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 NGF 0 genome.wustl.edu 37 1 115828920 115828920 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 115828920 115828920 T G SNP NGF ENST00000369512 human ensembl 74_37 -1 known missense c.497 p.N166T 1.000 pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel pirsf_Nerve_growth_factor-like,pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,prints_Nerve_growth_factor-rel,prints_Nerve_growth_factor_bsu_mml,prints_Nerve_growth_factor_bsu,pfscan_Nerve_growth_factor-rel - no_errors NGF HGNC ENSG00000134259 190 0 0 147 19 11.4458 PRAMEF1 0 genome.wustl.edu 37 1 12855688 12855688 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 12855688 12855688 A C SNP PRAMEF1 ENST00000332296 human ensembl 74_37 +1 known missense c.968 p.K323T 0.000 NULL NULL - no_errors PRAMEF1 HGNC ENSG00000116721 231 0 0 267 33 11 POGZ 0 genome.wustl.edu 37 1 151384863 151384863 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 151384863 151384863 T G SNP POGZ ENST00000271715 human ensembl 74_37 -1 known missense c.1688 p.K563T 1.000 smart_Znf_C2H2-like pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2 - no_errors POGZ HGNC ENSG00000143442 99 0 0 103 15 12.7119 TCHH 0 genome.wustl.edu 37 1 152080591 152080591 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 152080591 152080591 C T SNP TCHH ENST00000368804 human ensembl 74_37 -1 known missense c.5102 p.R1701H 0.005 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors TCHH HGNC ENSG00000159450 209 0 0 202 22 9.82143 SH2D2A 0 genome.wustl.edu 37 1 156779580 156779580 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 156779580 156779580 A G SNP SH2D2A ENST00000392306 human ensembl 74_37 -1 known missense c.617 p.L206P 0.707 NULL pfam_SH2,smart_SH2,pfscan_SH2 - no_errors SH2D2A HGNC ENSG00000027869 238 0 0 187 25 11.7925 FCRL3 0 genome.wustl.edu 37 1 157668201 157668201 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 157668201 157668201 C T SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.271 p.D91N 0.999 smart_Ig_sub,pfscan_Ig-like_dom pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 149 0 0 120 13 9.77444 GPATCH2 0 genome.wustl.edu 37 1 217793304 217793304 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 217793304 217793304 G A SNP GPATCH2 ENST00000366935 human ensembl 74_37 -1 known silent c.594 p.A198 0.001 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH2 HGNC ENSG00000092978 211 0 0 187 17 8.33333 ZP4 0 genome.wustl.edu 37 1 238049070 238049070 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 238049070 238049070 A C SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known missense c.956 p.L319R 0.970 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 92 0 0 65 6 8.4507 OR2L8 0 genome.wustl.edu 37 1 248113081 248113081 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 248113081 248113081 T C SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known missense c.922 p.C308R 0.330 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 79 0 0 66 9 12 MEGF6 0 genome.wustl.edu 37 1 3427384 3427384 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 3427384 3427384 G A SNP MEGF6 ENST00000356575 human ensembl 74_37 -1 known silent c.1197 p.A399 0.404 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_EGF_laminin,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF_laminin,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MEGF6 HGNC ENSG00000162591 73 0 0 58 5 7.93651 DLGAP3 0 genome.wustl.edu 37 1 35369893 35369893 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 35369893 35369893 A G SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known silent c.1092 p.T364 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 115 0 0 104 17 14.0496 MRPS15 0 genome.wustl.edu 37 1 36926911 36926911 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 36926911 36926911 A G SNP MRPS15 ENST00000373116 human ensembl 74_37 -1 known missense c.254 p.V85A 1.000 NULL pfam_Ribosomal_S15,superfamily_S15_NS1_RNA-bd - no_errors MRPS15 HGNC ENSG00000116898 61 0 0 56 6 9.67742 ZFP69B 0 genome.wustl.edu 37 1 40929053 40929053 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 40929053 40929053 A G SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known missense c.1397 p.Q466R 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 73 0 0 48 5 9.43396 PGM1 0 genome.wustl.edu 37 1 64100648 64100648 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 64100648 64100648 G A SNP PGM1 ENST00000371083 human ensembl 74_37 +1 known silent c.885 p.K295 1.000 pfam_A-D-PHexomutase_a/b/a-II pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 264 0 0 213 19 8.18966 PER3 0 genome.wustl.edu 37 1 7886602 7886602 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 7886602 7886602 T C SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.1996 p.S666P 0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 50 0 0 37 4 9.7561 WDR63 0 genome.wustl.edu 37 1 85551632 85551632 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 1 85551632 85551632 A C SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.659 p.N220T 0.989 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 56 0 0 71 9 11.25 CPN1 0 genome.wustl.edu 37 10 101802248 101802248 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 101802248 101802248 T G SNP CPN1 ENST00000370418 human ensembl 74_37 -1 known missense c.1313 p.K438T 0.887 superfamily_CarboxyPept-like_regulatory pfam_Peptidase_M14,pfam_DUF2817,superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPN1 HGNC ENSG00000120054 91 0 0 93 8 7.92079 NOLC1 0 genome.wustl.edu 37 10 103919991 103919991 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 103919991 103919991 T G SNP NOLC1 ENST00000405356 human ensembl 74_37 +1 known missense c.1020 p.D340E 1.000 NULL pfam_SRP40_C,pfscan_LisH_dimerisation - no_errors NOLC1 HGNC ENSG00000166197 172 0 0 130 18 12.1622 TRIM8 0 genome.wustl.edu 37 10 104416988 104416988 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 104416988 104416988 C T SNP TRIM8 ENST00000302424 human ensembl 74_37 +1 known silent c.1533 p.S511 0.856 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors TRIM8 HGNC ENSG00000171206 44 0 0 29 4 12.1212 PNLIPRP3 0 genome.wustl.edu 37 10 118236234 118236234 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 118236234 118236234 A C SNP PNLIPRP3 ENST00000369230 human ensembl 74_37 +1 known missense c.1243 p.S415R 0.869 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase,prints_Lipase_panc - no_errors PNLIPRP3 HGNC ENSG00000203837 103 0 0 88 8 8.33333 SLC18A2 0 genome.wustl.edu 37 10 119003515 119003515 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 119003515 119003515 A C SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.155 p.K52T 0.590 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 58 0 0 40 6 13.0435 TACC2 0 genome.wustl.edu 37 10 123843481 123843481 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 123843481 123843481 T C SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.1466 p.V489A 0.000 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 178 0 0 163 21 11.413 NEBL 0 genome.wustl.edu 37 10 21139351 21139351 + Silent SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 21139351 21139351 T G SNP NEBL ENST00000377122 human ensembl 74_37 -1 known silent c.1089 p.S363 0.554 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,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain - no_errors NEBL HGNC ENSG00000078114 147 0 0 158 13 7.60234 PGBD3 0 genome.wustl.edu 37 10 50724274 50724274 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 50724274 50724274 T G SNP PGBD3 ENST00000603152 human ensembl 74_37 -1 known missense c.2291 p.K764T 0.272 NULL NULL - no_errors PGBD3 HGNC ENSG00000243251 57 0 0 46 10 17.8571 PCDH15 0 genome.wustl.edu 37 10 55700715 55700715 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 55700715 55700715 A G SNP PCDH15 ENST00000320301 human ensembl 74_37 -1 known missense c.3143 p.L1048P 1.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH15 HGNC ENSG00000150275 94 0 0 70 5 6.66667 ARHGAP19-SLIT1 0 genome.wustl.edu 37 10 99019212 99019212 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 10 99019212 99019212 A C SNP ARHGAP19-SLIT1 ENST00000453547 human ensembl 74_37 -1 known missense c.787 p.S263A 1.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP19-SLIT1 HGNC ENSG00000269891 170 0 0 154 19 10.9827 USP28 0 genome.wustl.edu 37 11 113674571 113674571 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 113674571 113674571 C T SNP USP28 ENST00000003302 human ensembl 74_37 -1 known missense c.2687 p.R896Q 1.000 NULL pfam_Peptidase_C19/C67,superfamily_UBA-like,pfscan_Peptidase_C19/C67 - no_errors USP28 HGNC ENSG00000048028 70 0 0 63 10 13.6986 LRP4 0 genome.wustl.edu 37 11 46896598 46896598 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 46896598 46896598 G A SNP LRP4 ENST00000378623 human ensembl 74_37 -1 known missense c.3982 p.P1328S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP4 HGNC ENSG00000134569 86 0 0 57 8 12.3077 OR51G1 0 genome.wustl.edu 37 11 4945175 4945175 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 4945175 4945175 A C SNP OR51G1 ENST00000321961 human ensembl 74_37 -1 known missense c.395 p.L132R 0.992 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 OR51G1 HGNC ENSG00000176879 82 0 0 78 5 6.0241 OR4C6 0 genome.wustl.edu 37 11 55433389 55433389 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 55433389 55433389 T A SNP OR4C6 ENST00000314259 human ensembl 74_37 +1 known missense c.747 p.F249L 0.039 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 167 0 0 169 9 5.05618 OR5D14 0 genome.wustl.edu 37 11 55563569 55563569 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 55563569 55563569 T C SNP OR5D14 ENST00000335605 human ensembl 74_37 +1 known missense c.538 p.F180L 0.531 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 OR5D14 HGNC ENSG00000186113 292 0 0 292 45 13.3531 OR56A3 0 genome.wustl.edu 37 11 5969389 5969389 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 5969389 5969389 A C SNP OR56A3 ENST00000329564 human ensembl 74_37 +1 known missense c.813 p.K271N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR56A3 HGNC ENSG00000184478 254 0 0 265 26 8.93471 MS4A6A 0 genome.wustl.edu 37 11 59949151 59949151 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 59949151 59949151 T G SNP MS4A6A ENST00000323961 human ensembl 74_37 -1 known missense c.50 p.N17T 0.032 superfamily_MFS_dom_general_subst_transpt pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors MS4A6A HGNC ENSG00000110077 188 0 0 172 22 11.3402 MS4A10 0 genome.wustl.edu 37 11 60561521 60561521 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 60561521 60561521 T C SNP MS4A10 ENST00000308287 human ensembl 74_37 +1 known missense c.437 p.L146P 0.894 pfam_CD20-like pfam_CD20-like - no_errors MS4A10 HGNC ENSG00000172689 144 0 0 119 19 13.7681 NUMA1 0 genome.wustl.edu 37 11 71724063 71724063 + Nonsense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 71724063 71724063 G A SNP NUMA1 ENST00000393695 human ensembl 74_37 -1 known nonsense c.4486 p.R1496* 0.783 NULL superfamily_Prefoldin - no_errors NUMA1 HGNC ENSG00000137497 137 0 0 108 12 10 GPR83 0 genome.wustl.edu 37 11 94113847 94113847 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 11 94113847 94113847 A T SNP GPR83 ENST00000243673 human ensembl 74_37 -1 known missense c.740 p.L247H 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors GPR83 HGNC ENSG00000123901 57 0 0 50 10 16.6667 NR1H4 0 genome.wustl.edu 37 12 100904824 100904824 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 100904824 100904824 G A SNP NR1H4 ENST00000551379 human ensembl 74_37 +1 known silent c.378 p.A126 0.000 prints_ThyrH_rcpt 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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt - no_errors NR1H4 HGNC ENSG00000012504 122 1 0.813008 139 14 9.15033 STAB2 0 genome.wustl.edu 37 12 104144357 104144357 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 104144357 104144357 G A SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.6439 p.G2147S 1.000 smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 145 0 0 118 21 15.1079 DAO 0 genome.wustl.edu 37 12 109294207 109294207 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 109294207 109294207 T C SNP DAO ENST00000228476 human ensembl 74_37 +1 known missense c.940 p.Y314H 0.867 pfam_FAD-dep_OxRdtase pfam_FAD-dep_OxRdtase - no_errors DAO HGNC ENSG00000110887 129 0 0 107 10 8.54701 UBE3B 0 genome.wustl.edu 37 12 109959319 109959319 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 109959319 109959319 A G SNP UBE3B ENST00000342494 human ensembl 74_37 +1 known missense c.2327 p.E776G 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,pfam_IQ_motif_EF-hand-BS,superfamily_HECT,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS - no_errors UBE3B HGNC ENSG00000151148 87 0 0 79 12 13.1868 TMEM132D 0 genome.wustl.edu 37 12 129566470 129566470 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 129566470 129566470 T G SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known missense c.1757 p.E586A 0.974 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 109 0 0 75 7 8.53659 LRRK2 0 genome.wustl.edu 37 12 40716140 40716140 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 40716140 40716140 A C SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.5337 p.Q1779H 1.000 NULL 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 210 0 0 208 12 5.45455 TMEM117 0 genome.wustl.edu 37 12 44782372 44782372 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 44782372 44782372 T G SNP TMEM117 ENST00000266534 human ensembl 74_37 +1 known missense c.1462 p.L488V 0.990 NULL NULL - no_errors TMEM117 HGNC ENSG00000139173 189 0 0 194 24 11.0092 ERBB3 0 genome.wustl.edu 37 12 56478854 56478854 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 56478854 56478854 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.310 p.V104L 0.994 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 194 0 0 160 20 11.1111 ESYT1 0 genome.wustl.edu 37 12 56525562 56525562 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 56525562 56525562 C T SNP ESYT1 ENST00000267113 human ensembl 74_37 +1 known silent c.834 p.T278 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_C2_dom,pfscan_C2_dom - no_errors ESYT1 HGNC ENSG00000139641 119 0 0 93 11 10.5769 TPI1 0 genome.wustl.edu 37 12 6976707 6976707 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 6976707 6976707 C T SNP TPI1 ENST00000229270 human ensembl 74_37 +1 known missense c.88 p.L30F 0.996 NULL pfam_Triosephosphate_isomerase,superfamily_Triosephosphate_isomerase,tigrfam_Triosephosphate_isomerase - no_errors TPI1 HGNC ENSG00000111669 33 0 0 21 5 19.2308 MYF6 0 genome.wustl.edu 37 12 81101582 81101582 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 81101582 81101582 A G SNP MYF6 ENST00000228641 human ensembl 74_37 +1 known silent c.84 p.A28 0.911 pfam_Basic,smart_Basic pfam_Basic,pfam_bHLH_dom,superfamily_bHLH_dom,smart_Basic,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MYF6 HGNC ENSG00000111046 155 0 0 139 16 10.3226 A2ML1 0 genome.wustl.edu 37 12 8998053 8998053 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 12 8998053 8998053 A C SNP A2ML1 ENST00000299698 human ensembl 74_37 +1 known missense c.1492 p.S498R 0.001 pfam_A2M_N_2 pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 75 0 0 61 7 10.2941 NALCN 0 genome.wustl.edu 37 13 101944618 101944618 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 13 101944618 101944618 A G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.899 p.F300S 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 43 0 0 44 7 13.7255 PARP4 0 genome.wustl.edu 37 13 25049733 25049733 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 13 25049733 25049733 A C SNP PARP4 ENST00000381989 human ensembl 74_37 -1 known missense c.1791 p.D597E 0.995 NULL pfam_Poly(ADP-ribose)pol_cat_dom,pfam_VIT,pfam_VWF_A,pfam_BRCT_dom,superfamily_Poly(ADP-ribose)pol_reg_dom,superfamily_BRCT_dom,smart_BRCT_dom,smart_VIT,smart_VWF_A,pfscan_BRCT_dom,pfscan_VWF_A,pfscan_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_reg_dom - no_errors PARP4 HGNC ENSG00000102699 106 0 0 87 15 14.7059 RTL1 0 genome.wustl.edu 37 14 101348153 101348153 + Silent SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 101348153 101348153 T A SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.2973 p.R991 0.000 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 79 0 0 82 6 6.81818 ENSG00000258364 0 genome.wustl.edu 37 14 19413621 19413621 + RNA SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 19413621 19413621 C T SNP ENSG00000258364 ENST00000550928 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-536C10.16 Clone_based_vega_gene ENSG00000258364 10 0 0 2 4 66.6667 LTB4R 0 genome.wustl.edu 37 14 24785153 24785153 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 24785153 24785153 T A SNP LTB4R ENST00000345363 human ensembl 74_37 +1 known missense c.296 p.V99D 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Leukotriene_B4_typ-1_rcpt,prints_Leukotriene_B4_rcpt,prints_GPCR_Rhodpsn - no_errors LTB4R HGNC ENSG00000213903 118 0 0 97 10 9.34579 RALGAPA1 0 genome.wustl.edu 37 14 36096777 36096777 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 36096777 36096777 T C SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.4999 p.S1667G 0.983 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 64 0 0 63 9 12.5 FSCB 0 genome.wustl.edu 37 14 44975246 44975246 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 44975246 44975246 T C SNP FSCB ENST00000340446 human ensembl 74_37 -1 known silent c.945 p.K315 0.001 NULL NULL - no_errors FSCB HGNC ENSG00000189139 98 0 0 106 6 5.35714 MAX 0 genome.wustl.edu 37 14 65544747 65544747 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 65544747 65544747 C T SNP MAX ENST00000358664 human ensembl 74_37 -1 known missense c.179 p.R60Q 1.000 pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MAX HGNC ENSG00000125952 116 0 0 77 11 12.5 UNC79 0 genome.wustl.edu 37 14 94007143 94007143 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 94007143 94007143 A G SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.1490 p.Q497R 1.000 NULL superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 134 0 0 125 8 6.01504 DICER1 0 genome.wustl.edu 37 14 95570115 95570115 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 95570115 95570115 C T SNP DICER1 ENST00000343455 human ensembl 74_37 -1 known silent c.3618 p.K1206 1.000 NULL pfam_RNase_III_dom,pfam_PAZ_dom,pfam_Dicer_dimerisation_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_P-loop_NTPase,superfamily_PAZ_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ_dom,smart_RNase_III_dom,smart_dsRNA-bd_dom,pfscan_PAZ_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_dsRNA-bd_dom,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 137 0 0 123 10 7.5188 SYNE3 0 genome.wustl.edu 37 14 95912417 95912417 + Missense_Mutation SNP C C G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 14 95912417 95912417 C G SNP SYNE3 ENST00000334258 human ensembl 74_37 -1 known missense c.1461 p.M487I 0.020 NULL pfam_KASH,pfam_Spectrin_repeat,superfamily_Retrov_capsid_C,smart_Spectrin/alpha-actinin,pfscan_KASH - no_errors SYNE3 HGNC ENSG00000176438 151 0 0 133 15 10.1351 DNM1P47 0 genome.wustl.edu 37 15 102305092 102305092 + RNA SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 102305092 102305092 A G SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.904 - - - no_errors DNM1P47 HGNC ENSG00000259660 40 0 0 33 3 8.33333 OR4F6 0 genome.wustl.edu 37 15 102346405 102346405 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 102346405 102346405 T C SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known silent c.483 p.A161 0.580 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 265 0 0 233 39 14.3382 POTEB2 0 genome.wustl.edu 37 15 21071460 21071460 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 21071460 21071460 C T SNP POTEB2 ENST00000454856 human ensembl 74_37 -1 known missense c.151 p.D51N 0.034 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEB2 HGNC ENSG00000230031 9 0 0 1 4 80 OR4N4 0 genome.wustl.edu 37 15 22382731 22382731 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 22382731 22382731 T G SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.259 p.S87A 0.957 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 206 0 0 205 13 5.9633 SLC12A6 0 genome.wustl.edu 37 15 34533513 34533513 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 34533513 34533513 T C SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.2161 p.I721V 0.999 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 68 0 0 56 4 6.66667 GPR176 0 genome.wustl.edu 37 15 40094058 40094058 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 40094058 40094058 A G SNP GPR176 ENST00000561100 human ensembl 74_37 -1 known missense c.823 p.F275L 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR176 HGNC ENSG00000166073 73 0 0 69 14 16.8675 NDUFAF1 0 genome.wustl.edu 37 15 41679693 41679693 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 41679693 41679693 T G SNP NDUFAF1 ENST00000260361 human ensembl 74_37 -1 known missense c.933 p.E311D 1.000 NULL pfam_NADH-UbQ_OxRdtase-assoc_prot30,superfamily_Galactose-bd-like - no_errors NDUFAF1 HGNC ENSG00000137806 130 0 0 139 10 6.71141 DNAJA4 0 genome.wustl.edu 37 15 78566640 78566640 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 15 78566640 78566640 A G SNP DNAJA4 ENST00000394855 human ensembl 74_37 +1 known missense c.607 p.I203V 1.000 pfam_HSP_DnaJ_Cys-rich_dom,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,pfscan_HSP_DnaJ_Cys-rich_dom pfam_DnaJ_domain,pfam_DnaJ_C,pfam_HSP_DnaJ_Cys-rich_dom,superfamily_DnaJ_domain,superfamily_HSP40/DnaJ_pept-bd,superfamily_HSP_DnaJ_Cys-rich_dom,smart_DnaJ_domain,pfscan_DnaJ_domain,pfscan_HSP_DnaJ_Cys-rich_dom,prints_DnaJ_domain - no_errors DNAJA4 HGNC ENSG00000140403 77 0 0 61 7 10.2941 NETO2 0 genome.wustl.edu 37 16 47117496 47117496 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 16 47117496 47117496 T C SNP NETO2 ENST00000562435 human ensembl 74_37 -1 known missense c.1214 p.D405G 1.000 NULL pfam_CUB_dom,pfam_LDrepeatLR_classA_rpt,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_CUB_dom,smart_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt - no_errors NETO2 HGNC ENSG00000171208 129 0 0 124 13 9.48905 LPCAT2 0 genome.wustl.edu 37 16 55613109 55613109 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 16 55613109 55613109 T G SNP LPCAT2 ENST00000262134 human ensembl 74_37 +1 known missense c.1403 p.V468G 1.000 NULL pfam_EF_hand_dom,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors LPCAT2 HGNC ENSG00000087253 98 0 0 110 8 6.77966 GPR114 0 genome.wustl.edu 37 16 57597818 57597818 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 16 57597818 57597818 G A SNP GPR114 ENST00000340339 human ensembl 74_37 +1 known missense c.356 p.R119Q 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR114 HGNC ENSG00000159618 94 0 0 69 7 9.21053 MTSS1L 0 genome.wustl.edu 37 16 70710872 70710872 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 16 70710872 70710872 C T SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.742 p.D248N 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 48 0 0 35 4 10.2564 CTU2 0 genome.wustl.edu 37 16 88779164 88779164 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 16 88779164 88779164 G A SNP CTU2 ENST00000567949 human ensembl 74_37 +1 known silent c.801 p.P267 0.000 NULL pfam_Thiouridylase_cyt_su2 - no_errors CTU2 HGNC ENSG00000174177 50 0 0 30 5 14.2857 NXPH3 0 genome.wustl.edu 37 17 47656222 47656222 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 17 47656222 47656222 T G SNP NXPH3 ENST00000328741 human ensembl 74_37 +1 known missense c.319 p.S107A 1.000 pfam_NXPH/NXPE,pirsf_Neurexophilin pfam_NXPH/NXPE,pirsf_Neurexophilin - no_errors NXPH3 HGNC ENSG00000182575 59 0 0 60 4 6.25 ABCA6 0 genome.wustl.edu 37 17 67087355 67087355 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 17 67087355 67087355 T C SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.3457 p.S1153G 0.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 53 0 0 52 5 8.77193 AZI1 0 genome.wustl.edu 37 17 79167799 79167799 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 17 79167799 79167799 C T SNP AZI1 ENST00000269392 human ensembl 74_37 -1 known missense c.2257 p.E753K 0.985 NULL superfamily_t-SNARE - no_errors AZI1 HGNC ENSG00000141577 17 0 0 13 3 18.75 ZNF521 0 genome.wustl.edu 37 18 22807019 22807019 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 18 22807019 22807019 T C SNP ZNF521 ENST00000361524 human ensembl 74_37 -1 known missense c.863 p.E288G 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF521 HGNC ENSG00000198795 113 0 0 84 8 8.69565 PIK3C3 0 genome.wustl.edu 37 18 39647433 39647433 + Missense_Mutation SNP G G C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 18 39647433 39647433 G C SNP PIK3C3 ENST00000262039 human ensembl 74_37 +1 known missense c.2605 p.A869P 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C3 HGNC ENSG00000078142 82 0 0 73 8 9.87654 RAX 0 genome.wustl.edu 37 18 56936342 56936342 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 18 56936342 56936342 T G SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.935 p.K312T 1.000 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 38 0 0 20 3 13.0435 RTTN 0 genome.wustl.edu 37 18 67684867 67684867 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 18 67684867 67684867 C T SNP RTTN ENST00000255674 human ensembl 74_37 -1 known missense c.6197 p.G2066E 0.999 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors RTTN HGNC ENSG00000176225 92 0 0 92 10 9.80392 APC2 0 genome.wustl.edu 37 19 1465645 1465645 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 1465645 1465645 A G SNP APC2 ENST00000233607 human ensembl 74_37 +1 known missense c.2345 p.D782G 0.972 NULL pfam_APC_basic_dom,pfam_APC_dom,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Armadillo - no_errors APC2 HGNC ENSG00000115266 12 0 0 21 4 16 SLC1A6 0 genome.wustl.edu 37 19 15079169 15079169 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 15079169 15079169 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.494 p.R165Q 0.630 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 32 0 0 28 7 20 CYP4F2 0 genome.wustl.edu 37 19 15989663 15989663 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 15989663 15989663 T G SNP CYP4F2 ENST00000221700 human ensembl 74_37 -1 known missense c.1481 p.D494A 0.021 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F2 HGNC ENSG00000186115 66 0 0 46 8 14.8148 JAK3 0 genome.wustl.edu 37 19 17951088 17951088 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 17951088 17951088 C T SNP JAK3 ENST00000458235 human ensembl 74_37 -1 known missense c.1205 p.R402H 0.998 smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 46 0 0 44 5 10.2041 ISYNA1 0 genome.wustl.edu 37 19 18547246 18547246 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 18547246 18547246 G A SNP ISYNA1 ENST00000338128 human ensembl 74_37 -1 known missense c.653 p.A218V 0.717 pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase - no_errors ISYNA1 HGNC ENSG00000105655 164 0 0 128 19 12.9252 ZNF536 0 genome.wustl.edu 37 19 31040061 31040061 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 31040061 31040061 G T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.3535 p.D1179Y 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 100 0 0 105 9 7.89474 SPINT2 0 genome.wustl.edu 37 19 38779813 38779813 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 38779813 38779813 G A SNP SPINT2 ENST00000301244 human ensembl 74_37 +1 known missense c.373 p.D125N 0.032 NULL pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors SPINT2 HGNC ENSG00000167642 146 0 0 134 15 10.0671 CYP2A13 0 genome.wustl.edu 37 19 41595958 41595958 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 41595958 41595958 C T SNP CYP2A13 ENST00000330436 human ensembl 74_37 +1 known missense c.350 p.A117V 0.109 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 36 0 0 40 9 18.3673 ATP1A3 0 genome.wustl.edu 37 19 42479939 42479939 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 42479939 42479939 A G SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.2105 p.V702A 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A3 HGNC ENSG00000105409 163 0 0 157 18 10.2857 ARRDC5 0 genome.wustl.edu 37 19 4891231 4891231 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 4891231 4891231 C T SNP ARRDC5 ENST00000381781 human ensembl 74_37 -1 known missense c.856 p.G286S 0.000 pfam_Arrestin_C-like,superfamily_Ig_E-set pfam_Arrestin-like_N,pfam_Arrestin_C-like,superfamily_Ig_E-set - no_errors ARRDC5 HGNC ENSG00000205784 204 1 0.487805 197 27 12.0536 TRPM4 0 genome.wustl.edu 37 19 49705384 49705384 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 49705384 49705384 C T SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known silent c.3117 p.L1039 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 145 0 0 110 10 8.33333 POLD1 0 genome.wustl.edu 37 19 50910659 50910659 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 50910659 50910659 G A SNP POLD1 ENST00000440232 human ensembl 74_37 +1 known missense c.1762 p.E588K 1.000 pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2 - no_errors POLD1 HGNC ENSG00000062822 21 0 0 24 8 25 ZNF610 0 genome.wustl.edu 37 19 52857592 52857592 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 52857592 52857592 A C SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known missense c.279 p.K93N 0.006 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 ZNF610 HGNC ENSG00000167554 66 0 0 48 15 23.8095 ZNF347 0 genome.wustl.edu 37 19 53645784 53645784 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 53645784 53645784 T A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.300 p.K100N 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 ZNF347 HGNC ENSG00000197937 39 0 0 28 5 15.1515 LILRA1 0 genome.wustl.edu 37 19 55112422 55112422 + RNA SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 55112422 55112422 T G SNP LILRA1 ENST00000473156 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LILRA1 HGNC ENSG00000104974 21 0 0 11 5 31.25 KIR2DL1 0 genome.wustl.edu 37 19 55284967 55284967 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 55284967 55284967 T G SNP KIR2DL1 ENST00000336077 human ensembl 74_37 +1 known missense c.253 p.F85V 0.003 pfam_Immunoglobulin,smart_Ig_sub pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL1 HGNC ENSG00000125498 189 0 0 129 39 23.2143 NLRP9 0 genome.wustl.edu 37 19 56243496 56243496 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 56243496 56243496 T G SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.1701 p.E567D 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 61 0 0 65 13 16.6667 MUC16 0 genome.wustl.edu 37 19 9018538 9018538 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 9018538 9018538 A C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.37636 p.F12546V 0.184 pfam_SEA_dom pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 259 0 0 233 24 9.33852 OR7G1 0 genome.wustl.edu 37 19 9226256 9226256 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 9226256 9226256 G T SNP OR7G1 ENST00000293614 human ensembl 74_37 -1 known missense c.184 p.L62I 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR7G1 HGNC ENSG00000161807 196 0 0 180 17 8.62944 ZNF559 0 genome.wustl.edu 37 19 9453044 9453044 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 9453044 9453044 T G SNP ZNF559 ENST00000393883 human ensembl 74_37 +1 known missense c.917 p.F306C 0.552 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 ZNF559 HGNC ENSG00000188321 103 0 0 98 20 16.9492 IL1R2 0 genome.wustl.edu 37 2 102625053 102625053 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 102625053 102625053 G A SNP IL1R2 ENST00000332549 human ensembl 74_37 +1 known missense c.16 p.V6M 0.000 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ,prints_IL-1_rcpt_I/II-typ - no_errors IL1R2 HGNC ENSG00000115590 309 0 0 326 27 7.64873 RGPD4 0 genome.wustl.edu 37 2 108477254 108477254 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 108477254 108477254 A G SNP RGPD4 ENST00000354986 human ensembl 74_37 +1 known silent c.1791 p.R597 0.998 NULL pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD4 HGNC ENSG00000196862 268 0 0 241 29 10.7407 EDAR 0 genome.wustl.edu 37 2 109513596 109513596 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 109513596 109513596 T G SNP EDAR ENST00000376651 human ensembl 74_37 -1 known missense c.1210 p.K404Q 1.000 pfam_Death_domain,superfamily_DEATH-like_dom pfam_Death_domain,superfamily_DEATH-like_dom - no_errors EDAR HGNC ENSG00000135960 85 0 0 86 8 8.51064 DPP10 0 genome.wustl.edu 37 2 115200414 115200414 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 115200414 115200414 A G SNP DPP10 ENST00000410059 human ensembl 74_37 +1 known missense c.59 p.K20R 1.000 NULL pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP10 HGNC ENSG00000175497 38 0 0 57 7 10.9375 CCDC93 0 genome.wustl.edu 37 2 118698836 118698836 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 118698836 118698836 T C SNP CCDC93 ENST00000376300 human ensembl 74_37 -1 known missense c.1451 p.K484R 1.000 NULL pfam_DUF2037 - no_errors CCDC93 HGNC ENSG00000125633 95 0 0 103 11 9.64912 MGAT5 0 genome.wustl.edu 37 2 135206285 135206285 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 135206285 135206285 A C SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.2093 p.K698T 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 228 0 0 210 16 7.07965 THSD7B 0 genome.wustl.edu 37 2 138208477 138208477 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 138208477 138208477 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3022 p.S1008G 0.966 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 71 0 0 56 5 8.19672 LRP1B 0 genome.wustl.edu 37 2 141625218 141625218 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 141625218 141625218 T G SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4520 p.Q1507P 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 160 0 0 166 15 8.28729 GCG 0 genome.wustl.edu 37 2 163000597 163000597 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 163000597 163000597 A G SNP GCG ENST00000375497 human ensembl 74_37 -1 known missense c.476 p.L159P 0.999 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 96 0 0 95 17 15.1786 CSRNP3 0 genome.wustl.edu 37 2 166535430 166535430 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 166535430 166535430 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.925 p.V309I 0.965 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 118 0 0 91 13 12.5 XIRP2 0 genome.wustl.edu 37 2 168100111 168100111 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 168100111 168100111 G A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2209 p.E737K 1.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 57 0 0 46 4 8 TTN 0 genome.wustl.edu 37 2 179425966 179425966 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 179425966 179425966 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.77189 p.R25730Q 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 90 0 0 87 14 13.8614 TTN 0 genome.wustl.edu 37 2 179445318 179445318 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 179445318 179445318 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.59084 p.L19695R 1.000 superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 48 0 0 34 6 15 TTN 0 genome.wustl.edu 37 2 179452255 179452255 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 179452255 179452255 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.56077 p.V18693I 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 39 0 0 47 5 9.61538 TTN 0 genome.wustl.edu 37 2 179458569 179458569 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 179458569 179458569 T C SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.50754 p.P16918 0.908 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 52 0 0 49 5 9.25926 TTN-AS1 0 genome.wustl.edu 37 2 179469665 179469665 + RNA SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 179469665 179469665 T G SNP TTN-AS1 ENST00000419746 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTN-AS1 HGNC ENSG00000237298 141 0 0 132 18 12 PLCL1 0 genome.wustl.edu 37 2 198950584 198950584 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 198950584 198950584 T C SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known silent c.2343 p.T781 0.803 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 149 0 0 132 23 14.8387 IKZF2 0 genome.wustl.edu 37 2 213878645 213878645 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 2 213878645 213878645 T C SNP IKZF2 ENST00000434687 human ensembl 74_37 -1 known silent c.726 p.E242 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF2 HGNC ENSG00000030419 89 0 0 92 14 13.2075 PAX1 0 genome.wustl.edu 37 20 21695269 21695269 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 21695269 21695269 C T SNP PAX1 ENST00000398485 human ensembl 74_37 +1 known missense c.1433 p.A478V 0.000 NULL pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX1 HGNC ENSG00000125813 15 0 0 13 3 18.75 SSTR4 0 genome.wustl.edu 37 20 23016968 23016968 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 23016968 23016968 T G SNP SSTR4 ENST00000255008 human ensembl 74_37 +1 known missense c.848 p.L283R 0.965 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Somatstn_rcpt_4,prints_GPCR_Rhodpsn,prints_Somatstn_rcpt,prints_Opioid_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt,prints_Somatstn_rcpt_1 - no_errors SSTR4 HGNC ENSG00000132671 136 0 0 140 22 13.5802 NAPB 0 genome.wustl.edu 37 20 23383641 23383641 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 23383641 23383641 T C SNP NAPB ENST00000377026 human ensembl 74_37 -1 known missense c.167 p.K56R 1.000 prints_NSF_attach prints_NSF_attach - no_errors NAPB HGNC ENSG00000125814 57 0 0 52 7 11.8644 DEFB132 0 genome.wustl.edu 37 20 238424 238424 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 238424 238424 A G SNP DEFB132 ENST00000382376 human ensembl 74_37 +1 known missense c.5 p.K2R 0.991 NULL NULL - no_errors DEFB132 HGNC ENSG00000186458 65 0 0 71 8 10.1266 DLGAP4 0 genome.wustl.edu 37 20 35064645 35064645 + Missense_Mutation SNP G G C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 35064645 35064645 G C SNP DLGAP4 ENST00000339266 human ensembl 74_37 +1 known missense c.1133 p.S378T 1.000 NULL pfam_GKAP - no_errors DLGAP4 HGNC ENSG00000080845 42 0 0 56 3 5.08475 VSTM2L 0 genome.wustl.edu 37 20 36572448 36572448 + Nonsense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 36572448 36572448 C T SNP VSTM2L ENST00000373459 human ensembl 74_37 +1 putative nonsense c.187 p.R63* 1.000 NULL NULL - no_errors VSTM2L HGNC ENSG00000132821 40 0 0 44 4 8.33333 RBCK1 0 genome.wustl.edu 37 20 402813 402813 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 402813 402813 G A SNP RBCK1 ENST00000382214 human ensembl 74_37 +1 known missense c.935 p.R312K 1.000 NULL pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 172 0 0 177 34 16.1137 PREX1 0 genome.wustl.edu 37 20 47267989 47267989 + Missense_Mutation SNP C C A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 47267989 47267989 C A SNP PREX1 ENST00000371941 human ensembl 74_37 -1 known missense c.2600 p.C867F 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX1 HGNC ENSG00000124126 93 0 0 81 11 11.9565 SALL4 0 genome.wustl.edu 37 20 50406626 50406626 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 50406626 50406626 T C SNP SALL4 ENST00000217086 human ensembl 74_37 -1 known missense c.2396 p.K799R 0.987 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL4 HGNC ENSG00000101115 147 0 0 141 11 7.23684 CASS4 0 genome.wustl.edu 37 20 55027707 55027707 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 55027707 55027707 A T SNP CASS4 ENST00000360314 human ensembl 74_37 +1 known missense c.1475 p.E492V 0.078 pfam_Serine_rich pfam_Serine_rich,pfam_CAS_DUF3513,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors CASS4 HGNC ENSG00000087589 63 0 0 49 11 18.3333 CDH26 0 genome.wustl.edu 37 20 58564160 58564160 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 58564160 58564160 G T SNP CDH26 ENST00000244047 human ensembl 74_37 +1 known missense c.1225 p.A409S 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 485 0 0 463 52 10.0971 LIPI 0 genome.wustl.edu 37 21 15561478 15561478 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 21 15561478 15561478 T C SNP LIPI ENST00000344577 human ensembl 74_37 -1 known silent c.372 p.E124 0.011 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase - no_errors LIPI HGNC ENSG00000188992 90 0 0 76 6 7.31707 ADAMTS5 0 genome.wustl.edu 37 21 28296442 28296442 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 21 28296442 28296442 T G SNP ADAMTS5 ENST00000284987 human ensembl 74_37 -1 known missense c.2723 p.K908T 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_ADAM_spacer1,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS5,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS5 HGNC ENSG00000154736 89 0 0 84 7 7.69231 TIAM1 0 genome.wustl.edu 37 21 32638350 32638350 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 21 32638350 32638350 T G SNP TIAM1 ENST00000286827 human ensembl 74_37 -1 known missense c.939 p.Q313H 0.995 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Raf-like_ras-bd,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_Pleckstrin_homology,smart_Raf-like_ras-bd,smart_PDZ,smart_DH-domain,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_Raf-like_ras-bd,pfscan_DH-domain - no_errors TIAM1 HGNC ENSG00000156299 116 0 0 80 9 10.1124 CECR1 0 genome.wustl.edu 37 22 17688091 17688091 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 22 17688091 17688091 A C SNP CECR1 ENST00000262607 human ensembl 74_37 -1 known missense c.412 p.F138V 0.968 tigrfam_Ad_deam-like pfam_A/AMP_deaminase_dom,pfam_A_deaminase_N,tigrfam_Ad_deam-like - no_errors CECR1 HGNC ENSG00000093072 150 0 0 148 16 9.7561 GNAZ 0 genome.wustl.edu 37 22 23437912 23437912 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 22 23437912 23437912 A C SNP GNAZ ENST00000248996 human ensembl 74_37 +1 known missense c.30 p.K10N 1.000 pfam_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAZ HGNC ENSG00000128266 53 0 0 41 4 8.88889 ZNRF3 0 genome.wustl.edu 37 22 29445296 29445296 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 22 29445296 29445296 A T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.1127 p.N376I 0.983 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 101 0 0 90 11 10.8911 EFCAB6 0 genome.wustl.edu 37 22 44063009 44063009 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 22 44063009 44063009 T A SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.1958 p.K653I 0.030 smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 142 0 0 113 18 13.7405 PKDREJ 0 genome.wustl.edu 37 22 46655349 46655349 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 22 46655349 46655349 C T SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.3871 p.G1291R 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 159 0 0 132 15 10.2041 ABI3BP 0 genome.wustl.edu 37 3 100595361 100595361 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 100595361 100595361 T C SNP ABI3BP ENST00000284322 human ensembl 74_37 -1 known missense c.761 p.K254R 1.000 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors ABI3BP HGNC ENSG00000154175 81 0 0 106 9 7.82609 XRN1 0 genome.wustl.edu 37 3 142048335 142048335 + Nonsense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 142048335 142048335 G A SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known nonsense c.4342 p.R1448* 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 46 0 0 25 4 13.7931 PLOD2 0 genome.wustl.edu 37 3 145803056 145803056 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 145803056 145803056 A G SNP PLOD2 ENST00000282903 human ensembl 74_37 -1 known missense c.1132 p.F378L 0.965 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD2 HGNC ENSG00000152952 39 0 0 43 3 6.52174 C3orf20 0 genome.wustl.edu 37 3 14770025 14770025 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 14770025 14770025 C T SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known silent c.1770 p.P590 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 114 0 0 82 6 6.81818 GPR87 0 genome.wustl.edu 37 3 151012123 151012123 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 151012123 151012123 G A SNP GPR87 ENST00000260843 human ensembl 74_37 -1 known missense c.911 p.A304V 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2Y13_rcpt,prints_P2Y14_rcpt - no_errors GPR87 HGNC ENSG00000138271 103 0 0 119 21 15 PIK3CA 0 genome.wustl.edu 37 3 178928079 178928079 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 178928079 178928079 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1357 p.E453K 1.000 pfam_PI3K_C2_dom,superfamily_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 131 0 0 114 15 11.6279 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 81 0 0 89 6 6.31579 CCDC39 0 genome.wustl.edu 37 3 180372680 180372680 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 180372680 180372680 T C SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.800 p.K267R 0.994 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 38 0 0 37 5 11.9048 CCDC39 0 genome.wustl.edu 37 3 180377341 180377341 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 180377341 180377341 A C SNP CCDC39 ENST00000442201 human ensembl 74_37 -1 known missense c.637 p.F213V 1.000 NULL superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors CCDC39 HGNC ENSG00000145075 132 0 0 133 17 11.3333 ETV5 0 genome.wustl.edu 37 3 185798929 185798929 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 185798929 185798929 G A SNP ETV5 ENST00000537818 human ensembl 74_37 -1 known missense c.394 p.R132W 1.000 pfam_ETS_PEA3_N pfam_ETS_PEA3_N,pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV5 HGNC ENSG00000244405 178 0 0 166 37 18.2266 MUC4 0 genome.wustl.edu 37 3 195512103 195512103 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 195512103 195512103 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known silent c.6348 p.T2116 0.138 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 14 0 0 10 3 23.0769 ZDHHC19 0 genome.wustl.edu 37 3 195938172 195938172 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 195938172 195938172 C T SNP ZDHHC19 ENST00000296326 human ensembl 74_37 -1 known silent c.15 p.T5 0.029 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC19 HGNC ENSG00000163958 132 0 0 112 8 6.66667 UBA7 0 genome.wustl.edu 37 3 49850964 49850964 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 49850964 49850964 C T SNP UBA7 ENST00000333486 human ensembl 74_37 -1 known missense c.173 p.S58N 0.300 pfam_ThiF_NAD_FAD-bd,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 pfam_ThiF_NAD_FAD-bd,pfam_UBact_repeat,pfam_Ub-activating_enz_e1_C,pfam_Ubiquitin-activating_enzyme,superfamily_Molybdenum_cofac_synth_MoeB,prints_UBQ/SUMO-activ_enz_E1-like,tigrfam_UBQ-activ_enz_E1 - no_errors UBA7 HGNC ENSG00000182179 120 0 0 83 5 5.68182 HYAL2 0 genome.wustl.edu 37 3 50355620 50355620 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 50355620 50355620 A G SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known silent c.1362 p.A454 0.195 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 75 0 0 66 4 5.71429 CACNA2D2 0 genome.wustl.edu 37 3 50416351 50416351 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 50416351 50416351 T A SNP CACNA2D2 ENST00000435965 human ensembl 74_37 -1 known missense c.1334 p.N445I 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 64 0 0 60 11 15.493 LRTM1 0 genome.wustl.edu 37 3 54958865 54958865 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 54958865 54958865 A C SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.385 p.L129V 0.999 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 93 0 0 89 6 6.31579 HTR1F 0 genome.wustl.edu 37 3 88040704 88040704 + Silent SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 3 88040704 88040704 A C SNP HTR1F ENST00000319595 human ensembl 74_37 +1 known silent c.805 p.R269 0.962 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_5HT1F_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,prints_5HT1F_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors HTR1F HGNC ENSG00000179097 55 0 0 66 8 10.8108 DDIT4L 0 genome.wustl.edu 37 4 101109157 101109157 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 101109157 101109157 T C SNP DDIT4L ENST00000273990 human ensembl 74_37 -1 known missense c.259 p.R87G 1.000 pfam_RTP801-like pfam_RTP801-like - no_errors DDIT4L HGNC ENSG00000145358 163 0 0 128 13 9.21986 ANK2 0 genome.wustl.edu 37 4 114278657 114278657 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 114278657 114278657 T C SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.8883 p.S2961 0.989 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 192 0 0 190 25 11.6279 NDST4 0 genome.wustl.edu 37 4 115997948 115997948 + Missense_Mutation SNP A A T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 115997948 115997948 A T SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known missense c.245 p.L82H 0.936 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 134 0 0 118 13 9.92366 FAT4 0 genome.wustl.edu 37 4 126371322 126371322 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 126371322 126371322 T G SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.9151 p.L3051V 0.418 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 76 0 0 63 8 11.2676 INTU 0 genome.wustl.edu 37 4 128629739 128629739 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 128629739 128629739 A C SNP INTU ENST00000335251 human ensembl 74_37 +1 known missense c.2285 p.K762T 0.995 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 34 0 0 31 4 11.4286 DCLK2 0 genome.wustl.edu 37 4 151023936 151023936 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 151023936 151023936 A G SNP DCLK2 ENST00000302176 human ensembl 74_37 +1 known missense c.728 p.K243R 1.000 pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom pfam_Prot_kinase_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK2 HGNC ENSG00000170390 57 0 0 37 3 7.5 RBM46 0 genome.wustl.edu 37 4 155720526 155720526 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 155720526 155720526 A C SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.1212 p.K404N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 48 0 0 66 4 5.71429 GUCY1A3 0 genome.wustl.edu 37 4 156634503 156634503 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 156634503 156634503 A C SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.1340 p.K447T 1.000 pfam_Haem_no_assoc-bd,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 80 0 0 80 12 13.0435 TDO2 0 genome.wustl.edu 37 4 156831278 156831278 + Missense_Mutation SNP G G T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 156831278 156831278 G T SNP TDO2 ENST00000536354 human ensembl 74_37 +1 known missense c.533 p.R178I 1.000 pfam_Trp_2_3_dOase pfam_Trp_2_3_dOase - no_errors TDO2 HGNC ENSG00000151790 121 0 0 121 15 11.0294 FNIP2 0 genome.wustl.edu 37 4 159790449 159790449 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 159790449 159790449 T C SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known silent c.2730 p.I910 0.995 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 53 0 0 27 4 12.9032 PRIMPOL 0 genome.wustl.edu 37 4 185593358 185593358 + Silent SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 185593358 185593358 T G SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known silent c.588 p.A196 0.245 pfam_DNA_primase_S pfam_DNA_primase_UL52/UL70_Herpvir,pfam_DNA_primase_S - no_errors PRIMPOL HGNC ENSG00000164306 165 0 0 141 15 9.61538 CCDC110 0 genome.wustl.edu 37 4 186379713 186379713 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 186379713 186379713 A G SNP CCDC110 ENST00000307588 human ensembl 74_37 -1 known silent c.2028 p.F676 0.314 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors CCDC110 HGNC ENSG00000168491 104 0 0 101 9 8.18182 PPARGC1A 0 genome.wustl.edu 37 4 23814390 23814390 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 23814390 23814390 T C SNP PPARGC1A ENST00000264867 human ensembl 74_37 -1 known missense c.1999 p.R667G 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors PPARGC1A HGNC ENSG00000109819 177 0 0 174 10 5.43478 EVC2 0 genome.wustl.edu 37 4 5620291 5620291 + Nonsense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 5620291 5620291 G A SNP EVC2 ENST00000344408 human ensembl 74_37 -1 known nonsense c.2620 p.R874* 0.988 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 53 0 0 54 6 10 PTPN13 0 genome.wustl.edu 37 4 87724935 87724935 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 87724935 87724935 G A SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known silent c.6594 p.T2198 0.010 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 169 0 0 175 25 12.5 DRD5 0 genome.wustl.edu 37 4 9784832 9784832 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 4 9784832 9784832 C T SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known silent c.1179 p.L393 0.988 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D5_rcpt,prints_Dopamine_rcpt - no_errors DRD5 HGNC ENSG00000169676 74 0 0 56 6 9.67742 PAM 0 genome.wustl.edu 37 5 102295728 102295728 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 102295728 102295728 A G SNP PAM ENST00000304400 human ensembl 74_37 +1 known missense c.1055 p.K352R 0.983 NULL pfam_NHL_repeat,pfam_Cu2_ascorb_mOase_N,superfamily_PHM/PNGase_F_dom,pfscan_NHL_repeat_subgr,prints_Pep_amidat_mOase - no_errors PAM HGNC ENSG00000145730 71 0 0 79 7 8.13953 FBN2 0 genome.wustl.edu 37 5 127855063 127855063 + Splice_Site SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 127855063 127855063 T G SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known splice_site c.533-2 e5-2 1.000 - - - no_errors FBN2 HGNC ENSG00000138829 48 0 0 56 4 6.66667 MYOT 0 genome.wustl.edu 37 5 137222974 137222974 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 137222974 137222974 T A SNP MYOT ENST00000239926 human ensembl 74_37 +1 known missense c.1397 p.L466H 0.992 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MYOT HGNC ENSG00000120729 113 0 0 100 15 13.0435 PCDHAC2 0 genome.wustl.edu 37 5 140347619 140347619 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 140347619 140347619 T G SNP PCDHAC2 ENST00000289269 human ensembl 74_37 +1 known missense c.1268 p.V423G 0.857 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 152 1 0.653595 148 16 9.7561 SH3TC2 0 genome.wustl.edu 37 5 148389903 148389903 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 148389903 148389903 A G SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known missense c.3257 p.L1086P 0.982 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 95 0 0 78 7 8.23529 ANXA6 0 genome.wustl.edu 37 5 150515865 150515865 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 150515865 150515865 G A SNP ANXA6 ENST00000354546 human ensembl 74_37 -1 known silent c.441 p.I147 0.867 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinVI,prints_AnnexinIV - no_errors ANXA6 HGNC ENSG00000197043 89 0 0 66 4 5.71429 IL12B 0 genome.wustl.edu 37 5 158743698 158743698 + Missense_Mutation SNP T T A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 158743698 158743698 T A SNP IL12B ENST00000231228 human ensembl 74_37 -1 known missense c.982 p.S328C 0.822 pirsf_IL-12_beta pirsf_IL-12_beta,pfam_IL-12_beta_cen-dom,superfamily_Fibronectin_type3,smart_Ig_sub2,prints_IL-12_beta,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IL12B HGNC ENSG00000113302 45 0 0 32 6 15.7895 WWC1 0 genome.wustl.edu 37 5 167824784 167824784 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 167824784 167824784 A C SNP WWC1 ENST00000265293 human ensembl 74_37 +1 known missense c.489 p.E163D 1.000 NULL pfam_WW_dom,superfamily_C2_dom,superfamily_WW_dom,smart_WW_dom,pfscan_WW_dom - no_errors WWC1 HGNC ENSG00000113645 153 0 0 151 12 7.36196 ZFR 0 genome.wustl.edu 37 5 32400164 32400164 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 32400164 32400164 A G SNP ZFR ENST00000265069 human ensembl 74_37 -1 known missense c.1661 p.L554P 1.000 NULL pfam_DZF,pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF - no_errors ZFR HGNC ENSG00000056097 114 0 0 90 12 11.7647 SLC45A2 0 genome.wustl.edu 37 5 33982444 33982444 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 33982444 33982444 A C SNP SLC45A2 ENST00000296589 human ensembl 74_37 -1 known missense c.459 p.D153E 0.999 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 57 0 0 53 9 14.5161 UGT3A1 0 genome.wustl.edu 37 5 35991320 35991320 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 35991320 35991320 A C SNP UGT3A1 ENST00000274278 human ensembl 74_37 -1 known missense c.23 p.L8R 0.000 NULL pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT3A1 HGNC ENSG00000145626 137 0 0 117 10 7.87402 GHR 0 genome.wustl.edu 37 5 42718874 42718874 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 42718874 42718874 A G SNP GHR ENST00000230882 human ensembl 74_37 +1 known missense c.1265 p.D422G 1.000 NULL pfam_Growth/epo_recpt_lig-bind,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors GHR HGNC ENSG00000112964 84 0 0 69 13 15.8537 MEF2C 0 genome.wustl.edu 37 5 88119701 88119701 + RNA SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 88119701 88119701 T G SNP MEF2C ENST00000509349 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors MEF2C HGNC ENSG00000081189 108 0 0 104 15 12.605 GPR98 0 genome.wustl.edu 37 5 89990213 89990213 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 5 89990213 89990213 T G SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7640 p.L2547R 0.998 NULL 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 165 1 0.60241 151 13 7.92683 TBC1D32 0 genome.wustl.edu 37 6 121576500 121576500 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 6 121576500 121576500 A G SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative silent c.1992 p.S664 0.965 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 82 0 0 77 9 10.4651 SERINC1 0 genome.wustl.edu 37 6 122779730 122779730 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 6 122779730 122779730 A G SNP SERINC1 ENST00000339697 human ensembl 74_37 -1 known silent c.136 p.L46 1.000 pfam_TMS_TDE pfam_TMS_TDE - no_errors SERINC1 HGNC ENSG00000111897 179 1 0.555556 146 13 8.1761 FOXQ1 0 genome.wustl.edu 37 6 1313596 1313596 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 6 1313596 1313596 C T SNP FOXQ1 ENST00000296839 human ensembl 74_37 +1 known silent c.657 p.R219 0.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXQ1 HGNC ENSG00000164379 39 0 0 17 8 32 SHPRH 0 genome.wustl.edu 37 6 146254276 146254276 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 6 146254276 146254276 T G SNP SHPRH ENST00000367503 human ensembl 74_37 -1 known missense c.3056 p.K1019T 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Histone_H1/H5_H15,superfamily_P-loop_NTPase,superfamily_Znf_FYVE_PHD,superfamily_WW_dom,smart_Helicase_ATP-bd,smart_Histone_H1/H5_H15,smart_Znf_PHD,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_C - no_errors SHPRH HGNC ENSG00000146414 53 0 0 46 5 9.80392 IP6K3 0 genome.wustl.edu 37 6 33703132 33703132 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 6 33703132 33703132 T C SNP IP6K3 ENST00000293756 human ensembl 74_37 -1 known missense c.122 p.K41R 1.000 NULL pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 52 0 0 50 7 12.2807 UBR2 0 genome.wustl.edu 37 6 42612227 42612227 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 6 42612227 42612227 A C SNP UBR2 ENST00000372899 human ensembl 74_37 +1 known missense c.2237 p.N746T 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR2 HGNC ENSG00000024048 102 0 0 89 10 10.101 DOPEY1 0 genome.wustl.edu 37 6 83845580 83845580 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 6 83845580 83845580 A C SNP DOPEY1 ENST00000349129 human ensembl 74_37 +1 known missense c.3113 p.N1038T 0.998 superfamily_ARM-type_fold pfam_Dopey_N,superfamily_ARM-type_fold - no_errors DOPEY1 HGNC ENSG00000083097 58 0 0 44 6 12 MUC17 0 genome.wustl.edu 37 7 100686766 100686766 + Silent SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 100686766 100686766 T G SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known silent c.12069 p.T4023 0.016 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 200 0 0 217 16 6.86695 CTTNBP2 0 genome.wustl.edu 37 7 117432071 117432071 + Silent SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 117432071 117432071 A G SNP CTTNBP2 ENST00000160373 human ensembl 74_37 -1 known silent c.1179 p.D393 0.005 NULL pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors CTTNBP2 HGNC ENSG00000077063 236 0 0 207 47 18.5039 TSPAN12 0 genome.wustl.edu 37 7 120446622 120446622 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 120446622 120446622 A G SNP TSPAN12 ENST00000222747 human ensembl 74_37 -1 known missense c.593 p.L198P 1.000 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2 pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN12 HGNC ENSG00000106025 83 0 0 71 6 7.79221 IQUB 0 genome.wustl.edu 37 7 123119949 123119949 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 123119949 123119949 A G SNP IQUB ENST00000324698 human ensembl 74_37 -1 known missense c.1310 p.L437P 1.000 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors IQUB HGNC ENSG00000164675 67 0 0 75 13 14.7727 AGR3 0 genome.wustl.edu 37 7 16900136 16900136 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 16900136 16900136 C T SNP AGR3 ENST00000310398 human ensembl 74_37 -1 known missense c.439 p.D147N 1.000 superfamily_Thioredoxin-like_fold superfamily_Thioredoxin-like_fold - no_errors AGR3 HGNC ENSG00000173467 113 0 0 137 15 9.86842 KBTBD2 0 genome.wustl.edu 37 7 32909212 32909212 + Silent SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 32909212 32909212 T C SNP KBTBD2 ENST00000304056 human ensembl 74_37 -1 known silent c.1617 p.R539 1.000 pirsf_Kelch-like_gigaxonin pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD2 HGNC ENSG00000170852 156 0 0 118 34 22.3684 FKBP9 0 genome.wustl.edu 37 7 33014900 33014900 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 33014900 33014900 T G SNP FKBP9 ENST00000538336 human ensembl 74_37 +1 known missense c.633 p.S211R 0.010 NULL pfam_PPIase_FKBP_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_PPIase_FKBP_dom - no_errors FKBP9 HGNC ENSG00000122642 122 0 0 91 21 18.75 COL1A2 0 genome.wustl.edu 37 7 94041406 94041406 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 94041406 94041406 C T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known silent c.1377 p.I459 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 30 0 0 27 4 12.9032 DLX6 0 genome.wustl.edu 37 7 96639182 96639182 + Silent SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 96639182 96639182 C T SNP DLX6 ENST00000518156 human ensembl 74_37 +1 known silent c.705 p.S235 0.724 superfamily_Homeodomain-like pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif,prints_Homeobox_metazoa - no_errors DLX6 HGNC ENSG00000006377 105 0 0 94 10 9.61538 ZNF789 0 genome.wustl.edu 37 7 99077375 99077375 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 7 99077375 99077375 T C SNP ZNF789 ENST00000331410 human ensembl 74_37 +1 known missense c.116 p.V39A 0.945 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF789 HGNC ENSG00000198556 131 0 0 102 19 15.7025 ZFPM2 0 genome.wustl.edu 37 8 106813442 106813442 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 106813442 106813442 T G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1132 p.L378V 0.985 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 224 1 0.444444 189 20 9.56938 BLK 0 genome.wustl.edu 37 8 11421550 11421550 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 11421550 11421550 A G SNP BLK ENST00000259089 human ensembl 74_37 +1 known missense c.1451 p.E484G 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,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,prints_SH3_domain - no_errors BLK HGNC ENSG00000136573 22 0 0 16 4 20 AARD 0 genome.wustl.edu 37 8 117954916 117954916 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 117954916 117954916 A C SNP AARD ENST00000378279 human ensembl 74_37 +1 known missense c.444 p.K148N 0.033 NULL NULL - no_errors AARD HGNC ENSG00000205002 77 0 0 92 5 5.15464 DEFB134 0 genome.wustl.edu 37 8 11851601 11851601 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 11851601 11851601 T C SNP DEFB134 ENST00000526438 human ensembl 74_37 -1 known missense c.89 p.K30R 0.000 NULL NULL - no_errors DEFB134 HGNC ENSG00000205882 99 0 0 99 7 6.60377 FER1L6 0 genome.wustl.edu 37 8 125082784 125082784 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 125082784 125082784 A G SNP FER1L6 ENST00000399018 human ensembl 74_37 +1 known missense c.3911 p.K1304R 1.000 NULL pfam_C2_dom,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_dom,superfamily_ABC1_TM_dom,smart_C2_dom,pfscan_C2_dom - no_errors FER1L6 HGNC ENSG00000214814 146 0 0 120 16 11.7647 GSDMC 0 genome.wustl.edu 37 8 130761760 130761760 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 130761760 130761760 A C SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.1225 p.F409V 0.061 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 95 0 0 94 15 13.7615 TG 0 genome.wustl.edu 37 8 133899716 133899716 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 133899716 133899716 A G SNP TG ENST00000220616 human ensembl 74_37 +1 known missense c.2099 p.N700S 0.002 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_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 104 0 0 93 13 12.2642 PUF60 0 genome.wustl.edu 37 8 144899113 144899113 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 144899113 144899113 G A SNP PUF60 ENST00000526683 human ensembl 74_37 -1 known silent c.1347 p.H449 1.000 NULL pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PolyU-bd - no_errors PUF60 HGNC ENSG00000179950 14 0 0 16 3 15.7895 MTUS1 0 genome.wustl.edu 37 8 17504590 17504590 + Splice_Site SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 17504590 17504590 T G SNP MTUS1 ENST00000262102 human ensembl 74_37 -1 known splice_site c.3502-2 e13-2 0.987 - - - no_errors MTUS1 HGNC ENSG00000129422 74 0 0 82 7 7.86517 MCM4 0 genome.wustl.edu 37 8 48883436 48883436 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 48883436 48883436 G A SNP MCM4 ENST00000262105 human ensembl 74_37 +1 known silent c.1800 p.K600 1.000 pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_DNA-dep_ATPase pfam_MCM_DNA-dep_ATPase,pfam_Mg_chelatse_chII,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_NA-bd_OB-fold,superfamily_P-loop_NTPase,smart_MCM_DNA-dep_ATPase,pfscan_MCM_DNA-dep_ATPase,prints_MCM_4,prints_MCM_DNA-dep_ATPase - no_errors MCM4 HGNC ENSG00000104738 89 0 0 83 13 13.5417 PREX2 0 genome.wustl.edu 37 8 68942747 68942747 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 68942747 68942747 A G SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.559 p.T187A 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 52 0 0 47 4 7.84314 ZFHX4 0 genome.wustl.edu 37 8 77764117 77764117 + Missense_Mutation SNP A A G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 8 77764117 77764117 A G SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4960 p.S1654G 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 87 0 0 72 5 6.49351 FOXE1 0 genome.wustl.edu 37 9 100616468 100616468 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 100616468 100616468 G A SNP FOXE1 ENST00000375123 human ensembl 74_37 +1 known missense c.272 p.R91H 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXE1 HGNC ENSG00000178919 85 0 0 76 7 8.43373 LPPR1 0 genome.wustl.edu 37 9 104075105 104075105 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 104075105 104075105 C T SNP LPPR1 ENST00000374874 human ensembl 74_37 +1 known missense c.662 p.T221M 1.000 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR1 Uniprot_gn ENSG00000148123 102 0 0 97 11 10.1852 ZNF462 0 genome.wustl.edu 37 9 109736459 109736459 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 109736459 109736459 T C SNP ZNF462 ENST00000457913 human ensembl 74_37 +1 known missense c.6917 p.V2306A 0.999 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 392 0 0 362 44 10.8374 OR2K2 0 genome.wustl.edu 37 9 114090461 114090461 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 114090461 114090461 A C SNP OR2K2 ENST00000374428 human ensembl 74_37 -1 known missense c.340 p.L114V 0.982 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2K2 HGNC ENSG00000171133 56 0 0 51 4 7.27273 TLR4 0 genome.wustl.edu 37 9 120475898 120475898 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 120475898 120475898 T G SNP TLR4 ENST00000355622 human ensembl 74_37 +1 known missense c.1492 p.L498V 0.773 pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 116 0 0 90 9 9.09091 SMARCA2 0 genome.wustl.edu 37 9 2123719 2123719 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 2123719 2123719 C T SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.3763 p.R1255W 1.000 superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 64 0 0 69 7 9.21053 RNF38 0 genome.wustl.edu 37 9 36357894 36357894 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 36357894 36357894 C T SNP RNF38 ENST00000259605 human ensembl 74_37 -1 known missense c.616 p.A206T 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF38 HGNC ENSG00000137075 113 1 0.877193 104 8 7.14286 TRPM3 0 genome.wustl.edu 37 9 73240173 73240173 + Silent SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 9 73240173 73240173 A C SNP TRPM3 ENST00000423814 human ensembl 74_37 -1 known silent c.1788 p.A596 0.178 NULL pfam_Ion_trans_dom - no_errors TRPM3 HGNC ENSG00000083067 53 0 0 41 5 10.8696 TRPC5 0 genome.wustl.edu 37 X 111022219 111022219 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 111022219 111022219 A C SNP TRPC5 ENST00000262839 human ensembl 74_37 -1 known missense c.2226 p.N742K 1.000 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC5_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC5 HGNC ENSG00000072315 35 0 0 27 13 32.5 USP26 0 genome.wustl.edu 37 X 132160633 132160633 + Missense_Mutation SNP A A C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 132160633 132160633 A C SNP USP26 ENST00000370832 human ensembl 74_37 -1 known missense c.1616 p.V539G 0.034 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP26 HGNC ENSG00000134588 99 0 0 127 7 5.22388 ARHGEF6 0 genome.wustl.edu 37 X 135825841 135825841 + Silent SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 135825841 135825841 G A SNP ARHGEF6 ENST00000250617 human ensembl 74_37 -1 known silent c.564 p.Y188 0.045 pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_SM22_calponin - no_errors ARHGEF6 HGNC ENSG00000129675 109 1 0.909091 88 16 15.3846 L1CAM 0 genome.wustl.edu 37 X 153134383 153134383 + Missense_Mutation SNP G G A TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 153134383 153134383 G A SNP L1CAM ENST00000543994 human ensembl 74_37 -1 known missense c.1298 p.A433V 0.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors L1CAM HGNC ENSG00000198910 79 0 0 64 4 5.88235 ARHGAP4 0 genome.wustl.edu 37 X 153176006 153176006 + Missense_Mutation SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 153176006 153176006 C T SNP ARHGAP4 ENST00000350060 human ensembl 74_37 -1 known missense c.1876 p.A626T 0.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_FCH_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH_dom,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP4 HGNC ENSG00000089820 22 0 0 25 7 21.875 REPS2 0 genome.wustl.edu 37 X 17080602 17080602 + Missense_Mutation SNP T T C TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 17080602 17080602 T C SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known missense c.1156 p.Y386H 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 52 0 0 39 21 35 MAOB 0 genome.wustl.edu 37 X 43662581 43662581 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 43662581 43662581 T G SNP MAOB ENST00000378069 human ensembl 74_37 -1 known missense c.350 p.N117T 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase - no_errors MAOB HGNC ENSG00000069535 48 0 0 45 20 30.7692 ZNF630 0 genome.wustl.edu 37 X 47918755 47918755 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 47918755 47918755 T G SNP ZNF630 ENST00000409324 human ensembl 74_37 -1 known missense c.1076 p.K359T 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF630 HGNC ENSG00000221994 45 0 0 37 18 32.7273 KIAA2022 0 genome.wustl.edu 37 X 73961294 73961294 + Missense_Mutation SNP T T G TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 73961294 73961294 T G SNP KIAA2022 ENST00000055682 human ensembl 74_37 -1 known missense c.3098 p.K1033T 1.000 NULL NULL - no_errors KIAA2022 HGNC ENSG00000050030 62 0 0 80 5 5.88235 RNA5-8SP6 0 genome.wustl.edu 37 Y 10037843 10037843 + RNA SNP C C T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d Y 10037843 10037843 C T SNP RNA5-8SP6 ENST00000515896 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNA5-8SP6 HGNC ENSG00000251705 16 0 0 13 4 23.5294 CDK12 0 genome.wustl.edu 37 17 37619151 37619152 + Frame_Shift_Ins INS - - T TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 17 37619151 37619152 - T INS CDK12 ENST00000447079 human ensembl 74_37 +1 known frame_shift_ins c.827_828 p.P277fs 0.998:0.998 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 CDK12 HGNC ENSG00000167258 139 0 0 128 20 13.5135 OR10H1 0 genome.wustl.edu 37 19 15918794 15918795 + Frame_Shift_Del DEL AG AG - TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 19 15918794 15918795 AG - DEL OR10H1 ENST00000334920 human ensembl 74_37 -1 known frame_shift_del c.54_53 p.S18fs 0.003:0.738 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10H1 HGNC ENSG00000186723 295 0 0 219 20 8.3682 PTPRT 0 genome.wustl.edu 37 20 40739009 40739009 + Frame_Shift_Del DEL T T - TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 40739009 40739009 T - DEL PTPRT ENST00000373198 human ensembl 74_37 -1 known frame_shift_del c.3275 p.N1092fs 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRT HGNC ENSG00000196090 75 0 0 70 14 16.6667 TPD52L2 0 genome.wustl.edu 37 20 62505127 62505128 + Frame_Shift_Del DEL AG AG - TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d 20 62505127 62505128 AG - DEL TPD52L2 ENST00000217121 human ensembl 74_37 +1 known frame_shift_del c.272_273 p.N92fs 1.000:1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L2 HGNC ENSG00000101150 35 0 0 45 7 13.4615 TAF9B 0 genome.wustl.edu 37 X 77387203 77387205 + In_Frame_Del DEL AAG AAG - TCGA-BR-6706-01A-11D-1882-08 TCGA-BR-6706-10A-01D-1882-08 AAG AAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 41ef4abd-e2b5-477c-9853-ac828578ba3f 85807506-a71e-46b6-b09d-26e8ec73ac1d X 77387203 77387205 AAG - DEL TAF9B ENST00000341864 human ensembl 74_37 -1 known in_frame_del c.660_658 p.L220in_frame_del 1.000:1.000:1.000 NULL pfam_TFIID-31,superfamily_Histone-fold - no_errors TAF9B HGNC ENSG00000187325 154 0 0 147 20 11.976