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 HMGCS2 0 genome.wustl.edu 37 1 120293528 120293528 + Missense_Mutation SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 120293528 120293528 T C SNP HMGCS2 ENST00000369406 human ensembl 74_37 -1 known missense c.1424 p.N475S 1.000 pfam_HMG_CoA_synt_C,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk pfam_HMG_CoA_synt_C,pfam_HMG_CoA_synth_N,superfamily_Thiolase-like,tigrfam_HMG_CoA_synthase_euk - no_errors HMGCS2 HGNC ENSG00000134240 27 0 0 28 2 6.66667 CD1D 0 genome.wustl.edu 37 1 158151309 158151309 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 158151309 158151309 G A SNP CD1D ENST00000368171 human ensembl 74_37 +1 known silent c.126 p.T42 0.003 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 351 0 0 211 39 15.6 SPTA1 0 genome.wustl.edu 37 1 158613204 158613204 + Silent SNP G G T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 158613204 158613204 G T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known silent c.4350 p.I1450 0.998 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 52 0 0 41 5 10.8696 OR6N2 0 genome.wustl.edu 37 1 158746540 158746540 + Nonsense_Mutation SNP C C A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 158746540 158746540 C A SNP OR6N2 ENST00000339258 human ensembl 74_37 -1 known nonsense c.886 p.E296* 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N2 HGNC ENSG00000188340 134 0 0 128 12 8.57143 LRRN2 0 genome.wustl.edu 37 1 204588700 204588700 + Missense_Mutation SNP C C G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 204588700 204588700 C G SNP LRRN2 ENST00000367175 human ensembl 74_37 -1 known missense c.421 p.A141P 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRN2 HGNC ENSG00000170382 283 0 0 159 44 21.6749 HSPG2 0 genome.wustl.edu 37 1 22199882 22199882 + Missense_Mutation SNP C C G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 22199882 22199882 C G SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.3779 p.G1260A 1.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 293 1 0.340136 113 47 29.375 OBSCN 0 genome.wustl.edu 37 1 228434292 228434292 + Missense_Mutation SNP C C G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 228434292 228434292 C G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known missense c.3821 p.A1274G 0.014 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 180 1 0.552486 60 39 39.3939 OR2T5 0 genome.wustl.edu 37 1 248652175 248652175 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 248652175 248652175 G A SNP OR2T5 ENST00000366473 human ensembl 74_37 +1 known missense c.286 p.V96I 0.406 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 OR2T5 HGNC ENSG00000203661 12 0 0 10 7 41.1765 PDE4B 0 genome.wustl.edu 37 1 66379016 66379016 + Missense_Mutation SNP G G T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 66379016 66379016 G T SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.19 p.V7L 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 61 0 0 58 4 6.45161 PTGER3 0 genome.wustl.edu 37 1 71512570 71512570 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 1 71512570 71512570 C T SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known missense c.691 p.A231T 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 254 0 0 166 9 5.14286 PITRM1 0 genome.wustl.edu 37 10 3185599 3185599 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 10 3185599 3185599 G A SNP PITRM1 ENST00000380989 human ensembl 74_37 -1 known missense c.2630 p.T877M 0.534 pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 pfam_Peptidase_M16C_assoc,pfam_Peptidase_M16_C,pfam_Pept_M16_N,superfamily_Metalloenz_LuxS/M16 - no_errors PITRM1 HGNC ENSG00000107959 92 0 0 41 4 8.88889 OIT3 0 genome.wustl.edu 37 10 74684272 74684272 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 10 74684272 74684272 C T SNP OIT3 ENST00000334011 human ensembl 74_37 +1 known missense c.1237 p.R413C 0.781 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors OIT3 HGNC ENSG00000138315 136 0 0 132 7 5.03597 ATM 0 genome.wustl.edu 37 11 108128225 108128225 + Silent SNP A A T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 11 108128225 108128225 A T SNP ATM ENST00000278616 human ensembl 74_37 +1 known silent c.2268 p.A756 0.999 superfamily_ARM-type_fold pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors ATM HGNC ENSG00000149311 61 0 0 69 6 8 TBCEL 0 genome.wustl.edu 37 11 120924372 120924372 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 11 120924372 120924372 G A SNP TBCEL ENST00000422003 human ensembl 74_37 +1 known missense c.386 p.R129H 1.000 NULL pfscan_Ubiquitin_supergroup - no_errors TBCEL HGNC ENSG00000154114 51 0 0 59 6 9.23077 ANO9 0 genome.wustl.edu 37 11 421037 421037 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 11 421037 421037 G A SNP ANO9 ENST00000332826 human ensembl 74_37 -1 known silent c.1398 p.H466 0.822 pfam_Anoctamin pfam_Anoctamin - no_errors ANO9 HGNC ENSG00000185101 80 0 0 40 4 9.09091 CD6 0 genome.wustl.edu 37 11 60783242 60783242 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 11 60783242 60783242 C T SNP CD6 ENST00000313421 human ensembl 74_37 +1 known missense c.1445 p.S482L 0.176 NULL pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD6 HGNC ENSG00000013725 180 0 0 145 13 8.22785 KCNK4 0 genome.wustl.edu 37 11 64064717 64064717 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 11 64064717 64064717 G A SNP KCNK4 ENST00000394525 human ensembl 74_37 +1 known missense c.440 p.R147H 0.997 prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl_TASK 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 100 0 0 55 7 11.2903 NLRP14 0 genome.wustl.edu 37 11 7064768 7064768 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 11 7064768 7064768 C T SNP NLRP14 ENST00000299481 human ensembl 74_37 +1 known missense c.1511 p.S504F 0.004 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 NLRP14 HGNC ENSG00000158077 85 0 0 83 8 8.79121 KRT75 0 genome.wustl.edu 37 12 52822136 52822136 + Missense_Mutation SNP C C G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 12 52822136 52822136 C G SNP KRT75 ENST00000252245 human ensembl 74_37 -1 known missense c.1286 p.R429P 0.997 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT75 HGNC ENSG00000170454 122 0 0 43 21 32.8125 SMARCC2 0 genome.wustl.edu 37 12 56559122 56559122 + Missense_Mutation SNP A A C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 12 56559122 56559122 A C SNP SMARCC2 ENST00000267064 human ensembl 74_37 -1 known missense c.3119 p.V1040G 0.997 NULL pfam_SWIRM,pfam_SANT/Myb,superfamily_Homeodomain-like,superfamily_BRCT_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_SANT/Myb,pfscan_SWIRM,pfscan_Myb-like_dom - no_errors SMARCC2 HGNC ENSG00000139613 150 0 0 64 15 18.9873 BBS10 0 genome.wustl.edu 37 12 76740888 76740888 + Missense_Mutation SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 12 76740888 76740888 T C SNP BBS10 ENST00000393262 human ensembl 74_37 -1 known missense c.877 p.K293E 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,superfamily_GroEL-like_apical_dom - no_errors BBS10 HGNC ENSG00000179941 41 0 0 34 3 8.10811 NAV3 0 genome.wustl.edu 37 12 78569085 78569085 + Splice_Site SNP G G T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 12 78569085 78569085 G T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known splice_site c.4982-1 e25-1 1.000 - - - no_errors NAV3 HGNC ENSG00000067798 46 0 0 49 4 7.54717 RB1 0 genome.wustl.edu 37 13 48951169 48951169 + Missense_Mutation SNP A A T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 13 48951169 48951169 A T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known missense c.1331 p.Q444L 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 66 0 0 73 14 16.092 ARID4A 0 genome.wustl.edu 37 14 58795012 58795012 + Nonsense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 14 58795012 58795012 C T SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known nonsense c.640 p.R214* 1.000 pfam_RBB1NT pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 45 0 0 53 5 8.62069 RHOV 0 genome.wustl.edu 37 15 41165698 41165698 + Missense_Mutation SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 15 41165698 41165698 T C SNP RHOV ENST00000220507 human ensembl 74_37 -1 known missense c.269 p.E90G 1.000 pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RHOV HGNC ENSG00000104140 168 0 0 98 6 5.76923 SPTBN5 0 genome.wustl.edu 37 15 42167137 42167137 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 15 42167137 42167137 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.4405 p.R1469W 1.000 smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 70 0 0 33 3 8.33333 EDC3 0 genome.wustl.edu 37 15 74963882 74963882 + Missense_Mutation SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 15 74963882 74963882 T C SNP EDC3 ENST00000315127 human ensembl 74_37 -1 known missense c.398 p.Q133R 1.000 NULL pfam_YjeF_N_dom,pfam_FDF_dom,superfamily_YjeF_N_dom - no_errors EDC3 HGNC ENSG00000179151 132 0 0 107 7 6.14035 TTLL13 0 genome.wustl.edu 37 15 90799471 90799471 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 15 90799471 90799471 G A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.647 p.R216Q 0.930 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 162 0 0 113 8 6.61157 GPT2 0 genome.wustl.edu 37 16 46956237 46956237 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 16 46956237 46956237 G A SNP GPT2 ENST00000340124 human ensembl 74_37 +1 known missense c.1121 p.R374H 0.999 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors GPT2 HGNC ENSG00000166123 130 1 0.763359 82 6 6.81818 ZNF319 0 genome.wustl.edu 37 16 58030845 58030845 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 16 58030845 58030845 G A SNP ZNF319 ENST00000299237 human ensembl 74_37 -1 known missense c.1325 p.A442V 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF319 HGNC ENSG00000166188 36 0 0 23 3 11.5385 DHX38 0 genome.wustl.edu 37 16 72130190 72130190 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 16 72130190 72130190 G A SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.134 p.R45H 1.000 NULL 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 65 0 0 62 8 11.4286 GRIN2A 0 genome.wustl.edu 37 16 9934865 9934865 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 16 9934865 9934865 G A SNP GRIN2A ENST00000330684 human ensembl 74_37 -1 known silent c.1425 p.Y475 0.968 pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIN2A HGNC ENSG00000183454 139 0 0 133 19 12.5 SLC6A4 0 genome.wustl.edu 37 17 28539849 28539849 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 17 28539849 28539849 C T SNP SLC6A4 ENST00000261707 human ensembl 74_37 -1 known silent c.1113 p.T371 0.508 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfam_Na/ntran_symport_serotonin_N,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_serotonin_N - no_errors SLC6A4 HGNC ENSG00000108576 101 0 0 81 7 7.95455 KRTAP3-1 0 genome.wustl.edu 37 17 39165178 39165178 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 17 39165178 39165178 G A SNP KRTAP3-1 ENST00000391588 human ensembl 74_37 -1 known missense c.149 p.T50I 0.005 pfam_Keratin_matx pfam_Keratin_matx - no_errors KRTAP3-1 HGNC ENSG00000212901 76 0 0 74 6 7.5 CIC 0 genome.wustl.edu 37 19 42795827 42795827 + Missense_Mutation SNP G G C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 19 42795827 42795827 G C SNP CIC ENST00000575354 human ensembl 74_37 +1 known missense c.2816 p.G939A 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors CIC HGNC ENSG00000079432 205 0 0 80 44 35.4839 SAFB 0 genome.wustl.edu 37 19 5667069 5667069 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 19 5667069 5667069 C T SNP SAFB ENST00000588852 human ensembl 74_37 +1 known missense c.2347 p.R783C 0.983 NULL pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SAFB HGNC ENSG00000160633 188 0 0 112 23 17.037 GRHL1 0 genome.wustl.edu 37 2 10101324 10101324 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 2 10101324 10101324 C T SNP GRHL1 ENST00000324907 human ensembl 74_37 +1 known missense c.428 p.T143M 1.000 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 59 0 0 55 4 6.77966 TPO 0 genome.wustl.edu 37 2 1544475 1544475 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 2 1544475 1544475 G A SNP TPO ENST00000329066 human ensembl 74_37 +1 known missense c.2728 p.A910T 0.000 NULL pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 99 0 0 67 6 8.21918 CSRNP3 0 genome.wustl.edu 37 2 166535704 166535704 + Missense_Mutation SNP A A G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 2 166535704 166535704 A G SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.1199 p.H400R 0.999 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 78 0 0 71 12 14.4578 TTN 0 genome.wustl.edu 37 2 179586749 179586749 + Silent SNP A A C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 2 179586749 179586749 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.18909 p.T6303 0.994 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 187 0 0 188 12 6 DNAH7 0 genome.wustl.edu 37 2 196825572 196825572 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 2 196825572 196825572 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.2303 p.R768H 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 100 0 0 111 22 16.5414 CNRIP1 0 genome.wustl.edu 37 2 68520911 68520911 + RNA SNP C C A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 2 68520911 68520911 C A SNP CNRIP1 ENST00000481714 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CNRIP1 HGNC ENSG00000119865 31 0 0 21 5 19.2308 ACSS2 0 genome.wustl.edu 37 20 33508811 33508811 + Missense_Mutation SNP T T G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 20 33508811 33508811 T G SNP ACSS2 ENST00000253382 human ensembl 74_37 +1 known missense c.1185 p.F395L 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS2 HGNC ENSG00000131069 297 1 0.33557 181 26 12.5604 SLC12A5 0 genome.wustl.edu 37 20 44664476 44664476 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 20 44664476 44664476 G A SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known missense c.409 p.V137I 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 77 0 0 53 7 11.6667 COL6A2 0 genome.wustl.edu 37 21 47552423 47552423 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 21 47552423 47552423 C T SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.3017 p.A1006V 0.528 smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 50 0 0 24 3 11.1111 MRAS 0 genome.wustl.edu 37 3 138116252 138116252 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 3 138116252 138116252 G A SNP MRAS ENST00000289104 human ensembl 74_37 +1 known missense c.280 p.V94I 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_EF_GTP-bd_dom,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors MRAS HGNC ENSG00000158186 97 0 0 44 5 10.2041 SLITRK3 0 genome.wustl.edu 37 3 164906811 164906811 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 3 164906811 164906811 C T SNP SLITRK3 ENST00000241274 human ensembl 74_37 -1 known missense c.1808 p.R603H 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK3 HGNC ENSG00000121871 66 0 0 61 4 6.15385 KLHL24 0 genome.wustl.edu 37 3 183368817 183368817 + Missense_Mutation SNP A A C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 3 183368817 183368817 A C SNP KLHL24 ENST00000242810 human ensembl 74_37 +1 known missense c.673 p.K225Q 1.000 pfam_BACK,smart_BACK,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 KLHL24 HGNC ENSG00000114796 81 0 0 91 9 9 TP63 0 genome.wustl.edu 37 3 189582154 189582154 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 3 189582154 189582154 C T SNP TP63 ENST00000264731 human ensembl 74_37 +1 known missense c.713 p.T238M 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor - no_errors TP63 HGNC ENSG00000073282 113 0 0 86 6 6.52174 P4HTM 0 genome.wustl.edu 37 3 49042339 49042339 + Missense_Mutation SNP C C G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 3 49042339 49042339 C G SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.933 p.S311R 0.096 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 191 1 0.520833 92 31 25.2033 FAM212A 0 genome.wustl.edu 37 3 49842272 49842272 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 3 49842272 49842272 G A SNP FAM212A ENST00000333323 human ensembl 74_37 +1 known missense c.716 p.R239K 1.000 NULL NULL - no_errors FAM212A HGNC ENSG00000185614 267 1 0.373134 104 55 34.5912 TRIM2 0 genome.wustl.edu 37 4 154191516 154191516 + Silent SNP C C A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 4 154191516 154191516 C A SNP TRIM2 ENST00000338700 human ensembl 74_37 +1 known silent c.60 p.G20 1.000 NULL pfam_NHL_repeat,pfam_Filamin/ABP280_repeat-like,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_Ig_E-set,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Filamin,pfscan_Filamin/ABP280_repeat-like,pfscan_NHL_repeat_subgr,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM2 HGNC ENSG00000109654 159 0 0 132 18 12 MARCH1 0 genome.wustl.edu 37 4 164466833 164466833 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 4 164466833 164466833 G A SNP MARCH1 ENST00000274056 human ensembl 74_37 -1 known silent c.486 p.H162 0.915 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,pfscan_Znf_RING - no_errors MARCH1 HGNC ENSG00000145416 94 0 0 93 14 13.0841 FRG1 0 genome.wustl.edu 37 4 190874255 190874255 + Missense_Mutation SNP A A T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 4 190874255 190874255 A T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.292 p.T98S 1.000 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 29 0 0 33 7 17.5 WDFY3 0 genome.wustl.edu 37 4 85715865 85715865 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 4 85715865 85715865 G A SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known silent c.3294 p.S1098 0.997 superfamily_ConA-like_lec_gl_sf 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 51 0 0 66 5 7.04225 ACSL6 0 genome.wustl.edu 37 5 131326567 131326567 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 5 131326567 131326567 G A SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.364 p.R122C 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 141 0 0 74 5 6.32911 BRD8 0 genome.wustl.edu 37 5 137503739 137503739 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 5 137503739 137503739 G A SNP BRD8 ENST00000254900 human ensembl 74_37 -1 known missense c.671 p.S224F 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD8 HGNC ENSG00000112983 185 0 0 74 54 42.1875 PCDHA11 0 genome.wustl.edu 37 5 140250589 140250589 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 5 140250589 140250589 G A SNP PCDHA11 ENST00000398640 human ensembl 74_37 +1 known missense c.1901 p.R634H 0.929 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 213 1 0.46729 93 8 7.92079 PCDHB6 0 genome.wustl.edu 37 5 140530549 140530549 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 5 140530549 140530549 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.711 p.N237 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 71 0 0 41 4 8.88889 PCDHB11 0 genome.wustl.edu 37 5 140581312 140581312 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 5 140581312 140581312 C T SNP PCDHB11 ENST00000354757 human ensembl 74_37 +1 known silent c.1965 p.T655 0.232 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHB11 HGNC ENSG00000197479 153 0 0 89 6 6.31579 FAM71B 0 genome.wustl.edu 37 5 156592829 156592829 + Silent SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 5 156592829 156592829 T C SNP FAM71B ENST00000302938 human ensembl 74_37 -1 known silent c.351 p.L117 0.676 pfam_DUF3699 pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 96 0 0 60 6 9.09091 PCSK1 0 genome.wustl.edu 37 5 95768636 95768636 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 5 95768636 95768636 C T SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known silent c.111 p.A37 0.992 superfamily_Prot_inh_propept pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 242 0 0 175 16 8.37696 DLL1 0 genome.wustl.edu 37 6 170592163 170592163 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 6 170592163 170592163 G A SNP DLL1 ENST00000366756 human ensembl 74_37 -1 known silent c.2079 p.D693 0.000 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 187 0 0 121 22 15.3846 HTR1B 0 genome.wustl.edu 37 6 78172596 78172596 + Silent SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 6 78172596 78172596 G A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known silent c.525 p.V175 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 136 0 0 79 6 7.05882 GPER1 0 genome.wustl.edu 37 7 1132016 1132016 + Missense_Mutation SNP G G C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 7 1132016 1132016 G C SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.652 p.E218Q 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_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 46 0 0 15 13 46.4286 ZNF775 0 genome.wustl.edu 37 7 150093795 150093795 + Missense_Mutation SNP C C A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 7 150093795 150093795 C A SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.226 p.P76T 0.567 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 22 0 0 18 3 14.2857 ZNF775 0 genome.wustl.edu 37 7 150093796 150093796 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 7 150093796 150093796 C T SNP ZNF775 ENST00000329630 human ensembl 74_37 +1 known missense c.227 p.P76L 0.566 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF775 HGNC ENSG00000196456 22 0 0 18 3 14.2857 HOXA13 0 genome.wustl.edu 37 7 27239615 27239615 + Missense_Mutation SNP C C A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 7 27239615 27239615 C A SNP HOXA13 ENST00000222753 human ensembl 74_37 -1 known missense c.82 p.A28S 1.000 NULL pfam_HoxA13_N,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Antifreeze_1 - no_errors HOXA13 HGNC ENSG00000106031 35 0 0 19 3 13.6364 TBL2 0 genome.wustl.edu 37 7 72984991 72984991 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 7 72984991 72984991 C T SNP TBL2 ENST00000305632 human ensembl 74_37 -1 known missense c.1190 p.R397Q 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TBL2 HGNC ENSG00000106638 84 0 0 52 7 11.8644 TFPI2 0 genome.wustl.edu 37 7 93519622 93519622 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 7 93519622 93519622 G A SNP TFPI2 ENST00000222543 human ensembl 74_37 -1 known missense c.98 p.A33V 0.001 pirsf_Prot_inhib_I2_TFPI,superfamily_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI2 HGNC ENSG00000105825 89 0 0 80 10 11.1111 ZFPM2 0 genome.wustl.edu 37 8 106814511 106814511 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 8 106814511 106814511 G A SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2201 p.R734H 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 43 0 0 38 3 7.31707 ZMAT4 0 genome.wustl.edu 37 8 40554842 40554842 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 8 40554842 40554842 C T SNP ZMAT4 ENST00000297737 human ensembl 74_37 -1 known missense c.271 p.D91N 0.999 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZMAT4 HGNC ENSG00000165061 112 0 0 90 6 6.25 TOX 0 genome.wustl.edu 37 8 59728015 59728015 + Missense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 8 59728015 59728015 G A SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.1274 p.P425L 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 60 0 0 47 7 12.963 PI15 0 genome.wustl.edu 37 8 75757681 75757681 + Nonsense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 8 75757681 75757681 G A SNP PI15 ENST00000260113 human ensembl 74_37 +1 known nonsense c.590 p.W197* 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors PI15 HGNC ENSG00000137558 76 0 0 82 7 7.86517 CIZ1 0 genome.wustl.edu 37 9 130940663 130940663 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 9 130940663 130940663 C T SNP CIZ1 ENST00000538431 human ensembl 74_37 -1 known silent c.1605 p.A535 0.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2_matrin - no_errors CIZ1 HGNC ENSG00000148337 207 0 0 159 16 9.14286 C9orf171 0 genome.wustl.edu 37 9 135374767 135374767 + Missense_Mutation SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 9 135374767 135374767 C T SNP C9orf171 ENST00000343036 human ensembl 74_37 +1 known missense c.412 p.R138C 1.000 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 127 0 0 65 6 8.4507 TMEM8C 0 genome.wustl.edu 37 9 136379890 136379890 + Silent SNP A A G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 9 136379890 136379890 A G SNP TMEM8C ENST00000339996 human ensembl 74_37 -1 known silent c.534 p.Y178 0.994 pfam_DUF3522 pfam_DUF3522 - no_errors TMEM8C HGNC ENSG00000187616 124 0 0 53 7 11.6667 GLT6D1 0 genome.wustl.edu 37 9 138518015 138518015 + Missense_Mutation SNP C C G TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 9 138518015 138518015 C G SNP GLT6D1 ENST00000371763 human ensembl 74_37 -1 known missense c.157 p.A53P 0.987 pfam_Glyco_trans_6 pfam_Glyco_trans_6 - no_errors GLT6D1 HGNC ENSG00000204007 133 0 0 68 20 22.7273 NSMF 0 genome.wustl.edu 37 9 140350865 140350865 + Silent SNP T T C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 9 140350865 140350865 T C SNP NSMF ENST00000371475 human ensembl 74_37 -1 known silent c.702 p.Q234 1.000 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors NSMF HGNC ENSG00000165802 521 0 0 246 18 6.81818 PLXNB3 0 genome.wustl.edu 37 X 153036951 153036951 + Silent SNP C C T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 X 153036951 153036951 C T SNP PLXNB3 ENST00000538966 human ensembl 74_37 +1 known silent c.2427 p.Y809 0.941 superfamily_Plexin-like_fold pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Plexin_repeat,pfam_Semap_dom,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB3 HGNC ENSG00000198753 47 0 0 17 5 22.7273 MAP7D2 0 genome.wustl.edu 37 X 20081624 20081624 + Nonsense_Mutation SNP G G A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 X 20081624 20081624 G A SNP MAP7D2 ENST00000379643 human ensembl 74_37 -1 known nonsense c.280 p.R94* 1.000 NULL pfam_MAP7 - no_errors MAP7D2 HGNC ENSG00000184368 66 0 0 55 7 11.2903 NPIPA5 0 genome.wustl.edu 37 16 15457565 15457566 + Frame_Shift_Del DEL AC AC - TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 16 15457565 15457566 AC - DEL NPIPA5 ENST00000360151 human ensembl 74_37 -1 novel frame_shift_del c.1004_1003 p.V335fs 0.000:0.000 NULL NULL - no_errors NPIPA5 HGNC ENSG00000183793 17 0 0 14 3 17.6471 RPL12P38 0 genome.wustl.edu 37 17 58512419 58512419 + RNA DEL A A - TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 17 58512419 58512419 A - DEL RPL12P38 ENST00000588627 human ensembl 74_37 -1 known rna NULL NULL 0.998 - - - no_errors RPL12P38 HGNC ENSG00000213228 21 0 0 10 3 23.0769 KDM6B 0 genome.wustl.edu 37 17 7751764 7751765 + Frame_Shift_Ins INS - - C TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 17 7751764 7751765 - C INS KDM6B ENST00000254846 human ensembl 74_37 +1 known frame_shift_ins c.2158_2159 p.Q722fs 0.013:0.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM6B HGNC ENSG00000132510 239 0 0 126 7 5.26316 RYR1 0 genome.wustl.edu 37 19 39019604 39019606 + In_Frame_Del DEL AGG AGG - TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 AGG AGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 19 39019604 39019606 AGG - DEL RYR1 ENST00000359596 human ensembl 74_37 +1 known in_frame_del c.11048_11050 p.E3687in_frame_del 1.000:1.000:1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 28 0 0 24 3 11.1111 SAE1 0 genome.wustl.edu 37 19 47712448 47712450 + In_Frame_Del DEL CTT CTT - TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 CTT CTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 19 47712448 47712450 CTT - DEL SAE1 ENST00000270225 human ensembl 74_37 +1 known in_frame_del c.981_983 p.F331in_frame_del 1.000:1.000:1.000 superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like - no_errors SAE1 HGNC ENSG00000142230 112 1 0.884956 91 13 12.5 MYH14 0 genome.wustl.edu 37 19 50766585 50766587 + In_Frame_Del DEL CAG CAG - TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 19 50766585 50766587 CAG - DEL MYH14 ENST00000262269 human ensembl 74_37 +1 known in_frame_del c.2602_2604 p.Q871in_frame_del 1.000:1.000:1.000 superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH14 HGNC ENSG00000105357 12 0 0 3 2 40 SMTN 0 genome.wustl.edu 37 22 31485922 31485922 + Frame_Shift_Del DEL C C - TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 22 31485922 31485922 C - DEL SMTN ENST00000347557 human ensembl 74_37 +1 known frame_shift_del c.709 p.S239fs 0.420 NULL pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors SMTN HGNC ENSG00000183963 28 0 0 14 2 12.5 ZNF717 0 genome.wustl.edu 37 3 75790810 75790811 + Frame_Shift_Ins INS - - T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 3 75790810 75790811 - T INS ZNF717 ENST00000422325 human ensembl 74_37 -1 known frame_shift_ins c.135_134 p.L46fs 0.999:0.997 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF717 HGNC ENSG00000227124 8 0 0 4 3 42.8571 C4orf46 0 genome.wustl.edu 37 4 159590922 159590923 + Splice_Site INS - - A TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 4 159590922 159590923 - A INS C4orf46 ENST00000379205 human ensembl 74_37 -1 known splice_site_ins c.187-3_187-2 e2-2 1.000:0.981 - - - no_errors C4orf46 HGNC ENSG00000205208 33 0 0 35 2 5.40541 ENSG00000236986 0 genome.wustl.edu 37 9 134008391 134008392 + RNA INS - - T TCGA-BR-A4J2-01A-21D-A25D-08 TCGA-BR-A4J2-10A-01D-A25E-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c0cd0e3b-9ffe-4231-a81d-1be43a73c495 2dda3e71-60cd-4ef0-8717-e4ea2fb2fa58 9 134008391 134008392 - T INS ENSG00000236986 ENST00000587264 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.002 - - - no_errors RP11-544A12.4 Clone_based_vega_gene ENSG00000236986 20 0 0 22 3 12