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 MTOR 0 genome.wustl.edu 37 1 11204807 11204807 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 11204807 11204807 C G SNP MTOR ENST00000361445 human ensembl 74_37 -1 known missense c.4770 p.M1590I 1.000 pfam_PIK-rel_kinase_FAT,pfscan_PIK_FAT pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors MTOR HGNC ENSG00000198793 74 0 0 36 3 7.69231 ENSG00000203849 0 genome.wustl.edu 37 1 142621039 142621039 + RNA SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 142621039 142621039 C T SNP ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 23 0 0 22 4 15.3846 CA14 0 genome.wustl.edu 37 1 150234696 150234696 + Silent SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 150234696 150234696 A C SNP CA14 ENST00000369111 human ensembl 74_37 +1 known silent c.396 p.A132 0.995 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA14 HGNC ENSG00000118298 159 1 0.625 94 63 40.1274 ADAMTSL4 0 genome.wustl.edu 37 1 150529980 150529980 + Silent SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 150529980 150529980 C A SNP ADAMTSL4 ENST00000369039 human ensembl 74_37 +1 known silent c.2127 p.R709 0.999 superfamily_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt - no_errors ADAMTSL4 HGNC ENSG00000143382 22 0 0 19 2 9.52381 CLK2 0 genome.wustl.edu 37 1 155235680 155235680 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 155235680 155235680 C G SNP CLK2 ENST00000368361 human ensembl 74_37 -1 known missense c.904 p.D302H 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CLK2 HGNC ENSG00000176444 139 0 0 146 42 22.3404 KIRREL 0 genome.wustl.edu 37 1 158064804 158064804 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 158064804 158064804 C T SNP KIRREL ENST00000368173 human ensembl 74_37 +1 known missense c.2216 p.A739V 0.982 NULL pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL HGNC ENSG00000183853 32 0 0 15 8 34.7826 DARC 0 genome.wustl.edu 37 1 159176045 159176045 + Silent SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 159176045 159176045 G T SNP DARC ENST00000368121 human ensembl 74_37 +1 known silent c.822 p.L274 0.000 NULL prints_Duffy_chemokine_rcpt - no_errors DARC HGNC ENSG00000213088 157 0 0 147 55 27.2277 RNPEP 0 genome.wustl.edu 37 1 201965357 201965357 + Missense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 201965357 201965357 G A SNP RNPEP ENST00000295640 human ensembl 74_37 +1 known missense c.820 p.G274R 0.992 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,pfam_Peptidase_M1_C,superfamily_ARM-type_fold,prints_Peptidase_M1_N - no_errors RNPEP HGNC ENSG00000176393 178 0 0 188 58 23.5772 PGBD5 0 genome.wustl.edu 37 1 230498095 230498095 + Silent SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 230498095 230498095 C T SNP PGBD5 ENST00000321327 human ensembl 74_37 -1 known silent c.345 p.E115 0.016 NULL NULL - no_errors PGBD5 HGNC ENSG00000177614 21 0 0 18 28 60.8696 CLIC4 0 genome.wustl.edu 37 1 25153587 25153587 + Nonsense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 25153587 25153587 C G SNP CLIC4 ENST00000374379 human ensembl 74_37 +1 known nonsense c.395 p.S132* 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC4 HGNC ENSG00000169504 111 0 0 23 47 67.1429 ZMYM6 0 genome.wustl.edu 37 1 35452793 35452793 + Missense_Mutation SNP T T C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 35452793 35452793 T C SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known missense c.3890 p.K1297R 1.000 NULL pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 61 0 0 16 19 54.2857 GJA9 0 genome.wustl.edu 37 1 39341225 39341225 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 39341225 39341225 G C SNP GJA9 ENST00000357771 human ensembl 74_37 -1 known missense c.546 p.H182Q 0.992 pfam_Connexin_CCC pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin - no_errors GJA9 HGNC ENSG00000131233 97 0 0 31 44 58.6667 IL23R 0 genome.wustl.edu 37 1 67724851 67724851 + RNA SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 67724851 67724851 A C SNP IL23R ENST00000473881 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IL23R HGNC ENSG00000162594 27 0 0 26 16 38.0952 FPGT-TNNI3K 0 genome.wustl.edu 37 1 74664041 74664041 + Silent SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 74664041 74664041 A C SNP FPGT-TNNI3K ENST00000557284 human ensembl 74_37 +1 known silent c.118 p.R40 0.916 NULL pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors FPGT-TNNI3K HGNC ENSG00000259030 28 0 0 25 11 30.5556 ZNHIT6 0 genome.wustl.edu 37 1 86123656 86123656 + Splice_Site SNP T T G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 1 86123656 86123656 T G SNP ZNHIT6 ENST00000370574 human ensembl 74_37 -1 known splice_site c.1248-2 e9-2 0.998 - - - no_errors ZNHIT6 HGNC ENSG00000117174 30 0 0 15 15 50 ZNF33A 0 genome.wustl.edu 37 10 38305806 38305806 + Missense_Mutation SNP A A G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 10 38305806 38305806 A G SNP ZNF33A ENST00000432900 human ensembl 74_37 +1 known missense c.38 p.Q13R 0.880 superfamily_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF33A HGNC ENSG00000189180 63 0 0 65 6 8.4507 AGAP6 0 genome.wustl.edu 37 10 51768695 51768695 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 10 51768695 51768695 G T SNP AGAP6 ENST00000374056 human ensembl 74_37 +1 known missense c.741 p.E247D 0.992 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 318 3 0.934579 173 115 39.9306 IFIT1B 0 genome.wustl.edu 37 10 91143104 91143104 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 10 91143104 91143104 G C SNP IFIT1B ENST00000371809 human ensembl 74_37 +1 known missense c.34 p.D12H 0.015 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFIT1B HGNC ENSG00000204010 91 0 0 53 28 34.5679 B4GALNT4 0 genome.wustl.edu 37 11 379952 379952 + Missense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 379952 379952 G A SNP B4GALNT4 ENST00000329962 human ensembl 74_37 +1 known missense c.2575 p.V859I 0.986 pfam_Chond_GalNAc pfam_Chond_GalNAc,pfam_PA14,smart_PA14 - no_errors B4GALNT4 HGNC ENSG00000182272 28 0 0 20 9 31.0345 ZNF408 0 genome.wustl.edu 37 11 46726634 46726634 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 46726634 46726634 C T SNP ZNF408 ENST00000311764 human ensembl 74_37 +1 known missense c.1384 p.P462S 0.075 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF408 HGNC ENSG00000175213 42 0 0 29 16 35.5556 NR1H3 0 genome.wustl.edu 37 11 47282926 47282926 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 47282926 47282926 G T SNP NR1H3 ENST00000441012 human ensembl 74_37 +1 known missense c.634 p.G212C 1.000 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Ecdystd_rcpt - no_errors NR1H3 HGNC ENSG00000025434 48 0 0 30 25 45.4545 OR5F1 0 genome.wustl.edu 37 11 55761793 55761793 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 55761793 55761793 G T SNP OR5F1 ENST00000278409 human ensembl 74_37 -1 known missense c.309 p.F103L 0.002 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 OR5F1 HGNC ENSG00000149133 143 0 0 83 41 33.0645 TRIM22 0 genome.wustl.edu 37 11 5730579 5730579 + Nonsense_Mutation SNP A A T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 5730579 5730579 A T SNP TRIM22 ENST00000379965 human ensembl 74_37 +1 known nonsense c.1198 p.R400* 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM22 HGNC ENSG00000132274 82 0 0 45 28 38.3562 SYT7 0 genome.wustl.edu 37 11 61300595 61300595 + Silent SNP A A G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 61300595 61300595 A G SNP SYT7 ENST00000263846 human ensembl 74_37 -1 known silent c.217 p.L73 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT7 HGNC ENSG00000011347 51 0 0 28 13 31.7073 CDHR5 0 genome.wustl.edu 37 11 618098 618098 + Silent SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 618098 618098 C T SNP CDHR5 ENST00000358353 human ensembl 74_37 -1 known silent c.1974 p.S658 0.000 NULL superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin - no_errors CDHR5 HGNC ENSG00000099834 20 0 0 14 13 48.1481 MYO7A 0 genome.wustl.edu 37 11 76925670 76925670 + Missense_Mutation SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 11 76925670 76925670 C A SNP MYO7A ENST00000409709 human ensembl 74_37 +1 known missense c.6577 p.L2193I 1.000 pfscan_FERM_domain pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_FERM_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7A HGNC ENSG00000137474 14 0 0 10 2 16.6667 BTBD11 0 genome.wustl.edu 37 12 108045467 108045467 + Missense_Mutation SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 108045467 108045467 A C SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known missense c.3008 p.K1003T 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 37 0 0 25 19 43.1818 NOS1 0 genome.wustl.edu 37 12 117657958 117657958 + Silent SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 117657958 117657958 G C SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.4092 p.L1364 1.000 pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 177 0 0 179 59 24.7899 RNF10 0 genome.wustl.edu 37 12 121013630 121013630 + Missense_Mutation SNP A A G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 121013630 121013630 A G SNP RNF10 ENST00000413266 human ensembl 74_37 +1 known missense c.2251 p.S751G 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF10 HGNC ENSG00000022840 350 0 0 189 187 49.734 OGFOD2 0 genome.wustl.edu 37 12 123463763 123463763 + Missense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 123463763 123463763 G A SNP OGFOD2 ENST00000228922 human ensembl 74_37 +1 known missense c.923 p.R308Q 0.998 smart_Pro_4_hyd_alph smart_Pro_4_hyd_alph - no_errors OGFOD2 HGNC ENSG00000111325 39 0 0 19 27 58.6957 TMEM132C 0 genome.wustl.edu 37 12 128899732 128899732 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 128899732 128899732 G T SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.541 p.V181L 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 21 0 0 15 18 54.5455 KRAS 0 genome.wustl.edu 37 12 25398281 25398281 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 25398281 25398281 C T SNP KRAS ENST00000256078 human ensembl 74_37 -1 known missense c.38 p.G13D 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors KRAS HGNC ENSG00000133703 26 0 0 7 19 73.0769 KMT2D 0 genome.wustl.edu 37 12 49424548 49424548 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 49424548 49424548 G C SNP KMT2D ENST00000301067 human ensembl 74_37 -1 known missense c.13675 p.L4559V 1.000 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2D HGNC ENSG00000167548 55 0 0 38 33 46.4789 TESPA1 0 genome.wustl.edu 37 12 55356379 55356379 + Nonsense_Mutation SNP T T A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 12 55356379 55356379 T A SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known nonsense c.1303 p.K435* 0.988 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 175 0 0 139 59 29.798 DCT 0 genome.wustl.edu 37 13 95118904 95118904 + Missense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 13 95118904 95118904 G A SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.604 p.R202C 1.000 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 57 0 0 33 14 29.7872 HS6ST3 0 genome.wustl.edu 37 13 96743492 96743492 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 13 96743492 96743492 C T SNP HS6ST3 ENST00000376705 human ensembl 74_37 +1 known missense c.376 p.R126C 0.995 superfamily_P-loop_NTPase pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors HS6ST3 HGNC ENSG00000185352 14 0 0 7 3 30 EXOC3L4 0 genome.wustl.edu 37 14 103566569 103566569 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 14 103566569 103566569 C G SNP EXOC3L4 ENST00000380069 human ensembl 74_37 +1 known missense c.13 p.Q5E 0.000 NULL pfam_Sec6 - no_errors EXOC3L4 HGNC ENSG00000205436 12 0 0 13 5 27.7778 TRIM9 0 genome.wustl.edu 37 14 51448802 51448802 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 14 51448802 51448802 G C SNP TRIM9 ENST00000338969 human ensembl 74_37 -1 known missense c.1866 p.D622E 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Fibronectin_type3,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM9 HGNC ENSG00000100505 44 0 0 30 20 40 RPL13AP3 0 genome.wustl.edu 37 14 56233336 56233336 + RNA SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 14 56233336 56233336 G T SNP RPL13AP3 ENST00000494676 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RPL13AP3 HGNC ENSG00000177350 25 0 0 12 8 40 RYR3 0 genome.wustl.edu 37 15 33878223 33878223 + Missense_Mutation SNP T T A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 15 33878223 33878223 T A SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.1694 p.I565N 1.000 pfam_Ca-rel_channel,prints_Ryan_recept pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 74 0 0 59 7 10.6061 SHC4 0 genome.wustl.edu 37 15 49254628 49254628 + Missense_Mutation SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 15 49254628 49254628 C A SNP SHC4 ENST00000332408 human ensembl 74_37 -1 known missense c.585 p.R195S 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom,prints_PID_Shc-like pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC4 HGNC ENSG00000185634 71 0 0 34 2 5.55556 IDH3A 0 genome.wustl.edu 37 15 78454614 78454614 + Silent SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 15 78454614 78454614 C T SNP IDH3A ENST00000299518 human ensembl 74_37 +1 known silent c.516 p.T172 0.838 pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD - no_errors IDH3A HGNC ENSG00000166411 58 0 0 22 28 56 RRN3 0 genome.wustl.edu 37 16 15155664 15155664 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 15155664 15155664 G T SNP RRN3 ENST00000198767 human ensembl 74_37 -1 known missense c.1893 p.F631L 0.955 NULL pfam_RNA_pol_I_trans_ini_fac_RRN3,superfamily_ARM-type_fold - no_errors RRN3 HGNC ENSG00000085721 48 0 0 33 17 34 DNAH3 0 genome.wustl.edu 37 16 20975848 20975848 + Nonsense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 20975848 20975848 G A SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known nonsense c.9358 p.Q3120* 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 185 0 0 120 72 37.5 ADCY9 0 genome.wustl.edu 37 16 4164838 4164838 + Silent SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 4164838 4164838 G A SNP ADCY9 ENST00000294016 human ensembl 74_37 -1 known silent c.606 p.G202 0.002 NULL pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY9 HGNC ENSG00000162104 50 0 0 52 19 26.7606 BRD7 0 genome.wustl.edu 37 16 50354623 50354623 + Silent SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 50354623 50354623 C A SNP BRD7 ENST00000394689 human ensembl 74_37 -1 known silent c.1566 p.L522 0.975 pfam_DUF3512 pfam_DUF3512,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors BRD7 HGNC ENSG00000166164 210 1 0.473934 141 97 40.7563 CES5A 0 genome.wustl.edu 37 16 55899941 55899941 + Silent SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 55899941 55899941 G A SNP CES5A ENST00000521992 human ensembl 74_37 -1 known silent c.726 p.F242 0.992 pfam_CarbesteraseB,pfam_AB_hydrolase_3 pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CES5A HGNC ENSG00000159398 47 0 0 25 21 45.6522 HYDIN 0 genome.wustl.edu 37 16 70934955 70934955 + Nonsense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 70934955 70934955 G T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative nonsense c.9000 p.Y3000* 0.989 superfamily_PapD-like superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 163 1 0.609756 121 30 19.8675 ZNF19 0 genome.wustl.edu 37 16 71512174 71512174 + Silent SNP T T A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 71512174 71512174 T A SNP ZNF19 ENST00000288177 human ensembl 74_37 -1 known silent c.231 p.A77 0.963 pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF19 HGNC ENSG00000157429 46 0 0 21 11 34.375 KCNG4 0 genome.wustl.edu 37 16 84270603 84270603 + Silent SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 16 84270603 84270603 C A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known silent c.489 p.R163 0.041 superfamily_BTB/POZ_fold,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,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 KCNG4 HGNC ENSG00000168418 34 0 0 27 12 30.7692 UBB 0 genome.wustl.edu 37 17 16285491 16285491 + Silent SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 17 16285491 16285491 C T SNP UBB ENST00000302182 human ensembl 74_37 +1 novel silent c.270 p.T90 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBB HGNC ENSG00000170315 140 0 0 76 4 5 UBB 0 genome.wustl.edu 37 17 16285497 16285497 + Silent SNP A A G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 17 16285497 16285497 A G SNP UBB ENST00000302182 human ensembl 74_37 +1 novel silent c.276 p.E92 1.000 pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,pfscan_Ubiquitin_supergroup pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,smart_Ubiquitin_dom,prints_Ubiquitin,pfscan_Ubiquitin_supergroup - no_errors UBB HGNC ENSG00000170315 144 1 0.689655 74 4 5.12821 ITGB3 0 genome.wustl.edu 37 17 45362061 45362061 + Missense_Mutation SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 17 45362061 45362061 A C SNP ITGB3 ENST00000559488 human ensembl 74_37 +1 known missense c.614 p.D205A 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,prints_Integrin_bsu - no_errors ITGB3 HGNC ENSG00000259207 182 0 0 163 13 7.38636 MIB1 0 genome.wustl.edu 37 18 19418419 19418419 + Silent SNP T T G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 18 19418419 19418419 T G SNP MIB1 ENST00000261537 human ensembl 74_37 +1 known silent c.1923 p.L641 0.971 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 64 0 0 43 35 44.8718 SMAD4 0 genome.wustl.edu 37 18 48591919 48591919 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 18 48591919 48591919 G C SNP SMAD4 ENST00000342988 human ensembl 74_37 +1 known missense c.1082 p.R361P 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD4 HGNC ENSG00000141646 63 0 0 18 34 65.3846 PCSK4 0 genome.wustl.edu 37 19 1481839 1481839 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 1481839 1481839 C T SNP PCSK4 ENST00000300954 human ensembl 74_37 -1 known missense c.2187 p.M729I 0.000 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK4 HGNC ENSG00000115257 17 0 0 8 7 46.6667 UNC13A 0 genome.wustl.edu 37 19 17738735 17738735 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 17738735 17738735 C T SNP UNC13A ENST00000428389 human ensembl 74_37 -1 known missense c.4032 p.M1344I 1.000 NULL pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13A HGNC ENSG00000130477 631 1 0.158228 395 234 37.2019 ZNF607 0 genome.wustl.edu 37 19 38190035 38190035 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 38190035 38190035 C G SNP ZNF607 ENST00000355202 human ensembl 74_37 -1 known missense c.997 p.G333R 0.992 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF607 HGNC ENSG00000198182 158 0 0 115 47 29.0123 RYR1 0 genome.wustl.edu 37 19 38968395 38968395 + Missense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 38968395 38968395 G A SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.4339 p.V1447M 1.000 pfam_SPRY_rcpt,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 59 0 0 28 20 41.6667 SPTBN4 0 genome.wustl.edu 37 19 41003482 41003482 + Missense_Mutation SNP T T A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 41003482 41003482 T A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.755 p.L252Q 1.000 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 53 0 0 43 21 32.8125 CREB3L3 0 genome.wustl.edu 37 19 4159760 4159760 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 4159760 4159760 C T SNP CREB3L3 ENST00000078445 human ensembl 74_37 +1 known missense c.557 p.S186L 0.145 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors CREB3L3 HGNC ENSG00000060566 61 0 0 36 18 33.3333 ATP5SL 0 genome.wustl.edu 37 19 41938220 41938220 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 41938220 41938220 C G SNP ATP5SL ENST00000417807 human ensembl 74_37 -1 known missense c.708 p.E236D 0.577 NULL NULL - no_errors ATP5SL HGNC ENSG00000105341 65 0 0 39 18 31.5789 SLC8A2 0 genome.wustl.edu 37 19 47969322 47969322 + Silent SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 47969322 47969322 G A SNP SLC8A2 ENST00000236877 human ensembl 74_37 -1 known silent c.339 p.N113 0.518 pfam_NaCa_Exmemb,tigrfam_Na_Ca_Ex pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex - no_errors SLC8A2 HGNC ENSG00000118160 47 0 0 50 6 10.7143 FCGRT 0 genome.wustl.edu 37 19 50017644 50017644 + Missense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 50017644 50017644 G A SNP FCGRT ENST00000221466 human ensembl 74_37 +1 known missense c.502 p.D168N 0.000 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors FCGRT HGNC ENSG00000104870 12 0 0 7 3 30 RRAS 0 genome.wustl.edu 37 19 50138991 50138991 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 50138991 50138991 C G SNP RRAS ENST00000246792 human ensembl 74_37 -1 known missense c.572 p.R191P 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RRAS HGNC ENSG00000126458 63 0 0 44 16 26.6667 CLEC11A 0 genome.wustl.edu 37 19 51228703 51228703 + Silent SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 51228703 51228703 C T SNP CLEC11A ENST00000250340 human ensembl 74_37 +1 known silent c.951 p.Y317 0.995 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC11A HGNC ENSG00000105472 16 0 0 4 5 55.5556 NEB 0 genome.wustl.edu 37 2 152581987 152581987 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 2 152581987 152581987 C G SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.382 p.V128L 1.000 pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_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 124 0 0 97 38 28.1481 ZDBF2 0 genome.wustl.edu 37 2 207175935 207175935 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 2 207175935 207175935 C T SNP ZDBF2 ENST00000374423 human ensembl 74_37 +1 known missense c.6683 p.S2228L 0.006 NULL pfam_Znf_DBF,smart_Znf_DBF - no_errors ZDBF2 HGNC ENSG00000204186 27 0 0 27 11 28.9474 CPS1 0 genome.wustl.edu 37 2 211507237 211507237 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 2 211507237 211507237 G T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3007 p.V1003F 1.000 pfam_CarbamoylP_synth_lsu_N,superfamily_PreATP-grasp_dom,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 82 0 0 53 26 32.9114 KCNG3 0 genome.wustl.edu 37 2 42671708 42671708 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 2 42671708 42671708 G C SNP KCNG3 ENST00000306078 human ensembl 74_37 -1 known missense c.677 p.A226G 1.000 pfam_Ion_trans_dom,prints_K_chnl 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_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG3 HGNC ENSG00000171126 130 0 0 87 50 36.4964 EPB41L1 0 genome.wustl.edu 37 20 34797562 34797562 + Missense_Mutation SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 20 34797562 34797562 C A SNP EPB41L1 ENST00000338074 human ensembl 74_37 +1 known missense c.1821 p.S607R 1.000 pirsf_Band_41_protein 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 42 0 0 29 11 27.5 RTFDC1 0 genome.wustl.edu 37 20 55048432 55048432 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 20 55048432 55048432 G C SNP RTFDC1 ENST00000357348 human ensembl 74_37 +1 known missense c.235 p.V79L 1.000 pfam_Rtf2_RING-finger pfam_Rtf2_RING-finger - no_errors RTFDC1 HGNC ENSG00000022277 72 0 0 46 27 36.9863 CDH4 0 genome.wustl.edu 37 20 60503257 60503257 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 20 60503257 60503257 C T SNP CDH4 ENST00000360469 human ensembl 74_37 +1 known missense c.1781 p.P594L 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Cadherin/Desmocollin - no_errors CDH4 HGNC ENSG00000179242 83 0 0 52 29 35.8025 FAM3B 0 genome.wustl.edu 37 21 42710319 42710319 + Silent SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 21 42710319 42710319 A C SNP FAM3B ENST00000357985 human ensembl 74_37 +1 known silent c.178 p.R60 1.000 NULL NULL - no_errors FAM3B HGNC ENSG00000183844 169 0 0 103 56 35.2201 PI4KA 0 genome.wustl.edu 37 22 21106010 21106010 + Silent SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 22 21106010 21106010 C A SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known silent c.3021 p.L1007 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 52 0 0 29 2 6.45161 SLC7A4 0 genome.wustl.edu 37 22 21385414 21385414 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 22 21385414 21385414 C T SNP SLC7A4 ENST00000382932 human ensembl 74_37 -1 known missense c.688 p.A230T 1.000 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 pfam_AA-permease/SLC12A_dom,pirsf_AA/rel_permease1 - no_errors SLC7A4 HGNC ENSG00000099960 50 0 0 20 27 57.4468 ENSG00000206532 0 genome.wustl.edu 37 3 110612008 110612008 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 3 110612008 110612008 C G SNP ENSG00000206532 ENST00000383686 human ensembl 74_37 -1 known missense c.202 p.D68H 0.000 NULL NULL - no_errors RP11-553A10.1 Clone_based_vega_gene ENSG00000206532 13 0 0 7 4 36.3636 SATB1 0 genome.wustl.edu 37 3 18391129 18391129 + Missense_Mutation SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 3 18391129 18391129 G A SNP SATB1 ENST00000417717 human ensembl 74_37 -1 known missense c.1921 p.P641S 0.581 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB1 HGNC ENSG00000182568 8 0 0 11 5 31.25 GOLGA4 0 genome.wustl.edu 37 3 37368748 37368748 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 3 37368748 37368748 C G SNP GOLGA4 ENST00000361924 human ensembl 74_37 +1 known missense c.5371 p.Q1791E 0.597 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,superfamily_t-SNARE,superfamily_Prefoldin,smart_GRIP,pfscan_GRIP - no_errors GOLGA4 HGNC ENSG00000144674 164 0 0 99 49 33.1081 VPRBP 0 genome.wustl.edu 37 3 51458366 51458366 + Silent SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 3 51458366 51458366 G A SNP VPRBP ENST00000335891 human ensembl 74_37 -1 known silent c.711 p.I237 1.000 superfamily_ARM-type_fold superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors VPRBP HGNC ENSG00000145041 196 0 0 126 89 41.3953 ARAP2 0 genome.wustl.edu 37 4 36189098 36189098 + Silent SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 4 36189098 36189098 A C SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known silent c.1653 p.T551 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 41 0 0 32 3 8.57143 AMBN 0 genome.wustl.edu 37 4 71468517 71468517 + Silent SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 4 71468517 71468517 C A SNP AMBN ENST00000322937 human ensembl 74_37 +1 known silent c.573 p.L191 0.000 pfam_Amelin,smart_Amelin pfam_Amelin,smart_Amelin - no_errors AMBN HGNC ENSG00000178522 23 0 0 27 2 6.89655 MARCH6 0 genome.wustl.edu 37 5 10411480 10411480 + Missense_Mutation SNP A A T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 10411480 10411480 A T SNP MARCH6 ENST00000274140 human ensembl 74_37 +1 known missense c.1727 p.E576V 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 64 0 0 72 19 20.8791 APC 0 genome.wustl.edu 37 5 112174631 112174631 + Nonsense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 112174631 112174631 C T SNP APC ENST00000257430 human ensembl 74_37 +1 known nonsense c.3340 p.R1114* 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 94 0 0 29 24 45.283 SLC6A18 0 genome.wustl.edu 37 5 1243688 1243688 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 1243688 1243688 C G SNP SLC6A18 ENST00000324642 human ensembl 74_37 +1 known missense c.1150 p.L384V 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A18 HGNC ENSG00000164363 36 0 0 25 15 37.5 PCDHB8 0 genome.wustl.edu 37 5 140558485 140558485 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 140558485 140558485 C G SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.870 p.S290R 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 151 0 0 78 43 35.5372 HRH2 0 genome.wustl.edu 37 5 175110463 175110463 + Missense_Mutation SNP C C A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 175110463 175110463 C A SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.227 p.A76D 0.997 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT6_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 100 0 0 76 24 24 NUP155 0 genome.wustl.edu 37 5 37342678 37342678 + Missense_Mutation SNP A A T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 37342678 37342678 A T SNP NUP155 ENST00000231498 human ensembl 74_37 -1 known missense c.1066 p.C356S 1.000 pfam_Nucleoporin_Nup133/Nup155_N pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom - no_errors NUP155 HGNC ENSG00000113569 59 0 0 20 12 37.5 RAB3C 0 genome.wustl.edu 37 5 58021913 58021913 + Missense_Mutation SNP A A T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 58021913 58021913 A T SNP RAB3C ENST00000282878 human ensembl 74_37 +1 known missense c.337 p.T113S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB3C HGNC ENSG00000152932 115 0 0 92 44 32.3529 CMYA5 0 genome.wustl.edu 37 5 79034978 79034978 + Missense_Mutation SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 79034978 79034978 A C SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.10390 p.N3464H 0.042 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 73 0 0 44 24 35.2941 VCAN 0 genome.wustl.edu 37 5 82876239 82876239 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 82876239 82876239 G C SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.10177 p.E3393Q 1.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 43 0 0 26 17 39.5349 ELL2 0 genome.wustl.edu 37 5 95278749 95278749 + Nonsense_Mutation SNP A A T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 5 95278749 95278749 A T SNP ELL2 ENST00000237853 human ensembl 74_37 -1 known nonsense c.152 p.L51* 1.000 pfam_RNA_pol_II_elong_fac_ELL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL2 HGNC ENSG00000118985 25 0 0 26 16 38.0952 MED23 0 genome.wustl.edu 37 6 131914216 131914216 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 6 131914216 131914216 C T SNP MED23 ENST00000368058 human ensembl 74_37 -1 known missense c.3346 p.V1116M 1.000 pfam_Mediator_Med23 pfam_Mediator_Med23 - no_errors MED23 HGNC ENSG00000112282 90 0 0 22 36 62.069 SYNE1 0 genome.wustl.edu 37 6 152644706 152644706 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 6 152644706 152644706 G T SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.15824 p.T5275N 0.982 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 39 0 0 22 3 12 CDKAL1 0 genome.wustl.edu 37 6 20846367 20846367 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 6 20846367 20846367 C G SNP CDKAL1 ENST00000274695 human ensembl 74_37 +1 known missense c.700 p.P234A 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase pfam_Methylthiotransferase_N,pfam_rSAM,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB-like_B,tigrfam_Methylthiotransferase - no_errors CDKAL1 HGNC ENSG00000145996 75 0 0 56 46 45.098 OR2J2 0 genome.wustl.edu 37 6 29141694 29141694 + Silent SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 6 29141694 29141694 G A SNP OR2J2 ENST00000377167 human ensembl 74_37 +1 known silent c.282 p.S94 0.050 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2J2 HGNC ENSG00000204700 187 0 0 160 50 23.8095 CDYL 0 genome.wustl.edu 37 6 4935819 4935819 + Silent SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 6 4935819 4935819 G C SNP CDYL ENST00000328908 human ensembl 74_37 +1 known silent c.924 p.V308 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 123 0 0 116 52 30.9524 GSTA5 0 genome.wustl.edu 37 6 52701078 52701078 + Silent SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 6 52701078 52701078 G C SNP GSTA5 ENST00000284562 human ensembl 74_37 -1 known silent c.228 p.A76 0.992 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_alpha - no_errors GSTA5 HGNC ENSG00000182793 222 0 0 206 51 19.8444 FBXO24 0 genome.wustl.edu 37 7 100192033 100192033 + Missense_Mutation SNP T T C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 7 100192033 100192033 T C SNP FBXO24 ENST00000427939 human ensembl 74_37 +1 known missense c.935 p.V312A 1.000 superfamily_RCC1/BLIP-II pfam_F-box_dom,pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 69 0 0 48 25 34.2466 MUC17 0 genome.wustl.edu 37 7 100686417 100686417 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 7 100686417 100686417 C T SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.11720 p.T3907I 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 139 0 0 80 40 33.3333 GPR37 0 genome.wustl.edu 37 7 124386683 124386683 + Missense_Mutation SNP T T G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 7 124386683 124386683 T G SNP GPR37 ENST00000303921 human ensembl 74_37 -1 known missense c.1738 p.S580R 1.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR37_orph,prints_GPCR_Rhodpsn - no_errors GPR37 HGNC ENSG00000170775 175 0 0 103 37 26.4286 ADCY8 0 genome.wustl.edu 37 8 132052171 132052171 + Missense_Mutation SNP T T G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 8 132052171 132052171 T G SNP ADCY8 ENST00000286355 human ensembl 74_37 -1 known missense c.409 p.S137R 1.000 NULL 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 13 0 0 18 4 18.1818 TEX15 0 genome.wustl.edu 37 8 30699691 30699691 + Silent SNP A A T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 8 30699691 30699691 A T SNP TEX15 ENST00000256246 human ensembl 74_37 -1 known silent c.6843 p.P2281 0.005 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 47 0 0 38 19 33.3333 OSR2 0 genome.wustl.edu 37 8 99961741 99961741 + Silent SNP G G A TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 8 99961741 99961741 G A SNP OSR2 ENST00000457907 human ensembl 74_37 +1 known silent c.924 p.L308 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors OSR2 HGNC ENSG00000164920 196 0 0 141 55 28.0612 ALAD 0 genome.wustl.edu 37 9 116151266 116151266 + Missense_Mutation SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 9 116151266 116151266 G T SNP ALAD ENST00000409155 human ensembl 74_37 -1 known missense c.922 p.R308S 1.000 pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth - no_errors ALAD HGNC ENSG00000148218 54 0 0 38 6 13.6364 TNFSF15 0 genome.wustl.edu 37 9 117568086 117568086 + Missense_Mutation SNP G G C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 9 117568086 117568086 G C SNP TNFSF15 ENST00000374045 human ensembl 74_37 -1 known missense c.207 p.F69L 0.060 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF15 HGNC ENSG00000181634 37 0 0 14 16 53.3333 LOC100996870 0 genome.wustl.edu 37 9 66457330 66457330 + RNA SNP G G T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 9 66457330 66457330 G T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.200 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 26 0 0 26 4 13.3333 TLR7 0 genome.wustl.edu 37 X 12906522 12906522 + Missense_Mutation SNP A A C TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d X 12906522 12906522 A C SNP TLR7 ENST00000380659 human ensembl 74_37 +1 known missense c.2895 p.E965D 0.179 pfam_TIR_dom,superfamily_TIR_dom,smart_TIR_dom,pfscan_TIR_dom pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR7 HGNC ENSG00000196664 154 0 0 37 130 77.8443 ELF4 0 genome.wustl.edu 37 X 129208703 129208703 + Missense_Mutation SNP C C G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d X 129208703 129208703 C G SNP ELF4 ENST00000308167 human ensembl 74_37 -1 known missense c.100 p.A34P 1.000 pfam_TF_Elf_N pfam_TF_Elf_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELF4 HGNC ENSG00000102034 45 0 0 10 24 70.5882 GRIPAP1 0 genome.wustl.edu 37 X 48837686 48837686 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d X 48837686 48837686 C T SNP GRIPAP1 ENST00000376441 human ensembl 74_37 -1 known missense c.1871 p.R624Q 1.000 NULL superfamily_Prefoldin - no_errors GRIPAP1 HGNC ENSG00000068400 18 0 0 5 14 73.6842 WDR45 0 genome.wustl.edu 37 X 48934155 48934155 + Missense_Mutation SNP A A G TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d X 48934155 48934155 A G SNP WDR45 ENST00000322995 human ensembl 74_37 -1 known missense c.370 p.Y124H 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR45 HGNC ENSG00000196998 72 0 0 61 6 8.95522 AKAP4 0 genome.wustl.edu 37 X 49957932 49957932 + Missense_Mutation SNP C C T TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d X 49957932 49957932 C T SNP AKAP4 ENST00000358526 human ensembl 74_37 -1 known missense c.1432 p.D478N 0.114 pfam_AKAP_110_C,smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP4 HGNC ENSG00000147081 87 0 0 22 64 74.4186 DOCK6 0 genome.wustl.edu 37 19 11343974 11343976 + In_Frame_Del DEL GGT GGT - TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 GGT GGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 19 11343974 11343976 GGT - DEL DOCK6 ENST00000294618 human ensembl 74_37 -1 known in_frame_del c.2623_2621 p.Y874in_frame_del 1.000:0.997:0.996 NULL pfam_DOCK_C,pfam_DOCK_C/D_N - no_errors DOCK6 HGNC ENSG00000130158 25 0 0 15 2 11.7647 PRUNE2 0 genome.wustl.edu 37 9 79461440 79461458 + Frame_Shift_Del DEL GATGAGCCAGTTGCTCGGT GATGAGCCAGTTGCTCGGT - TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 GATGAGCCAGTTGCTCGGT GATGAGCCAGTTGCTCGGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 9 79461440 79461458 GATGAGCCAGTTGCTCGGT - DEL PRUNE2 ENST00000376718 human ensembl 74_37 -1 novel frame_shift_del c.499_481 p.T161fs 1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:0.988:0.790:1.000:1.000 NULL pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,pfam_DHHA2,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors PRUNE2 HGNC ENSG00000106772 77 0 0 45 3 6.25 TLE4 0 genome.wustl.edu 37 9 82335151 82335163 + Frame_Shift_Del DEL CATGCTGCAGCGA CATGCTGCAGCGA - TCGA-BR-4267-01A-01D-1126-08 TCGA-BR-4267-11A-01D-1126-08 CATGCTGCAGCGA CATGCTGCAGCGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a28c27a6-9a08-4262-bb11-28b611e84d29 50fe780e-876b-46e8-87c3-9f7315fa8c7d 9 82335151 82335163 CATGCTGCAGCGA - DEL TLE4 ENST00000376520 human ensembl 74_37 +1 known frame_shift_del c.1877_1889 p.C627fs 1.000:0.406:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.280:1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 61 0 0 42 7 14.2857