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 SASS6 0 genome.wustl.edu 37 1 100573401 100573401 + Missense_Mutation SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 100573401 100573401 T C SNP SASS6 ENST00000287482 human ensembl 74_37 -1 known missense c.1021 p.T341A 1.000 NULL NULL - no_errors SASS6 HGNC ENSG00000156876 88 0 0 34 19 35.8491 NPPA 0 genome.wustl.edu 37 1 11907324 11907324 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 11907324 11907324 C T SNP NPPA ENST00000376480 human ensembl 74_37 -1 known missense c.296 p.R99Q 0.060 prints_Natriuretic_peptide_atrial pfam_Natr_peptide,smart_Natr_peptide,prints_Natriuretic_peptide_atrial,prints_Natr_peptide - no_errors NPPA HGNC ENSG00000175206 135 0 0 54 49 47.5728 GBAP1 0 genome.wustl.edu 37 1 155187130 155187130 + RNA SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 155187130 155187130 G A SNP GBAP1 ENST00000368374 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GBAP1 HGNC ENSG00000160766 85 0 0 86 14 14 LRRC52 0 genome.wustl.edu 37 1 165513566 165513566 + Nonsense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 165513566 165513566 G A SNP LRRC52 ENST00000294818 human ensembl 74_37 +1 known nonsense c.33 p.W11* 1.000 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC52 HGNC ENSG00000162763 105 0 0 122 28 18.6667 PADI2 0 genome.wustl.edu 37 1 17395663 17395663 + Missense_Mutation SNP A A T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 17395663 17395663 A T SNP PADI2 ENST00000375486 human ensembl 74_37 -1 known missense c.1874 p.L625Q 1.000 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI2 HGNC ENSG00000117115 130 0 0 58 44 43.1373 ACTL8 0 genome.wustl.edu 37 1 18149652 18149652 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 18149652 18149652 G A SNP ACTL8 ENST00000375406 human ensembl 74_37 +1 known missense c.149 p.R50H 0.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTL8 HGNC ENSG00000117148 152 0 0 72 31 30.0971 NPL 0 genome.wustl.edu 37 1 182798028 182798028 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 182798028 182798028 G T SNP NPL ENST00000258317 human ensembl 74_37 +1 known missense c.948 p.L316F 0.118 NULL pfam_DapA-like,prints_DapA-like - no_errors NPL HGNC ENSG00000135838 134 0 0 106 9 7.82609 PRG4 0 genome.wustl.edu 37 1 186276027 186276027 + Silent SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 186276027 186276027 T C SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.1176 p.T392 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 103 1 0.961538 298 35 10.5105 REN 0 genome.wustl.edu 37 1 204131141 204131141 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 204131141 204131141 G A SNP REN ENST00000272190 human ensembl 74_37 -1 known silent c.249 p.D83 0.080 superfamily_Peptidase_aspartic_dom pfam_Aspartic_peptidase,pfam_Aspartic_peptidase_N,superfamily_Peptidase_aspartic_dom,prints_Aspartic_peptidase - no_errors REN HGNC ENSG00000143839 52 0 0 42 8 16 TMCC2 0 genome.wustl.edu 37 1 205238338 205238338 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 205238338 205238338 C T SNP TMCC2 ENST00000358024 human ensembl 74_37 +1 known silent c.1008 p.F336 0.827 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2,superfamily_t-SNARE - no_errors TMCC2 HGNC ENSG00000133069 58 0 0 62 31 33.3333 CSMD2 0 genome.wustl.edu 37 1 34180299 34180299 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 34180299 34180299 G A SNP CSMD2 ENST00000373381 human ensembl 74_37 -1 known silent c.3294 p.G1098 0.021 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 150 0 0 90 34 27.4194 INPP5B 0 genome.wustl.edu 37 1 38351292 38351292 + RNA SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 38351292 38351292 G T SNP INPP5B ENST00000467066 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors INPP5B HGNC ENSG00000204084 81 0 0 32 28 46.6667 SGIP1 0 genome.wustl.edu 37 1 67147694 67147694 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 67147694 67147694 C T SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known silent c.969 p.S323 1.000 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 191 0 0 83 59 41.5493 SGIP1 0 genome.wustl.edu 37 1 67148039 67148039 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 67148039 67148039 G A SNP SGIP1 ENST00000237247 human ensembl 74_37 +1 known silent c.1314 p.P438 0.875 NULL pfam_Muniscin_C-term_mu_dom,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C - no_errors SGIP1 HGNC ENSG00000118473 284 0 0 111 79 41.5789 SLC39A12 0 genome.wustl.edu 37 10 18292192 18292192 + Missense_Mutation SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 10 18292192 18292192 T C SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.1852 p.Y618H 0.999 pfam_ZIP pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 181 0 0 119 28 19.0476 ARMC4 0 genome.wustl.edu 37 10 28225654 28225654 + Splice_Site SNP C C G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 10 28225654 28225654 C G SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known splice_site c.2252+1 e14+1 1.000 - - - no_errors ARMC4 HGNC ENSG00000169126 189 0 0 154 39 20.2073 ENSG00000270002 0 genome.wustl.edu 37 10 87406860 87406860 + RNA SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 10 87406860 87406860 G T SNP ENSG00000270002 ENST00000474115 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-93H12.4 Clone_based_vega_gene ENSG00000270002 103 0 0 57 24 29.6296 ENSG00000254506 0 genome.wustl.edu 37 11 101464942 101464942 + RNA SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 101464942 101464942 C A SNP ENSG00000254506 ENST00000527374 human ensembl 74_37 +1 known rna NULL NULL 0.080 - - - no_errors RP11-748H22.1 Clone_based_vega_gene ENSG00000254506 21 0 0 15 10 40 DDX10 0 genome.wustl.edu 37 11 108709278 108709278 + Missense_Mutation SNP A A T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 108709278 108709278 A T SNP DDX10 ENST00000322536 human ensembl 74_37 +1 known missense c.2071 p.T691S 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX10 HGNC ENSG00000178105 194 0 0 77 30 28.0374 OR10G9 0 genome.wustl.edu 37 11 123894262 123894262 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 123894262 123894262 G A SNP OR10G9 ENST00000375024 human ensembl 74_37 +1 known silent c.543 p.P181 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10G9 HGNC ENSG00000236981 222 1 0.44843 173 62 26.383 DCPS 0 genome.wustl.edu 37 11 126174022 126174022 + Missense_Mutation SNP A A C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 126174022 126174022 A C SNP DCPS ENST00000263579 human ensembl 74_37 +1 known missense c.47 p.D16A 0.000 pirsf_DcpS/DCS2 pfam_DcpS/DCS2,superfamily_HIT-like,superfamily_Scavenger_mRNA_decap_enz_N,pirsf_DcpS/DCS2 - no_errors DCPS HGNC ENSG00000110063 38 0 0 35 8 18.6047 DCPS 0 genome.wustl.edu 37 11 126174023 126174023 + Missense_Mutation SNP C C G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 126174023 126174023 C G SNP DCPS ENST00000263579 human ensembl 74_37 +1 known missense c.48 p.D16E 0.000 pirsf_DcpS/DCS2 pfam_DcpS/DCS2,superfamily_HIT-like,superfamily_Scavenger_mRNA_decap_enz_N,pirsf_DcpS/DCS2 - no_errors DCPS HGNC ENSG00000110063 40 0 0 36 8 18.1818 MUC5B 0 genome.wustl.edu 37 11 1268160 1268160 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 1268160 1268160 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.10059 p.S3353 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 23 0 0 15 7 31.8182 LUZP2 0 genome.wustl.edu 37 11 25004701 25004701 + Silent SNP T T G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 25004701 25004701 T G SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.627 p.T209 0.025 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 184 0 0 81 16 16.4948 CELF1 0 genome.wustl.edu 37 11 47493779 47493779 + RNA SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 47493779 47493779 C T SNP CELF1 ENST00000539455 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CELF1 HGNC ENSG00000149187 349 0 0 278 89 24.2507 OSBP 0 genome.wustl.edu 37 11 59377920 59377920 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 59377920 59377920 G A SNP OSBP ENST00000263847 human ensembl 74_37 -1 known missense c.505 p.R169W 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBP HGNC ENSG00000110048 137 0 0 91 22 19.469 STIP1 0 genome.wustl.edu 37 11 63964584 63964584 + RNA SNP T T A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 63964584 63964584 T A SNP STIP1 ENST00000537479 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors STIP1 HGNC ENSG00000168439 12 0 0 1 4 80 GAB2 0 genome.wustl.edu 37 11 77937657 77937657 + Missense_Mutation SNP C C G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 77937657 77937657 C G SNP GAB2 ENST00000361507 human ensembl 74_37 -1 known missense c.1061 p.R354P 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB2 HGNC ENSG00000033327 86 0 0 45 37 45.122 TENM4 0 genome.wustl.edu 37 11 78381504 78381504 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 78381504 78381504 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known silent c.5886 p.A1962 0.949 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 57 0 0 66 13 16.4557 SYTL2 0 genome.wustl.edu 37 11 85445087 85445087 + Missense_Mutation SNP T T A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 11 85445087 85445087 T A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known missense c.1285 p.T429S 0.001 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 132 0 0 63 30 32.2581 ACACB 0 genome.wustl.edu 37 12 109684073 109684073 + Missense_Mutation SNP T T G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 109684073 109684073 T G SNP ACACB ENST00000338432 human ensembl 74_37 +1 known missense c.5391 p.F1797L 1.000 pfam_Carboxyl_trans pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACB HGNC ENSG00000076555 96 0 0 79 21 21 RPH3A 0 genome.wustl.edu 37 12 113303287 113303287 + Missense_Mutation SNP T T A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 113303287 113303287 T A SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.299 p.L100Q 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 122 0 0 66 25 27.4725 MED13L 0 genome.wustl.edu 37 12 116445251 116445251 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 116445251 116445251 G T SNP MED13L ENST00000281928 human ensembl 74_37 -1 known missense c.2203 p.Q735K 1.000 NULL pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13L HGNC ENSG00000123066 145 0 0 60 15 20 CACNA1C 0 genome.wustl.edu 37 12 2797944 2797944 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 2797944 2797944 C T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known missense c.6329 p.A2110V 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 11 0 0 7 4 36.3636 LIMA1 0 genome.wustl.edu 37 12 50598452 50598452 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 50598452 50598452 C A SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.747 p.E249D 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 116 1 0.854701 44 18 29.0323 TAPBPL 0 genome.wustl.edu 37 12 6562381 6562381 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 6562381 6562381 C T SNP TAPBPL ENST00000266556 human ensembl 74_37 +1 known silent c.213 p.D71 0.744 NULL pfam_Ig_C1-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors TAPBPL HGNC ENSG00000139192 25 0 0 19 2 9.52381 PHB2 0 genome.wustl.edu 37 12 7076368 7076368 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 7076368 7076368 C T SNP PHB2 ENST00000399433 human ensembl 74_37 -1 known missense c.755 p.R252H 1.000 NULL pfam_Band_7,smart_Band_7,prints_Prohibitin - no_errors PHB2 HGNC ENSG00000215021 30 0 0 18 4 18.1818 NAV3 0 genome.wustl.edu 37 12 78415601 78415601 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 78415601 78415601 C T SNP NAV3 ENST00000397909 human ensembl 74_37 +1 known missense c.1982 p.S661L 0.973 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,superfamily_P-loop_NTPase,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 80 0 0 25 13 34.2105 CLLU1 0 genome.wustl.edu 37 12 92818809 92818809 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 92818809 92818809 G A SNP CLLU1 ENST00000378485 human ensembl 74_37 +1 known missense c.353 p.R118H 0.000 NULL NULL - no_errors CLLU1 HGNC ENSG00000257127 40 0 0 17 3 15 MYO16 0 genome.wustl.edu 37 13 109617206 109617206 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 13 109617206 109617206 G A SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known silent c.2259 p.V753 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 154 0 0 122 22 15.2778 TMEM255B 0 genome.wustl.edu 37 13 114514919 114514919 + RNA SNP A A T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 13 114514919 114514919 A T SNP TMEM255B ENST00000467169 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors TMEM255B HGNC ENSG00000184497 85 0 0 98 26 20.9677 PSPC1 0 genome.wustl.edu 37 13 20346569 20346569 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 13 20346569 20346569 G A SNP PSPC1 ENST00000338910 human ensembl 74_37 -1 known missense c.487 p.L163F 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom - no_errors PSPC1 HGNC ENSG00000121390 124 0 0 106 25 19.084 DCLK1 0 genome.wustl.edu 37 13 36379820 36379820 + RNA SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 13 36379820 36379820 G T SNP DCLK1 ENST00000486239 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors DCLK1 HGNC ENSG00000133083 138 0 0 139 36 20.5714 AHNAK2 0 genome.wustl.edu 37 14 105412999 105412999 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 14 105412999 105412999 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.8789 p.A2930V 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 421 0 0 171 116 40.4181 MDGA2 0 genome.wustl.edu 37 14 47426671 47426671 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 14 47426671 47426671 G A SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.1995 p.Y665 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 82 0 0 37 12 24.4898 TTLL5 0 genome.wustl.edu 37 14 76165590 76165590 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 14 76165590 76165590 C T SNP TTLL5 ENST00000298832 human ensembl 74_37 +1 known missense c.562 p.R188W 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL5 HGNC ENSG00000119685 62 0 0 18 9 33.3333 DNM1P47 0 genome.wustl.edu 37 15 102296140 102296140 + RNA SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 15 102296140 102296140 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors DNM1P47 HGNC ENSG00000259660 12 0 0 7 4 36.3636 ATP8B4 0 genome.wustl.edu 37 15 50152665 50152665 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 15 50152665 50152665 C T SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.3305 p.R1102Q 0.339 NULL pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 88 0 0 42 33 44 SYNGR3 0 genome.wustl.edu 37 16 2043051 2043051 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 16 2043051 2043051 G A SNP SYNGR3 ENST00000248121 human ensembl 74_37 +1 known missense c.668 p.G223E 1.000 pirsf_Synaptogyrin pfam_Marvel,pirsf_Synaptogyrin - no_errors SYNGR3 HGNC ENSG00000127561 30 0 0 32 10 23.8095 MYH13 0 genome.wustl.edu 37 17 10209864 10209864 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 10209864 10209864 G A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.5378 p.T1793M 0.998 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 198 0 0 81 37 31.3559 MYH13 0 genome.wustl.edu 37 17 10243522 10243522 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 10243522 10243522 C A SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.2001 p.R667S 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 MYH13 HGNC ENSG00000006788 41 0 0 12 12 50 RAI1 0 genome.wustl.edu 37 17 17697280 17697280 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 17697280 17697280 C T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known missense c.1018 p.P340S 1.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 178 0 0 130 71 35.3234 CCDC144CP 0 genome.wustl.edu 37 17 20224724 20224724 + RNA SNP A A T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 20224724 20224724 A T SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors CCDC144CP HGNC ENSG00000154898 86 0 0 68 23 25.2747 ACACA 0 genome.wustl.edu 37 17 35567388 35567388 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 35567388 35567388 G A SNP ACACA ENST00000353139 human ensembl 74_37 -1 known silent c.3700 p.L1234 1.000 pfam_AcCoA_COase_cen pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 86 0 0 42 9 17.6471 ACACA 0 genome.wustl.edu 37 17 35687327 35687327 + Missense_Mutation SNP A A C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 35687327 35687327 A C SNP ACACA ENST00000353139 human ensembl 74_37 -1 known missense c.124 p.S42A 0.112 NULL pfam_AcCoA_COase_cen,pfam_Carboxyl_trans,pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_lsu_N,pfam_Biotin_COase_C,pfam_Biotin_lipoyl,pfam_Dala_Dala_lig_C,pfam_ATP-grasp_carboxylate-amine,superfamily_PreATP-grasp_dom,superfamily_Rudment_hybrid_motif,superfamily_Single_hybrid_motif,smart_Biotin_COase_C,pfscan_ATP-grasp,pfscan_Biotin_carboxylation_dom,pfscan_COA_CT_N,pfscan_COA_CT_C,pfscan_Biotin_lipoyl - no_errors ACACA HGNC ENSG00000132142 126 0 0 1698 465 21.4979 TOP2A 0 genome.wustl.edu 37 17 38545839 38545839 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 38545839 38545839 C A SNP TOP2A ENST00000423485 human ensembl 74_37 -1 known missense c.4528 p.A1510S 0.988 pfam_DTHCT pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_HATPase_ATP-bd,superfamily_Topo_IIA_like_dom,superfamily_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_NFYB/HAP3 - no_errors TOP2A HGNC ENSG00000131747 23 0 0 220 16 6.77966 KRT39 0 genome.wustl.edu 37 17 39116589 39116589 + Silent SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 39116589 39116589 G T SNP KRT39 ENST00000355612 human ensembl 74_37 -1 known silent c.1161 p.S387 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT39 HGNC ENSG00000196859 157 0 0 1629 1458 47.2303 BZRAP1 0 genome.wustl.edu 37 17 56399716 56399716 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 56399716 56399716 G A SNP BZRAP1 ENST00000355701 human ensembl 74_37 -1 known missense c.1375 p.R459W 0.980 NULL pfam_SH3_2,superfamily_SH3_domain,superfamily_Fibronectin_type3,smart_SH3_domain,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_SH3_domain - no_errors BZRAP1 HGNC ENSG00000005379 112 0 0 75 20 21.0526 TP53 0 genome.wustl.edu 37 17 7579311 7579311 + Splice_Site SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 7579311 7579311 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known splice_site c.375+1 e3+1 1.000 - - - no_errors TP53 HGNC ENSG00000141510 103 0 0 24 75 75.7576 LAMA3 0 genome.wustl.edu 37 18 21531699 21531699 + Missense_Mutation SNP C C G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 18 21531699 21531699 C G SNP LAMA3 ENST00000313654 human ensembl 74_37 +1 known missense c.9694 p.P3232A 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Growth_fac_rcpt_N_dom,superfamily_Galactose-bd-like,superfamily_STAT_TF_coiled-coil,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA3 HGNC ENSG00000053747 43 0 0 28 9 24.3243 S1PR5 0 genome.wustl.edu 37 19 10624548 10624548 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 19 10624548 10624548 G A SNP S1PR5 ENST00000333430 human ensembl 74_37 -1 known silent c.1140 p.G380 0.715 prints_EDG8_S1P_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_EDG8_S1P_rcpt,prints_S1P_rcpt,prints_GPCR_Rhodpsn - no_errors S1PR5 HGNC ENSG00000180739 44 0 0 49 11 18.3333 LRRC4B 0 genome.wustl.edu 37 19 51021504 51021504 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 19 51021504 51021504 G A SNP LRRC4B ENST00000389201 human ensembl 74_37 -1 known missense c.1466 p.T489M 0.989 NULL pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRRC4B HGNC ENSG00000131409 23 0 0 14 6 30 ZNF134 0 genome.wustl.edu 37 19 58132648 58132648 + Silent SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 19 58132648 58132648 T C SNP ZNF134 ENST00000396161 human ensembl 74_37 +1 known silent c.1161 p.L387 0.731 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF134 HGNC ENSG00000213762 148 0 0 120 27 18.3673 FUT3 0 genome.wustl.edu 37 19 5844835 5844835 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 19 5844835 5844835 C T SNP FUT3 ENST00000303225 human ensembl 74_37 -1 known missense c.16 p.A6T 0.000 NULL pfam_Glyco_trans_10 - no_errors FUT3 HGNC ENSG00000171124 36 0 0 31 16 34.0426 MUC16 0 genome.wustl.edu 37 19 9074307 9074307 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 19 9074307 9074307 G T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.13139 p.T4380K 0.001 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 130 0 0 69 32 31.6832 TFCP2L1 0 genome.wustl.edu 37 2 122007204 122007204 + Silent SNP T T A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 122007204 122007204 T A SNP TFCP2L1 ENST00000263707 human ensembl 74_37 -1 known silent c.234 p.R78 0.073 pfam_CP2 pfam_CP2,superfamily_SAM/pointed - no_errors TFCP2L1 HGNC ENSG00000115112 115 1 0.862069 87 20 18.6916 ENSG00000213225 0 genome.wustl.edu 37 2 130989093 130989093 + RNA SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 130989093 130989093 C T SNP ENSG00000213225 ENST00000450578 human ensembl 74_37 +1 known rna NULL NULL 0.961 - - - no_errors AC018804.7 Clone_based_vega_gene ENSG00000213225 39 0 0 17 7 29.1667 LRP1B 0 genome.wustl.edu 37 2 142004919 142004919 + Missense_Mutation SNP T T G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 142004919 142004919 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.468 p.Q156H 1.000 superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom 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 165 0 0 90 29 24.3697 NEB 0 genome.wustl.edu 37 2 152554096 152554096 + Missense_Mutation SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 152554096 152554096 A G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.1219 p.F407L 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 84 0 0 77 17 18.0851 TTN 0 genome.wustl.edu 37 2 179469800 179469800 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 179469800 179469800 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.46400 p.A15467V 0.957 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 183 0 0 156 29 15.6757 TTN 0 genome.wustl.edu 37 2 179592983 179592983 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 179592983 179592983 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.15836 p.T5279K 0.546 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 45 0 0 46 5 9.80392 AOX1 0 genome.wustl.edu 37 2 201477352 201477352 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 201477352 201477352 C A SNP AOX1 ENST00000374700 human ensembl 74_37 +1 known missense c.1284 p.F428L 1.000 pfam_CO_DH_flav_C,superfamily_CO_DH_flav_C,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 117 0 0 117 32 21.4765 ABCA12 0 genome.wustl.edu 37 2 215843627 215843627 + Silent SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 215843627 215843627 T C SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.4878 p.K1626 0.965 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 119 0 0 80 54 40.2985 IGFBP2 0 genome.wustl.edu 37 2 217525405 217525405 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 217525405 217525405 G T SNP IGFBP2 ENST00000233809 human ensembl 74_37 +1 known missense c.568 p.V190L 0.993 NULL pfam_Thyroglobulin_1,pfam_IGFBP-like,superfamily_Thyroglobulin_1,superfamily_Growth_fac_rcpt_N_dom,smart_IGFBP-like,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1,prints_IGFBP_1-6_chordata,prints_IGFBP-2 - no_errors IGFBP2 HGNC ENSG00000115457 38 0 0 29 12 29.2683 FAM124B 0 genome.wustl.edu 37 2 225266407 225266407 + Missense_Mutation SNP T T A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 225266407 225266407 T A SNP FAM124B ENST00000409685 human ensembl 74_37 -1 known missense c.79 p.T27S 0.881 NULL NULL - no_errors FAM124B HGNC ENSG00000124019 65 0 0 80 20 20 DNER 0 genome.wustl.edu 37 2 230377546 230377546 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 230377546 230377546 G T SNP DNER ENST00000341772 human ensembl 74_37 -1 known missense c.1100 p.A367E 0.722 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 179 0 0 100 31 23.6641 ADCY3 0 genome.wustl.edu 37 2 25057468 25057468 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 25057468 25057468 G A SNP ADCY3 ENST00000260600 human ensembl 74_37 -1 known missense c.1853 p.P618L 0.976 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY3 HGNC ENSG00000138031 136 0 0 151 43 22.1649 PPP1R21 0 genome.wustl.edu 37 2 48687039 48687039 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 48687039 48687039 C T SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known silent c.522 p.N174 0.110 NULL pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 31 0 0 53 12 18.4615 CD207 0 genome.wustl.edu 37 2 71058830 71058830 + Splice_Site SNP A A T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 71058830 71058830 A T SNP CD207 ENST00000410009 human ensembl 74_37 -1 known splice_site c.836+2 e5+2 0.981 - - - no_errors CD207 HGNC ENSG00000116031 80 0 0 90 22 19.6429 FUNDC2P2 0 genome.wustl.edu 37 2 84518353 84518353 + RNA SNP G G C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 84518353 84518353 G C SNP FUNDC2P2 ENST00000331369 human ensembl 74_37 +1 known rna NULL NULL 0.351 - - - no_errors FUNDC2P2 HGNC ENSG00000182814 194 0 0 136 36 20.9302 SNPH 0 genome.wustl.edu 37 20 1281207 1281207 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 1281207 1281207 C T SNP SNPH ENST00000381867 human ensembl 74_37 +1 known missense c.292 p.R98C 1.000 NULL NULL - no_errors SNPH HGNC ENSG00000101298 45 0 0 82 15 15.4639 PDYN 0 genome.wustl.edu 37 20 1961277 1961277 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 1961277 1961277 C T SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.457 p.D153N 0.000 prints_Proenkphlin_B pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 123 0 0 258 33 11.3402 FRG1B 0 genome.wustl.edu 37 20 29612029 29612029 + RNA SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 29612029 29612029 G A SNP FRG1B ENST00000468180 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FRG1B HGNC ENSG00000149531 13 0 0 33 4 10.8108 XKR7 0 genome.wustl.edu 37 20 30556111 30556111 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 30556111 30556111 G A SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.133 p.A45T 0.980 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 9 0 0 28 6 17.6471 RALY 0 genome.wustl.edu 37 20 32661668 32661668 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 32661668 32661668 G A SNP RALY ENST00000246194 human ensembl 74_37 +1 known missense c.373 p.D125N 1.000 pirsf_hnRNP_C_Raly pfam_RRM_dom,smart_RRM_dom,pirsf_hnRNP_C_Raly,pfscan_RRM_dom - no_errors RALY HGNC ENSG00000125970 53 0 0 84 16 16 EPB41L1 0 genome.wustl.edu 37 20 34766563 34766563 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 34766563 34766563 C T SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known silent c.459 p.D153 0.998 pfam_FERM_N,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB_dom,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L1 HGNC ENSG00000088367 159 1 0.625 315 35 10 PTPRT 0 genome.wustl.edu 37 20 40944604 40944604 + Missense_Mutation SNP A A C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 40944604 40944604 A C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.1898 p.L633R 0.378 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 87 0 0 168 29 14.7208 TBC1D20 0 genome.wustl.edu 37 20 419300 419300 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 419300 419300 G A SNP TBC1D20 ENST00000354200 human ensembl 74_37 -1 known missense c.1142 p.A381V 1.000 NULL pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D20 HGNC ENSG00000125875 160 0 0 324 55 14.5119 R3HDML 0 genome.wustl.edu 37 20 42966005 42966005 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 42966005 42966005 C A SNP R3HDML ENST00000217043 human ensembl 74_37 +1 known missense c.208 p.H70N 1.000 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1 pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1 - no_errors R3HDML HGNC ENSG00000101074 82 0 0 143 18 11.1801 KCNG1 0 genome.wustl.edu 37 20 49620679 49620679 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 49620679 49620679 C T SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known missense c.1439 p.R480Q 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_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 73 0 0 120 15 11.1111 CYP24A1 0 genome.wustl.edu 37 20 52774694 52774694 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 52774694 52774694 C T SNP CYP24A1 ENST00000216862 human ensembl 74_37 -1 known silent c.1167 p.P389 0.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_CYP24A_mit,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP24A1 HGNC ENSG00000019186 59 0 0 78 13 14.2857 GNAS 0 genome.wustl.edu 37 20 57428581 57428581 + Missense_Mutation SNP A A C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 57428581 57428581 A C SNP GNAS ENST00000371100 human ensembl 74_37 +1 putative missense c.261 p.E87D 0.878 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GNAS HGNC ENSG00000087460 58 0 0 97 13 11.8182 COL6A2 0 genome.wustl.edu 37 21 47552191 47552191 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 21 47552191 47552191 G A SNP COL6A2 ENST00000300527 human ensembl 74_37 +1 known missense c.2785 p.V929M 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A2 HGNC ENSG00000142173 28 0 0 13 3 18.75 PCNT 0 genome.wustl.edu 37 21 47858216 47858216 + Missense_Mutation SNP T T A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 21 47858216 47858216 T A SNP PCNT ENST00000359568 human ensembl 74_37 +1 known missense c.9239 p.L3080Q 0.091 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 67 0 0 21 16 43.2432 RGL4 0 genome.wustl.edu 37 22 24034327 24034327 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 22 24034327 24034327 G A SNP RGL4 ENST00000290691 human ensembl 74_37 +1 known missense c.110 p.R37H 0.000 NULL pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RGL4 HGNC ENSG00000159496 138 0 0 117 32 21.4765 MICALL1 0 genome.wustl.edu 37 22 38313789 38313789 + Missense_Mutation SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 22 38313789 38313789 A G SNP MICALL1 ENST00000215957 human ensembl 74_37 +1 known missense c.413 p.E138G 0.672 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM - no_errors MICALL1 HGNC ENSG00000100139 95 0 0 69 19 21.5909 PICK1 0 genome.wustl.edu 37 22 38470942 38470942 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 22 38470942 38470942 G A SNP PICK1 ENST00000356976 human ensembl 74_37 +1 known missense c.1051 p.V351M 1.000 pfam_AH_dom,pfam_BAR_dom,pfscan_AH_dom pfam_AH_dom,pfam_PDZ,pfam_BAR_dom,superfamily_PDZ,smart_PDZ,pfscan_AH_dom,pfscan_PDZ - no_errors PICK1 HGNC ENSG00000100151 55 0 0 34 23 40.3509 ADSL 0 genome.wustl.edu 37 22 40745872 40745872 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 22 40745872 40745872 G A SNP ADSL ENST00000454266 human ensembl 74_37 +1 known missense c.190 p.E64K 1.000 superfamily_L-Aspartase-like,tigrfam_Pur_lyase pfam_Fumarate_lyase_N,pfam_AdenyloSucc_lyase_C,superfamily_L-Aspartase-like,prints_Fumarate_lyase_fam,tigrfam_Pur_lyase - no_errors ADSL HGNC ENSG00000239900 83 0 0 42 12 22.2222 SERHL 0 genome.wustl.edu 37 22 42905109 42905109 + RNA SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 22 42905109 42905109 T C SNP SERHL ENST00000359906 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SERHL HGNC ENSG00000172250 46 0 0 44 11 20 PANX2 0 genome.wustl.edu 37 22 50616205 50616205 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 22 50616205 50616205 G A SNP PANX2 ENST00000395842 human ensembl 74_37 +1 known missense c.1064 p.R355H 1.000 pfscan_Innexin pfam_Innexin,pfscan_Innexin - no_errors PANX2 HGNC ENSG00000073150 80 0 0 64 22 25.5814 FAM194A 0 genome.wustl.edu 37 3 150377783 150377783 + Missense_Mutation SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 150377783 150377783 A G SNP FAM194A ENST00000295910 human ensembl 74_37 -1 known missense c.1888 p.Y630H 1.000 NULL NULL - no_errors FAM194A HGNC ENSG00000163645 134 0 0 70 15 17.6471 BCHE 0 genome.wustl.edu 37 3 165547877 165547877 + Silent SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 165547877 165547877 T C SNP BCHE ENST00000264381 human ensembl 74_37 -1 known silent c.945 p.S315 0.001 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase - no_errors BCHE HGNC ENSG00000114200 88 0 0 31 12 27.907 LINC00969 0 genome.wustl.edu 37 3 195395399 195395399 + RNA SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 195395399 195395399 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 57 0 0 91 10 9.90099 LINC00969 0 genome.wustl.edu 37 3 195400728 195400728 + RNA SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 195400728 195400728 A G SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors LINC00969 HGNC ENSG00000242086 60 0 0 59 4 6.34921 KCNH8 0 genome.wustl.edu 37 3 19554711 19554711 + Missense_Mutation SNP A A C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 19554711 19554711 A C SNP KCNH8 ENST00000328405 human ensembl 74_37 +1 known missense c.2329 p.T777P 0.920 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_2pore_dom_K_chnl_dom,pfam_PAS_fold_3,pfam_PAS_4,pfam_PAS_fold,superfamily_cNMP-bd-like,superfamily_PAS,superfamily_tRNA-bd_arm,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_EAG,tigrfam_PAS - no_errors KCNH8 HGNC ENSG00000183960 120 0 0 49 24 32.8767 TRAK1 0 genome.wustl.edu 37 3 42264612 42264612 + Missense_Mutation SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 42264612 42264612 A G SNP TRAK1 ENST00000396175 human ensembl 74_37 +1 known missense c.2071 p.I691V 1.000 pfam_Traffickng_kinesin-bd_prot_dom pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 66 0 0 30 22 42.3077 CADPS 0 genome.wustl.edu 37 3 62459861 62459861 + Missense_Mutation SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 62459861 62459861 T C SNP CADPS ENST00000383710 human ensembl 74_37 -1 known missense c.3464 p.E1155G 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 120 0 0 41 15 26.7857 EMCN 0 genome.wustl.edu 37 4 101342536 101342536 + Splice_Site SNP T T G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 4 101342536 101342536 T G SNP EMCN ENST00000296420 human ensembl 74_37 -1 known splice_site c.569-2 e8-2 0.990 - - - no_errors EMCN HGNC ENSG00000164035 62 0 0 21 17 44.7368 FAT4 0 genome.wustl.edu 37 4 126412593 126412593 + Silent SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 4 126412593 126412593 A G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known silent c.14616 p.Q4872 1.000 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 97 0 0 33 19 36.5385 DCHS2 0 genome.wustl.edu 37 4 155254426 155254426 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 4 155254426 155254426 C T SNP DCHS2 ENST00000357232 human ensembl 74_37 -1 known silent c.1437 p.A479 0.000 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 107 0 0 43 30 41.0959 PIGG 0 genome.wustl.edu 37 4 502758 502758 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 4 502758 502758 C T SNP PIGG ENST00000453061 human ensembl 74_37 +1 known silent c.900 p.P300 0.952 superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core - no_errors PIGG HGNC ENSG00000174227 49 0 0 17 15 46.875 LRRC66 0 genome.wustl.edu 37 4 52862164 52862164 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 4 52862164 52862164 C T SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1024 p.G342S 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 48 0 0 19 4 17.3913 GRID2 0 genome.wustl.edu 37 4 94138146 94138146 + RNA SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 4 94138146 94138146 A G SNP GRID2 ENST00000505687 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors GRID2 HGNC ENSG00000152208 61 0 0 24 15 38.4615 MARCH6 0 genome.wustl.edu 37 5 10402501 10402501 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 5 10402501 10402501 G A SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known silent c.1059 p.L353 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 110 1 0.900901 28 20 41.6667 PCDHA8 0 genome.wustl.edu 37 5 140221992 140221992 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 5 140221992 140221992 C T SNP PCDHA8 ENST00000531613 human ensembl 74_37 +1 known silent c.1086 p.D362 0.964 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 193 0 0 76 35 31.5315 PCDHAC2 0 genome.wustl.edu 37 5 140348338 140348338 + Nonsense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 5 140348338 140348338 C T SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known nonsense c.1987 p.R663* 0.993 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 112 0 0 33 29 46.7742 FAM153C 0 genome.wustl.edu 37 5 177468720 177468720 + Missense_Mutation SNP C C G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 5 177468720 177468720 C G SNP FAM153C ENST00000507848 human ensembl 74_37 +1 known missense c.160 p.L54V 0.000 prints_FAM153 prints_FAM153 - no_errors FAM153C HGNC ENSG00000204677 142 0 0 16 5 23.8095 ZDHHC11B 0 genome.wustl.edu 37 5 766930 766930 + Silent SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 5 766930 766930 C T SNP ZDHHC11B ENST00000382776 human ensembl 74_37 -1 known silent c.105 p.S35 0.010 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC11B HGNC ENSG00000206077 62 0 0 59 19 24.359 SYNE1 0 genome.wustl.edu 37 6 152631870 152631870 + Nonsense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 6 152631870 152631870 G A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known nonsense c.16849 p.R5617* 0.724 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 51 0 0 16 4 20 PLG 0 genome.wustl.edu 37 6 161139469 161139469 + Missense_Mutation SNP C C G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 6 161139469 161139469 C G SNP PLG ENST00000308192 human ensembl 74_37 +1 known missense c.931 p.P311A 1.000 pirsf_Pept_S1A_plasmin,pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1 - no_errors PLG HGNC ENSG00000122194 118 0 0 104 30 22.3881 TUBB2A 0 genome.wustl.edu 37 6 3155237 3155237 + RNA SNP T T A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 6 3155237 3155237 T A SNP TUBB2A ENST00000489942 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TUBB2A HGNC ENSG00000137267 24 0 0 28 8 22.2222 HMGCLL1 0 genome.wustl.edu 37 6 55300436 55300436 + RNA SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 6 55300436 55300436 C T SNP HMGCLL1 ENST00000507223 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors HMGCLL1 HGNC ENSG00000146151 63 0 0 30 11 26.8293 DST 0 genome.wustl.edu 37 6 56347545 56347545 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 6 56347545 56347545 C T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.21245 p.R7082H 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 99 0 0 55 18 24.6575 FUT9 0 genome.wustl.edu 37 6 96651145 96651145 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 6 96651145 96651145 C A SNP FUT9 ENST00000302103 human ensembl 74_37 +1 known missense c.114 p.F38L 0.882 pfam_Glyco_trans_10 pfam_Glyco_trans_10 - no_errors FUT9 HGNC ENSG00000172461 123 1 0.806452 53 38 41.7582 PSMC2 0 genome.wustl.edu 37 7 102988185 102988185 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 102988185 102988185 G T SNP PSMC2 ENST00000292644 human ensembl 74_37 +1 known missense c.27 p.Q9H 1.000 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC2 HGNC ENSG00000161057 72 0 0 172 30 14.8515 GPER1 0 genome.wustl.edu 37 7 1132278 1132278 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 1132278 1132278 C A SNP GPER1 ENST00000297469 human ensembl 74_37 +1 known missense c.914 p.T305K 0.405 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPER1 HGNC ENSG00000164850 129 0 0 136 27 16.5644 AKR1B10 0 genome.wustl.edu 37 7 134215525 134215525 + Missense_Mutation SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 134215525 134215525 A G SNP AKR1B10 ENST00000359579 human ensembl 74_37 +1 known missense c.197 p.K66R 0.998 pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_Aldo/keto_reductase_subgr - no_errors AKR1B10 HGNC ENSG00000198074 133 0 0 178 34 16.0377 PRSS1 0 genome.wustl.edu 37 7 142459815 142459815 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 142459815 142459815 G A SNP PRSS1 ENST00000311737 human ensembl 74_37 +1 known missense c.391 p.A131T 0.026 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 PRSS1 HGNC ENSG00000204983 146 1 0.680272 235 26 9.96169 AGMO 0 genome.wustl.edu 37 7 15458194 15458194 + Missense_Mutation SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 15458194 15458194 T C SNP AGMO ENST00000342526 human ensembl 74_37 -1 known missense c.598 p.I200V 1.000 pfam_Fatty_acid_hydroxylase pfam_Fatty_acid_hydroxylase - no_errors AGMO HGNC ENSG00000187546 33 0 0 57 11 16.1765 RBM33 0 genome.wustl.edu 37 7 155457902 155457902 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 155457902 155457902 C T SNP RBM33 ENST00000401878 human ensembl 74_37 +1 known missense c.77 p.A26V 1.000 NULL smart_RRM_dom - no_errors RBM33 HGNC ENSG00000184863 77 0 0 53 13 19.697 SFRP4 0 genome.wustl.edu 37 7 37955825 37955825 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 37955825 37955825 G A SNP SFRP4 ENST00000436072 human ensembl 74_37 -1 known silent c.315 p.R105 1.000 pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain - no_errors SFRP4 HGNC ENSG00000106483 64 0 0 51 53 50.9615 GLI3 0 genome.wustl.edu 37 7 42004495 42004495 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 42004495 42004495 G T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.4176 p.S1392R 0.039 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 110 0 0 85 50 37.037 GLI3 0 genome.wustl.edu 37 7 42005385 42005385 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 42005385 42005385 C T SNP GLI3 ENST00000395925 human ensembl 74_37 -1 known missense c.3286 p.V1096M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI3 HGNC ENSG00000106571 128 0 0 177 29 14.0777 ABCA13 0 genome.wustl.edu 37 7 48314339 48314339 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 48314339 48314339 C A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.5076 p.F1692L 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 137 0 0 107 21 16.4062 ABCA13 0 genome.wustl.edu 37 7 48511147 48511147 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 48511147 48511147 G A SNP ABCA13 ENST00000435803 human ensembl 74_37 +1 known missense c.12926 p.R4309H 0.001 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 8 0 0 3 5 62.5 ZNF479 0 genome.wustl.edu 37 7 57187647 57187647 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 57187647 57187647 G T SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.1475 p.P492H 0.888 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 ZNF479 HGNC ENSG00000185177 67 0 0 45 20 30.7692 ZNF12 0 genome.wustl.edu 37 7 6731976 6731976 + Silent SNP A A G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 6731976 6731976 A G SNP ZNF12 ENST00000405858 human ensembl 74_37 -1 known silent c.597 p.Y199 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF12 HGNC ENSG00000164631 46 0 0 42 24 36.3636 PCLO 0 genome.wustl.edu 37 7 82578926 82578926 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 82578926 82578926 C A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.10978 p.D3660Y 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 277 0 0 295 58 16.4306 SAMD9 0 genome.wustl.edu 37 7 92732584 92732584 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 92732584 92732584 C T SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.2827 p.G943R 0.997 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 57 0 0 59 6 9.23077 SAMD9 0 genome.wustl.edu 37 7 92732585 92732585 + Silent SNP T T C TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 7 92732585 92732585 T C SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known silent c.2826 p.L942 0.917 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 58 0 0 60 6 9.09091 ADCY8 0 genome.wustl.edu 37 8 131793086 131793086 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 131793086 131793086 G A SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known silent c.3306 p.G1102 1.000 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 190 0 0 137 146 51.5901 FAM135B 0 genome.wustl.edu 37 8 139180179 139180179 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 139180179 139180179 G A SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1217 p.P406L 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 149 0 0 200 28 12.2807 COL22A1 0 genome.wustl.edu 37 8 139609182 139609182 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 139609182 139609182 C T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.4397 p.R1466Q 0.991 NULL pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 182 0 0 216 31 12.5506 KCNK9 0 genome.wustl.edu 37 8 140630778 140630778 + Missense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 140630778 140630778 C A SNP KCNK9 ENST00000303015 human ensembl 74_37 -1 known missense c.848 p.R283L 1.000 pirsf_2pore_dom_K_chnl_TASK pfam_2pore_dom_K_chnl_dom,pirsf_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl_TASK,prints_KCNK9,prints_2pore_dom_K_chnl - no_errors KCNK9 HGNC ENSG00000169427 80 0 0 117 21 15.2174 PLEC 0 genome.wustl.edu 37 8 144993781 144993781 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 144993781 144993781 C T SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.10619 p.R3540Q 0.132 pfam_Plectin_repeat,smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 48 0 0 84 26 23.6364 SLC25A37 0 genome.wustl.edu 37 8 23423697 23423697 + Missense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 23423697 23423697 G A SNP SLC25A37 ENST00000519973 human ensembl 74_37 +1 known missense c.287 p.R96Q 0.990 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A37 HGNC ENSG00000147454 41 0 0 62 10 13.8889 CYP7B1 0 genome.wustl.edu 37 8 65527645 65527645 + Missense_Mutation SNP T T G TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 65527645 65527645 T G SNP CYP7B1 ENST00000310193 human ensembl 74_37 -1 known missense c.995 p.K332T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450 - no_errors CYP7B1 HGNC ENSG00000172817 98 0 0 73 10 12.0482 PREX2 0 genome.wustl.edu 37 8 69020559 69020559 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 69020559 69020559 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known silent c.2931 p.S977 0.556 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 54 0 0 37 6 13.9535 ZFHX4 0 genome.wustl.edu 37 8 77618402 77618402 + Silent SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 77618402 77618402 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known silent c.2079 p.T693 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 61 0 0 84 13 13.4021 ZFHX4 0 genome.wustl.edu 37 8 77690512 77690512 + Nonsense_Mutation SNP C C A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 77690512 77690512 C A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known nonsense c.3162 p.Y1054* 1.000 smart_Znf_U1,smart_Znf_C2H2-like pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 168 1 0.591716 159 77 32.6271 ASTN2 0 genome.wustl.edu 37 9 119976675 119976675 + Missense_Mutation SNP C C T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 9 119976675 119976675 C T SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.977 p.G326E 0.992 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 163 0 0 80 34 29.8246 UBAC1 0 genome.wustl.edu 37 9 138831533 138831533 + Nonsense_Mutation SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 9 138831533 138831533 G A SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known nonsense c.949 p.Q317* 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 120 1 0.826446 45 26 36.6197 GLRA2 0 genome.wustl.edu 37 X 14708969 14708969 + Missense_Mutation SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b X 14708969 14708969 G T SNP GLRA2 ENST00000218075 human ensembl 74_37 +1 known missense c.1068 p.K356N 1.000 superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_A2,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 48 0 0 26 28 51.8519 FLNA 0 genome.wustl.edu 37 X 153586887 153586887 + Silent SNP G G T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b X 153586887 153586887 G T SNP FLNA ENST00000369850 human ensembl 74_37 -1 known silent c.4524 p.T1508 0.101 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNA HGNC ENSG00000196924 56 0 0 33 26 44.0678 IGBP1-AS2 0 genome.wustl.edu 37 X 69368554 69368554 + RNA SNP G G A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b X 69368554 69368554 G A SNP IGBP1-AS2 ENST00000403371 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors IGBP1-AS2 HGNC ENSG00000220925 17 0 0 3 5 62.5 KIAA2022 0 genome.wustl.edu 37 X 73963017 73963017 + Missense_Mutation SNP A A T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b X 73963017 73963017 A T SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.1375 p.C459S 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 66 0 0 30 19 38.7755 NOTCH2 0 genome.wustl.edu 37 1 120612003 120612004 + Frame_Shift_Del DEL GG GG - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 GG GG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 120612003 120612004 GG - DEL NOTCH2 ENST00000256646 human ensembl 74_37 -1 known frame_shift_del c.18_17 p.P6fs 0.101:0.700 pirsf_Notch pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 12 0 0 11 10 47.619 RPRD2 0 genome.wustl.edu 37 1 150445908 150445908 + RNA DEL T T - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 150445908 150445908 T - DEL RPRD2 ENST00000492220 human ensembl 74_37 +1 known rna NULL NULL 0.276 - - - no_errors RPRD2 HGNC ENSG00000163125 15 0 0 14 2 12.5 CFHR5 0 genome.wustl.edu 37 1 196963208 196963210 + Splice_Site DEL AGA AGA - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 196963208 196963210 AGA - DEL CFHR5 ENST00000367414 human ensembl 74_37 +1 known splice_site_del c.503-2_503-1 e4-1 0.905:0.918:0.897 - - - no_errors CFHR5 HGNC ENSG00000134389 73 0 0 63 27 30 MUL1 0 genome.wustl.edu 37 1 20827849 20827850 + Frame_Shift_Ins INS - - T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 1 20827849 20827850 - T INS MUL1 ENST00000264198 human ensembl 74_37 -1 known frame_shift_ins c.393_392 p.H131fs 0.956:1.000 pfam_MULAN pfam_MULAN,pfscan_Znf_RING - no_errors MUL1 HGNC ENSG00000090432 137 0 0 66 35 34.6535 EP400 0 genome.wustl.edu 37 12 132547093 132547094 + In_Frame_Ins INS - - CAG TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 12 132547093 132547094 - CAG INS EP400 ENST00000333577 human ensembl 74_37 +1 known in_frame_ins c.8289_8290 p.2767in_frame_insQ 0.900:0.920 NULL pfam_SNF2_N,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors EP400 HGNC ENSG00000183495 81 0 0 82 12 12.766 ATMIN 0 genome.wustl.edu 37 16 81075923 81075926 + Frame_Shift_Del DEL GTAG GTAG - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 GTAG GTAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 16 81075923 81075926 GTAG - DEL ATMIN ENST00000299575 human ensembl 74_37 +1 known frame_shift_del c.500_503 p.C167fs 1.000:0.444:0.444:0.415 smart_Znf_C2H2-like smart_Znf_C2H2-like - no_errors ATMIN HGNC ENSG00000166454 209 0 0 128 30 18.9873 TRIM37 0 genome.wustl.edu 37 17 57109355 57109364 + Frame_Shift_Del DEL AATGGATCAA AATGGATCAA - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 AATGGATCAA AATGGATCAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 17 57109355 57109364 AATGGATCAA - DEL TRIM37 ENST00000262294 human ensembl 74_37 -1 known frame_shift_del c.1850_1841 p.I614fs 1.000:0.996:0.988:1.000:1.000:1.000:1.000:1.000:0.998:1.000 NULL pfam_Znf_B-box,pfam_MATH,superfamily_TRAF-like,smart_Znf_B-box,smart_Bbox_C,smart_MATH,pfscan_MATH,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM37 HGNC ENSG00000108395 192 0 0 141 24 14.5455 LRP1B 0 genome.wustl.edu 37 2 141079617 141079617 + Frame_Shift_Del DEL G G - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 141079617 141079617 G - DEL LRP1B ENST00000389484 human ensembl 74_37 -1 known frame_shift_del c.12555 p.L4186fs 0.965 superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom 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 88 0 0 33 2 5.71429 MTERFD2 0 genome.wustl.edu 37 2 242035525 242035530 + In_Frame_Del DEL TCATCC TCATCC - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 TCATCC TCATCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 242035525 242035530 TCATCC - DEL MTERFD2 ENST00000241527 human ensembl 74_37 -1 known in_frame_del c.1034_1029 p.ED343in_frame_del 0.003:0.009:0.009:0.025:0.022:0.018 NULL pfam_Mit_transcrip_term-rel,smart_Mit_transcrip_term-rel - no_errors MTERFD2 HGNC ENSG00000122085 72 0 0 68 18 20.9302 EHBP1 0 genome.wustl.edu 37 2 63092028 63092029 + Frame_Shift_Ins INS - - A TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 2 63092028 63092029 - A INS EHBP1 ENST00000263991 human ensembl 74_37 +1 known frame_shift_ins c.1025_1026 p.N344fs 1.000:1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 93 0 0 96 18 15.7895 DEFB118 0 genome.wustl.edu 37 20 29960672 29960672 + Frame_Shift_Del DEL A A - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 20 29960672 29960672 A - DEL DEFB118 ENST00000253381 human ensembl 74_37 +1 known frame_shift_del c.71 p.K26fs 0.000 NULL NULL - no_errors DEFB118 HGNC ENSG00000131068 52 0 0 100 10 9.09091 TMEM39A 0 genome.wustl.edu 37 3 119165885 119165886 + Frame_Shift_Ins INS - - T TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 3 119165885 119165886 - T INS TMEM39A ENST00000319172 human ensembl 74_37 -1 known frame_shift_ins c.555_554 p.N185fs 1.000:1.000 pfam_Uncharacterised_TMEM39 pfam_Uncharacterised_TMEM39 - no_errors TMEM39A HGNC ENSG00000176142 86 0 0 25 31 55.3571 HSP90AA4P 0 genome.wustl.edu 37 4 190395839 190395839 + RNA DEL A A - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 4 190395839 190395839 A - DEL HSP90AA4P ENST00000378770 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors HSP90AA4P HGNC ENSG00000205100 22 0 0 10 6 37.5 ZFPM2 0 genome.wustl.edu 37 8 106815342 106815342 + Frame_Shift_Del DEL A A - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 8 106815342 106815342 A - DEL ZFPM2 ENST00000407775 human ensembl 74_37 +1 known frame_shift_del c.3032 p.N1012fs 0.862 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 72 0 0 51 15 22.7273 ADAMTSL1 0 genome.wustl.edu 37 9 18474284 18474284 + Frame_Shift_Del DEL C C - TCGA-BR-8483-01A-31D-2394-08 TCGA-BR-8483-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1d30fed9-42a2-4523-9ac6-651c6ff7415f 03d0314b-41e2-44e2-b2be-c9aa8c2eee2b 9 18474284 18474284 C - DEL ADAMTSL1 ENST00000327883 human ensembl 74_37 +1 known frame_shift_del c.54 p.L19fs 1.000 NULL pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL1 HGNC ENSG00000178031 155 0 0 57 19 25