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 SPRR2F 0 genome.wustl.edu 37 1 153085229 153085229 + Splice_Site SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 1 153085229 153085229 C T SNP SPRR2F ENST00000468739 human ensembl 74_37 -1 known splice_site c.1-1 e1-1 0.998 - - - no_errors SPRR2F HGNC ENSG00000244094 70 0 0 58 5 7.93651 LY9 0 genome.wustl.edu 37 1 160783561 160783561 + Missense_Mutation SNP A A G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 1 160783561 160783561 A G SNP LY9 ENST00000263285 human ensembl 74_37 +1 known missense c.590 p.H197R 0.009 pfscan_Ig-like_dom smart_Ig_sub,pfscan_Ig-like_dom - no_errors LY9 HGNC ENSG00000122224 165 1 0.60241 134 15 10.0671 PPP1R15B 0 genome.wustl.edu 37 1 204380537 204380537 + Missense_Mutation SNP C C G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 1 204380537 204380537 C G SNP PPP1R15B ENST00000367188 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 pfam_Prot_Pase1_reg-su15B_N pfam_Prot_Pase1_reg-su15B_N,pfam_Prot_Pase1_reg-su15A/B_C - no_errors PPP1R15B HGNC ENSG00000158615 95 0 0 66 6 8.33333 EXO1 0 genome.wustl.edu 37 1 242016726 242016726 + Silent SNP A A G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 1 242016726 242016726 A G SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known silent c.348 p.R116 1.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 124 0 0 79 30 27.5229 MED8 0 genome.wustl.edu 37 1 43851858 43851858 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 1 43851858 43851858 G A SNP MED8 ENST00000290663 human ensembl 74_37 -1 known missense c.533 p.T178I 1.000 pfam_Mediatior_Med8_fun/met pfam_Mediatior_Med8_fun/met - no_errors MED8 HGNC ENSG00000159479 127 0 0 69 12 14.8148 TACSTD2 0 genome.wustl.edu 37 1 59042472 59042472 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 1 59042472 59042472 G A SNP TACSTD2 ENST00000371225 human ensembl 74_37 -1 known silent c.357 p.C119 1.000 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors TACSTD2 HGNC ENSG00000184292 12 0 0 13 3 18.75 CPN1 0 genome.wustl.edu 37 10 101829528 101829528 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 10 101829528 101829528 G A SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known silent c.519 p.N173 0.809 pfam_Peptidase_M14,pfam_DUF2817,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 141 0 0 75 35 31.8182 MTPAP 0 genome.wustl.edu 37 10 30615481 30615481 + Missense_Mutation SNP T T G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 10 30615481 30615481 T G SNP MTPAP ENST00000358107 human ensembl 74_37 -1 known missense c.1254 p.L418F 0.988 NULL pfam_PAP_assoc - no_errors MTPAP HGNC ENSG00000107951 205 0 0 214 56 20.7407 MMP20 0 genome.wustl.edu 37 11 102496027 102496027 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 11 102496027 102496027 G A SNP MMP20 ENST00000260228 human ensembl 74_37 -1 known silent c.24 p.G8 0.990 pirsf_Pept_M10A_Metazoans pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP20 HGNC ENSG00000137674 77 0 0 90 27 23.0769 MMP8 0 genome.wustl.edu 37 11 102584178 102584178 + Missense_Mutation SNP A A T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 11 102584178 102584178 A T SNP MMP8 ENST00000236826 human ensembl 74_37 -1 known missense c.1305 p.H435Q 0.985 pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP8 HGNC ENSG00000118113 87 0 0 83 51 38.0597 DYNC2H1 0 genome.wustl.edu 37 11 103270478 103270478 + Missense_Mutation SNP A A T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 11 103270478 103270478 A T SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.12265 p.N4089Y 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 75 0 0 69 34 33.0097 FLI1 0 genome.wustl.edu 37 11 128680436 128680436 + Silent SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 11 128680436 128680436 G T SNP FLI1 ENST00000527786 human ensembl 74_37 +1 known silent c.912 p.G304 0.942 pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors FLI1 HGNC ENSG00000151702 21 0 0 18 11 37.931 CKAP5 0 genome.wustl.edu 37 11 46799806 46799806 + Missense_Mutation SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 11 46799806 46799806 C A SNP CKAP5 ENST00000415402 human ensembl 74_37 -1 known missense c.2631 p.R877S 1.000 pfam_CLASP_N_dom,superfamily_ARM-type_fold pfam_CLASP_N_dom,pfam_HEAT,superfamily_ARM-type_fold,superfamily_Homing_endonucl,pfscan_HEAT_type_2 - no_errors CKAP5 HGNC ENSG00000175216 101 0 0 95 28 22.7642 FOXN4 0 genome.wustl.edu 37 12 109719324 109719324 + Silent SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 12 109719324 109719324 C A SNP FOXN4 ENST00000299162 human ensembl 74_37 -1 known silent c.1182 p.P394 0.848 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXN4 HGNC ENSG00000139445 39 0 0 19 10 34.4828 LRRK2 0 genome.wustl.edu 37 12 40671789 40671789 + Missense_Mutation SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 12 40671789 40671789 T C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2041 p.S681P 0.127 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 89 0 0 61 7 10.2941 DBX2 0 genome.wustl.edu 37 12 45444623 45444623 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 12 45444623 45444623 C T SNP DBX2 ENST00000332700 human ensembl 74_37 -1 known missense c.88 p.G30S 0.487 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DBX2 HGNC ENSG00000185610 15 0 0 9 3 25 COL4A1 0 genome.wustl.edu 37 13 110861227 110861227 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 13 110861227 110861227 C T SNP COL4A1 ENST00000375820 human ensembl 74_37 -1 known missense c.662 p.G221D 1.000 pfam_Collagen pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC - no_errors COL4A1 HGNC ENSG00000187498 132 0 0 72 32 30.7692 SLC12A1 0 genome.wustl.edu 37 15 48527094 48527094 + Missense_Mutation SNP T T G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 15 48527094 48527094 T G SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.1108 p.F370V 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 116 0 0 63 20 24.0964 SCNN1B 0 genome.wustl.edu 37 16 23366787 23366787 + Silent SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 16 23366787 23366787 C T SNP SCNN1B ENST00000307331 human ensembl 74_37 +1 known silent c.888 p.F296 0.763 pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC - no_errors SCNN1B HGNC ENSG00000168447 58 0 0 40 5 11.1111 SLC5A2 0 genome.wustl.edu 37 16 31500611 31500611 + Missense_Mutation SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 16 31500611 31500611 C A SNP SLC5A2 ENST00000419665 human ensembl 74_37 +1 known missense c.1297 p.P433T 0.986 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A2 HGNC ENSG00000140675 34 0 0 22 4 15.3846 NOS2 0 genome.wustl.edu 37 17 26105786 26105786 + Missense_Mutation SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 17 26105786 26105786 T C SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.1211 p.H404R 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 121 0 0 66 25 27.4725 ALOX12 0 genome.wustl.edu 37 17 6902654 6902654 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 17 6902654 6902654 G A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.676 p.E226K 0.991 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 98 0 0 48 17 26.1538 TP53 0 genome.wustl.edu 37 17 7578271 7578271 + Missense_Mutation SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 17 7578271 7578271 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.578 p.H193R 0.998 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 66 0 0 25 6 19.3548 FAM129C 0 genome.wustl.edu 37 19 17641671 17641671 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 19 17641671 17641671 G A SNP FAM129C ENST00000335393 human ensembl 74_37 +1 known missense c.256 p.G86R 0.006 NULL smart_Pleckstrin_homology - no_errors FAM129C HGNC ENSG00000167483 56 0 0 49 16 24.6154 TBXA2R 0 genome.wustl.edu 37 19 3600596 3600596 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 19 3600596 3600596 G A SNP TBXA2R ENST00000411851 human ensembl 74_37 -1 known missense c.37 p.R13W 1.000 prints_Thbox_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thbox_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn - no_errors TBXA2R HGNC ENSG00000006638 39 0 0 26 11 29.7297 MATK 0 genome.wustl.edu 37 19 3789316 3789316 + Missense_Mutation SNP T T A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 19 3789316 3789316 T A SNP MATK ENST00000395045 human ensembl 74_37 -1 known missense c.30 p.R10S 0.001 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors MATK HGNC ENSG00000007264 59 0 0 27 17 38.6364 ZNF665 0 genome.wustl.edu 37 19 53669357 53669357 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 19 53669357 53669357 C T SNP ZNF665 ENST00000396424 human ensembl 74_37 -1 known missense c.386 p.R129K 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 ZNF665 HGNC ENSG00000197497 227 0 0 150 45 23.0769 PXDN 0 genome.wustl.edu 37 2 1643143 1643143 + Missense_Mutation SNP C C G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 2 1643143 1643143 C G SNP PXDN ENST00000252804 human ensembl 74_37 -1 known missense c.4004 p.R1335T 0.129 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDN HGNC ENSG00000130508 59 0 0 49 11 18.3333 SP100 0 genome.wustl.edu 37 2 231379989 231379989 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 2 231379989 231379989 G T SNP SP100 ENST00000264052 human ensembl 74_37 +1 known missense c.2274 p.E758D 1.000 superfamily_HMG_box_dom pfam_Sp100,pfam_SAND_dom,pfam_HMG_box_dom,superfamily_SAND_dom-like,superfamily_HMG_box_dom,smart_SAND_dom,smart_HMG_box_dom,pfscan_SAND_dom,pfscan_HMG_box_dom - no_errors SP100 HGNC ENSG00000067066 117 0 0 75 28 27.1845 IGSF11 0 genome.wustl.edu 37 3 118645024 118645024 + Silent SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 3 118645024 118645024 C T SNP IGSF11 ENST00000393775 human ensembl 74_37 -1 known silent c.504 p.E168 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGSF11 HGNC ENSG00000144847 75 0 0 62 14 18.4211 ARHGAP31 0 genome.wustl.edu 37 3 119112366 119112366 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 3 119112366 119112366 C T SNP ARHGAP31 ENST00000264245 human ensembl 74_37 +1 known missense c.934 p.R312C 1.000 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP31 HGNC ENSG00000031081 133 0 0 93 27 22.5 TMCC1 0 genome.wustl.edu 37 3 129389972 129389972 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 3 129389972 129389972 G T SNP TMCC1 ENST00000393238 human ensembl 74_37 -1 known missense c.712 p.Q238K 1.000 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC1 HGNC ENSG00000172765 230 0 0 183 46 20.0873 SCN11A 0 genome.wustl.edu 37 3 38941492 38941492 + Nonsense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 3 38941492 38941492 G A SNP SCN11A ENST00000302328 human ensembl 74_37 -1 known nonsense c.1915 p.R639* 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 43 0 0 25 13 34.2105 HHATL 0 genome.wustl.edu 37 3 42735277 42735277 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 3 42735277 42735277 G A SNP HHATL ENST00000310417 human ensembl 74_37 -1 known silent c.1080 p.S360 0.010 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors HHATL HGNC ENSG00000010282 67 0 0 28 8 22.2222 REST 0 genome.wustl.edu 37 4 57797479 57797479 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 4 57797479 57797479 G T SNP REST ENST00000309042 human ensembl 74_37 +1 known missense c.2455 p.D819Y 0.137 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors REST HGNC ENSG00000084093 205 0 0 146 48 24.7423 PCDHGA1 0 genome.wustl.edu 37 5 140712464 140712464 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 5 140712464 140712464 C T SNP PCDHGA1 ENST00000517417 human ensembl 74_37 +1 known missense c.2213 p.S738L 0.221 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA1 HGNC ENSG00000204956 105 0 0 71 24 25.2632 GPRIN1 0 genome.wustl.edu 37 5 176026581 176026581 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 5 176026581 176026581 G T SNP GPRIN1 ENST00000303991 human ensembl 74_37 -1 known missense c.255 p.D85E 0.257 NULL NULL - no_errors GPRIN1 HGNC ENSG00000169258 89 0 0 36 12 25 ADAMTS12 0 genome.wustl.edu 37 5 33561157 33561157 + Missense_Mutation SNP C C A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 5 33561157 33561157 C A SNP ADAMTS12 ENST00000504830 human ensembl 74_37 -1 known missense c.4100 p.G1367V 0.895 smart_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS12 HGNC ENSG00000151388 174 0 0 106 16 13.1148 GPR98 0 genome.wustl.edu 37 5 89938526 89938526 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 5 89938526 89938526 C T SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.2314 p.P772S 1.000 smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 196 1 0.507614 133 41 23.5632 CDK14 0 genome.wustl.edu 37 7 90747439 90747439 + Missense_Mutation SNP C C T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 7 90747439 90747439 C T SNP CDK14 ENST00000380050 human ensembl 74_37 +1 known missense c.1354 p.R452W 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK14 HGNC ENSG00000058091 95 0 0 113 9 7.37705 TG 0 genome.wustl.edu 37 8 133900554 133900554 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 8 133900554 133900554 G A SNP TG ENST00000220616 human ensembl 74_37 +1 known silent c.2502 p.P834 0.002 superfamily_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1 - no_errors TG HGNC ENSG00000042832 107 0 0 69 18 20.6897 FAM110B 0 genome.wustl.edu 37 8 59059521 59059521 + Silent SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 8 59059521 59059521 G T SNP FAM110B ENST00000361488 human ensembl 74_37 +1 known silent c.732 p.V244 0.999 NULL NULL - no_errors FAM110B HGNC ENSG00000169122 127 0 0 90 48 34.7826 RGAG1 0 genome.wustl.edu 37 X 109695526 109695526 + Silent SNP T T C TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 X 109695526 109695526 T C SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.1681 p.L561 0.001 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 158 1 0.628931 135 40 22.8571 THOC2 0 genome.wustl.edu 37 X 122744807 122744807 + Missense_Mutation SNP A A G TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 X 122744807 122744807 A G SNP THOC2 ENST00000245838 human ensembl 74_37 -1 known missense c.4762 p.S1588P 1.000 NULL pfam_THO_THOC2_C,pfam_THO_THOC2_N - no_errors THOC2 HGNC ENSG00000125676 58 0 0 59 10 14.4928 GABRQ 0 genome.wustl.edu 37 X 151808925 151808925 + Missense_Mutation SNP G G T TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 X 151808925 151808925 G T SNP GABRQ ENST00000370306 human ensembl 74_37 +1 known missense c.236 p.G79V 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRQ HGNC ENSG00000147402 217 0 0 182 31 14.554 P2RY8 0 genome.wustl.edu 37 X 1585140 1585140 + Silent SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 X 1585140 1585140 G A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known silent c.312 p.Y104 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 60 0 0 47 5 9.61538 STARD8 0 genome.wustl.edu 37 X 67943490 67943490 + Missense_Mutation SNP G G A TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 X 67943490 67943490 G A SNP STARD8 ENST00000374599 human ensembl 74_37 +1 known missense c.2822 p.R941Q 0.838 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD8 HGNC ENSG00000130052 17 0 0 8 3 27.2727 ARID1A 0 genome.wustl.edu 37 1 27101266 27101266 + Frame_Shift_Del DEL T T - TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 1 27101266 27101266 T - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.4548 p.A1517fs 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 124 0 0 82 15 15.4639 VIPAS39 0 genome.wustl.edu 37 14 77910667 77910668 + Frame_Shift_Del DEL TC TC - TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 TC TC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 14 77910667 77910668 TC - DEL VIPAS39 ENST00000343765 human ensembl 74_37 -1 known frame_shift_del c.522_521 p.R174fs 0.999:1.000 pfam_Golgin_subfamily_A_member_5 pfam_Golgin_subfamily_A_member_5 - no_errors VIPAS39 HGNC ENSG00000151445 68 0 0 36 16 30.7692 KMT2B 0 genome.wustl.edu 37 19 36229073 36229075 + In_Frame_Del DEL AGA AGA - TCGA-BR-6456-01A-11D-1800-08 TCGA-BR-6456-10A-01D-1800-08 AGA AGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq c612570a-881d-421f-98b9-0e4563133744 0adf6445-5470-4b30-923f-5028bdd471b3 19 36229073 36229075 AGA - DEL KMT2B ENST00000222270 human ensembl 74_37 +1 known in_frame_del c.7853_7855 p.K2619in_frame_del 1.000:1.000:1.000 pirsf_MeTrfase_trithorax,pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC - no_errors KMT2B Uniprot_gn ENSG00000272333 56 0 0 39 19 32.7586