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 AMPD1 0 genome.wustl.edu 37 1 115218607 115218607 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 115218607 115218607 T G SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1505 p.K502T 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 136 0 0 92 10 9.80392 ETV3L 0 genome.wustl.edu 37 1 157069034 157069034 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 157069034 157069034 G A SNP ETV3L ENST00000454449 human ensembl 74_37 -1 known silent c.195 p.Y65 0.983 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV3L HGNC ENSG00000253831 62 0 0 65 6 8.4507 CRP 0 genome.wustl.edu 37 1 159683371 159683371 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 159683371 159683371 C T SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.619 p.A207T 0.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 127 0 0 112 13 10.4 CRP 0 genome.wustl.edu 37 1 159683427 159683427 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 159683427 159683427 T C SNP CRP ENST00000255030 human ensembl 74_37 -1 known missense c.563 p.E188G 0.819 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors CRP HGNC ENSG00000132693 218 0 0 182 15 7.61421 VANGL2 0 genome.wustl.edu 37 1 160385857 160385857 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 160385857 160385857 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.77 p.R26H 1.000 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 61 0 0 46 5 9.80392 CELA3A 0 genome.wustl.edu 37 1 22336254 22336254 + Silent SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 22336254 22336254 C T SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known silent c.699 p.H233 0.710 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 72 0 0 57 4 6.55738 CELA3A 0 genome.wustl.edu 37 1 22336257 22336257 + Silent SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 22336257 22336257 T C SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known silent c.702 p.G234 0.259 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 73 0 0 57 5 8.06452 GREM2 0 genome.wustl.edu 37 1 240656388 240656388 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 240656388 240656388 A C SNP GREM2 ENST00000318160 human ensembl 74_37 -1 known missense c.388 p.S130A 0.994 pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C pfam_DAN,pfam_Cys_knot,smart_Cys_knot_C,pirsf_Gremlin_precursor,pfscan_Cys_knot_C - no_errors GREM2 HGNC ENSG00000180875 96 0 0 107 6 5.30973 OR2M2 0 genome.wustl.edu 37 1 248344005 248344005 + Missense_Mutation SNP A A T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 248344005 248344005 A T SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.718 p.T240S 0.914 pfam_GPCR_Rhodpsn,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 OR2M2 HGNC ENSG00000198601 329 1 0.30303 258 22 7.85714 OR2M4 0 genome.wustl.edu 37 1 248402877 248402877 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 248402877 248402877 T G SNP OR2M4 ENST00000306687 human ensembl 74_37 +1 known missense c.647 p.L216R 0.003 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 OR2M4 HGNC ENSG00000171180 84 0 0 78 8 9.30233 CCDC27 0 genome.wustl.edu 37 1 3679856 3679856 + Missense_Mutation SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 3679856 3679856 G T SNP CCDC27 ENST00000294600 human ensembl 74_37 +1 known missense c.1139 p.R380M 0.000 NULL superfamily_Prefoldin - no_errors CCDC27 HGNC ENSG00000162592 26 0 0 14 4 22.2222 CDC20 0 genome.wustl.edu 37 1 43826741 43826741 + RNA SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 43826741 43826741 G T SNP CDC20 ENST00000482046 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CDC20 HGNC ENSG00000117399 75 0 0 52 8 13.3333 ANKRD13C 0 genome.wustl.edu 37 1 70790597 70790597 + Silent SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 70790597 70790597 C T SNP ANKRD13C ENST00000370944 human ensembl 74_37 -1 known silent c.516 p.V172 1.000 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD13C HGNC ENSG00000118454 90 0 0 62 4 6.06061 TTC40 0 genome.wustl.edu 37 10 134622112 134622112 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 134622112 134622112 G A SNP TTC40 ENST00000263170 human ensembl 74_37 -1 known missense c.2444 p.A815V 0.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 34 0 0 21 4 16 CACNB2 0 genome.wustl.edu 37 10 18828261 18828261 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 18828261 18828261 C T SNP CACNB2 ENST00000324631 human ensembl 74_37 +1 known missense c.1591 p.R531C 0.997 NULL pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b2su - no_errors CACNB2 HGNC ENSG00000165995 83 0 0 78 11 12.3596 MYO3A 0 genome.wustl.edu 37 10 26243904 26243904 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 26243904 26243904 A C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.270 p.K90N 0.008 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_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 188 0 0 133 20 13.0719 EPC1 0 genome.wustl.edu 37 10 32575665 32575665 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 32575665 32575665 T C SNP EPC1 ENST00000263062 human ensembl 74_37 -1 known missense c.1348 p.R450G 0.991 NULL pfam_Enhancer_polycomb_C,pfam_Enhancer_polycomb-like_N - no_errors EPC1 HGNC ENSG00000120616 51 0 0 41 3 6.81818 PCDH15 0 genome.wustl.edu 37 10 55583120 55583120 + Splice_Site SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 55583120 55583120 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known splice_site c.4368-2 e32-2 1.000 - - - no_errors PCDH15 HGNC ENSG00000150275 85 0 0 40 6 13.0435 PCDH15 0 genome.wustl.edu 37 10 55996686 55996686 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 55996686 55996686 T G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.882 p.E294D 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 136 0 0 102 8 7.27273 FAM208B 0 genome.wustl.edu 37 10 5769036 5769036 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 5769036 5769036 A G SNP FAM208B ENST00000328090 human ensembl 74_37 +1 known missense c.437 p.K146R 0.002 pfam_DUF3699 pfam_DUF3715,pfam_DUF3699 - no_errors FAM208B HGNC ENSG00000108021 134 0 0 118 7 5.6 KIAA1279 0 genome.wustl.edu 37 10 70765585 70765585 + Missense_Mutation SNP C C A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 70765585 70765585 C A SNP KIAA1279 ENST00000361983 human ensembl 74_37 +1 known missense c.703 p.L235I 1.000 NULL pfam_KBP - no_errors KIAA1279 HGNC ENSG00000198954 62 0 0 37 9 19.5652 IFIT1B 0 genome.wustl.edu 37 10 91143418 91143418 + Silent SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 91143418 91143418 T G SNP IFIT1B ENST00000371809 human ensembl 74_37 +1 known silent c.348 p.T116 0.069 smart_TPR_repeat smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 96 0 0 75 7 8.53659 YAP1 0 genome.wustl.edu 37 11 101985013 101985013 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 101985013 101985013 A G SNP YAP1 ENST00000282441 human ensembl 74_37 +1 known missense c.460 p.T154A 0.448 NULL pfam_WW_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors YAP1 HGNC ENSG00000137693 124 0 0 89 13 12.7451 ATF4P4 0 genome.wustl.edu 37 11 113661433 113661433 + RNA SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 113661433 113661433 A C SNP ATF4P4 ENST00000393544 human ensembl 74_37 +1 known rna NULL NULL 0.115 - - - no_errors ATF4P4 HGNC ENSG00000256167 194 0 0 154 25 13.9665 KMT2A 0 genome.wustl.edu 37 11 118375060 118375060 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 118375060 118375060 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.8444 p.P2815L 0.997 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 186 0 0 138 49 26.2032 OR52K1 0 genome.wustl.edu 37 11 4510347 4510347 + Missense_Mutation SNP T T A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 4510347 4510347 T A SNP OR52K1 ENST00000307632 human ensembl 74_37 +1 known missense c.217 p.L73M 0.036 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 OR52K1 HGNC ENSG00000196778 98 0 0 76 10 11.6279 OR51A7 0 genome.wustl.edu 37 11 4928970 4928970 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 4928970 4928970 T G SNP OR51A7 ENST00000359350 human ensembl 74_37 +1 known missense c.371 p.L124R 0.990 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR51A7 HGNC ENSG00000176895 156 0 0 107 11 9.32203 OR4C11 0 genome.wustl.edu 37 11 55371158 55371158 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 55371158 55371158 T G SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.692 p.K231T 0.005 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 65 0 0 44 6 12 OR4C11 0 genome.wustl.edu 37 11 55371231 55371231 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 55371231 55371231 T G SNP OR4C11 ENST00000302231 human ensembl 74_37 -1 known missense c.619 p.S207R 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C11 HGNC ENSG00000172188 60 0 0 37 9 19.5652 OR5M10 0 genome.wustl.edu 37 11 56344522 56344522 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 56344522 56344522 A C SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known missense c.676 p.F226V 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 98 0 0 103 7 6.36364 LRP5 0 genome.wustl.edu 37 11 68115710 68115710 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 68115710 68115710 G A SNP LRP5 ENST00000294304 human ensembl 74_37 +1 known missense c.487 p.G163R 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EG-like_dom,smart_LDrepeatLR_classA_rpt,prints_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP5 HGNC ENSG00000162337 105 0 0 82 16 16.3265 OR5P3 0 genome.wustl.edu 37 11 7847027 7847027 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 7847027 7847027 T C SNP OR5P3 ENST00000328375 human ensembl 74_37 -1 known missense c.493 p.R165G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5P3 HGNC ENSG00000182334 102 0 0 67 12 15.1899 TRIM49C 0 genome.wustl.edu 37 11 89774338 89774338 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 11 89774338 89774338 A C SNP TRIM49C ENST00000448984 human ensembl 74_37 +1 known missense c.979 p.S327R 0.001 superfamily_ConA-like_lec_gl_sf,prints_Butyrophylin,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_Lambda_DNA-bd_dom,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM49C HGNC ENSG00000204449 58 0 0 43 4 8.51064 STYK1 0 genome.wustl.edu 37 12 10775239 10775239 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 10775239 10775239 A G SNP STYK1 ENST00000075503 human ensembl 74_37 -1 known missense c.965 p.L322P 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors STYK1 HGNC ENSG00000060140 74 0 0 53 8 13.1148 OAS2 0 genome.wustl.edu 37 12 113442842 113442842 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 113442842 113442842 G A SNP OAS2 ENST00000342315 human ensembl 74_37 +1 known missense c.1283 p.R428Q 0.000 pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N - no_errors OAS2 HGNC ENSG00000111335 60 0 0 44 9 16.9811 DDX54 0 genome.wustl.edu 37 12 113603716 113603716 + Silent SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 113603716 113603716 A G SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known silent c.1536 p.A512 0.203 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 62 0 0 72 10 12.1951 PRB2 0 genome.wustl.edu 37 12 11546376 11546376 + Silent SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 11546376 11546376 A C SNP PRB2 ENST00000389362 human ensembl 74_37 -1 known silent c.636 p.P212 0.021 NULL NULL - no_errors PRB2 HGNC ENSG00000121335 270 1 0.369004 232 40 14.7059 ABCC9 0 genome.wustl.edu 37 12 22025613 22025613 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 22025613 22025613 A G SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.2144 p.L715P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 201 0 0 170 29 14.5729 LRRK2 0 genome.wustl.edu 37 12 40699659 40699659 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 40699659 40699659 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.3850 p.F1284V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 69 0 0 46 8 14.8148 KMT2D 0 genome.wustl.edu 37 12 49445717 49445717 + Silent SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 49445717 49445717 A C SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known silent c.1749 p.P583 0.905 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 115 0 0 91 8 8.08081 KRT6A 0 genome.wustl.edu 37 12 52886595 52886595 + Silent SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 52886595 52886595 G T SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known silent c.378 p.G126 1.000 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 66 0 0 32 7 17.9487 KRT73 0 genome.wustl.edu 37 12 53010025 53010025 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 53010025 53010025 G A SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.587 p.T196M 0.001 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 177 0 0 127 40 23.9521 KRT1 0 genome.wustl.edu 37 12 53072332 53072332 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 53072332 53072332 C T SNP KRT1 ENST00000252244 human ensembl 74_37 -1 known missense c.800 p.R267Q 0.851 pfam_IF,prints_Keratin_II pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT1 HGNC ENSG00000167768 114 0 0 87 15 14.7059 LRP1 0 genome.wustl.edu 37 12 57560825 57560825 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 57560825 57560825 G A SNP LRP1 ENST00000243077 human ensembl 74_37 +1 known silent c.2910 p.S970 0.058 pfam_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1 HGNC ENSG00000123384 122 0 0 60 16 21.0526 SLC26A10 0 genome.wustl.edu 37 12 58019453 58019453 + Silent SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 58019453 58019453 T G SNP SLC26A10 ENST00000320442 human ensembl 74_37 +1 known silent c.1617 p.A539 0.988 pfscan_STAS_dom pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom - no_errors SLC26A10 HGNC ENSG00000135502 89 0 0 61 13 17.5676 MARCH9 0 genome.wustl.edu 37 12 58152549 58152549 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 58152549 58152549 C T SNP MARCH9 ENST00000266643 human ensembl 74_37 +1 known missense c.910 p.R304C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 35 0 0 29 5 14.7059 KCNC2 0 genome.wustl.edu 37 12 75434899 75434899 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 75434899 75434899 A C SNP KCNC2 ENST00000341669 human ensembl 74_37 -1 known missense c.1868 p.L623R 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC2 HGNC ENSG00000166006 57 0 0 42 3 6.66667 MBNL2 0 genome.wustl.edu 37 13 97999166 97999166 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 13 97999166 97999166 G A SNP MBNL2 ENST00000376673 human ensembl 74_37 +1 known missense c.649 p.V217I 1.000 smart_Znf_CCCH pfam_Znf_CCCH,smart_Znf_CCCH - no_errors MBNL2 HGNC ENSG00000139793 94 0 0 59 9 13.2353 MYH6 0 genome.wustl.edu 37 14 23866231 23866231 + Silent SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 14 23866231 23866231 G T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.2109 p.G703 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 72 0 0 70 5 6.66667 DHRS4-AS1 0 genome.wustl.edu 37 14 24422915 24422915 + RNA SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 14 24422915 24422915 T G SNP DHRS4-AS1 ENST00000553454 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors DHRS4-AS1 HGNC ENSG00000215256 24 0 0 30 3 9.09091 FLRT2 0 genome.wustl.edu 37 14 86087927 86087927 + Silent SNP C C A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 14 86087927 86087927 C A SNP FLRT2 ENST00000330753 human ensembl 74_37 +1 known silent c.69 p.S23 1.000 NULL pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 109 0 0 97 15 13.3929 KCNK13 0 genome.wustl.edu 37 14 90651134 90651134 + Silent SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 14 90651134 90651134 C T SNP KCNK13 ENST00000282146 human ensembl 74_37 +1 known silent c.1014 p.D338 0.008 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_THIK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK13 HGNC ENSG00000152315 130 0 0 103 15 12.7119 UBE3A 0 genome.wustl.edu 37 15 25616755 25616755 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 15 25616755 25616755 T G SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.575 p.E192A 1.000 pirsf_Ubiquitin-protein_ligase_E6-AP pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 221 0 0 159 14 8.09249 SPTBN5 0 genome.wustl.edu 37 15 42178399 42178399 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 15 42178399 42178399 G A SNP SPTBN5 ENST00000320955 human ensembl 74_37 -1 known missense c.1054 p.R352C 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 50 0 0 28 6 17.6471 SNX29 0 genome.wustl.edu 37 16 12096857 12096857 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 16 12096857 12096857 C T SNP SNX29 ENST00000569801 human ensembl 74_37 +1 known missense c.79 p.R27C 1.000 NULL pfscan_Run - no_errors SNX29 HGNC ENSG00000048471 95 0 0 58 7 10.7692 MEFV 0 genome.wustl.edu 37 16 3304411 3304411 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 16 3304411 3304411 G A SNP MEFV ENST00000219596 human ensembl 74_37 -1 known silent c.657 p.G219 0.000 NULL pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl_sf,superfamily_DEATH-like_dom,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin - no_errors MEFV HGNC ENSG00000103313 49 0 0 41 4 8.88889 CMIP 0 genome.wustl.edu 37 16 81739133 81739133 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 16 81739133 81739133 G A SNP CMIP ENST00000537098 human ensembl 74_37 +1 known silent c.2121 p.S707 0.971 NULL NULL - no_errors CMIP HGNC ENSG00000153815 21 0 0 12 4 25 DNAH9 0 genome.wustl.edu 37 17 11795238 11795238 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 11795238 11795238 A C SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.11257 p.T3753P 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 170 0 0 145 15 9.375 MPRIP 0 genome.wustl.edu 37 17 17077343 17077343 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 17077343 17077343 T G SNP MPRIP ENST00000395811 human ensembl 74_37 +1 known missense c.2543 p.L848R 1.000 NULL pfam_Pleckstrin_homology,superfamily_Ferritin-like_SF,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors MPRIP HGNC ENSG00000133030 59 0 0 41 5 10.8696 NLK 0 genome.wustl.edu 37 17 26518100 26518100 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 26518100 26518100 G A SNP NLK ENST00000407008 human ensembl 74_37 +1 known silent c.1290 p.G430 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NLK HGNC ENSG00000087095 87 0 0 82 12 12.766 FOXN1 0 genome.wustl.edu 37 17 26851592 26851592 + Silent SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 26851592 26851592 A C SNP FOXN1 ENST00000226247 human ensembl 74_37 +1 known silent c.195 p.P65 0.375 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN1 HGNC ENSG00000109101 141 0 0 117 13 10 MED24 0 genome.wustl.edu 37 17 38189673 38189673 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 38189673 38189673 A C SNP MED24 ENST00000394128 human ensembl 74_37 -1 known missense c.596 p.L199R 1.000 pfam_Mediator_Med24_N pfam_Mediator_Med24_N - no_errors MED24 HGNC ENSG00000008838 16 0 0 12 2 14.2857 MSI2 0 genome.wustl.edu 37 17 55334407 55334407 + RNA SNP A A T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 55334407 55334407 A T SNP MSI2 ENST00000579531 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MSI2 HGNC ENSG00000153944 37 0 0 36 3 7.69231 VEZF1 0 genome.wustl.edu 37 17 56059278 56059278 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 56059278 56059278 G A SNP VEZF1 ENST00000581208 human ensembl 74_37 -1 known missense c.748 p.H250Y 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors VEZF1 HGNC ENSG00000136451 91 0 0 68 6 8.10811 RPS6KB1 0 genome.wustl.edu 37 17 58024086 58024086 + Silent SNP A A T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 58024086 58024086 A T SNP RPS6KB1 ENST00000225577 human ensembl 74_37 +1 known silent c.1515 p.P505 0.924 pirsf_Ribosomal_S6_kinase pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Ribosomal_S6_kinase,pfscan_Prot_kinase_dom - no_errors RPS6KB1 HGNC ENSG00000108443 134 0 0 102 7 6.42202 PRKAR1A 0 genome.wustl.edu 37 17 66524021 66524021 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 66524021 66524021 T G SNP PRKAR1A ENST00000358598 human ensembl 74_37 +1 known missense c.749 p.L250R 1.000 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR1A HGNC ENSG00000108946 92 0 0 59 8 11.9403 GLOD4 0 genome.wustl.edu 37 17 680125 680125 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 680125 680125 G A SNP GLOD4 ENST00000301328 human ensembl 74_37 -1 known missense c.289 p.L97F 1.000 NULL NULL - no_errors GLOD4 HGNC ENSG00000167699 121 0 0 111 10 8.26446 TP53 0 genome.wustl.edu 37 17 7577084 7577084 + Missense_Mutation SNP T T A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 7577084 7577084 T A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.854 p.E285V 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 66 0 0 39 14 26.4151 DNAH2 0 genome.wustl.edu 37 17 7724572 7724572 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 17 7724572 7724572 G A SNP DNAH2 ENST00000389173 human ensembl 74_37 +1 known missense c.11027 p.R3676H 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH2 HGNC ENSG00000183914 155 0 0 113 8 6.61157 DCC 0 genome.wustl.edu 37 18 50278619 50278619 + Missense_Mutation SNP C C G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 18 50278619 50278619 C G SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.287 p.S96C 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 111 1 0.892857 77 7 8.33333 CYB5A 0 genome.wustl.edu 37 18 71920857 71920857 + Missense_Mutation SNP C C G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 18 71920857 71920857 C G SNP CYB5A ENST00000340533 human ensembl 74_37 -1 known missense c.367 p.V123L 0.881 NULL pfam_Cyt_B5-like_heme/steroid-bd,superfamily_Cyt_B5-like_heme/steroid-bd,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Cyt_B5-like_heme/steroid-bd - no_errors CYB5A HGNC ENSG00000166347 32 0 0 33 3 8.33333 SALL3 0 genome.wustl.edu 37 18 76754852 76754852 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 18 76754852 76754852 C T SNP SALL3 ENST00000537592 human ensembl 74_37 +1 known missense c.2861 p.A954V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL3 HGNC ENSG00000256463 29 0 0 18 3 14.2857 ABHD17A 0 genome.wustl.edu 37 19 1877558 1877558 + Missense_Mutation SNP C C G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 1877558 1877558 C G SNP ABHD17A ENST00000250974 human ensembl 74_37 -1 known missense c.809 p.R270P 1.000 pfam_Dienelactn_hydro pfam_Dienelactn_hydro - no_errors ABHD17A HGNC ENSG00000129968 33 0 0 19 3 13.6364 HAPLN4 0 genome.wustl.edu 37 19 19371983 19371983 + Silent SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 19371983 19371983 C T SNP HAPLN4 ENST00000291481 human ensembl 74_37 -1 known silent c.123 p.E41 1.000 NULL pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN4 HGNC ENSG00000187664 36 0 0 27 3 10 ZNF208 0 genome.wustl.edu 37 19 22156850 22156850 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 22156850 22156850 A G SNP ZNF208 ENST00000397126 human ensembl 74_37 -1 novel missense c.986 p.I329T 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 ZNF208 HGNC ENSG00000160321 23 0 0 31 9 22.5 ZNF729 0 genome.wustl.edu 37 19 22497235 22497235 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 22497235 22497235 A C SNP ZNF729 ENST00000601693 human ensembl 74_37 +1 novel missense c.1016 p.K339T 0.011 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 ZNF729 HGNC ENSG00000196350 38 0 0 29 4 12.1212 ZNF99 0 genome.wustl.edu 37 19 22939535 22939535 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 22939535 22939535 T G SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.2636 p.K879T 0.281 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 ZNF99 HGNC ENSG00000213973 64 0 0 38 8 17.3913 LOC100506469 0 genome.wustl.edu 37 19 36034531 36034531 + RNA SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 36034531 36034531 A C SNP LOC100506469 ENST00000588286 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 132 0 0 83 10 10.7527 ZNF829 0 genome.wustl.edu 37 19 37383033 37383033 + Silent SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 37383033 37383033 A G SNP ZNF829 ENST00000520965 human ensembl 74_37 -1 known silent c.903 p.A301 0.936 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 ZNF829 HGNC ENSG00000185869 88 0 0 53 7 11.6667 ZNF585A 0 genome.wustl.edu 37 19 37644040 37644040 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 37644040 37644040 T C SNP ZNF585A ENST00000356958 human ensembl 74_37 -1 known missense c.761 p.K254R 0.003 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF585A HGNC ENSG00000196967 192 0 0 122 14 10.2941 SIGLEC12 0 genome.wustl.edu 37 19 52002437 52002437 + Missense_Mutation SNP T T A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 52002437 52002437 T A SNP SIGLEC12 ENST00000291707 human ensembl 74_37 -1 known missense c.1122 p.Q374H 0.005 pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC12 HGNC ENSG00000254521 87 0 0 73 10 12.0482 ZNF578 0 genome.wustl.edu 37 19 53014994 53014994 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 53014994 53014994 T C SNP ZNF578 ENST00000421239 human ensembl 74_37 +1 known missense c.1360 p.S454P 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF578 HGNC ENSG00000258405 91 0 0 40 11 21.5686 ACTL9 0 genome.wustl.edu 37 19 8809050 8809050 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 8809050 8809050 A G SNP ACTL9 ENST00000324436 human ensembl 74_37 -1 known missense c.2 p.M1T 0.918 NULL pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL9 HGNC ENSG00000181786 121 0 0 58 16 21.6216 MUC16 0 genome.wustl.edu 37 19 9017470 9017470 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 9017470 9017470 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.37854 p.H12618 0.000 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 143 0 0 89 11 11 KCNF1 0 genome.wustl.edu 37 2 11053508 11053508 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 11053508 11053508 G A SNP KCNF1 ENST00000295082 human ensembl 74_37 +1 known missense c.956 p.R319H 1.000 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_PKD1_2_channel,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv1,prints_K_chnl_volt-dep_Kv6 - no_errors KCNF1 HGNC ENSG00000162975 58 0 0 54 5 8.47458 LRP1B 0 genome.wustl.edu 37 2 141946115 141946115 + Silent SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 141946115 141946115 A G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.888 p.N296 1.000 pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,smart_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 66 0 0 50 4 7.40741 DYNC1I2 0 genome.wustl.edu 37 2 172585298 172585298 + Silent SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 172585298 172585298 T C SNP DYNC1I2 ENST00000397119 human ensembl 74_37 +1 known silent c.1329 p.D443 0.997 superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom pfam_Dynein_IC_1/2,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DYNC1I2 HGNC ENSG00000077380 16 0 0 21 2 8.69565 OSBPL6 0 genome.wustl.edu 37 2 179260240 179260240 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 179260240 179260240 G A SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2771 p.R924Q 1.000 NULL pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 74 0 0 70 10 12.5 TTN 0 genome.wustl.edu 37 2 179423358 179423358 + Missense_Mutation SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 179423358 179423358 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79124 p.P26375Q 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 33 0 0 24 3 11.1111 TTN 0 genome.wustl.edu 37 2 179423359 179423359 + Missense_Mutation SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 179423359 179423359 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.79123 p.P26375T 1.000 superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 33 0 0 24 3 11.1111 ERBB4 0 genome.wustl.edu 37 2 212251754 212251754 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 212251754 212251754 A C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known missense c.3305 p.F1102C 0.992 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 121 0 0 106 10 8.62069 VRK2 0 genome.wustl.edu 37 2 58386561 58386561 + Silent SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 58386561 58386561 C T SNP VRK2 ENST00000340157 human ensembl 74_37 +1 known silent c.1260 p.I420 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom - no_errors VRK2 HGNC ENSG00000028116 79 0 0 70 4 5.40541 RAB11FIP5 0 genome.wustl.edu 37 2 73316544 73316544 + RNA SNP C C A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 2 73316544 73316544 C A SNP RAB11FIP5 ENST00000493523 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAB11FIP5 HGNC ENSG00000135631 60 0 0 32 5 13.5135 PDYN 0 genome.wustl.edu 37 20 1961114 1961114 + Missense_Mutation SNP T T A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 20 1961114 1961114 T A SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.620 p.Y207F 0.998 NULL pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 180 0 0 164 9 5.20231 CSTL1 0 genome.wustl.edu 37 20 23421043 23421043 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 20 23421043 23421043 T G SNP CSTL1 ENST00000246020 human ensembl 74_37 +1 known missense c.139 p.F47V 0.927 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CSTL1 HGNC ENSG00000125823 151 0 0 149 11 6.875 CST5 0 genome.wustl.edu 37 20 23860165 23860165 + Missense_Mutation SNP A A T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 20 23860165 23860165 A T SNP CST5 ENST00000304710 human ensembl 74_37 -1 known missense c.149 p.F50Y 0.007 pfam_Prot_inh_cystat,smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST5 HGNC ENSG00000170367 251 0 0 225 15 6.25 CPNE1 0 genome.wustl.edu 37 20 34220233 34220233 + Silent SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 20 34220233 34220233 C T SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known silent c.399 p.T133 0.998 superfamily_C2_dom pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 40 0 0 36 4 10 RBM39 0 genome.wustl.edu 37 20 34293266 34293266 + RNA SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 20 34293266 34293266 T C SNP RBM39 ENST00000490354 human ensembl 74_37 -1 putative rna NULL NULL 0.006 - - - no_errors RBM39 HGNC ENSG00000131051 38 0 0 28 6 17.6471 COMT 0 genome.wustl.edu 37 22 19951271 19951271 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 22 19951271 19951271 G A SNP COMT ENST00000361682 human ensembl 74_37 +1 known missense c.472 p.V158M 0.925 pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk pfam_O-MeTrfase_3,pirsf_Catechol_O-MeTrfase_euk - no_errors COMT HGNC ENSG00000093010 26 0 0 33 3 8.33333 PES1 0 genome.wustl.edu 37 22 30984024 30984024 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 22 30984024 30984024 T G SNP PES1 ENST00000354694 human ensembl 74_37 -1 known missense c.242 p.K81T 1.000 pfam_Pescadillo pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 106 0 0 69 5 6.75676 SBF1 0 genome.wustl.edu 37 22 50895067 50895067 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 22 50895067 50895067 T C SNP SBF1 ENST00000380817 human ensembl 74_37 -1 known missense c.3940 p.S1314G 0.668 NULL pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotubularin-like_Pase_dom,pfam_dDENN_dom,pfam_GRAM,pfam_Pleckstrin_homology,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 SBF1 HGNC ENSG00000100241 8 0 0 1 9 90 SLCO2A1 0 genome.wustl.edu 37 3 133661595 133661595 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 133661595 133661595 G A SNP SLCO2A1 ENST00000310926 human ensembl 74_37 -1 known silent c.1479 p.S493 1.000 pfam_OA_transporter,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO2A1 HGNC ENSG00000174640 96 0 0 68 6 8.10811 CNTN6 0 genome.wustl.edu 37 3 1337371 1337371 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 1337371 1337371 T G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.541 p.L181V 0.961 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 68 0 0 51 6 10.5263 CPA3 0 genome.wustl.edu 37 3 148614411 148614411 + Nonsense_Mutation SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 148614411 148614411 G T SNP CPA3 ENST00000296046 human ensembl 74_37 +1 known nonsense c.1171 p.E391* 0.997 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPA3 HGNC ENSG00000163751 113 0 0 95 5 5 ATP13A5 0 genome.wustl.edu 37 3 193002808 193002808 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 193002808 193002808 T C SNP ATP13A5 ENST00000342358 human ensembl 74_37 -1 known missense c.3121 p.S1041G 0.988 tigrfam_ATPase_P-typ_Cation_typ_V pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_Cation_typ_V,pfam_ATPase_P-typ_cation-transptr_N,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Cation_typ_V,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP13A5 HGNC ENSG00000187527 75 0 0 58 7 10.7692 ZNF385D 0 genome.wustl.edu 37 3 21552487 21552487 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 21552487 21552487 G A SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known missense c.305 p.T102M 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 66 0 0 63 6 8.69565 SCN10A 0 genome.wustl.edu 37 3 38768457 38768457 + Missense_Mutation SNP G G C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 38768457 38768457 G C SNP SCN10A ENST00000449082 human ensembl 74_37 -1 known missense c.2727 p.N909K 1.000 pfam_Na_trans_assoc pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 164 0 0 151 12 7.36196 ANO10 0 genome.wustl.edu 37 3 43642035 43642035 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 43642035 43642035 C T SNP ANO10 ENST00000292246 human ensembl 74_37 -1 known missense c.178 p.E60K 0.998 NULL pfam_Anoctamin - no_errors ANO10 HGNC ENSG00000160746 142 0 0 87 5 5.43478 SACM1L 0 genome.wustl.edu 37 3 45744976 45744976 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 45744976 45744976 G A SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.79 p.A27T 0.996 NULL pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 109 0 0 75 7 8.53659 STAB1 0 genome.wustl.edu 37 3 52556627 52556627 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 52556627 52556627 T G SNP STAB1 ENST00000321725 human ensembl 74_37 +1 known missense c.6667 p.F2223V 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,smart_EG-like_dom,smart_EGF_laminin,smart_FAS1_domain,smart_EGF-like_Ca-bd_dom,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB1 HGNC ENSG00000010327 126 0 0 101 16 13.6752 HESX1 0 genome.wustl.edu 37 3 57232457 57232457 + Missense_Mutation SNP A A T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 3 57232457 57232457 A T SNP HESX1 ENST00000295934 human ensembl 74_37 -1 known missense c.421 p.L141I 0.978 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HESX1 HGNC ENSG00000163666 48 0 0 39 5 11.3636 NDST3 0 genome.wustl.edu 37 4 118975769 118975769 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 4 118975769 118975769 T G SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.704 p.F235C 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 157 0 0 106 11 9.40171 FAT4 0 genome.wustl.edu 37 4 126411185 126411185 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 4 126411185 126411185 T C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.13208 p.I4403T 1.000 superfamily_ConA-like_lec_gl_sf 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 229 0 0 238 26 9.84848 DCHS2 0 genome.wustl.edu 37 4 155253742 155253742 + Silent SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 4 155253742 155253742 G A SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.2121 p.P707 1.000 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS2 HGNC ENSG00000197410 145 0 0 127 11 7.97101 TMA16 0 genome.wustl.edu 37 4 164440523 164440523 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 4 164440523 164440523 A C SNP TMA16 ENST00000358572 human ensembl 74_37 +1 known missense c.469 p.K157Q 1.000 pfam_Tma16 pfam_Tma16 - no_errors TMA16 HGNC ENSG00000198498 39 0 0 18 4 18.1818 WDR19 0 genome.wustl.edu 37 4 39216265 39216265 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 4 39216265 39216265 T C SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.935 p.I312T 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 55 0 0 23 3 11.5385 GRXCR1 0 genome.wustl.edu 37 4 42895515 42895515 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 4 42895515 42895515 G A SNP GRXCR1 ENST00000399770 human ensembl 74_37 +1 known missense c.232 p.D78N 1.000 NULL pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 208 0 0 143 20 12.2699 SH3TC1 0 genome.wustl.edu 37 4 8218729 8218729 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 4 8218729 8218729 C T SNP SH3TC1 ENST00000245105 human ensembl 74_37 +1 known missense c.674 p.T225M 0.000 NULL superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC1 HGNC ENSG00000125089 121 0 0 64 9 12.3288 TIFAB 0 genome.wustl.edu 37 5 134785284 134785284 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 134785284 134785284 C T SNP TIFAB ENST00000537858 human ensembl 74_37 -1 known missense c.346 p.V116I 0.000 superfamily_SMAD_FHA_domain pfam_FHA_dom,superfamily_SMAD_FHA_domain - no_errors TIFAB HGNC ENSG00000255833 175 0 0 123 9 6.81818 PCDHA8 0 genome.wustl.edu 37 5 140221669 140221669 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 140221669 140221669 G A SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known missense c.763 p.A255T 0.102 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 118 0 0 72 6 7.69231 PCDHA10 0 genome.wustl.edu 37 5 140236731 140236731 + Silent SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 140236731 140236731 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known silent c.1098 p.T366 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 162 0 0 139 13 8.55263 PCDHB1 0 genome.wustl.edu 37 5 140431954 140431954 + Missense_Mutation SNP A A T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 140431954 140431954 A T SNP PCDHB1 ENST00000306549 human ensembl 74_37 +1 known missense c.899 p.E300V 0.569 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB1 HGNC ENSG00000171815 113 0 0 83 6 6.74157 PCDHGA12 0 genome.wustl.edu 37 5 140811824 140811824 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 140811824 140811824 A G SNP PCDHGA12 ENST00000252085 human ensembl 74_37 +1 known missense c.1498 p.S500G 0.050 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA12 HGNC ENSG00000253159 119 0 0 89 7 7.29167 HTR4 0 genome.wustl.edu 37 5 147889386 147889386 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 147889386 147889386 C T SNP HTR4 ENST00000360693 human ensembl 74_37 -1 known missense c.709 p.E237K 0.942 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_5HT4_rcpt,prints_GPCR_Rhodpsn - no_errors HTR4 HGNC ENSG00000164270 59 0 0 61 5 7.57576 TENM2 0 genome.wustl.edu 37 5 167489111 167489111 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 167489111 167489111 A C SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.1356 p.E452D 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 57 0 0 36 6 14.2857 CDHR2 0 genome.wustl.edu 37 5 176005434 176005434 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 176005434 176005434 G A SNP CDHR2 ENST00000261944 human ensembl 74_37 +1 known missense c.1643 p.R548Q 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDHR2 HGNC ENSG00000074276 44 0 0 31 4 11.4286 AGXT2 0 genome.wustl.edu 37 5 35010216 35010216 + Silent SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 35010216 35010216 T C SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known silent c.1227 p.E409 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 160 1 0.621118 104 7 6.30631 NIPBL 0 genome.wustl.edu 37 5 36955688 36955688 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 36955688 36955688 A G SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known missense c.179 p.N60S 0.998 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 129 0 0 72 18 20 LIFR 0 genome.wustl.edu 37 5 38527391 38527391 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 38527391 38527391 C T SNP LIFR ENST00000263409 human ensembl 74_37 -1 known missense c.263 p.R88H 0.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors LIFR HGNC ENSG00000113594 63 0 0 32 7 17.9487 BDP1 0 genome.wustl.edu 37 5 70818194 70818194 + Silent SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 70818194 70818194 A C SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known silent c.5070 p.G1690 0.953 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 185 0 0 140 12 7.89474 FOXD1 0 genome.wustl.edu 37 5 72743802 72743802 + Missense_Mutation SNP G G C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 72743802 72743802 G C SNP FOXD1 ENST00000499003 human ensembl 74_37 -1 known missense c.386 p.S129W 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 FOXD1 HGNC ENSG00000251493 38 0 0 28 3 9.67742 ROS1 0 genome.wustl.edu 37 6 117631255 117631255 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 6 117631255 117631255 T G SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known missense c.6423 p.Q2141H 0.454 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 150 0 0 112 8 6.66667 TIAM2 0 genome.wustl.edu 37 6 155458563 155458563 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 6 155458563 155458563 G A SNP TIAM2 ENST00000456144 human ensembl 74_37 +1 known missense c.1447 p.A483T 0.233 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,superfamily_HR1_rho-bd,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM2 HGNC ENSG00000146426 142 1 0.699301 140 13 8.49673 SLC17A3 0 genome.wustl.edu 37 6 25861882 25861882 + Nonsense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 6 25861882 25861882 G A SNP SLC17A3 ENST00000397060 human ensembl 74_37 -1 known nonsense c.595 p.R199* 0.998 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A3 HGNC ENSG00000124564 120 0 0 77 6 7.22892 ABCF1 0 genome.wustl.edu 37 6 30551425 30551425 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 6 30551425 30551425 T C SNP ABCF1 ENST00000326195 human ensembl 74_37 +1 known missense c.956 p.F319S 1.000 superfamily_P-loop_NTPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 172 0 0 127 26 16.9935 TAF8 0 genome.wustl.edu 37 6 42044976 42044976 + Nonsense_Mutation SNP A A T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 6 42044976 42044976 A T SNP TAF8 ENST00000456846 human ensembl 74_37 +1 known nonsense c.919 p.K307* 1.000 NULL pfam_BTP,pfam_TFIID_su8_C,superfamily_Histone-fold,smart_BTP - no_errors TAF8 HGNC ENSG00000137413 53 0 0 29 4 12.1212 HTR1B 0 genome.wustl.edu 37 6 78172330 78172330 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 6 78172330 78172330 G A SNP HTR1B ENST00000369947 human ensembl 74_37 -1 known missense c.791 p.T264M 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1B_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_5HT1B_rcpt,prints_5HT_rcpt,prints_ADR_fam - no_errors HTR1B HGNC ENSG00000135312 167 0 0 124 11 8.14815 NDUFAF4 0 genome.wustl.edu 37 6 97344625 97344625 + Silent SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 6 97344625 97344625 A G SNP NDUFAF4 ENST00000316149 human ensembl 74_37 -1 known silent c.235 p.L79 0.001 pfam_NDUFAF4 pfam_NDUFAF4 - no_errors NDUFAF4 HGNC ENSG00000123545 147 0 0 80 12 13.0435 RELN 0 genome.wustl.edu 37 7 103338436 103338436 + Missense_Mutation SNP C C G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 7 103338436 103338436 C G SNP RELN ENST00000424685 human ensembl 74_37 -1 known missense c.1007 p.G336A 0.995 NULL pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 210 0 0 143 11 7.14286 NRCAM 0 genome.wustl.edu 37 7 107790344 107790344 + RNA SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 7 107790344 107790344 G T SNP NRCAM ENST00000522550 human ensembl 74_37 -1 known rna NULL NULL 0.901 - - - no_errors NRCAM HGNC ENSG00000091129 139 0 0 103 12 10.4348 FOXP2 0 genome.wustl.edu 37 7 114298186 114298186 + Silent SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 7 114298186 114298186 T G SNP FOXP2 ENST00000408937 human ensembl 74_37 +1 known silent c.1407 p.P469 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXP2 HGNC ENSG00000128573 118 0 0 122 10 7.57576 ESYT2 0 genome.wustl.edu 37 7 158531733 158531733 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 7 158531733 158531733 C T SNP ESYT2 ENST00000251527 human ensembl 74_37 -1 known missense c.2329 p.V777M 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors ESYT2 HGNC ENSG00000117868 86 0 0 76 6 7.31707 SUN1 0 genome.wustl.edu 37 7 905675 905675 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 7 905675 905675 T C SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known missense c.2518 p.F840L 1.000 pfam_Sad1_UNC_C pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 62 0 0 43 9 17.3077 PABPC1 0 genome.wustl.edu 37 8 101730110 101730110 + Missense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 8 101730110 101730110 A C SNP PABPC1 ENST00000318607 human ensembl 74_37 -1 known missense c.394 p.C132G 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 65 0 0 60 5 7.69231 CSMD3 0 genome.wustl.edu 37 8 114290851 114290851 + Missense_Mutation SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 8 114290851 114290851 T C SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.484 p.S162G 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 68 0 0 61 11 15.2778 MED30 0 genome.wustl.edu 37 8 118552170 118552170 + Nonsense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 8 118552170 118552170 C T SNP MED30 ENST00000297347 human ensembl 74_37 +1 known nonsense c.490 p.R164* 1.000 pfam_Mediator_Med30_met pfam_Mediator_Med30_met - no_errors MED30 HGNC ENSG00000164758 28 0 0 15 4 21.0526 ADCY8 0 genome.wustl.edu 37 8 131797714 131797714 + Missense_Mutation SNP C C A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 8 131797714 131797714 C A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.3068 p.G1023V 0.652 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY8 HGNC ENSG00000155897 66 0 0 42 4 8.69565 GPAA1 0 genome.wustl.edu 37 8 145139460 145139460 + Missense_Mutation SNP C C T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 8 145139460 145139460 C T SNP GPAA1 ENST00000355091 human ensembl 74_37 +1 known missense c.958 p.R320C 0.801 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 pfam_Gaa1,pirsf_GPI_prot_transamidse_cplx_GAA1 - no_errors GPAA1 HGNC ENSG00000197858 92 0 0 76 19 20 TUSC3 0 genome.wustl.edu 37 8 15519706 15519706 + Silent SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 8 15519706 15519706 T G SNP TUSC3 ENST00000503731 human ensembl 74_37 +1 known silent c.609 p.A203 0.993 pfam_OligosaccharylTrfase_OST3/OST6 pfam_OligosaccharylTrfase_OST3/OST6,pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TUSC3 HGNC ENSG00000104723 133 0 0 112 6 5.08475 ZMYND19 0 genome.wustl.edu 37 9 140477600 140477600 + Nonsense_Mutation SNP A A C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 9 140477600 140477600 A C SNP ZMYND19 ENST00000298585 human ensembl 74_37 -1 known nonsense c.375 p.Y125* 1.000 NULL pfam_Znf_MYND,pfscan_Znf_MYND - no_errors ZMYND19 HGNC ENSG00000165724 249 0 0 188 14 6.93069 TEK 0 genome.wustl.edu 37 9 27172728 27172728 + Missense_Mutation SNP G G A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 9 27172728 27172728 G A SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.743 p.G248E 1.000 smart_EG-like_dom,pfscan_EG-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 50 0 0 42 4 8.69565 ACTRT1 0 genome.wustl.edu 37 X 127185687 127185687 + Missense_Mutation SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 X 127185687 127185687 G T SNP ACTRT1 ENST00000371124 human ensembl 74_37 -1 known missense c.499 p.P167T 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT1 HGNC ENSG00000123165 80 0 0 54 14 20.5882 GLRA2 0 genome.wustl.edu 37 X 14625361 14625361 + Missense_Mutation SNP T T G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 X 14625361 14625361 T G SNP GLRA2 ENST00000218075 human ensembl 74_37 +1 known missense c.686 p.L229R 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_Glycine_rcpt_A,prints_Glycine_rcpt_A2,prints_Neur_channel,tigrfam_Neur_channel - no_errors GLRA2 HGNC ENSG00000101958 69 0 0 57 19 25 ABCD1 0 genome.wustl.edu 37 X 152991318 152991318 + Missense_Mutation SNP G G T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 X 152991318 152991318 G T SNP ABCD1 ENST00000218104 human ensembl 74_37 +1 known missense c.597 p.E199D 1.000 pfam_ABC_Peroxi_TM,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_FA_transporter pfam_ABC_Peroxi_TM,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_FA_transporter - no_errors ABCD1 HGNC ENSG00000101986 74 0 0 35 8 18.6047 CNKSR2 0 genome.wustl.edu 37 X 21627334 21627334 + Missense_Mutation SNP A A G TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 X 21627334 21627334 A G SNP CNKSR2 ENST00000379510 human ensembl 74_37 +1 known missense c.2291 p.Q764R 1.000 NULL pfam_CNKSR2,pfam_CRIC_domain_Chordata,pfam_SAM_type1,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_PDZ,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR2 HGNC ENSG00000149970 62 0 0 55 6 9.83607 PABPC5 0 genome.wustl.edu 37 X 90691563 90691563 + Missense_Mutation SNP T T A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 X 90691563 90691563 T A SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.987 p.S329R 0.974 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 56 0 0 42 8 16 PABPC5 0 genome.wustl.edu 37 X 90691626 90691626 + Silent SNP T T C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 X 90691626 90691626 T C SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known silent c.1050 p.S350 0.974 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 42 0 0 31 9 22.5 FMN2 0 genome.wustl.edu 37 1 240370873 240370873 + Frame_Shift_Del DEL C C - TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 240370873 240370873 C - DEL FMN2 ENST00000319653 human ensembl 74_37 +1 known frame_shift_del c.2761 p.P921fs 0.014 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 123 0 0 131 17 11.4865 HS2ST1 0 genome.wustl.edu 37 1 87569239 87569239 + Frame_Shift_Del DEL T T - TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 1 87569239 87569239 T - DEL HS2ST1 ENST00000370550 human ensembl 74_37 +1 known frame_shift_del c.811 p.F272fs 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS2ST1 HGNC ENSG00000153936 182 0 0 120 9 6.97674 RTKN2 0 genome.wustl.edu 37 10 64022582 64022583 + Splice_Site INS - - A TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 10 64022582 64022583 - A INS RTKN2 ENST00000373789 human ensembl 74_37 -1 known splice_site_ins c.61-3_61-2 e2-2 1.000:0.881 - - - no_errors RTKN2 HGNC ENSG00000182010 27 0 0 14 2 12.5 C12orf40 0 genome.wustl.edu 37 12 40020151 40020151 + Frame_Shift_Del DEL G G - TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 12 40020151 40020151 G - DEL C12orf40 ENST00000324616 human ensembl 74_37 +1 known frame_shift_del c.13 p.S7fs 1.000 NULL NULL - no_errors C12orf40 HGNC ENSG00000180116 34 0 0 21 4 16 RBM25 0 genome.wustl.edu 37 14 73572607 73572608 + Frame_Shift_Del DEL AG AG - TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 14 73572607 73572608 AG - DEL RBM25 ENST00000261973 human ensembl 74_37 +1 known frame_shift_del c.1195_1196 p.E402fs 0.998:1.000 NULL pfam_PWI_dom,pfam_RRM_dom,superfamily_PWI_dom,smart_RRM_dom,smart_PWI_dom,pfscan_RRM_dom - no_errors RBM25 HGNC ENSG00000119707 28 0 0 17 3 15 SLC12A3 0 genome.wustl.edu 37 16 56906327 56906328 + Frame_Shift_Ins INS - - C TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 16 56906327 56906328 - C INS SLC12A3 ENST00000438926 human ensembl 74_37 +1 known frame_shift_ins c.917_918 p.S309fs 1.000:0.994 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_NaCl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A3 HGNC ENSG00000070915 58 0 0 48 6 11.1111 ENSG00000266156 0 genome.wustl.edu 37 19 20988370 20988370 + RNA DEL T T - TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 19 20988370 20988370 T - DEL ENSG00000266156 ENST00000582722 human ensembl 74_37 +1 novel rna NULL NULL 0.001 - - - no_errors AC010329.1 Clone_based_ensembl_gene ENSG00000266156 29 0 0 9 2 18.1818 RICTOR 0 genome.wustl.edu 37 5 38954825 38954826 + RNA INS - - T TCGA-BR-8590-01A-11D-2394-08 TCGA-BR-8590-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2040e830-a590-4b3b-a1e1-2addef74d2a3 974b3d0e-a371-4ac2-bf63-94ad2f7e6d44 5 38954825 38954826 - T INS RICTOR ENST00000503698 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RICTOR HGNC ENSG00000164327 31 0 0 23 5 17.8571