 p.T494fs 0.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors GP1BA HGNC ENSG00000185245 112 0 0 97 11 10.1852 INTS2 0 genome.wustl.edu 37 17 59945339 59945339 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 59945339 59945339 A - DEL INTS2 ENST00000444766 human ensembl 74_37 -1 known frame_shift_del c.3300 p.F1100fs 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 46 0 0 24 9 27.2727 POLG2 0 genome.wustl.edu 37 17 62481966 62481966 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 62481966 62481966 T - DEL POLG2 ENST00000539111 human ensembl 74_37 -1 known frame_shift_del c.989 p.N330fs 1.000 NULL pfam_Anticodon-bd,superfamily_Anticodon-bd - no_errors POLG2 HGNC ENSG00000256525 114 0 0 99 11 10 SOX9 0 genome.wustl.edu 37 17 70117594 70117594 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 70117594 70117594 C - DEL SOX9 ENST00000245479 human ensembl 74_37 +1 known frame_shift_del c.62 p.S23fs 1.000 pfam_Sox_N pfam_Sox_N,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX9 HGNC ENSG00000125398 51 0 0 42 13 23.6364 ACAP1 0 genome.wustl.edu 37 17 7252316 7252316 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7252316 7252316 C - DEL ACAP1 ENST00000158762 human ensembl 74_37 +1 known frame_shift_del c.1681 p.S563fs 0.476 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_ArfGAP,prints_ArfGAP - no_errors ACAP1 HGNC ENSG00000072818 99 0 0 126 8 5.97015 ITGB4 0 genome.wustl.edu 37 17 73746239 73746239 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 73746239 73746239 C - DEL ITGB4 ENST00000200181 human ensembl 74_37 +1 known frame_shift_del c.3364 p.P1123fs 0.000 pirsf_Integrin_bsu-4,superfamily_Fibronectin_type3 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 104 0 0 99 15 13.1579 CDK3 0 genome.wustl.edu 37 17 73997602 73997604 + In_Frame_Del DEL GAA GAA - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 GAA GAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 73997602 73997604 GAA - DEL CDK3 ENST00000425876 human ensembl 74_37 +1 known in_frame_del c.96_98 p.K34in_frame_del 0.994:1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK3 HGNC ENSG00000250506 110 0 0 84 19 18.4466 EFNB3 0 genome.wustl.edu 37 17 7612702 7612702 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 7612702 7612702 G - DEL EFNB3 ENST00000226091 human ensembl 74_37 +1 known frame_shift_del c.831 p.G279fs 0.981 NULL pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin - no_errors EFNB3 HGNC ENSG00000108947 31 0 0 31 7 18.4211 SLC38A10 0 genome.wustl.edu 37 17 79219742 79219742 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 17 79219742 79219742 C - DEL SLC38A10 ENST00000374759 human ensembl 74_37 -1 known frame_shift_del c.2974 p.D992fs 0.000 NULL pfam_AA_transpt_TM - no_errors SLC38A10 HGNC ENSG00000157637 86 0 0 81 9 10 TRAPPC8 0 genome.wustl.edu 37 18 29453418 29453418 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 29453418 29453418 A - DEL TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known frame_shift_del c.2037 p.F679fs 1.000 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 44 0 0 31 8 20.5128 WBP11P1 0 genome.wustl.edu 37 18 30093381 30093381 + RNA DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 30093381 30093381 C - DEL WBP11P1 ENST00000567636 human ensembl 74_37 +1 known rna NULL NULL 0.976 - - - no_errors WBP11P1 HGNC ENSG00000260389 70 0 0 72 15 17.2414 ENSG00000252258 0 genome.wustl.edu 37 18 3025533 3025533 + RNA DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 3025533 3025533 A - DEL ENSG00000252258 ENST00000516449 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors SNORA70 RFAM ENSG00000252258 28 0 0 29 8 21.6216 SERPINB12 0 genome.wustl.edu 37 18 61225690 61225690 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 18 61225690 61225690 A - DEL SERPINB12 ENST00000382768 human ensembl 74_37 +1 novel frame_shift_del c.274 p.T94fs 0.008 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 76 0 0 59 9 13.2353 ICAM4 0 genome.wustl.edu 37 19 10397718 10397719 + Frame_Shift_Ins INS - - T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 10397718 10397719 - T INS ICAM4 ENST00000340992 human ensembl 74_37 +1 known frame_shift_ins c.30_31 p.L12fs 0.002:0.004 NULL pfam_ICAM_N - no_errors ICAM4 HGNC ENSG00000105371 27 0 0 26 8 23.5294 ZNF43 0 genome.wustl.edu 37 19 21992087 21992087 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 21992087 21992087 T - DEL ZNF43 ENST00000354959 human ensembl 74_37 -1 known frame_shift_del c.752 p.N251fs 0.932 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF43 HGNC ENSG00000198521 77 0 0 50 9 15.2542 KMT2B 0 genome.wustl.edu 37 19 36218451 36218451 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 36218451 36218451 G - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known frame_shift_del c.4230 p.G1412fs 1.000 pirsf_MeTrfase_trithorax,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 82 0 0 92 17 15.5963 KIRREL2 0 genome.wustl.edu 37 19 36349618 36349618 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 36349618 36349618 C - DEL KIRREL2 ENST00000360202 human ensembl 74_37 +1 known frame_shift_del c.374 p.Q127fs 0.812 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL2 HGNC ENSG00000126259 126 0 0 136 14 9.33333 HNRNPL 0 genome.wustl.edu 37 19 39329628 39329628 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 39329628 39329628 C - DEL HNRNPL ENST00000221419 human ensembl 74_37 -1 known frame_shift_del c.1261 p.A421fs 1.000 smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors HNRNPL HGNC ENSG00000104824 137 0 0 129 8 5.83942 BCKDHA 0 genome.wustl.edu 37 19 41916544 41916544 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 41916544 41916544 C - DEL BCKDHA ENST00000595085 human ensembl 74_37 +1 known frame_shift_del c.213 p.R74fs 0.000 NULL pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 82 0 0 68 14 17.0732 BCKDHA 0 genome.wustl.edu 37 19 41929040 41929042 + In_Frame_Del DEL AGG AGG - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 41929040 41929042 AGG - DEL BCKDHA ENST00000595085 human ensembl 74_37 +1 known in_frame_del c.1235_1237 p.E413in_frame_del 1.000:1.000:1.000 pfam_DH_E1 pfam_DH_E1,pfam_Transketolase_N - no_errors BCKDHA HGNC ENSG00000248098 11 0 0 4 2 33.3333 MEGF8 0 genome.wustl.edu 37 19 42838298 42838298 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 42838298 42838298 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.491 p.G166fs 1.000 smart_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 54 0 0 39 9 18.75 BCL3 0 genome.wustl.edu 37 19 45262726 45262726 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 45262726 45262726 C - DEL BCL3 ENST00000164227 human ensembl 74_37 +1 known frame_shift_del c.1219 p.R409fs 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors BCL3 HGNC ENSG00000069399 355 0 0 531 72 11.9403 APOC1P1 0 genome.wustl.edu 37 19 45434322 45434322 + RNA DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 45434322 45434322 A - DEL APOC1P1 ENST00000507983 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors APOC1P1 HGNC ENSG00000214855 117 0 0 106 23 17.8295 SCAF1 0 genome.wustl.edu 37 19 50158042 50158042 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 50158042 50158042 C - DEL SCAF1 ENST00000360565 human ensembl 74_37 +1 known frame_shift_del c.3533 p.T1181fs 0.934 NULL NULL - no_errors SCAF1 HGNC ENSG00000126461 54 0 0 80 6 6.97674 MIR125A 0 genome.wustl.edu 37 19 52196036 52196036 + RNA DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 52196036 52196036 C - DEL MIR125A ENST00000602324 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors hsa-mir-125a miRBase ENSG00000269959 66 0 0 44 9 16.9811 ZNF468 0 genome.wustl.edu 37 19 53344851 53344851 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 53344851 53344851 T - DEL ZNF468 ENST00000595646 human ensembl 74_37 -1 known frame_shift_del c.696 p.K232fs 0.001 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF468 HGNC ENSG00000204604 99 0 0 84 15 15.1515 NLRP13 0 genome.wustl.edu 37 19 56423266 56423266 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 56423266 56423266 A - DEL NLRP13 ENST00000342929 human ensembl 74_37 -1 known frame_shift_del c.1917 p.H640fs 0.003 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP13 HGNC ENSG00000173572 127 0 0 98 20 16.9492 FBN3 0 genome.wustl.edu 37 19 8193949 8193949 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 8193949 8193949 G - DEL FBN3 ENST00000270509 human ensembl 74_37 -1 known frame_shift_del c.2259 p.G754fs 0.646 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 102 0 0 89 9 9.18367 MUC16 0 genome.wustl.edu 37 19 9049102 9049103 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 19 9049102 9049103 - A INS MUC16 ENST00000397910 human ensembl 74_37 -1 known frame_shift_ins c.32529_32528 p.H10844fs 0.001:0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 170 0 0 138 29 17.3653 AFF3 0 genome.wustl.edu 37 2 100199306 100199306 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 100199306 100199306 T - DEL AFF3 ENST00000356421 human ensembl 74_37 -1 known frame_shift_del c.2822 p.K941fs 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 112 0 0 118 10 7.8125 IL1R2 0 genome.wustl.edu 37 2 102638649 102638649 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 102638649 102638649 A - DEL IL1R2 ENST00000332549 human ensembl 74_37 +1 known frame_shift_del c.689 p.E233fs 0.987 prints_IL-1_rcpt_II-typ pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 257 0 0 268 42 13.5484 MFSD9 0 genome.wustl.edu 37 2 103334978 103334978 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 103334978 103334978 G - DEL MFSD9 ENST00000258436 human ensembl 74_37 -1 known frame_shift_del c.1326 p.S443fs 0.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG - no_errors MFSD9 HGNC ENSG00000135953 81 0 0 79 31 28.1818 GCC2 0 genome.wustl.edu 37 2 109086477 109086477 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 109086477 109086477 A - DEL GCC2 ENST00000309863 human ensembl 74_37 +1 known frame_shift_del c.692 p.N233fs 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 160 0 0 134 39 22.5434 NCKAP5 0 genome.wustl.edu 37 2 133887625 133887625 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 133887625 133887625 T - DEL NCKAP5 ENST00000317721 human ensembl 74_37 -1 known frame_shift_del c.266 p.K89fs 1.000 NULL NULL - no_errors NCKAP5 HGNC ENSG00000176771 45 0 0 16 6 27.2727 ACVR2A 0 genome.wustl.edu 37 2 148683686 148683686 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 148683686 148683686 A - DEL ACVR2A ENST00000241416 human ensembl 74_37 +1 known frame_shift_del c.1303 p.K437fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_TGFB_receptor - no_errors ACVR2A HGNC ENSG00000121989 148 0 0 88 48 35.2941 SCN7A 0 genome.wustl.edu 37 2 167313548 167313548 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 167313548 167313548 A - DEL SCN7A ENST00000409855 human ensembl 74_37 -1 known frame_shift_del c.1122 p.F374fs 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 45 0 0 27 8 22.8571 SMC6 0 genome.wustl.edu 37 2 17888597 17888597 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 17888597 17888597 T - DEL SMC6 ENST00000381272 human ensembl 74_37 -1 known frame_shift_del c.1973 p.N658fs 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors SMC6 HGNC ENSG00000163029 108 0 0 50 17 25.3731 TTN 0 genome.wustl.edu 37 2 179659863 179659863 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 179659863 179659863 G - DEL TTN ENST00000342992 human ensembl 74_37 -1 known frame_shift_del c.1031 p.P344fs 1.000 NULL 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 91 0 0 89 18 16.8224 APOB 0 genome.wustl.edu 37 2 21228306 21228307 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 21228306 21228307 - A INS APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_ins c.11434_11433 p.E3811fs 1.000:1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 188 0 0 126 8 5.97015 BARD1 0 genome.wustl.edu 37 2 215646085 215646085 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 215646085 215646085 T - DEL BARD1 ENST00000260947 human ensembl 74_37 -1 known frame_shift_del c.513 p.D172fs 0.000 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 196 0 0 129 11 7.85714 SP140L 0 genome.wustl.edu 37 2 231266129 231266129 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 231266129 231266129 T - DEL SP140L ENST00000415673 human ensembl 74_37 +1 known frame_shift_del c.1471 p.F492fs 0.473 superfamily_Bromodomain,smart_Bromodomain pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140L HGNC ENSG00000185404 223 0 0 181 11 5.72917 AGAP1 0 genome.wustl.edu 37 2 236649677 236649677 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 236649677 236649677 C - DEL AGAP1 ENST00000304032 human ensembl 74_37 +1 known frame_shift_del c.381 p.P129fs 0.952 pfam_MIRO-like,pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP1 HGNC ENSG00000157985 65 0 0 49 13 20.9677 AHSA2 0 genome.wustl.edu 37 2 61413904 61413905 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 61413904 61413905 - C INS AHSA2 ENST00000357022 human ensembl 74_37 +1 known frame_shift_ins c.397_398 p.L135fs 0.002:0.001 NULL NULL - no_errors AHSA2 HGNC ENSG00000173209 57 0 0 30 8 21.0526 ZNF638 0 genome.wustl.edu 37 2 71650549 71650549 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 71650549 71650549 A - DEL ZNF638 ENST00000264447 human ensembl 74_37 +1 known frame_shift_del c.3905 p.G1305fs 0.992 NULL pfam_RRM_dom,smart_Znf_U1,smart_Znf_C2H2-like,smart_RRM_dom,pfscan_Znf_C2H2_matrin,pfscan_RRM_dom - no_errors ZNF638 HGNC ENSG00000075292 56 0 0 53 8 13.1148 RTKN 0 genome.wustl.edu 37 2 74653450 74653450 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 2 74653450 74653450 G - DEL RTKN ENST00000272430 human ensembl 74_37 -1 known frame_shift_del c.1612 p.L538fs 0.946 NULL pfam_Pleckstrin_homology,pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors RTKN HGNC ENSG00000114993 172 0 0 178 67 27.3469 PLAGL2 0 genome.wustl.edu 37 20 30789952 30789952 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 30789952 30789952 G - DEL PLAGL2 ENST00000246229 human ensembl 74_37 -1 known frame_shift_del c.30 p.W11fs 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAGL2 HGNC ENSG00000126003 76 0 0 50 7 12.2807 FAM83D 0 genome.wustl.edu 37 20 37555035 37555035 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 37555035 37555035 C - DEL FAM83D ENST00000217429 human ensembl 74_37 +1 known frame_shift_del c.40 p.R14fs 0.000 NULL pfam_DUF1669 - no_errors FAM83D HGNC ENSG00000101447 60 0 0 29 17 36.9565 ZFP64 0 genome.wustl.edu 37 20 50769075 50769076 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 50769075 50769076 - G INS ZFP64 ENST00000216923 human ensembl 74_37 -1 known frame_shift_ins c.1656_1655 p.Q553fs 0.000:0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFP64 HGNC ENSG00000020256 53 0 0 59 7 10.6061 FAM209A 0 genome.wustl.edu 37 20 55100911 55100911 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 55100911 55100911 A - DEL FAM209A ENST00000371328 human ensembl 74_37 +1 known frame_shift_del c.301 p.R103fs 0.004 NULL NULL - no_errors FAM209A HGNC ENSG00000124103 146 0 0 107 46 30.0654 FAM217B 0 genome.wustl.edu 37 20 58519619 58519620 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 20 58519619 58519620 - C INS FAM217B ENST00000358293 human ensembl 74_37 +1 known frame_shift_ins c.621_622 p.T209fs 0.254:0.257 NULL NULL - no_errors FAM217B HGNC ENSG00000196227 93 0 0 98 6 5.76923 BRWD1 0 genome.wustl.edu 37 21 40582837 40582837 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 40582837 40582837 T - DEL BRWD1 ENST00000333229 human ensembl 74_37 -1 known frame_shift_del c.3919 p.S1307fs 1.000 superfamily_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 72 0 0 47 8 14.5455 CBS 0 genome.wustl.edu 37 21 44476174 44476175 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 44476174 44476175 - C INS CBS ENST00000398168 human ensembl 74_37 -1 known frame_shift_ins c.1588_1587 p.P529fs 0.937:0.945 tigrfam_Cysta_beta_synth pfam_Trp_syn_b_sub_like_PLP_eny_SF,pfam_CBS_dom,superfamily_Trp_syn_b_sub_like_PLP_eny_SF,smart_CBS_dom,tigrfam_Cysta_beta_synth - no_errors CBS HGNC ENSG00000160200 88 0 0 67 12 15.1899 SIK1 0 genome.wustl.edu 37 21 44836942 44836942 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 44836942 44836942 G - DEL SIK1 ENST00000270162 human ensembl 74_37 -1 known frame_shift_del c.2032 p.Q678fs 0.361 pirsf_Ser/Thr_kinase_SIK1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors SIK1 HGNC ENSG00000142178 8 0 0 7 5 41.6667 KRTAP10-6 0 genome.wustl.edu 37 21 46012219 46012220 + In_Frame_Ins INS - - GGGGCGCAGCAGCTG TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 46012219 46012220 - GGGGCGCAGCAGCTG INS KRTAP10-6 ENST00000400368 human ensembl 74_37 -1 known in_frame_ins c.147_146 p.50in_frame_insSCCAP 0.178:0.528 NULL NULL - no_errors KRTAP10-6 HGNC ENSG00000188155 71 0 0 103 11 9.64912 LSS 0 genome.wustl.edu 37 21 47626622 47626623 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 21 47626622 47626623 - C INS LSS ENST00000356396 human ensembl 74_37 -1 known frame_shift_ins c.1528_1527 p.H509fs 0.000:0.000 superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase,tigrfam_Squalene_cyclase - no_errors LSS HGNC ENSG00000160285 74 0 0 71 11 13.4146 TRMT2A 0 genome.wustl.edu 37 22 20100322 20100322 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 20100322 20100322 G - DEL TRMT2A ENST00000404751 human ensembl 74_37 -1 known frame_shift_del c.1664 p.P555fs 0.009 NULL pfam_U5_MeTrfase,pfam_PCMT,pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,pfam_tRNA_(Gua-N-7)_MeTrfase,pfam_UbiE/COQ5_MeTrFase,pfscan_RRM_dom - no_errors TRMT2A HGNC ENSG00000099899 64 0 0 48 9 15.7895 SEC14L6 0 genome.wustl.edu 37 22 30921855 30921855 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 30921855 30921855 C - DEL SEC14L6 ENST00000402034 human ensembl 74_37 -1 novel frame_shift_del c.729 p.T244fs 0.361 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran - no_errors SEC14L6 HGNC ENSG00000214491 40 0 0 37 5 11.9048 OSBP2 0 genome.wustl.edu 37 22 31289119 31289120 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 31289119 31289120 - C INS OSBP2 ENST00000332585 human ensembl 74_37 +1 known frame_shift_ins c.1880_1881 p.S630fs 1.000:1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP2 HGNC ENSG00000184792 47 0 0 37 8 17.7778 TRIOBP 0 genome.wustl.edu 37 22 38130773 38130773 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 22 38130773 38130773 G - DEL TRIOBP ENST00000406386 human ensembl 74_37 +1 known frame_shift_del c.4430 p.G1479fs 0.003 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors TRIOBP HGNC ENSG00000100106 26 0 0 28 9 24.3243 ENSG00000206567 0 genome.wustl.edu 37 3 10049217 10049217 + RNA DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 10049217 10049217 C - DEL ENSG00000206567 ENST00000383808 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors AC022007.5 Clone_based_vega_gene ENSG00000206567 194 0 0 197 15 7.07547 MORC1 0 genome.wustl.edu 37 3 108818240 108818240 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 108818240 108818240 A - DEL MORC1 ENST00000232603 human ensembl 74_37 -1 known frame_shift_del c.388 p.S130fs 1.000 superfamily_HATPase_ATP-bd pfam_Znf_CW,superfamily_HATPase_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 89 0 0 55 8 12.6984 TMEM39A 0 genome.wustl.edu 37 3 119176962 119176962 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 119176962 119176962 A - DEL TMEM39A ENST00000319172 human ensembl 74_37 -1 known frame_shift_del c.239 p.F80fs 1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 131 0 0 61 13 17.5676 EPHB1 0 genome.wustl.edu 37 3 134851848 134851848 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 134851848 134851848 C - DEL EPHB1 ENST00000398015 human ensembl 74_37 +1 known frame_shift_del c.1254 p.P420fs 0.998 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 74 0 0 52 11 17.4603 GPR87 0 genome.wustl.edu 37 3 151012163 151012163 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 151012163 151012163 T - DEL GPR87 ENST00000260843 human ensembl 74_37 -1 known frame_shift_del c.871 p.I291fs 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 93 0 0 64 16 20 C3orf33 0 genome.wustl.edu 37 3 155481558 155481558 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 155481558 155481558 T - DEL C3orf33 ENST00000340171 human ensembl 74_37 -1 known frame_shift_del c.633 p.G212fs 1.000 superfamily_Staphylococal_nuclease_OB-fold superfamily_Staphylococal_nuclease_OB-fold - no_errors C3orf33 HGNC ENSG00000174928 64 0 0 35 8 18.6047 DYNC1LI1 0 genome.wustl.edu 37 3 32569943 32569943 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 32569943 32569943 T - DEL DYNC1LI1 ENST00000273130 human ensembl 74_37 -1 known frame_shift_del c.1457 p.K486fs 1.000 pfam_Dynein_light_int_chain pfam_Dynein_light_int_chain,superfamily_P-loop_NTPase - no_errors DYNC1LI1 HGNC ENSG00000144635 62 0 0 50 12 19.3548 UBA3 0 genome.wustl.edu 37 3 69112219 69112220 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 3 69112219 69112220 - C INS UBA3 ENST00000361055 human ensembl 74_37 -1 known frame_shift_ins c.607_606 p.T202fs 1.000:0.824 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_E2_binding,pfam_UBact_repeat,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB - no_errors UBA3 HGNC ENSG00000144744 134 0 0 99 8 7.47664 ANK2 0 genome.wustl.edu 37 4 114214679 114214681 + In_Frame_Del DEL CAC CAC - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 114214679 114214681 CAC - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known in_frame_del c.2460_2462 p.T824in_frame_del 0.942:0.981:1.000 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 39 0 0 55 10 15.3846 ANK2 0 genome.wustl.edu 37 4 114290957 114290957 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 114290957 114290957 A - DEL ANK2 ENST00000357077 human ensembl 74_37 +1 known frame_shift_del c.11606 p.K3870fs 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 86 0 0 59 12 16.9014 TNIP3 0 genome.wustl.edu 37 4 122075764 122075764 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 122075764 122075764 T - DEL TNIP3 ENST00000057513 human ensembl 74_37 -1 known frame_shift_del c.434 p.N145fs 0.574 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 85 0 0 54 13 19.403 FAT4 0 genome.wustl.edu 37 4 126411565 126411566 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 126411565 126411566 - G INS FAT4 ENST00000394329 human ensembl 74_37 +1 known frame_shift_ins c.13588_13589 p.K4532fs 0.984:0.998 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 80 0 0 71 11 13.4146 ABCE1 0 genome.wustl.edu 37 4 146041224 146041224 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 146041224 146041224 A - DEL ABCE1 ENST00000296577 human ensembl 74_37 +1 known frame_shift_del c.1063 p.M357fs 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,pfam_RNaseL-inhib_metal-bd_dom,pfam_4Fe4S-bd_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,prints_ABC_E - no_errors ABCE1 HGNC ENSG00000164163 79 0 0 44 16 26.6667 NEIL3 0 genome.wustl.edu 37 4 178283558 178283558 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 178283558 178283558 A - DEL NEIL3 ENST00000264596 human ensembl 74_37 +1 known frame_shift_del c.1751 p.K585fs 1.000 pfam_Znf_GRF pfam_Znf_GRF,pfam_DNA_glyclase/AP_lyase_DNA-bd,pfam_Znf_RanBP2,superfamily_Ribosomal_S13-like_H2TH,superfamily_DNA_glycosylase/AP_lyase_cat,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Znf_DNA_glyclase/AP_lyase,pfscan_DNA_glycosylase/AP_lyase_cat - no_errors NEIL3 HGNC ENSG00000109674 125 0 0 79 20 20.202 PI4K2B 0 genome.wustl.edu 37 4 25278792 25278792 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 25278792 25278792 T - DEL PI4K2B ENST00000264864 human ensembl 74_37 +1 known frame_shift_del c.1429 p.S479fs 0.997 NULL pfam_PI3/4_kinase_cat_dom - no_errors PI4K2B HGNC ENSG00000038210 161 0 0 118 14 10.6061 NSUN7 0 genome.wustl.edu 37 4 40752837 40752837 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 4 40752837 40752837 C - DEL NSUN7 ENST00000381782 human ensembl 74_37 +1 known frame_shift_del c.127 p.P43fs 0.999 NULL pfam_Fmu/NOL1/Nop2p - no_errors NSUN7 HGNC ENSG00000179299 155 0 0 114 18 13.6364 ZNF608 0 genome.wustl.edu 37 5 123983182 123983183 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 123983182 123983183 - G INS ZNF608 ENST00000306315 human ensembl 74_37 -1 known frame_shift_ins c.2895_2894 p.S966fs 0.127:1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 126 0 0 121 8 6.20155 FAM13B 0 genome.wustl.edu 37 5 137278834 137278834 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 137278834 137278834 A - DEL FAM13B ENST00000033079 human ensembl 74_37 -1 known frame_shift_del c.2346 p.F782fs 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors FAM13B HGNC ENSG00000031003 100 0 0 40 7 14.8936 ARHGAP26 0 genome.wustl.edu 37 5 142437268 142437269 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 142437268 142437269 - A INS ARHGAP26 ENST00000274498 human ensembl 74_37 +1 known frame_shift_ins c.1494_1495 p.N499fs 1.000:1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_IRSp53/MIM_homology_IMD,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP26 HGNC ENSG00000145819 189 0 0 127 15 10.5634 TCERG1 0 genome.wustl.edu 37 5 145886723 145886724 + Frame_Shift_Del DEL AA AA - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 145886723 145886724 AA - DEL TCERG1 ENST00000296702 human ensembl 74_37 +1 known frame_shift_del c.2863_2864 p.K957fs 1.000:1.000 pfam_FF_domain,superfamily_FF_domain,smart_FF_domain pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 125 0 0 77 14 15.3846 SLC26A2 0 genome.wustl.edu 37 5 149357647 149357647 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 149357647 149357647 T - DEL SLC26A2 ENST00000286298 human ensembl 74_37 +1 known frame_shift_del c.432 p.F146fs 0.583 tigrfam_SulP_transpt pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt - no_errors SLC26A2 HGNC ENSG00000155850 117 0 0 130 23 15.0327 ADAM19 0 genome.wustl.edu 37 5 156920069 156920069 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 156920069 156920069 C - DEL ADAM19 ENST00000394020 human ensembl 74_37 -1 known frame_shift_del c.1826 p.G609fs 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM19 HGNC ENSG00000135074 102 0 0 89 17 16.0377 HMMR 0 genome.wustl.edu 37 5 162917426 162917426 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 162917426 162917426 A - DEL HMMR ENST00000393915 human ensembl 74_37 +1 known frame_shift_del c.1993 p.K667fs 1.000 NULL NULL - no_errors HMMR HGNC ENSG00000072571 124 0 0 72 9 11.1111 GRM6 0 genome.wustl.edu 37 5 178418555 178418555 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 178418555 178418555 C - DEL GRM6 ENST00000231188 human ensembl 74_37 -1 known frame_shift_del c.727 p.V243fs 0.986 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 182 0 0 158 18 10.2273 MSH3 0 genome.wustl.edu 37 5 79970915 79970915 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 79970915 79970915 A - DEL MSH3 ENST00000265081 human ensembl 74_37 +1 known frame_shift_del c.1141 p.K383fs 0.982 pfam_DNA_mmatch_repair_MutS_con_dom,superfamily_DNA_mmatch_repair_MutS_con_dom pfam_DNA_mismatch_repair_MutS_C,pfam_DNA_mismatch_repair_MutS_core,pfam_DNA_mmatch_repair_MutS_con_dom,pfam_DNA_mismatch_repair_MutS-lik_N,pfam_DNA_mismatch_repair_MutS_clamp,superfamily_DNA_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_DNA_mismatch_repair_MutS_N,superfamily_DNA_mmatch_repair_MutS_con_dom,smart_DNA_mismatch_repair_MutS_core,smart_DNA_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 206 2 0.961538 130 23 15.0327 HAPLN1 0 genome.wustl.edu 37 5 82948434 82948434 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 82948434 82948434 T - DEL HAPLN1 ENST00000274341 human ensembl 74_37 -1 known frame_shift_del c.310 p.T104fs 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN1 HGNC ENSG00000145681 168 0 0 140 10 6.66667 CHD1 0 genome.wustl.edu 37 5 98206409 98206409 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 5 98206409 98206409 T - DEL CHD1 ENST00000284049 human ensembl 74_37 -1 known frame_shift_del c.3960 p.E1321fs 1.000 superfamily_Homeodomain-like pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 143 0 0 87 7 7.44681 GRIK2 0 genome.wustl.edu 37 6 102503432 102503432 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 102503432 102503432 A - DEL GRIK2 ENST00000421544 human ensembl 74_37 +1 known frame_shift_del c.2539 p.N849fs 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK2 HGNC ENSG00000164418 199 0 0 132 20 13.1579 SOBP 0 genome.wustl.edu 37 6 107956280 107956282 + In_Frame_Del DEL GCC GCC - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 107956280 107956282 GCC - DEL SOBP ENST00000317357 human ensembl 74_37 +1 known in_frame_del c.2232_2234 p.P748in_frame_del 0.125:0.067:0.048 NULL NULL - no_errors SOBP HGNC ENSG00000112320 8 0 0 7 5 41.6667 KIAA1919 0 genome.wustl.edu 37 6 111587361 111587361 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 111587361 111587361 T - DEL KIAA1919 ENST00000368847 human ensembl 74_37 +1 known frame_shift_del c.596 p.C202fs 0.469 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors KIAA1919 HGNC ENSG00000173214 67 0 0 58 13 18.3099 LAMA4 0 genome.wustl.edu 37 6 112438990 112438991 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 112438990 112438991 - G INS LAMA4 ENST00000230538 human ensembl 74_37 -1 known frame_shift_ins c.4933_4932 p.M1644fs 0.979:0.611 superfamily_ConA-like_lec_gl_sf pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 154 0 0 90 25 21.7391 FAM26E 0 genome.wustl.edu 37 6 116836954 116836954 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 116836954 116836954 T - DEL FAM26E ENST00000368599 human ensembl 74_37 +1 known frame_shift_del c.732 p.F246fs 1.000 NULL NULL - no_errors FAM26E HGNC ENSG00000178033 132 0 0 96 19 16.5217 SOGA3 0 genome.wustl.edu 37 6 127804080 127804080 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 127804080 127804080 T - DEL SOGA3 ENST00000368268 human ensembl 74_37 -1 known frame_shift_del c.1535 p.K512fs 1.000 NULL pfam_SOGA - no_errors SOGA3 HGNC ENSG00000214338 201 1 0.49505 100 24 19.3548 HEBP2 0 genome.wustl.edu 37 6 138734183 138734184 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 138734183 138734184 - A INS HEBP2 ENST00000607197 human ensembl 74_37 +1 known frame_shift_ins c.586_587 p.N198fs 1.000:1.000 NULL pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP2 HGNC ENSG00000051620 140 0 0 100 11 9.90991 SHPRH 0 genome.wustl.edu 37 6 146264759 146264759 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 146264759 146264759 T - DEL SHPRH ENST00000367503 human ensembl 74_37 -1 known frame_shift_del c.1758 p.G587fs 0.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 173 1 0.574713 110 26 19.1176 SYNJ2 0 genome.wustl.edu 37 6 158497755 158497755 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 158497755 158497755 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.2390 p.A799fs 0.878 pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 62 0 0 57 14 19.7183 SYNJ2 0 genome.wustl.edu 37 6 158508009 158508009 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 158508009 158508009 C - DEL SYNJ2 ENST00000355585 human ensembl 74_37 +1 known frame_shift_del c.3331 p.P1113fs 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 38 0 0 40 5 11.1111 QKI 0 genome.wustl.edu 37 6 163899920 163899920 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 163899920 163899920 A - DEL QKI ENST00000361752 human ensembl 74_37 +1 known frame_shift_del c.394 p.K134fs 1.000 smart_KH_dom pfam_KH_dom_type_1,smart_KH_dom - no_errors QKI HGNC ENSG00000112531 83 0 0 70 14 16.6667 FAM120B 0 genome.wustl.edu 37 6 170627589 170627590 + In_Frame_Ins INS - - CTGAACCCAGGCAAGAAGTTCCCACGTGTTCAGACC TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 170627589 170627590 - CTGAACCCAGGCAAGAAGTTCCCACGTGTTCAGACC INS FAM120B ENST00000537664 human ensembl 74_37 +1 known in_frame_ins c.1180_1181 p.398in_frame_insQEVPTCSDPEPR 0.003:0.006 NULL NULL - no_errors FAM120B HGNC ENSG00000112584 316 0 0 279 55 16.4671 TBP 0 genome.wustl.edu 37 6 170871047 170871052 + In_Frame_Del DEL CAGCAG CAGCAG - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 CAGCAG CAGCAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 170871047 170871052 CAGCAG - DEL TBP ENST00000230354 human ensembl 74_37 +1 known in_frame_del c.223_228 p.QQ78in_frame_del 0.979:0.985:0.989:0.992:0.994:0.994 NULL pfam_TBP,prints_TBP - no_errors TBP HGNC ENSG00000112592 59 0 0 55 9 14.0625 HIST1H1A 0 genome.wustl.edu 37 6 26017761 26017761 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 26017761 26017761 T - DEL HIST1H1A ENST00000244573 human ensembl 74_37 -1 known frame_shift_del c.200 p.K67fs 1.000 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1A HGNC ENSG00000124610 80 0 0 82 5 5.74713 BTN2A3P 0 genome.wustl.edu 37 6 26428209 26428210 + RNA INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 26428209 26428210 - A INS BTN2A3P ENST00000463944 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors BTN2A3P HGNC ENSG00000124549 101 0 0 91 6 6.18557 FLOT1 0 genome.wustl.edu 37 6 30708321 30708321 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 30708321 30708321 T - DEL FLOT1 ENST00000376389 human ensembl 74_37 -1 known frame_shift_del c.522 p.D175fs 1.000 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT1 HGNC ENSG00000137312 132 0 0 124 21 14.4828 TBC1D22B 0 genome.wustl.edu 37 6 37250062 37250063 + Frame_Shift_Ins INS - - C TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 37250062 37250063 - C INS TBC1D22B ENST00000373491 human ensembl 74_37 +1 known frame_shift_ins c.523_524 p.M178fs 1.000:0.996 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D22B HGNC ENSG00000065491 63 0 0 55 10 15.3846 DST 0 genome.wustl.edu 37 6 56374465 56374465 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 56374465 56374465 C - DEL DST ENST00000370754 human ensembl 74_37 -1 known frame_shift_del c.18894 p.T6299fs 0.027 superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 81 0 0 47 11 18.9655 PHF3 0 genome.wustl.edu 37 6 64408416 64408417 + Frame_Shift_Ins INS - - T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 64408416 64408417 - T INS PHF3 ENST00000262043 human ensembl 74_37 +1 known frame_shift_ins c.2903_2904 p.R971fs 0.995:0.990 pfam_TFIIS_cen_dom,superfamily_TFIIS_cen_dom,smart_TFS2M pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors PHF3 HGNC ENSG00000118482 104 0 0 44 14 24.1379 TTK 0 genome.wustl.edu 37 6 80751897 80751897 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 80751897 80751897 A - DEL TTK ENST00000369798 human ensembl 74_37 +1 known frame_shift_del c.2552 p.R854fs 0.102 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTK HGNC ENSG00000112742 127 0 0 70 9 11.3924 ZNF292 0 genome.wustl.edu 37 6 87969484 87969484 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 6 87969484 87969484 A - DEL ZNF292 ENST00000369577 human ensembl 74_37 +1 known frame_shift_del c.6137 p.S2049fs 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF292 HGNC ENSG00000188994 22 0 0 11 7 38.8889 NYAP1 0 genome.wustl.edu 37 7 100087051 100087052 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 100087051 100087052 - G INS NYAP1 ENST00000423930 human ensembl 74_37 +1 known frame_shift_ins c.1707_1708 p.V571fs 0.997:1.000 NULL NULL - no_errors NYAP1 HGNC ENSG00000166924 54 0 0 63 7 10 SRRT 0 genome.wustl.edu 37 7 100484536 100484539 + Frame_Shift_Del DEL AAGG AAGG - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 AAGG AAGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 100484536 100484539 AAGG - DEL SRRT ENST00000388793 human ensembl 74_37 +1 known frame_shift_del c.1765_1768 p.E590fs 1.000:1.000:1.000:1.000 NULL pfam_Arsenite-R_2,pfam_DUF3546 - no_errors SRRT HGNC ENSG00000087087 112 0 0 137 15 9.86842 AP1S1 0 genome.wustl.edu 37 7 100802405 100802405 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 100802405 100802405 G - DEL AP1S1 ENST00000337619 human ensembl 74_37 +1 known frame_shift_del c.357 p.D122fs 1.000 pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu pfam_AP_mu_sigma_su,superfamily_Longin-like_dom,pirsf_AP_complex_ssu - no_errors AP1S1 HGNC ENSG00000106367 50 0 0 51 11 17.7419 DNAJC2 0 genome.wustl.edu 37 7 102964991 102964992 + Frame_Shift_Ins INS - - T TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 102964991 102964992 - T INS DNAJC2 ENST00000379263 human ensembl 74_37 -1 known frame_shift_ins c.591_590 p.N197fs 1.000:1.000 NULL pfam_SANT/Myb,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_Homeodomain-like,smart_DnaJ_domain,smart_SANT/Myb,pfscan_Myb-like_dom,pfscan_DnaJ_domain - no_errors DNAJC2 HGNC ENSG00000105821 116 0 0 65 5 7.14286 PRKAR2B 0 genome.wustl.edu 37 7 106799946 106799947 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 106799946 106799947 - A INS PRKAR2B ENST00000265717 human ensembl 74_37 +1 known frame_shift_ins c.1176_1177 p.R393fs 1.000:1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 101 0 0 69 16 18.8235 LAMB1 0 genome.wustl.edu 37 7 107572748 107572751 + Frame_Shift_Del DEL TCCT TCCT - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 TCCT TCCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 107572748 107572751 TCCT - DEL LAMB1 ENST00000222399 human ensembl 74_37 -1 known frame_shift_del c.4263_4260 p.G1421fs 0.085:1.000:1.000:0.455 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 157 0 0 164 14 7.86517 EPHA1 0 genome.wustl.edu 37 7 143095887 143095887 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 143095887 143095887 C - DEL EPHA1 ENST00000275815 human ensembl 74_37 -1 known frame_shift_del c.1143 p.C383fs 0.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,superfamily_SAM/pointed,superfamily_Fibronectin_type3,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA1 HGNC ENSG00000146904 45 0 0 61 5 7.57576 CARD11 0 genome.wustl.edu 37 7 2968323 2968323 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 2968323 2968323 G - DEL CARD11 ENST00000396946 human ensembl 74_37 -1 known frame_shift_del c.1663 p.R555fs 0.080 NULL pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,superfamily_PDZ,pfscan_CARD - no_errors CARD11 HGNC ENSG00000198286 70 0 0 96 13 11.9266 NEUROD6 0 genome.wustl.edu 37 7 31378635 31378635 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 31378635 31378635 T - DEL NEUROD6 ENST00000297142 human ensembl 74_37 -1 known frame_shift_del c.248 p.K83fs 1.000 pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD6 HGNC ENSG00000164600 316 0 0 329 19 5.45977 SFRP4 0 genome.wustl.edu 37 7 37951761 37951761 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 37951761 37951761 G - DEL SFRP4 ENST00000436072 human ensembl 74_37 -1 known frame_shift_del c.751 p.H251fs 0.999 pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 189 0 0 142 14 8.97436 VPS41 0 genome.wustl.edu 37 7 38810820 38810820 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 38810820 38810820 T - DEL VPS41 ENST00000310301 human ensembl 74_37 -1 known frame_shift_del c.1163 p.N388fs 1.000 pirsf_VPS41 pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_VPS41,pfscan_Znf_RING - no_errors VPS41 HGNC ENSG00000006715 86 0 0 50 17 25.3731 CDK13 0 genome.wustl.edu 37 7 40102647 40102647 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 40102647 40102647 A - DEL CDK13 ENST00000181839 human ensembl 74_37 +1 known frame_shift_del c.2728 p.K911fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK13 HGNC ENSG00000065883 116 0 0 107 27 20.1493 PAPOLB 0 genome.wustl.edu 37 7 4900105 4900105 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 4900105 4900105 T - DEL PAPOLB ENST00000404991 human ensembl 74_37 -1 known frame_shift_del c.1334 p.K445fs 0.498 pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLB HGNC ENSG00000218823 190 0 0 174 15 7.93651 ACTB 0 genome.wustl.edu 37 7 5568135 5568137 + In_Frame_Del DEL GAG GAG - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 5568135 5568137 GAG - DEL ACTB ENST00000331789 human ensembl 74_37 -1 known in_frame_del c.579_577 p.L193in_frame_del 1.000:1.000:1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTB HGNC ENSG00000075624 113 0 0 99 37 27.2059 AKAP9 0 genome.wustl.edu 37 7 91732039 91732039 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 91732039 91732039 G - DEL AKAP9 ENST00000359028 human ensembl 74_37 +1 known frame_shift_del c.11241 p.Q3750fs 1.000 pfam_PACT_domain pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB - no_errors AKAP9 HGNC ENSG00000127914 222 0 0 222 24 9.7561 FAM133B 0 genome.wustl.edu 37 7 92208639 92208639 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 7 92208639 92208639 T - DEL FAM133B ENST00000445716 human ensembl 74_37 -1 known frame_shift_del c.193 p.M65fs 1.000 NULL NULL - no_errors FAM133B HGNC ENSG00000234545 57 0 0 38 18 32.1429 LRP12 0 genome.wustl.edu 37 8 105509429 105509429 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 105509429 105509429 A - DEL LRP12 ENST00000424843 human ensembl 74_37 -1 known frame_shift_del c.1294 p.C432fs 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 126 1 0.787402 86 29 25.2174 FAM86B2 0 genome.wustl.edu 37 8 12285156 12285156 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 12285156 12285156 G - DEL FAM86B2 ENST00000393715 human ensembl 74_37 -1 known frame_shift_del c.218 p.P73fs 0.012 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 116 0 0 106 12 10.1695 ADAM28 0 genome.wustl.edu 37 8 24167472 24167473 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 8 24167472 24167473 - A INS ADAM28 ENST00000265769 human ensembl 74_37 +1 known frame_shift_ins c.216_217 p.N74fs 1.000:1.000 pfam_Peptidase_M12B_N pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM28 HGNC ENSG00000042980 132 0 0 88 15 14.5631 STXBP1 0 genome.wustl.edu 37 9 130453135 130453135 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 130453135 130453135 A - DEL STXBP1 ENST00000373299 human ensembl 74_37 +1 known frame_shift_del c.1784 p.*595fs 1.000 NULL pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP1 HGNC ENSG00000136854 138 0 0 112 22 16.4179 PIP5KL1 0 genome.wustl.edu 37 9 130687534 130687534 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 130687534 130687534 G - DEL PIP5KL1 ENST00000300432 human ensembl 74_37 -1 known frame_shift_del c.160 p.Q54fs 1.000 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5KL1 HGNC ENSG00000167103 50 0 0 59 9 13.2353 ODF2 0 genome.wustl.edu 37 9 131256894 131256895 + Frame_Shift_Del DEL TA TA - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 131256894 131256895 TA - DEL ODF2 ENST00000434106 human ensembl 74_37 +1 known frame_shift_del c.1858_1859 p.Y620fs 1.000:0.994 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 96 0 0 57 16 21.9178 PKN3 0 genome.wustl.edu 37 9 131476550 131476550 + Frame_Shift_Del DEL C C - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 131476550 131476550 C - DEL PKN3 ENST00000291906 human ensembl 74_37 +1 known frame_shift_del c.1387 p.C465fs 1.000 NULL pfam_Prot_kinase_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_dom,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_dom - no_errors PKN3 HGNC ENSG00000160447 132 0 0 163 33 16.8367 TRAF2 0 genome.wustl.edu 37 9 139802655 139802655 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 139802655 139802655 G - DEL TRAF2 ENST00000359662 human ensembl 74_37 +1 known frame_shift_del c.656 p.A220fs 0.188 pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF2 HGNC ENSG00000127191 19 0 0 20 9 31.0345 CNTLN 0 genome.wustl.edu 37 9 17484353 17484353 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 17484353 17484353 A - DEL CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_del c.3916 p.M1308fs 0.999 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 192 0 0 117 27 18.75 ERMP1 0 genome.wustl.edu 37 9 5801292 5801292 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 5801292 5801292 T - DEL ERMP1 ENST00000339450 human ensembl 74_37 -1 known frame_shift_del c.1951 p.T651fs 0.994 NULL pfam_Peptidase_M28,pfam_Peptidase_M20 - no_errors ERMP1 HGNC ENSG00000099219 81 0 0 35 10 22.2222 PTCH1 0 genome.wustl.edu 37 9 98209617 98209617 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf 9 98209617 98209617 G - DEL PTCH1 ENST00000331920 human ensembl 74_37 -1 known frame_shift_del c.3921 p.R1308fs 0.441 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 139 0 0 112 19 14.5038 TLR8 0 genome.wustl.edu 37 X 12937531 12937531 + Frame_Shift_Del DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 12937531 12937531 A - DEL TLR8 ENST00000218032 human ensembl 74_37 +1 known frame_shift_del c.372 p.N126fs 0.003 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 250 0 0 175 13 6.91489 MST4 0 genome.wustl.edu 37 X 131203604 131203605 + Frame_Shift_Ins INS - - A TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 131203604 131203605 - A INS MST4 ENST00000394334 human ensembl 74_37 +1 known frame_shift_ins c.696_697 p.N233fs 1.000:1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MST4 Uniprot_gn ENSG00000134602 86 0 0 38 8 17.3913 MAP7D3 0 genome.wustl.edu 37 X 135314194 135314194 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 135314194 135314194 G - DEL MAP7D3 ENST00000370663 human ensembl 74_37 -1 known frame_shift_del c.868 p.Q290fs 0.000 NULL pfam_MAP7 - no_errors MAP7D3 HGNC ENSG00000129680 352 0 0 303 56 15.5989 MOSPD2 0 genome.wustl.edu 37 X 14933883 14933883 + Frame_Shift_Del DEL G G - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 14933883 14933883 G - DEL MOSPD2 ENST00000380492 human ensembl 74_37 +1 known frame_shift_del c.1183 p.G396fs 1.000 pfam_MSP_dom,superfamily_PapD-like,pfscan_MSP_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 123 0 0 135 14 9.39597 CSAG1 0 genome.wustl.edu 37 X 151908802 151908803 + Frame_Shift_Ins INS - - G TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 151908802 151908803 - G INS CSAG1 ENST00000370287 human ensembl 74_37 +1 known frame_shift_ins c.41_42 p.E16fs 0.020:0.013 NULL NULL - no_errors CSAG1 HGNC ENSG00000198930 291 1 0.342466 220 42 16.0305 BCAP31 0 genome.wustl.edu 37 X 152988709 152988711 + In_Frame_Del DEL AGA AGA - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 152988709 152988711 AGA - DEL BCAP31 ENST00000458587 human ensembl 74_37 -1 known in_frame_del c.192_190 p.S65in_frame_del 0.010:0.015:0.013 NULL pfam_Bap31 - no_errors BCAP31 HGNC ENSG00000185825 30 0 0 19 6 24 SRPX 0 genome.wustl.edu 37 X 38033445 38033445 + Frame_Shift_Del DEL T T - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 38033445 38033445 T - DEL SRPX ENST00000378533 human ensembl 74_37 -1 known frame_shift_del c.317 p.N106fs 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Hyalin,pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Hyalin,pfscan_Sushi_SCR_CCP - no_errors SRPX HGNC ENSG00000101955 133 0 0 69 23 25 HUWE1 0 genome.wustl.edu 37 X 53562382 53562384 + In_Frame_Del DEL CTT CTT - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 53562382 53562384 CTT - DEL HUWE1 ENST00000262854 human ensembl 74_37 -1 known in_frame_del c.12612_12610 p.K4204in_frame_del 1.000:1.000:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT 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 105 0 0 82 10 10.8696 XIST 0 genome.wustl.edu 37 X 73070114 73070114 + RNA DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 73070114 73070114 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors XIST HGNC ENSG00000229807 68 0 0 40 7 14.8936 XIST 0 genome.wustl.edu 37 X 73071846 73071846 + RNA DEL A A - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 73071846 73071846 A - DEL XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors XIST HGNC ENSG00000229807 33 0 0 31 8 20.5128 ATRX 0 genome.wustl.edu 37 X 76907782 76907784 + In_Frame_Del DEL TCC TCC - TCGA-BR-6566-01A-11D-1800-08 TCGA-BR-6566-10A-01D-1800-08 TCC TCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1711a24c-b7ae-4201-9f26-cf2403a84f40 fecaae37-316f-4955-9ae6-ba247f6813bf X 76907782 76907784 TCC - DEL ATRX ENST00000373344 human ensembl 74_37 -1 known in_frame_del c.4379_4377 p.E1463in_frame_del 0.844:0.838:0.239 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 171 0 0 109 32 22.695