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 SLC6A17 0 genome.wustl.edu 37 1 110716597 110716597 + Silent SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 110716597 110716597 C A SNP SLC6A17 ENST00000331565 human ensembl 74_37 +1 known silent c.447 p.V149 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A17 HGNC ENSG00000197106 64 0 0 53 5 8.62069 SLC16A4 0 genome.wustl.edu 37 1 110925481 110925481 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 110925481 110925481 G A SNP SLC16A4 ENST00000369779 human ensembl 74_37 -1 known silent c.195 p.I65 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC16A4 HGNC ENSG00000168679 34 0 0 40 8 16.6667 HIPK1 0 genome.wustl.edu 37 1 114484035 114484035 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 114484035 114484035 G A SNP HIPK1 ENST00000369558 human ensembl 74_37 +1 known missense c.1030 p.V344I 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 HIPK1 HGNC ENSG00000163349 88 0 0 59 12 16.9014 HAO2 0 genome.wustl.edu 37 1 119927488 119927488 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 119927488 119927488 C T SNP HAO2 ENST00000361035 human ensembl 74_37 +1 known nonsense c.412 p.R138* 0.235 pfam_FMN-dep_DH,pirsf_Alpha-hydoxy_acid_DH_FMN pfam_FMN-dep_DH,pfam_IMP_DH_GMPRt,pfam_Glu_synth_centr_C,pirsf_Alpha-hydoxy_acid_DH_FMN - no_errors HAO2 HGNC ENSG00000116882 58 0 0 31 6 16.2162 S100A13 0 genome.wustl.edu 37 1 153598898 153598898 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 153598898 153598898 G A SNP S100A13 ENST00000339556 human ensembl 74_37 -1 known silent c.51 p.V17 0.978 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub - no_errors S100A13 HGNC ENSG00000189171 96 0 0 64 4 5.88235 OR6Y1 0 genome.wustl.edu 37 1 158516944 158516944 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 158516944 158516944 G T SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.952 p.Q318K 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6Y1 HGNC ENSG00000197532 32 0 0 22 5 18.5185 PVRL4 0 genome.wustl.edu 37 1 161044471 161044471 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 161044471 161044471 G A SNP PVRL4 ENST00000368012 human ensembl 74_37 -1 known silent c.930 p.S310 0.932 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PVRL4 HGNC ENSG00000143217 34 0 0 20 3 13.0435 FCGR2A 0 genome.wustl.edu 37 1 161487964 161487964 + RNA SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 161487964 161487964 T C SNP FCGR2A ENST00000461298 human ensembl 74_37 +1 known rna NULL NULL 0.150 - - - no_errors FCGR2A HGNC ENSG00000143226 23 0 0 18 4 18.1818 TOR1AIP2 0 genome.wustl.edu 37 1 179815828 179815828 + Missense_Mutation SNP T T A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 179815828 179815828 T A SNP TOR1AIP2 ENST00000367612 human ensembl 74_37 -1 known missense c.791 p.D264V 1.000 pfam_Lamina-ass_polypeptide_CLAP1C pfam_Lamina-ass_polypeptide_CLAP1C - no_errors TOR1AIP2 HGNC ENSG00000169905 49 0 0 30 4 11.7647 KCNH1 0 genome.wustl.edu 37 1 210857160 210857160 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 210857160 210857160 G A SNP KCNH1 ENST00000271751 human ensembl 74_37 -1 known silent c.2433 p.H811 0.323 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH1 HGNC ENSG00000143473 68 0 0 63 6 8.69565 PROX1 0 genome.wustl.edu 37 1 214170542 214170542 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 214170542 214170542 C T SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known nonsense c.664 p.Q222* 1.000 pfam_Homeo_prospero_dom pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 31 0 0 22 3 12 TRIM67 0 genome.wustl.edu 37 1 231335945 231335945 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 231335945 231335945 G A SNP TRIM67 ENST00000366652 human ensembl 74_37 +1 known missense c.1315 p.G439R 1.000 smart_Bbox_C pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box - no_errors TRIM67 HGNC ENSG00000119283 70 0 0 60 4 6.25 OR2C3 0 genome.wustl.edu 37 1 247695143 247695143 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 247695143 247695143 C T SNP OR2C3 ENST00000366487 human ensembl 74_37 -1 known missense c.671 p.R224Q 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2C3 HGNC ENSG00000196242 52 0 0 38 3 7.31707 OR2L8 0 genome.wustl.edu 37 1 248112179 248112179 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 248112179 248112179 C A SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.20 p.T7K 0.055 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 51 0 0 33 3 8.33333 OR2M5 0 genome.wustl.edu 37 1 248308649 248308649 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 248308649 248308649 T C SNP OR2M5 ENST00000366476 human ensembl 74_37 +1 known missense c.200 p.F67S 0.167 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 OR2M5 HGNC ENSG00000162727 180 0 0 174 10 5.43478 SNHG12 0 genome.wustl.edu 37 1 28905175 28905175 + RNA SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 28905175 28905175 C T SNP SNHG12 ENST00000475441 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors SNHG12 HGNC ENSG00000197989 37 0 0 23 8 25.8065 MROH7-TTC4 0 genome.wustl.edu 37 1 55119744 55119744 + Missense_Mutation SNP G G C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 55119744 55119744 G C SNP MROH7-TTC4 ENST00000414150 human ensembl 74_37 +1 known missense c.1145 p.S382T 0.000 NULL superfamily_ARM-type_fold - no_errors MROH7-TTC4 HGNC ENSG00000271723 19 0 0 17 3 15 DNAJC6 0 genome.wustl.edu 37 1 65855119 65855119 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 65855119 65855119 G A SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known silent c.1374 p.T458 0.770 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 23 0 0 29 4 12.1212 SH3GLB1 0 genome.wustl.edu 37 1 87188235 87188235 + Missense_Mutation SNP T T G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 87188235 87188235 T G SNP SH3GLB1 ENST00000482504 human ensembl 74_37 +1 known missense c.356 p.I119S 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 55 0 0 48 15 23.8095 ABCA4 0 genome.wustl.edu 37 1 94568687 94568687 + Nonsense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 94568687 94568687 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known nonsense c.454 p.R152* 0.996 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 65 0 0 47 4 7.84314 KNDC1 0 genome.wustl.edu 37 10 135013926 135013926 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 135013926 135013926 G A SNP KNDC1 ENST00000368572 human ensembl 74_37 +1 known missense c.2957 p.R986H 0.025 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_Kinase-like_dom,smart_KIND,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors KNDC1 HGNC ENSG00000171798 13 0 0 6 3 33.3333 ANKRD30A 0 genome.wustl.edu 37 10 37490214 37490214 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 37490214 37490214 C A SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.2662 p.H888N 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 34 0 0 22 3 12 ZNF33A 0 genome.wustl.edu 37 10 38344006 38344006 + Missense_Mutation SNP C C G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 38344006 38344006 C G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.972 p.H324Q 0.014 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 ZNF33A HGNC ENSG00000189180 52 0 0 38 9 19.1489 ZNF33A 0 genome.wustl.edu 37 10 38344156 38344156 + Missense_Mutation SNP T T G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 38344156 38344156 T G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.1122 p.D374E 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 ZNF33A HGNC ENSG00000189180 39 0 0 24 5 17.2414 ZNF33A 0 genome.wustl.edu 37 10 38344180 38344180 + Silent SNP A A G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 38344180 38344180 A G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known silent c.1146 p.Q382 0.987 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 ZNF33A HGNC ENSG00000189180 41 0 0 19 4 17.3913 BMS1 0 genome.wustl.edu 37 10 43287996 43287996 + Missense_Mutation SNP A A C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 43287996 43287996 A C SNP BMS1 ENST00000374518 human ensembl 74_37 +1 known missense c.835 p.K279Q 1.000 pfam_AARP2CN,superfamily_P-loop_NTPase,smart_AARP2CN pfam_BMS1_TSR1_C,pfam_AARP2CN,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_AARP2CN - no_errors BMS1 HGNC ENSG00000165733 63 0 0 41 4 8.88889 PCDH15 0 genome.wustl.edu 37 10 55698629 55698629 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 55698629 55698629 C A SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3319 p.V1107F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 29 0 0 33 7 17.5 ASB13 0 genome.wustl.edu 37 10 5693205 5693205 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 5693205 5693205 G A SNP ASB13 ENST00000357700 human ensembl 74_37 -1 known missense c.353 p.A118V 0.986 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 ASB13 HGNC ENSG00000196372 66 0 0 41 7 14.5833 FBXO18 0 genome.wustl.edu 37 10 5956183 5956183 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 10 5956183 5956183 G A SNP FBXO18 ENST00000379999 human ensembl 74_37 +1 known silent c.1500 p.L500 1.000 superfamily_P-loop_NTPase pfam_UvrD-like_ATP-bd,pfam_F-box_dom,superfamily_P-loop_NTPase,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO18 HGNC ENSG00000134452 67 0 0 46 8 14.8148 ATF4P4 0 genome.wustl.edu 37 11 113660985 113660985 + RNA SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 113660985 113660985 G A SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors ATF4P4 HGNC ENSG00000256167 19 0 0 14 3 17.6471 NFRKB 0 genome.wustl.edu 37 11 129758493 129758493 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 129758493 129758493 G T SNP NFRKB ENST00000524794 human ensembl 74_37 -1 known missense c.372 p.F124L 1.000 NULL NULL - no_errors NFRKB HGNC ENSG00000170322 46 0 0 38 5 11.6279 KRTAP5-2 0 genome.wustl.edu 37 11 1619193 1619193 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 1619193 1619193 C T SNP KRTAP5-2 ENST00000412090 human ensembl 74_37 -1 known silent c.288 p.G96 0.002 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 182 1 0.546448 131 12 8.39161 PTPN5 0 genome.wustl.edu 37 11 18754846 18754846 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 18754846 18754846 C T SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known missense c.1154 p.R385H 1.000 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 96 0 0 57 6 9.52381 CKAP5 0 genome.wustl.edu 37 11 46774874 46774874 + Missense_Mutation SNP C C G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 46774874 46774874 C G SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.5043 p.Q1681H 1.000 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 36 0 0 28 9 24.3243 OR51A4 0 genome.wustl.edu 37 11 4967678 4967678 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 4967678 4967678 G A SNP OR51A4 ENST00000380373 human ensembl 74_37 -1 known missense c.653 p.S218F 0.553 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 OR51A4 HGNC ENSG00000205497 25 0 0 21 6 22.2222 OR51B5 0 genome.wustl.edu 37 11 5364235 5364235 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 5364235 5364235 G T SNP OR51B5 ENST00000300773 human ensembl 74_37 -1 known missense c.520 p.H174N 0.866 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR51B5 HGNC ENSG00000242180 54 0 0 49 9 15.5172 OR4A16 0 genome.wustl.edu 37 11 55111534 55111534 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 55111534 55111534 G A SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known silent c.858 p.S286 0.103 prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 21 0 0 9 3 25 OR4C11 0 genome.wustl.edu 37 11 55371590 55371590 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 55371590 55371590 T C SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.260 p.K87R 0.057 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 OR4C11 HGNC ENSG00000172188 43 0 0 48 12 20 OR5R1 0 genome.wustl.edu 37 11 56185309 56185309 + Missense_Mutation SNP T T G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 56185309 56185309 T G SNP OR5R1 ENST00000312253 human ensembl 74_37 -1 known missense c.400 p.T134P 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5R1 HGNC ENSG00000174942 42 0 0 54 10 15.625 OR9G4 0 genome.wustl.edu 37 11 56510658 56510658 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 56510658 56510658 G A SNP OR9G4 ENST00000302957 human ensembl 74_37 -1 known silent c.630 p.Y210 0.104 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9G4 HGNC ENSG00000172457 23 0 0 12 10 45.4545 ANKRD42 0 genome.wustl.edu 37 11 82935914 82935914 + Nonsense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 82935914 82935914 G T SNP ANKRD42 ENST00000393392 human ensembl 74_37 +1 known nonsense c.520 p.E174* 1.000 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD42 HGNC ENSG00000137494 41 0 0 24 4 14.2857 DLG2 0 genome.wustl.edu 37 11 83810063 83810063 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 83810063 83810063 C A SNP DLG2 ENST00000376104 human ensembl 74_37 -1 known missense c.652 p.A218S 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_PDZ,pfam_GK/Ca_channel_bsu,pfam_MAGUK_PEST_N,pfam_PDZ_assoc,pfam_L27_1,pfam_SH3_2,pfam_SH3_domain,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG2 HGNC ENSG00000150672 25 0 0 25 2 7.40741 GPR83 0 genome.wustl.edu 37 11 94134339 94134339 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 94134339 94134339 G A SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known silent c.75 p.D25 0.001 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 50 0 0 36 9 20 SBF2 0 genome.wustl.edu 37 11 9801995 9801995 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 11 9801995 9801995 G T SNP SBF2 ENST00000256190 human ensembl 74_37 -1 known missense c.5520 p.D1840E 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology - no_errors SBF2 HGNC ENSG00000133812 27 0 0 23 3 11.5385 ANO4 0 genome.wustl.edu 37 12 101336287 101336287 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 12 101336287 101336287 G T SNP ANO4 ENST00000392977 human ensembl 74_37 +1 known missense c.430 p.A144S 1.000 NULL pfam_Anoctamin - no_errors ANO4 HGNC ENSG00000151572 69 0 0 65 6 8.4507 CIT 0 genome.wustl.edu 37 12 120150501 120150501 + Splice_Site SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 12 120150501 120150501 C T SNP CIT ENST00000261833 human ensembl 74_37 -1 known splice_site c.4454-1 e34-1 1.000 - - - no_errors CIT HGNC ENSG00000122966 25 0 0 19 6 24 TMEM132D 0 genome.wustl.edu 37 12 129822189 129822189 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 12 129822189 129822189 G A SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1289 p.P430L 0.856 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 126 0 0 88 6 6.38298 WNT10B 0 genome.wustl.edu 37 12 49364277 49364277 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 12 49364277 49364277 C T SNP WNT10B ENST00000301061 human ensembl 74_37 -1 known silent c.36 p.S12 0.998 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt10 - no_errors WNT10B HGNC ENSG00000169884 19 0 0 11 3 21.4286 TPH2 0 genome.wustl.edu 37 12 72366481 72366481 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 12 72366481 72366481 C T SNP TPH2 ENST00000333850 human ensembl 74_37 +1 known missense c.791 p.S264F 0.997 pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Trp_5_mOase pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Trp_5_mOase - no_errors TPH2 HGNC ENSG00000139287 137 0 0 156 11 6.58683 FREM2 0 genome.wustl.edu 37 13 39262163 39262163 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 13 39262163 39262163 C A SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.682 p.P228T 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 22 0 0 20 4 16.6667 RALGAPA1 0 genome.wustl.edu 37 14 36096891 36096891 + Missense_Mutation SNP C C G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 14 36096891 36096891 C G SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.4885 p.G1629R 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 12 0 0 8 5 38.4615 LRR1 0 genome.wustl.edu 37 14 50065787 50065787 + Missense_Mutation SNP T T G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 14 50065787 50065787 T G SNP LRR1 ENST00000298288 human ensembl 74_37 +1 known missense c.49 p.L17V 0.034 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRR1 HGNC ENSG00000165501 9 0 0 10 3 23.0769 DCAF4 0 genome.wustl.edu 37 14 73425480 73425480 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 14 73425480 73425480 C T SNP DCAF4 ENST00000358377 human ensembl 74_37 +1 known silent c.1455 p.V485 0.871 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF4 HGNC ENSG00000119599 62 0 0 54 9 14.2857 ABCD4 0 genome.wustl.edu 37 14 74757026 74757026 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 14 74757026 74757026 C T SNP ABCD4 ENST00000356924 human ensembl 74_37 -1 known missense c.1295 p.R432Q 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCD4 HGNC ENSG00000119688 83 0 0 64 10 13.5135 NEK9 0 genome.wustl.edu 37 14 75573236 75573236 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 14 75573236 75573236 C T SNP NEK9 ENST00000238616 human ensembl 74_37 -1 known silent c.1497 p.K499 0.991 superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Prot_kinase_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_RCC1/BLIP-II,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK9 HGNC ENSG00000119638 67 0 0 63 4 5.97015 UNC79 0 genome.wustl.edu 37 14 94088869 94088869 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 14 94088869 94088869 C T SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.5356 p.H1786Y 0.111 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 55 0 0 57 4 6.55738 TJP1 0 genome.wustl.edu 37 15 30011254 30011254 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 15 30011254 30011254 G T SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.3092 p.P1031Q 0.992 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 91 0 0 61 24 28.2353 ARHGAP11B 0 genome.wustl.edu 37 15 30938483 30938483 + RNA SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 15 30938483 30938483 T C SNP ARHGAP11B ENST00000566548 human ensembl 74_37 +1 known rna NULL NULL 0.713 - - - no_errors ARHGAP11B HGNC ENSG00000187951 12 0 0 8 3 27.2727 DUOX1 0 genome.wustl.edu 37 15 45433197 45433197 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 15 45433197 45433197 C T SNP DUOX1 ENST00000561220 human ensembl 74_37 +1 known missense c.1321 p.H441Y 0.095 pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors DUOX1 HGNC ENSG00000137857 85 0 0 58 5 7.93651 ZNF768 0 genome.wustl.edu 37 16 30536468 30536468 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 16 30536468 30536468 G A SNP ZNF768 ENST00000380412 human ensembl 74_37 -1 known silent c.993 p.Y331 0.995 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_RNA_pol_II_repeat_euk,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF768 HGNC ENSG00000169957 48 0 0 37 3 7.5 SALL1 0 genome.wustl.edu 37 16 51173642 51173642 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 16 51173642 51173642 C T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.2491 p.D831N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 76 0 0 79 9 10.2273 POLR2C 0 genome.wustl.edu 37 16 57503205 57503205 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 16 57503205 57503205 G A SNP POLR2C ENST00000219252 human ensembl 74_37 +1 known silent c.387 p.P129 1.000 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 pfam_DNA-dir_RNA_pol_insert,pfam_RBP11-like_dimer,superfamily_DNA-dir_RNA_pol_insert,superfamily_RBP11-like_dimer,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3 - no_errors POLR2C HGNC ENSG00000102978 27 0 0 18 6 25 PDP2 0 genome.wustl.edu 37 16 66919712 66919712 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 16 66919712 66919712 G A SNP PDP2 ENST00000311765 human ensembl 74_37 +1 known missense c.1525 p.D509N 1.000 superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PDP2 HGNC ENSG00000172840 33 0 0 25 3 10.7143 CDH1 0 genome.wustl.edu 37 16 68862157 68862157 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 16 68862157 68862157 C T SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.2245 p.R749W 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 53 0 0 49 11 18.3333 MYH8 0 genome.wustl.edu 37 17 10300223 10300223 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 10300223 10300223 G A SNP MYH8 ENST00000403437 human ensembl 74_37 -1 known missense c.4259 p.T1420M 1.000 pfam_Myosin_tail,superfamily_Prefoldin 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 22 0 0 28 9 24.3243 MYH2 0 genome.wustl.edu 37 17 10427134 10427134 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 10427134 10427134 T C SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.5243 p.E1748G 1.000 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 50 0 0 41 10 19.6078 MYOCD 0 genome.wustl.edu 37 17 12656558 12656558 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 12656558 12656558 G T SNP MYOCD ENST00000425538 human ensembl 74_37 +1 known missense c.1953 p.L651F 1.000 NULL pfam_RPEL_repeat,pfam_SAP_dom,smart_RPEL_repeat,smart_SAP_dom,pfscan_RPEL_repeat,pfscan_SAP_dom - no_errors MYOCD HGNC ENSG00000141052 61 0 0 40 8 16.6667 EPN2 0 genome.wustl.edu 37 17 19235245 19235245 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 19235245 19235245 C T SNP EPN2 ENST00000314728 human ensembl 74_37 +1 known silent c.1491 p.V497 0.000 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 101 0 0 78 9 10.3448 ACACA 0 genome.wustl.edu 37 17 35545362 35545362 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 35545362 35545362 C T SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.4631 p.R1544H 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,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 36 0 0 26 4 13.3333 ZNF594 0 genome.wustl.edu 37 17 5085395 5085395 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 5085395 5085395 C T SNP ZNF594 ENST00000399604 human ensembl 74_37 -1 known nonsense c.2157 p.W719* 0.009 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF594 HGNC ENSG00000180626 68 0 0 73 8 9.87654 SLC39A11 0 genome.wustl.edu 37 17 70943979 70943979 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 70943979 70943979 C T SNP SLC39A11 ENST00000542342 human ensembl 74_37 -1 known silent c.342 p.L114 0.950 pfam_ZIP pfam_ZIP - no_errors SLC39A11 HGNC ENSG00000133195 55 0 0 57 7 10.9375 USH1G 0 genome.wustl.edu 37 17 72916569 72916569 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 72916569 72916569 G A SNP USH1G ENST00000319642 human ensembl 74_37 -1 known missense c.362 p.A121V 1.000 smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors USH1G HGNC ENSG00000182040 52 0 0 39 5 11.3636 EXOC7 0 genome.wustl.edu 37 17 74087260 74087260 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 74087260 74087260 C T SNP EXOC7 ENST00000335146 human ensembl 74_37 -1 known missense c.865 p.G289R 1.000 superfamily_Cullin_repeat-like_dom pfam_Exo70,superfamily_Cullin_repeat-like_dom - no_errors EXOC7 HGNC ENSG00000182473 111 0 0 95 6 5.94059 ENPP7 0 genome.wustl.edu 37 17 77709072 77709072 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 17 77709072 77709072 G A SNP ENPP7 ENST00000328313 human ensembl 74_37 +1 known silent c.630 p.P210 0.000 pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Metalloenzyme,superfamily_Alkaline_phosphatase_core - no_errors ENPP7 HGNC ENSG00000182156 47 0 0 26 4 13.3333 DNM2 0 genome.wustl.edu 37 19 10906869 10906869 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 10906869 10906869 C T SNP DNM2 ENST00000355667 human ensembl 74_37 +1 known silent c.1329 p.T443 1.000 pfam_Dynamin_central 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 83 0 0 55 4 6.77966 KIRREL2 0 genome.wustl.edu 37 19 36351817 36351817 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 36351817 36351817 C T SNP KIRREL2 ENST00000360202 human ensembl 74_37 +1 known missense c.935 p.P312L 0.995 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 34 0 0 21 3 12.5 ZNF420 0 genome.wustl.edu 37 19 37619007 37619007 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 37619007 37619007 T C SNP ZNF420 ENST00000337995 human ensembl 74_37 +1 known missense c.1114 p.F372L 0.998 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 ZNF420 HGNC ENSG00000197050 49 0 0 40 6 13.0435 IFNL3 0 genome.wustl.edu 37 19 39734787 39734787 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 39734787 39734787 C T SNP IFNL3 ENST00000413851 human ensembl 74_37 -1 known missense c.269 p.R90H 0.669 NULL NULL - no_errors IFNL3 HGNC ENSG00000197110 42 0 0 32 4 11.1111 ZNF780A 0 genome.wustl.edu 37 19 40589025 40589025 + Silent SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 40589025 40589025 G T SNP ZNF780A ENST00000455521 human ensembl 74_37 -1 known silent c.129 p.I43 0.081 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 ZNF780A HGNC ENSG00000197782 60 0 0 62 6 8.82353 ARHGEF1 0 genome.wustl.edu 37 19 42396407 42396407 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 42396407 42396407 C T SNP ARHGEF1 ENST00000337665 human ensembl 74_37 +1 known silent c.375 p.L125 0.742 pfam_RGS-like_dom,superfamily_Regulat_G_prot_signal_superfam pfam_RGS-like_dom,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 108 0 0 82 8 8.88889 PNMAL1 0 genome.wustl.edu 37 19 46973369 46973369 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 46973369 46973369 C T SNP PNMAL1 ENST00000313683 human ensembl 74_37 -1 known silent c.924 p.A308 0.000 NULL NULL - no_errors PNMAL1 HGNC ENSG00000182013 113 0 0 86 9 9.47368 PIH1D1 0 genome.wustl.edu 37 19 49954783 49954783 + Missense_Mutation SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 49954783 49954783 T C SNP PIH1D1 ENST00000262265 human ensembl 74_37 -1 known missense c.49 p.I17V 0.036 NULL pfam_PIH - no_errors PIH1D1 HGNC ENSG00000104872 113 0 0 66 11 14.2857 PTOV1 0 genome.wustl.edu 37 19 50358107 50358107 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 50358107 50358107 C T SNP PTOV1 ENST00000391842 human ensembl 74_37 +1 known nonsense c.412 p.Q138* 0.996 pfam_Mediator_Med25 pfam_Mediator_Med25 - no_errors PTOV1 HGNC ENSG00000104960 27 0 0 34 3 8.10811 KIR2DL4 0 genome.wustl.edu 37 19 55325193 55325193 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 55325193 55325193 G T SNP KIR2DL4 ENST00000396284 human ensembl 74_37 +1 known missense c.920 p.R307M 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 59 0 0 48 5 9.43396 HSPBP1 0 genome.wustl.edu 37 19 55790947 55790947 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 55790947 55790947 G A SNP HSPBP1 ENST00000255631 human ensembl 74_37 -1 known silent c.30 p.R10 0.999 NULL superfamily_ARM-type_fold - no_errors HSPBP1 HGNC ENSG00000133265 8 0 0 2 3 60 ZNF549 0 genome.wustl.edu 37 19 58049391 58049391 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 58049391 58049391 C T SNP ZNF549 ENST00000376233 human ensembl 74_37 +1 known missense c.1019 p.S340L 0.010 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 ZNF549 HGNC ENSG00000121406 47 0 0 36 7 16.2791 EVI5L 0 genome.wustl.edu 37 19 7911558 7911558 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 7911558 7911558 C A SNP EVI5L ENST00000538904 human ensembl 74_37 +1 known missense c.130 p.Q44K 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 EVI5L HGNC ENSG00000142459 30 0 0 10 3 23.0769 PRAM1 0 genome.wustl.edu 37 19 8555622 8555622 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 19 8555622 8555622 C T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.1762 p.V588I 0.999 superfamily_SH3_domain superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 23 0 0 16 3 15.7895 NPAS2 0 genome.wustl.edu 37 2 101606898 101606898 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 101606898 101606898 C T SNP NPAS2 ENST00000542504 human ensembl 74_37 +1 known missense c.2203 p.R735W 0.903 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_bHLH_dom,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors NPAS2 HGNC ENSG00000170485 39 0 0 36 4 10 GALNT13 0 genome.wustl.edu 37 2 155099285 155099285 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 155099285 155099285 C T SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known missense c.553 p.R185C 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT13 HGNC ENSG00000144278 17 0 0 12 3 20 TTN 0 genome.wustl.edu 37 2 179585229 179585229 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 179585229 179585229 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.19528 p.H6510N 0.999 pfam_Ig_I-set,pfam_Ig_V-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 17 0 0 19 5 20.8333 PIKFYVE 0 genome.wustl.edu 37 2 209190439 209190439 + Silent SNP T T A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 209190439 209190439 T A SNP PIKFYVE ENST00000264380 human ensembl 74_37 +1 known silent c.2904 p.P968 0.203 NULL pfam_PInositol-4-P-5-kinase_core,pfam_Cpn60/TCP-1,pfam_DEP_dom,pfam_Znf_FYVE,superfamily_GroEL-like_apical_dom,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,smart_DEP_dom,smart_PInositol-4P-5-kinase_core_sub,pfscan_DEP_dom,pfscan_Znf_FYVE-rel - no_errors PIKFYVE HGNC ENSG00000115020 50 0 0 30 4 11.7647 UGT1A1 0 genome.wustl.edu 37 2 234526744 234526744 + Nonsense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 234526744 234526744 C T SNP UGT1A1 ENST00000373450 human ensembl 74_37 +1 known nonsense c.391 p.R131* 0.000 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A1 HGNC ENSG00000241635 72 0 0 46 3 6.12245 TTC31 0 genome.wustl.edu 37 2 74719180 74719180 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 74719180 74719180 C A SNP TTC31 ENST00000233623 human ensembl 74_37 +1 novel missense c.926 p.A309E 1.000 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC31 HGNC ENSG00000115282 34 0 0 19 4 17.3913 ATOH8 0 genome.wustl.edu 37 2 85981537 85981537 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 85981537 85981537 G A SNP ATOH8 ENST00000306279 human ensembl 74_37 +1 known silent c.225 p.P75 0.779 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors ATOH8 HGNC ENSG00000168874 25 0 0 11 4 26.6667 LYG2 0 genome.wustl.edu 37 2 99861777 99861777 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 99861777 99861777 G T SNP LYG2 ENST00000333017 human ensembl 74_37 -1 known missense c.329 p.S110Y 0.001 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 40 0 0 37 5 11.9048 VPS16 0 genome.wustl.edu 37 20 2843363 2843363 + Missense_Mutation SNP C C G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 20 2843363 2843363 C G SNP VPS16 ENST00000380443 human ensembl 74_37 +1 known missense c.172 p.L58V 1.000 NULL pfam_Vps16_C,pfam_Vps16_N - no_errors VPS16 HGNC ENSG00000215305 27 0 0 25 3 10.7143 NCOA6 0 genome.wustl.edu 37 20 33329879 33329879 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 20 33329879 33329879 C T SNP NCOA6 ENST00000359003 human ensembl 74_37 -1 known missense c.4181 p.S1394N 0.139 NULL NULL - no_errors NCOA6 HGNC ENSG00000198646 49 0 0 37 10 21.2766 SLC52A3 0 genome.wustl.edu 37 20 741724 741724 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 20 741724 741724 G A SNP SLC52A3 ENST00000217254 human ensembl 74_37 -1 known silent c.1356 p.N452 1.000 NULL pfam_Endogenous_retrovirus_rcpt - no_errors SLC52A3 HGNC ENSG00000101276 12 0 0 11 5 31.25 GRIK1 0 genome.wustl.edu 37 21 31062113 31062113 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 21 31062113 31062113 G T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.479 p.A160E 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 GRIK1 HGNC ENSG00000171189 97 0 0 74 8 9.7561 KRTAP19-1 0 genome.wustl.edu 37 21 31852625 31852625 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 21 31852625 31852625 G A SNP KRTAP19-1 ENST00000390689 human ensembl 74_37 -1 known silent c.12 p.Y4 0.397 pfam_KRTAP_type6/8/16/19/20 pfam_KRTAP_type6/8/16/19/20 - no_errors KRTAP19-1 HGNC ENSG00000184351 113 0 0 69 16 18.8235 OR11H1 0 genome.wustl.edu 37 22 16449536 16449536 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 22 16449536 16449536 G A SNP OR11H1 ENST00000252835 human ensembl 74_37 -1 known missense c.269 p.S90F 0.146 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H1 HGNC ENSG00000130538 25 0 0 17 4 19.0476 YPEL1 0 genome.wustl.edu 37 22 22057675 22057675 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 22 22057675 22057675 G A SNP YPEL1 ENST00000339468 human ensembl 74_37 -1 known missense c.254 p.T85M 1.000 pfam_Yippee/Mis18 pfam_Yippee/Mis18 - no_errors YPEL1 HGNC ENSG00000100027 56 0 0 46 11 19.2982 EP300 0 genome.wustl.edu 37 22 41572973 41572973 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 22 41572973 41572973 G T SNP EP300 ENST00000263253 human ensembl 74_37 +1 known missense c.5258 p.C1753F 1.000 pfam_Znf_TAZ,superfamily_Znf_TAZ,smart_Znf_TAZ,pfscan_Znf_TAZ pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors EP300 HGNC ENSG00000100393 33 0 0 29 3 9.375 CERK 0 genome.wustl.edu 37 22 47091193 47091193 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 22 47091193 47091193 G A SNP CERK ENST00000216264 human ensembl 74_37 -1 known silent c.963 p.S321 0.136 NULL pfam_Diacylglycerol_kinase_cat_dom,superfamily_ATP-NAD_kinase_PpnK-typ,smart_Diacylglycerol_kinase_cat_dom - no_errors CERK HGNC ENSG00000100422 33 0 0 22 3 12 TYMP 0 genome.wustl.edu 37 22 50967595 50967595 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 22 50967595 50967595 G A SNP TYMP ENST00000252029 human ensembl 74_37 -1 known silent c.387 p.L129 0.998 pfam_Glycosyl_Trfase_fam3,superfamily_Glycosyl_Trfase_fam3,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk pfam_Glycosyl_Trfase_fam3,pfam_Glycosyl_Trfase_fam3_N_dom,pfam_PYNP_C,superfamily_Glycosyl_Trfase_fam3,superfamily_PYNP_C,superfamily_Glycosyl_Trfase_fam3_N_dom,smart_PYNP_C,pirsf_Pyrmidine_PPase,tigrfam_Pyrmidine_PPas_bac/euk - no_errors TYMP HGNC ENSG00000025708 60 0 0 31 5 13.8889 ACAD9 0 genome.wustl.edu 37 3 128598625 128598625 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 128598625 128598625 C T SNP ACAD9 ENST00000308982 human ensembl 74_37 +1 known missense c.91 p.R31C 0.956 NULL 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 ACAD9 HGNC ENSG00000177646 49 0 0 38 15 28.3019 PCCB 0 genome.wustl.edu 37 3 136035904 136035904 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 136035904 136035904 C T SNP PCCB ENST00000251654 human ensembl 74_37 +1 known missense c.1088 p.S363L 1.000 pfam_Carboxyl_trans,pfscan_COA_CT_C pfam_Carboxyl_trans,pfscan_COA_CT_N,pfscan_COA_CT_C - no_errors PCCB HGNC ENSG00000114054 51 0 0 57 4 6.55738 WNT7A 0 genome.wustl.edu 37 3 13860757 13860757 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 13860757 13860757 C T SNP WNT7A ENST00000285018 human ensembl 74_37 -1 known missense c.734 p.R245H 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7A HGNC ENSG00000154764 68 0 0 47 4 7.84314 ATR 0 genome.wustl.edu 37 3 142275392 142275392 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 142275392 142275392 C T SNP ATR ENST00000350721 human ensembl 74_37 -1 known silent c.1911 p.V637 0.997 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PIK-rel_kinase_FAT,pfam_UME,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_UME,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_HEAT_type_2,pfscan_PI3/4_kinase_cat_dom - no_errors ATR HGNC ENSG00000175054 37 0 0 25 11 30.5556 PIK3CA 0 genome.wustl.edu 37 3 178916876 178916876 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 178916876 178916876 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.263 p.R88Q 1.000 pfam_PI3K_adapt-bd_dom,smart_PI3K_adapt-bd_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 51 0 0 31 18 36.7347 PIK3CA 0 genome.wustl.edu 37 3 178936082 178936082 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 178936082 178936082 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1624 p.E542K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 22 0 0 17 2 10.5263 KCNH8 0 genome.wustl.edu 37 3 19295169 19295169 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 19295169 19295169 G T SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.100 p.A34S 1.000 superfamily_PAS pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 81 0 0 48 5 9.43396 KCNH8 0 genome.wustl.edu 37 3 19498312 19498312 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 19498312 19498312 G A SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known silent c.1878 p.K626 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 37 0 0 28 2 6.66667 EBLN2 0 genome.wustl.edu 37 3 73111500 73111500 + Missense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 3 73111500 73111500 G T SNP EBLN2 ENST00000533473 human ensembl 74_37 +1 known missense c.268 p.A90S 0.002 pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir pfam_P40_nucleoprot_BD-vir,superfamily_P40_nucleoprot_BD-vir - no_errors EBLN2 HGNC ENSG00000255423 8 0 0 4 4 50 FAT4 0 genome.wustl.edu 37 4 126411905 126411905 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 4 126411905 126411905 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13928 p.R4643H 1.000 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 29 0 0 24 3 11.1111 POU4F2 0 genome.wustl.edu 37 4 147561227 147561227 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 4 147561227 147561227 C T SNP POU4F2 ENST00000281321 human ensembl 74_37 +1 known missense c.497 p.A166V 0.997 NULL pfam_POU_specific,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_POU_specific,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_POU_specific,prints_POU - no_errors POU4F2 HGNC ENSG00000151615 20 0 0 15 4 21.0526 PCDH7 0 genome.wustl.edu 37 4 30724035 30724035 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 4 30724035 30724035 C T SNP PCDH7 ENST00000543491 human ensembl 74_37 +1 known missense c.991 p.R331C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH7 HGNC ENSG00000169851 35 0 0 25 3 10.7143 RGS12 0 genome.wustl.edu 37 4 3430429 3430429 + Nonsense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 4 3430429 3430429 G T SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known nonsense c.3556 p.E1186* 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 19 0 0 21 2 8.69565 CTNND2 0 genome.wustl.edu 37 5 11111072 11111072 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 5 11111072 11111072 C T SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.2361 p.T787 0.032 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 92 0 0 76 10 11.6279 DMXL1 0 genome.wustl.edu 37 5 118470009 118470009 + Silent SNP A A G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 5 118470009 118470009 A G SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.2301 p.G767 1.000 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 57 0 0 40 6 13.0435 HIVEP2 0 genome.wustl.edu 37 6 143074616 143074616 + Silent SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 6 143074616 143074616 C T SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known silent c.6969 p.E2323 1.000 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 35 0 0 25 5 16.6667 PLEKHG1 0 genome.wustl.edu 37 6 151130381 151130381 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 6 151130381 151130381 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known silent c.1053 p.T351 0.002 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 65 0 0 51 8 13.5593 HLA-J 0 genome.wustl.edu 37 6 29976041 29976041 + RNA SNP T T C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 6 29976041 29976041 T C SNP HLA-J ENST00000462773 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HLA-J HGNC ENSG00000204622 49 0 0 42 3 6.66667 CLIC1 0 genome.wustl.edu 37 6 31698669 31698669 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 6 31698669 31698669 C T SNP CLIC1 ENST00000375779 human ensembl 74_37 -1 known missense c.676 p.D226N 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC1 HGNC ENSG00000213719 32 0 0 28 2 6.66667 NOTCH4 0 genome.wustl.edu 37 6 32163554 32163554 + Missense_Mutation SNP C C G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 6 32163554 32163554 C G SNP NOTCH4 ENST00000375023 human ensembl 74_37 -1 known missense c.5672 p.G1891A 0.034 pirsf_Notch 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 12 0 0 14 6 30 TULP1 0 genome.wustl.edu 37 6 35477060 35477060 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 6 35477060 35477060 C T SNP TULP1 ENST00000229771 human ensembl 74_37 -1 known missense c.748 p.E250K 0.986 NULL pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C - no_errors TULP1 HGNC ENSG00000112041 154 0 0 145 8 5.22876 GPR63 0 genome.wustl.edu 37 6 97246870 97246870 + Silent SNP A A G TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 6 97246870 97246870 A G SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known silent c.738 p.I246 0.971 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 GPR63 HGNC ENSG00000112218 49 0 0 56 4 6.66667 AGFG2 0 genome.wustl.edu 37 7 100159886 100159886 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 100159886 100159886 C A SNP AGFG2 ENST00000300176 human ensembl 74_37 +1 known missense c.882 p.S294R 1.000 NULL pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP - no_errors AGFG2 HGNC ENSG00000106351 58 0 0 46 12 20.6897 CBLL1 0 genome.wustl.edu 37 7 107399357 107399357 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 107399357 107399357 C T SNP CBLL1 ENST00000440859 human ensembl 74_37 +1 known missense c.1210 p.P404S 1.000 NULL pfscan_Znf_RING - no_errors CBLL1 HGNC ENSG00000105879 120 0 0 98 6 5.76923 LRRN3 0 genome.wustl.edu 37 7 110763825 110763825 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 110763825 110763825 C A SNP LRRN3 ENST00000308478 human ensembl 74_37 +1 known missense c.997 p.L333I 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRRN3 HGNC ENSG00000173114 28 0 0 37 4 9.7561 PPP1R3A 0 genome.wustl.edu 37 7 113519400 113519400 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 113519400 113519400 G A SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.1747 p.H583Y 0.001 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 40 0 0 43 6 12.2449 FOXP2 0 genome.wustl.edu 37 7 114299684 114299684 + Missense_Mutation SNP A A C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 114299684 114299684 A C SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known missense c.1678 p.T560P 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 46 0 0 36 3 7.69231 OR2A14 0 genome.wustl.edu 37 7 143826573 143826573 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 143826573 143826573 C T SNP OR2A14 ENST00000408899 human ensembl 74_37 +1 known missense c.368 p.A123V 0.983 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 OR2A14 HGNC ENSG00000221938 77 0 0 67 7 9.45946 OR2A1 0 genome.wustl.edu 37 7 144015510 144015510 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 144015510 144015510 C T SNP OR2A1 ENST00000408951 human ensembl 74_37 +1 known missense c.293 p.T98M 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A1 HGNC ENSG00000221970 189 0 0 186 16 7.92079 INTS4L1 0 genome.wustl.edu 37 7 64639752 64639752 + RNA SNP A A T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 64639752 64639752 A T SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors INTS4L1 HGNC ENSG00000164669 15 0 0 9 4 30.7692 INTS4L1 0 genome.wustl.edu 37 7 64661070 64661070 + RNA SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 64661070 64661070 G A SNP INTS4L1 ENST00000587624 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors INTS4L1 HGNC ENSG00000164669 8 0 0 12 4 25 GNG11 0 genome.wustl.edu 37 7 93555472 93555472 + Nonsense_Mutation SNP G G T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 93555472 93555472 G T SNP GNG11 ENST00000248564 human ensembl 74_37 +1 known nonsense c.166 p.G56* 1.000 pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma - no_errors GNG11 HGNC ENSG00000127920 43 0 0 26 12 31.5789 FAM135B 0 genome.wustl.edu 37 8 139164616 139164616 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 8 139164616 139164616 C T SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.2102 p.R701Q 0.863 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 30 0 0 30 5 14.2857 TSNARE1 0 genome.wustl.edu 37 8 143425589 143425589 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 8 143425589 143425589 G A SNP TSNARE1 ENST00000307180 human ensembl 74_37 -1 known silent c.483 p.Y161 0.176 NULL pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors TSNARE1 HGNC ENSG00000171045 50 0 0 38 5 11.6279 BRINP1 0 genome.wustl.edu 37 9 122011382 122011382 + Missense_Mutation SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 9 122011382 122011382 C T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.265 p.D89N 1.000 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 29 0 0 24 3 11.1111 SMARCA2 0 genome.wustl.edu 37 9 2039788 2039788 + Silent SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 9 2039788 2039788 G A SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known silent c.678 p.Q226 0.993 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 9 0 0 10 4 28.5714 H2BFWT 0 genome.wustl.edu 37 X 103267818 103267818 + Missense_Mutation SNP G G A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 X 103267818 103267818 G A SNP H2BFWT ENST00000217926 human ensembl 74_37 -1 known missense c.415 p.R139W 1.000 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors H2BFWT HGNC ENSG00000123569 21 0 0 12 7 36.8421 IL1RAPL2 0 genome.wustl.edu 37 X 105011214 105011214 + Missense_Mutation SNP A A T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 X 105011214 105011214 A T SNP IL1RAPL2 ENST00000344799 human ensembl 74_37 +1 known missense c.1621 p.S541C 1.000 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ - no_errors IL1RAPL2 HGNC ENSG00000189108 37 0 0 33 17 34 COL4A5 0 genome.wustl.edu 37 X 107829938 107829938 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 X 107829938 107829938 C A SNP COL4A5 ENST00000328300 human ensembl 74_37 +1 known missense c.1126 p.P376T 1.000 NULL pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A5 HGNC ENSG00000188153 19 0 0 26 6 18.75 DCAF12L2 0 genome.wustl.edu 37 X 125298874 125298874 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 X 125298874 125298874 C A SNP DCAF12L2 ENST00000360028 human ensembl 74_37 -1 known missense c.1034 p.C345F 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 33 0 0 37 6 13.9535 MAGEC3 0 genome.wustl.edu 37 X 140984423 140984423 + RNA SNP C C T TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 X 140984423 140984423 C T SNP MAGEC3 ENST00000483584 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MAGEC3 HGNC ENSG00000165509 46 0 0 31 9 22.5 MAGEA12 0 genome.wustl.edu 37 X 151900231 151900231 + Silent SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 X 151900231 151900231 C A SNP MAGEA12 ENST00000357916 human ensembl 74_37 -1 known silent c.570 p.L190 0.002 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 63 0 0 43 9 17.3077 FIGF 0 genome.wustl.edu 37 X 15381403 15381403 + Missense_Mutation SNP C C A TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 X 15381403 15381403 C A SNP FIGF ENST00000297904 human ensembl 74_37 -1 known missense c.129 p.Q43H 1.000 NULL pfam_PDGF/VEGF_dom,smart_PDGF/VEGF_dom,pfscan_PDGF/VEGF_dom - no_errors FIGF HGNC ENSG00000165197 24 0 0 27 3 10 SRRM1 0 genome.wustl.edu 37 1 24981344 24981346 + Splice_Site DEL AGA AGA - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 24981344 24981346 AGA - DEL SRRM1 ENST00000447431 human ensembl 74_37 +1 known splice_site_del c.1041-2_1041-1 e9-1 1.000:1.000:1.000 - - - no_errors SRRM1 HGNC ENSG00000133226 63 0 0 59 10 14.4928 ARID1A 0 genome.wustl.edu 37 1 27089494 27089494 + Frame_Shift_Del DEL C C - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 1 27089494 27089494 C - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.2450 p.L818fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 49 0 0 17 7 29.1667 C2orf48 0 genome.wustl.edu 37 2 10350536 10350537 + Frame_Shift_Del DEL AG AG - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 2 10350536 10350537 AG - DEL C2orf48 ENST00000381786 human ensembl 74_37 +1 known frame_shift_del c.293_294 p.P100fs 0.001:0.001 NULL NULL - no_errors C2orf48 HGNC ENSG00000163009 33 0 0 32 3 8.57143 AMPH 0 genome.wustl.edu 37 7 38433753 38433754 + Frame_Shift_Ins INS - - C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 7 38433753 38433754 - C INS AMPH ENST00000356264 human ensembl 74_37 -1 known frame_shift_ins c.1460_1459 p.A487fs 0.002:0.000 NULL pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain - no_errors AMPH HGNC ENSG00000078053 98 0 0 64 5 7.24638 CPQ 0 genome.wustl.edu 37 8 97797118 97797118 + RNA DEL A A - TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 8 97797118 97797118 A - DEL CPQ ENST00000525310 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors CPQ HGNC ENSG00000104324 28 0 0 27 3 10 POLE3 0 genome.wustl.edu 37 9 116172488 116172489 + RNA INS - - C TCGA-BR-8686-01A-11D-2394-08 TCGA-BR-8686-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9e2f3833-01ad-4c0e-bbbd-4453b29317dc 14ec5473-f321-4a3a-a230-0293047438b0 9 116172488 116172489 - C INS POLE3 ENST00000475080 human ensembl 74_37 -1 known rna NULL NULL 0.996:0.127 - - - no_errors POLE3 HGNC ENSG00000148229 12 0 0 15 2 11.7647