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 PSMA5 0 genome.wustl.edu 37 1 109944620 109944620 + RNA SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 109944620 109944620 G A SNP PSMA5 ENST00000490870 human ensembl 74_37 -1 known rna NULL NULL 0.968 - - - no_errors PSMA5 HGNC ENSG00000143106 129 0 0 138 52 27.3684 GPR61 0 genome.wustl.edu 37 1 110085853 110085853 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 110085853 110085853 C T SNP GPR61 ENST00000404129 human ensembl 74_37 +1 known missense c.209 p.T70M 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR61 HGNC ENSG00000156097 176 0 0 168 49 22.5806 CHI3L2 0 genome.wustl.edu 37 1 111773550 111773550 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 111773550 111773550 A G SNP CHI3L2 ENST00000369748 human ensembl 74_37 +1 known missense c.257 p.N86S 0.388 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors CHI3L2 HGNC ENSG00000064886 45 0 0 31 14 31.1111 LOC101929099 0 genome.wustl.edu 37 1 117568128 117568128 + RNA SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 117568128 117568128 T C SNP LOC101929099 ENST00000445523 human ensembl 74_37 -1 known rna NULL NULL 0.777 - - - no_errors RP11-27K13.3 Clone_based_vega_gene ENSG00000236137 87 0 0 106 29 21.4815 LCE3D 0 genome.wustl.edu 37 1 152552306 152552306 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 152552306 152552306 C A SNP LCE3D ENST00000368787 human ensembl 74_37 -1 known missense c.107 p.G36V 0.890 NULL NULL - no_errors LCE3D HGNC ENSG00000163202 165 0 0 206 42 16.9355 RAB13 0 genome.wustl.edu 37 1 153958684 153958684 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 153958684 153958684 T G SNP RAB13 ENST00000368575 human ensembl 74_37 -1 known missense c.29 p.K10T 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB13 HGNC ENSG00000143545 24 0 0 27 5 15.625 ASH1L 0 genome.wustl.edu 37 1 155448757 155448757 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 155448757 155448757 G A SNP ASH1L ENST00000368346 human ensembl 74_37 -1 known missense c.3904 p.R1302W 1.000 NULL pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 184 0 0 203 53 20.7031 GPATCH4 0 genome.wustl.edu 37 1 156567853 156567853 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 156567853 156567853 T G SNP GPATCH4 ENST00000438976 human ensembl 74_37 -1 known missense c.322 p.N108H 0.751 NULL pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom - no_errors GPATCH4 HGNC ENSG00000160818 173 0 0 311 21 6.3253 ENSG00000227217 0 genome.wustl.edu 37 1 157666239 157666239 + RNA SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 157666239 157666239 A C SNP ENSG00000227217 ENST00000453692 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-367J7.3 Clone_based_vega_gene ENSG00000227217 16 0 0 18 6 25 SPTA1 0 genome.wustl.edu 37 1 158590112 158590112 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 158590112 158590112 A T SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6265 p.L2089M 0.996 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_hand_dom,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 89 0 0 107 15 12.2951 PPOX 0 genome.wustl.edu 37 1 161140706 161140706 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 161140706 161140706 C A SNP PPOX ENST00000352210 human ensembl 74_37 +1 known missense c.1258 p.P420T 1.000 pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase pfam_Amino_oxidase,tigrfam_Protoporphyrinogen_oxidase - no_errors PPOX HGNC ENSG00000143224 237 0 0 280 71 20.2279 OLFML2B 0 genome.wustl.edu 37 1 161967729 161967729 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 161967729 161967729 G A SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1360 p.P454S 0.046 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 162 0 0 177 45 20.2703 SPEN 0 genome.wustl.edu 37 1 16260874 16260874 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 16260874 16260874 C A SNP SPEN ENST00000375759 human ensembl 74_37 +1 known silent c.8139 p.A2713 0.971 NULL pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC_like_C_dom,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom - no_errors SPEN HGNC ENSG00000065526 107 0 0 152 45 22.8426 NBPF1 0 genome.wustl.edu 37 1 16914255 16914255 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 16914255 16914255 C T SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel silent c.531 p.E177 0.028 NULL pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 1239 0 0 1752 131 6.95698 BLZF1 0 genome.wustl.edu 37 1 169349731 169349731 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 169349731 169349731 T A SNP BLZF1 ENST00000329281 human ensembl 74_37 +1 known missense c.681 p.D227E 1.000 NULL pfam_Hsk3_like - no_errors BLZF1 HGNC ENSG00000117475 105 0 0 84 40 32.2581 PRRX1 0 genome.wustl.edu 37 1 170699383 170699383 + RNA SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 170699383 170699383 T A SNP PRRX1 ENST00000485529 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors PRRX1 HGNC ENSG00000116132 256 0 0 318 45 12.3967 PAPPA2 0 genome.wustl.edu 37 1 176661333 176661333 + Nonsense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 176661333 176661333 C T SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known nonsense c.2503 p.Q835* 1.000 superfamily_Fibronectin_type3 pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 245 0 0 303 73 19.4149 RGS8 0 genome.wustl.edu 37 1 182641984 182641984 + RNA SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 182641984 182641984 T A SNP RGS8 ENST00000491420 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors RGS8 HGNC ENSG00000135824 135 0 0 149 32 17.6796 BRINP3 0 genome.wustl.edu 37 1 190067498 190067498 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 190067498 190067498 A C SNP BRINP3 ENST00000367462 human ensembl 74_37 -1 known missense c.1951 p.F651V 0.999 NULL pfam_MACPF,smart_MACPF - no_errors BRINP3 HGNC ENSG00000162670 240 1 0.414938 203 60 22.8137 CELA3A 0 genome.wustl.edu 37 1 22329520 22329520 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 22329520 22329520 C T SNP CELA3A ENST00000290122 human ensembl 74_37 +1 known missense c.68 p.S23F 0.000 superfamily_Trypsin-like_Pept_dom pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA3A HGNC ENSG00000142789 109 0 0 553 66 10.6624 LBR 0 genome.wustl.edu 37 1 225594439 225594439 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 225594439 225594439 G C SNP LBR ENST00000272163 human ensembl 74_37 -1 known missense c.1410 p.F470L 0.779 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 82 0 0 131 46 25.9887 OR2T3 0 genome.wustl.edu 37 1 248637452 248637452 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 248637452 248637452 G A SNP OR2T3 ENST00000359594 human ensembl 74_37 +1 known silent c.801 p.P267 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 OR2T3 HGNC ENSG00000196539 589 0 0 868 62 6.66667 OR2T34 0 genome.wustl.edu 37 1 248737258 248737258 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 248737258 248737258 C T SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known silent c.801 p.R267 0.001 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 OR2T34 HGNC ENSG00000183310 34 0 0 36 17 32.0755 CCDC28B 0 genome.wustl.edu 37 1 32670295 32670295 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 32670295 32670295 G A SNP CCDC28B ENST00000421922 human ensembl 74_37 +1 putative missense c.622 p.E208K 0.009 NULL NULL - no_errors CCDC28B HGNC ENSG00000160050 167 0 0 265 51 16.1392 AGO4 0 genome.wustl.edu 37 1 36297664 36297664 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 36297664 36297664 A C SNP AGO4 ENST00000373210 human ensembl 74_37 +1 known missense c.1123 p.S375R 1.000 superfamily_PAZ_dom pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO4 HGNC ENSG00000134698 286 1 0.348432 247 76 23.5294 B4GALT2 0 genome.wustl.edu 37 1 44450633 44450633 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 44450633 44450633 G A SNP B4GALT2 ENST00000309519 human ensembl 74_37 +1 known missense c.733 p.D245N 1.000 pfam_Galactosyl_T_C,prints_Galactosyl_T pfam_Galactosyl_T_C,prints_Galactosyl_T - no_errors B4GALT2 HGNC ENSG00000117411 69 0 0 82 22 21.1538 AJAP1 0 genome.wustl.edu 37 1 4772679 4772679 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 4772679 4772679 T G SNP AJAP1 ENST00000378190 human ensembl 74_37 +1 known missense c.749 p.V250G 0.490 NULL NULL - no_errors AJAP1 HGNC ENSG00000196581 159 0 0 205 50 19.6078 DNAJC11 0 genome.wustl.edu 37 1 6706032 6706032 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 6706032 6706032 C T SNP DNAJC11 ENST00000377577 human ensembl 74_37 -1 known silent c.711 p.V237 0.963 NULL pfam_DnaJ-like_C11_C,pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC11 HGNC ENSG00000007923 150 0 0 281 81 22.3757 PER3 0 genome.wustl.edu 37 1 7848192 7848192 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 7848192 7848192 G C SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.478 p.D160H 0.759 smart_PAS pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 207 0 0 271 51 15.8385 TMEM180 0 genome.wustl.edu 37 10 104230737 104230737 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 104230737 104230737 C G SNP TMEM180 ENST00000238936 human ensembl 74_37 +1 known missense c.567 p.F189L 1.000 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_errors TMEM180 HGNC ENSG00000138111 204 0 0 212 64 23.1884 TAF5 0 genome.wustl.edu 37 10 105146935 105146935 + Silent SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 105146935 105146935 C G SNP TAF5 ENST00000369839 human ensembl 74_37 +1 known silent c.1833 p.L611 0.937 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TAF5 HGNC ENSG00000148835 78 0 0 78 19 19.5876 NEURL 0 genome.wustl.edu 37 10 105331460 105331460 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 105331460 105331460 G C SNP NEURL ENST00000369780 human ensembl 74_37 +1 known missense c.530 p.R177P 0.999 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 82 0 0 128 23 15.2318 ZDHHC6 0 genome.wustl.edu 37 10 114205154 114205154 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 114205154 114205154 T C SNP ZDHHC6 ENST00000369405 human ensembl 74_37 -1 known missense c.41 p.Q14R 1.000 NULL pfam_Znf_DHHC_palmitoyltrfase,pfam_SH3_2,superfamily_SH3_domain,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC6 HGNC ENSG00000023041 84 0 0 136 24 15 TRUB1 0 genome.wustl.edu 37 10 116735016 116735016 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 116735016 116735016 C G SNP TRUB1 ENST00000298746 human ensembl 74_37 +1 known missense c.928 p.L310V 1.000 superfamily_PsdUridine_synth_cat_dom pfam_PsdUridine_synth,superfamily_PsdUridine_synth_cat_dom,tigrfam_tRNA_psdUridine_synth_TruB - no_errors TRUB1 HGNC ENSG00000165832 248 0 0 210 80 27.5862 PTPRE 0 genome.wustl.edu 37 10 129868079 129868079 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 129868079 129868079 G A SNP PTPRE ENST00000254667 human ensembl 74_37 +1 known missense c.1131 p.M377I 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,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 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRE HGNC ENSG00000132334 109 0 0 104 36 25.7143 MRC1 0 genome.wustl.edu 37 10 18196558 18196558 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 18196558 18196558 G A SNP MRC1 ENST00000239761 human ensembl 74_37 +1 known missense c.4009 p.A1337T 0.203 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 130 0 0 146 52 26.2626 SLC39A12 0 genome.wustl.edu 37 10 18270258 18270258 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 18270258 18270258 G T SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known missense c.942 p.R314S 0.940 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 84 0 0 131 25 16.0256 ZNF37A 0 genome.wustl.edu 37 10 38407159 38407159 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 38407159 38407159 T G SNP ZNF37A ENST00000351773 human ensembl 74_37 +1 known missense c.1080 p.C360W 1.000 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 ZNF37A HGNC ENSG00000075407 155 0 0 167 31 15.6566 ZNF37A 0 genome.wustl.edu 37 10 38407163 38407163 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 38407163 38407163 A G SNP ZNF37A ENST00000351773 human ensembl 74_37 +1 known missense c.1084 p.K362E 0.088 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 ZNF37A HGNC ENSG00000075407 153 0 0 161 29 15.2632 DLG5 0 genome.wustl.edu 37 10 79566548 79566548 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 79566548 79566548 C G SNP DLG5 ENST00000372391 human ensembl 74_37 -1 known missense c.4935 p.K1645N 1.000 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_PDZ,pfam_DUF622,pfam_GK/Ca_channel_bsu,superfamily_P-loop_NTPase,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like_dom,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG5 HGNC ENSG00000151208 146 0 0 127 49 27.8409 MINPP1 0 genome.wustl.edu 37 10 89272968 89272968 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 89272968 89272968 A T SNP MINPP1 ENST00000371996 human ensembl 74_37 +1 known missense c.923 p.D308V 1.000 pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk pfam_His_Pase_superF_clade-2,pirsf_Histidine_acid_Pase_euk - no_errors MINPP1 HGNC ENSG00000107789 113 0 0 118 45 27.6074 PPP1R3C 0 genome.wustl.edu 37 10 93389974 93389974 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 93389974 93389974 A G SNP PPP1R3C ENST00000238994 human ensembl 74_37 -1 known silent c.664 p.L222 1.000 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 pfam_CBM_21,pirsf_Pase-1_Glycogen_target-su_met,pfscan_CBM_21 - no_errors PPP1R3C HGNC ENSG00000119938 162 0 0 154 43 21.8274 SLIT1 0 genome.wustl.edu 37 10 98806446 98806446 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 98806446 98806446 G A SNP SLIT1 ENST00000266058 human ensembl 74_37 -1 known silent c.1818 p.S606 0.389 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_EG-like_dom,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT1 HGNC ENSG00000187122 44 0 0 38 17 30.9091 DYNC2H1 0 genome.wustl.edu 37 11 103027360 103027360 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 103027360 103027360 A G SNP DYNC2H1 ENST00000398093 human ensembl 74_37 +1 known missense c.3988 p.R1330G 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 36 0 0 53 21 28.3784 AMICA1 0 genome.wustl.edu 37 11 118071269 118071269 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 118071269 118071269 G C SNP AMICA1 ENST00000356289 human ensembl 74_37 -1 known missense c.831 p.I277M 1.000 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors AMICA1 HGNC ENSG00000160593 78 0 0 155 16 9.35673 FOXRED1 0 genome.wustl.edu 37 11 126147540 126147540 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 126147540 126147540 C T SNP FOXRED1 ENST00000263578 human ensembl 74_37 +1 known missense c.1417 p.R473C 0.975 NULL pfam_FAD-dep_OxRdtase - no_errors FOXRED1 HGNC ENSG00000110074 93 0 0 82 32 28.0702 KIRREL3 0 genome.wustl.edu 37 11 126396494 126396494 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 126396494 126396494 G A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.222 p.Y74 0.998 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 29 0 0 18 6 25 EXT2 0 genome.wustl.edu 37 11 44148397 44148397 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 44148397 44148397 C A SNP EXT2 ENST00000395673 human ensembl 74_37 +1 known missense c.1070 p.A357D 1.000 pfam_Exostosin pfam_HexNAc_Trfase_a,pfam_Exostosin - no_errors EXT2 HGNC ENSG00000151348 286 0 0 249 94 27.4052 LOC440040 0 genome.wustl.edu 37 11 49831415 49831415 + RNA SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 49831415 49831415 T G SNP LOC440040 ENST00000527477 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors RP11-707M1.1 Clone_based_vega_gene ENSG00000205035 68 0 0 43 13 23.2143 RNH1 0 genome.wustl.edu 37 11 500634 500634 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 500634 500634 G A SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.122 p.T41M 0.867 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 48 0 0 44 21 32.3077 OR5M10 0 genome.wustl.edu 37 11 56345186 56345186 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 56345186 56345186 T C SNP OR5M10 ENST00000526812 human ensembl 74_37 -1 known silent c.12 p.P4 0.094 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M10 HGNC ENSG00000254834 112 0 0 74 26 26 DDB1 0 genome.wustl.edu 37 11 61097044 61097044 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 61097044 61097044 G A SNP DDB1 ENST00000301764 human ensembl 74_37 -1 known missense c.340 p.R114C 1.000 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors DDB1 HGNC ENSG00000167986 21 0 0 22 11 33.3333 SLC22A25 0 genome.wustl.edu 37 11 62933697 62933697 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 62933697 62933697 A C SNP SLC22A25 ENST00000306494 human ensembl 74_37 -1 known silent c.1104 p.T368 0.000 pfam_MFS,pfam_Sub_transporter,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 SLC22A25 HGNC ENSG00000196600 64 0 0 48 10 17.2414 SLC22A10 0 genome.wustl.edu 37 11 63058038 63058038 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 63058038 63058038 A C SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.401 p.K134T 0.935 pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 82 0 0 107 20 15.748 PCNXL3 0 genome.wustl.edu 37 11 65385537 65385537 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 65385537 65385537 C T SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.704 p.T235I 0.993 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 16 0 0 13 8 38.0952 PCNXL3 0 genome.wustl.edu 37 11 65385540 65385540 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 65385540 65385540 C A SNP PCNXL3 ENST00000355703 human ensembl 74_37 +1 known missense c.707 p.P236H 1.000 NULL pfam_Pecanex - no_errors PCNXL3 HGNC ENSG00000197136 14 0 0 15 7 31.8182 CLCF1 0 genome.wustl.edu 37 11 67132822 67132822 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 67132822 67132822 C T SNP CLCF1 ENST00000312438 human ensembl 74_37 -1 known missense c.463 p.G155S 1.000 pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_PRF,pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CLCF1 HGNC ENSG00000175505 25 0 0 22 17 43.5897 OR10A2 0 genome.wustl.edu 37 11 6891165 6891165 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 6891165 6891165 C G SNP OR10A2 ENST00000307322 human ensembl 74_37 +1 known missense c.180 p.F60L 0.912 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 OR10A2 HGNC ENSG00000170790 230 0 0 225 63 21.875 ME3 0 genome.wustl.edu 37 11 86158244 86158244 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 86158244 86158244 C T SNP ME3 ENST00000359636 human ensembl 74_37 -1 known missense c.1243 p.A415T 1.000 pfam_Malic_NAD-bd,smart_Malic_NAD-bd pfam_Malic_NAD-bd,pfam_Malic_N,smart_Malic_NAD-bd,prints_Malic_OxRdtase - no_errors ME3 HGNC ENSG00000151376 86 0 0 104 26 20 TYR 0 genome.wustl.edu 37 11 88911583 88911583 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 11 88911583 88911583 G A SNP TYR ENST00000263321 human ensembl 74_37 +1 known silent c.462 p.G154 0.968 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 260 1 0.383142 282 55 16.3205 DDX54 0 genome.wustl.edu 37 12 113617046 113617046 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 113617046 113617046 C T SNP DDX54 ENST00000314045 human ensembl 74_37 -1 known missense c.466 p.E156K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DBP10CT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX54 HGNC ENSG00000123064 44 0 0 55 18 24.6575 KIAA1467 0 genome.wustl.edu 37 12 13221366 13221366 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 13221366 13221366 T G SNP KIAA1467 ENST00000197268 human ensembl 74_37 +1 known missense c.1271 p.L424R 0.299 NULL superfamily_Quinonprotein_ADH-like_supfam - no_errors KIAA1467 HGNC ENSG00000084444 216 2 0.917431 203 68 25.0923 ZNF268 0 genome.wustl.edu 37 12 133780428 133780428 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 133780428 133780428 C A SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.2156 p.T719K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF268 HGNC ENSG00000090612 10 0 0 7 6 46.1538 ABCC9 0 genome.wustl.edu 37 12 21962818 21962818 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 21962818 21962818 T A SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.4283 p.K1428M 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 218 0 0 165 53 24.3119 ABCC9 0 genome.wustl.edu 37 12 21970208 21970208 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 21970208 21970208 A T SNP ABCC9 ENST00000261200 human ensembl 74_37 -1 known missense c.3805 p.L1269M 1.000 superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_Sulphorea_rcpt,prints_Sulphonylurea_rcpt-2 - no_errors ABCC9 HGNC ENSG00000069431 175 0 0 184 51 21.7021 LINC00477 0 genome.wustl.edu 37 12 24737049 24737049 + RNA SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 24737049 24737049 A G SNP LINC00477 ENST00000483544 human ensembl 74_37 -1 known rna NULL NULL 0.439 - - - no_errors LINC00477 HGNC ENSG00000197503 203 1 0.490196 211 13 5.80357 CACNA1C 0 genome.wustl.edu 37 12 2558191 2558191 + Nonsense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 2558191 2558191 T A SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known nonsense c.527 p.L176* 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 30 0 0 34 6 15 CPNE8 0 genome.wustl.edu 37 12 39047814 39047814 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 39047814 39047814 C G SNP CPNE8 ENST00000331366 human ensembl 74_37 -1 known missense c.1565 p.R522T 1.000 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A - no_errors CPNE8 HGNC ENSG00000139117 71 0 0 82 12 12.766 CNTN1 0 genome.wustl.edu 37 12 41333276 41333276 + Silent SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 41333276 41333276 C G SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known silent c.1368 p.V456 0.993 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN1 HGNC ENSG00000018236 72 0 0 57 24 29.6296 PDZRN4 0 genome.wustl.edu 37 12 41900462 41900462 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 41900462 41900462 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known missense c.1048 p.R350C 0.777 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 119 0 0 133 10 6.99301 SLC38A4 0 genome.wustl.edu 37 12 47172136 47172136 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 47172136 47172136 G C SNP SLC38A4 ENST00000266579 human ensembl 74_37 -1 known missense c.1009 p.P337A 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC38A4 HGNC ENSG00000139209 87 0 0 94 21 18.2609 TMEM106C 0 genome.wustl.edu 37 12 48361948 48361948 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 48361948 48361948 T A SNP TMEM106C ENST00000429772 human ensembl 74_37 +1 known missense c.689 p.M230K 0.066 pfam_DUF1356_TMEM106 pfam_DUF1356_TMEM106 - no_errors TMEM106C HGNC ENSG00000134291 203 0 0 367 50 11.9904 KRT72 0 genome.wustl.edu 37 12 52981470 52981470 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 52981470 52981470 C T SNP KRT72 ENST00000293745 human ensembl 74_37 -1 known missense c.1255 p.A419T 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT72 HGNC ENSG00000170486 129 0 0 88 57 39.3103 KRT18 0 genome.wustl.edu 37 12 53346603 53346603 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 53346603 53346603 G T SNP KRT18 ENST00000388835 human ensembl 74_37 +1 known missense c.1270 p.D424Y 1.000 NULL pfam_IF,prints_Keratin_I - no_errors KRT18 HGNC ENSG00000111057 62 0 0 68 7 9.33333 SCARNA10 0 genome.wustl.edu 37 12 6619420 6619420 + RNA SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 6619420 6619420 A C SNP SCARNA10 ENST00000459255 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors SCARNA10 HGNC ENSG00000239002 220 0 0 201 126 38.5321 CCER1 0 genome.wustl.edu 37 12 91348107 91348107 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 91348107 91348107 C T SNP CCER1 ENST00000358859 human ensembl 74_37 -1 known missense c.413 p.G138D 0.055 NULL NULL - no_errors CCER1 HGNC ENSG00000197651 34 0 0 45 15 25 WNK1 0 genome.wustl.edu 37 12 994221 994221 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 12 994221 994221 A G SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known silent c.5745 p.T1915 0.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 218 0 0 278 28 9.15033 MYO16 0 genome.wustl.edu 37 13 109753233 109753233 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 109753233 109753233 C G SNP MYO16 ENST00000356711 human ensembl 74_37 +1 known missense c.3370 p.Q1124E 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 44 0 0 45 20 30.7692 SPACA7 0 genome.wustl.edu 37 13 113030779 113030779 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 113030779 113030779 G T SNP SPACA7 ENST00000283550 human ensembl 74_37 +1 known missense c.80 p.R27I 0.000 NULL NULL - no_errors SPACA7 HGNC ENSG00000153498 28 0 0 40 7 14.8936 MTUS2 0 genome.wustl.edu 37 13 29600629 29600629 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 29600629 29600629 C A SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known silent c.1824 p.P608 0.998 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 72 0 0 66 8 10.8108 STARD13 0 genome.wustl.edu 37 13 33700296 33700296 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 33700296 33700296 G C SNP STARD13 ENST00000336934 human ensembl 74_37 -1 known missense c.2004 p.H668Q 0.981 pfscan_RhoGAP_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors STARD13 HGNC ENSG00000133121 196 0 0 176 109 38.2456 ZC3H13 0 genome.wustl.edu 37 13 46542897 46542897 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 46542897 46542897 C T SNP ZC3H13 ENST00000242848 human ensembl 74_37 -1 known missense c.3782 p.R1261Q 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H13 HGNC ENSG00000123200 238 0 0 273 67 19.7059 LOC101927016 0 genome.wustl.edu 37 13 64321072 64321072 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 64321072 64321072 G A SNP LOC101927016 ENST00000453638 human ensembl 74_37 +1 known missense c.139 p.G47S 0.818 NULL NULL - no_errors AL445989.1 Clone_based_ensembl_gene ENSG00000226974 43 0 0 52 12 18.75 LMO7 0 genome.wustl.edu 37 13 76417012 76417012 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 76417012 76417012 A G SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.4213 p.K1405E 0.274 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 186 0 0 160 77 32.4895 RNF219 0 genome.wustl.edu 37 13 79190393 79190393 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 79190393 79190393 C T SNP RNF219 ENST00000282003 human ensembl 74_37 -1 known silent c.1503 p.E501 1.000 NULL pfscan_Znf_RING - no_errors RNF219 HGNC ENSG00000152193 125 0 0 166 11 6.21469 ABCC4 0 genome.wustl.edu 37 13 95861791 95861791 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 13 95861791 95861791 G T SNP ABCC4 ENST00000376887 human ensembl 74_37 -1 known missense c.682 p.L228I 0.792 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM - no_errors ABCC4 HGNC ENSG00000125257 77 0 0 112 14 11.1111 TOX4 0 genome.wustl.edu 37 14 21960502 21960502 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 14 21960502 21960502 A C SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known silent c.858 p.A286 0.819 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 190 0 0 178 91 33.829 OR4E2 0 genome.wustl.edu 37 14 22133415 22133415 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 14 22133415 22133415 C T SNP OR4E2 ENST00000408935 human ensembl 74_37 +1 known missense c.119 p.S40L 0.208 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4E2 HGNC ENSG00000221977 303 0 0 347 104 23.0599 EIF2S1 0 genome.wustl.edu 37 14 67831719 67831719 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 14 67831719 67831719 G C SNP EIF2S1 ENST00000256383 human ensembl 74_37 +1 known missense c.235 p.E79Q 1.000 pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom pfam_TIF_2_asu,pfam_Rbsml_prot_S1_RNA-bd_dom,superfamily_TIF2_asu_C,superfamily_TIF2_asu_middle,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors EIF2S1 HGNC ENSG00000134001 141 0 0 109 26 19.2593 PCNX 0 genome.wustl.edu 37 14 71495432 71495432 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 14 71495432 71495432 T A SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.3482 p.L1161H 1.000 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 90 0 0 66 13 16.4557 UNC79 0 genome.wustl.edu 37 14 94060180 94060180 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 14 94060180 94060180 G A SNP UNC79 ENST00000553484 human ensembl 74_37 +1 known missense c.3187 p.A1063T 1.000 superfamily_ARM-type_fold superfamily_P-loop_NTPase,superfamily_ARM-type_fold - no_errors UNC79 HGNC ENSG00000133958 128 0 0 106 37 25.8741 GABRB3 0 genome.wustl.edu 37 15 26793220 26793220 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 15 26793220 26793220 A T SNP GABRB3 ENST00000299267 human ensembl 74_37 -1 known missense c.1142 p.V381D 0.997 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 205 0 0 200 53 20.9486 RYR3 0 genome.wustl.edu 37 15 34049680 34049680 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 15 34049680 34049680 T C SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.8588 p.L2863P 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 18 0 0 5 9 64.2857 SEMA6D 0 genome.wustl.edu 37 15 48062707 48062707 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 15 48062707 48062707 A G SNP SEMA6D ENST00000355997 human ensembl 74_37 +1 known missense c.1757 p.K586R 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 162 0 0 149 46 23.5897 CCDC33 0 genome.wustl.edu 37 15 74610955 74610955 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 15 74610955 74610955 C G SNP CCDC33 ENST00000268082 human ensembl 74_37 +1 known missense c.25 p.P9A 0.721 NULL NULL - no_errors CCDC33 HGNC ENSG00000140481 34 0 0 26 8 23.5294 KIAA1199 0 genome.wustl.edu 37 15 81176529 81176529 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 15 81176529 81176529 A G SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.631 p.R211G 0.114 NULL pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 190 0 0 122 105 46.2555 CLEC16A 0 genome.wustl.edu 37 16 11114066 11114066 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 16 11114066 11114066 C T SNP CLEC16A ENST00000409790 human ensembl 74_37 +1 known silent c.1320 p.I440 1.000 NULL pfam_Uncharacterised_FPL - no_errors CLEC16A HGNC ENSG00000038532 45 0 0 140 18 11.3924 ABCA3 0 genome.wustl.edu 37 16 2347452 2347452 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 16 2347452 2347452 C T SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known missense c.2141 p.R714H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 173 0 0 132 108 45 TAOK2 0 genome.wustl.edu 37 16 29992927 29992927 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 16 29992927 29992927 T C SNP TAOK2 ENST00000416441 human ensembl 74_37 +1 known silent c.82 p.L28 0.002 NULL superfamily_Kinase-like_dom - no_errors TAOK2 HGNC ENSG00000149930 29 0 0 52 4 7.14286 DNAH9 0 genome.wustl.edu 37 17 11684396 11684396 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 11684396 11684396 C G SNP DNAH9 ENST00000262442 human ensembl 74_37 +1 known missense c.7623 p.I2541M 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 53 0 0 50 4 7.40741 NCOR1 0 genome.wustl.edu 37 17 16068476 16068476 + Splice_Site SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 16068476 16068476 C A SNP NCOR1 ENST00000268712 human ensembl 74_37 -1 known splice_site c.436-1 e4-1 1.000 - - - no_errors NCOR1 HGNC ENSG00000141027 188 0 0 217 17 7.26496 ENSG00000273018 0 genome.wustl.edu 37 17 18430987 18430987 + RNA SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 18430987 18430987 G A SNP ENSG00000273018 ENST00000608313 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CTD-2303H24.2 Clone_based_vega_gene ENSG00000273018 74 0 0 84 28 25 C17orf97 0 genome.wustl.edu 37 17 263442 263442 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 263442 263442 G A SNP C17orf97 ENST00000360127 human ensembl 74_37 +1 known missense c.808 p.E270K 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 47 0 0 50 9 15.2542 PHF12 0 genome.wustl.edu 37 17 27233875 27233875 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 27233875 27233875 G A SNP PHF12 ENST00000332830 human ensembl 74_37 -1 known silent c.2679 p.I893 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,superfamily_SMAD_FHA_domain,smart_Znf_PHD,pfscan_FHA_dom,pfscan_Znf_PHD-finger - no_errors PHF12 HGNC ENSG00000109118 148 0 0 126 39 23.6364 ADAP2 0 genome.wustl.edu 37 17 29281541 29281541 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 29281541 29281541 G C SNP ADAP2 ENST00000330889 human ensembl 74_37 +1 known missense c.850 p.E284Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,prints_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP - no_errors ADAP2 HGNC ENSG00000184060 257 0 0 316 83 20.802 NF1 0 genome.wustl.edu 37 17 29657378 29657378 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 29657378 29657378 T G SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.5674 p.L1892V 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 145 0 0 102 77 43.0168 LIG3 0 genome.wustl.edu 37 17 33331399 33331399 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 33331399 33331399 G A SNP LIG3 ENST00000378526 human ensembl 74_37 +1 known silent c.2904 p.Q968 1.000 superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_Znf_PARP,pfam_DNA_ligase_ATP-dep_C,superfamily_NA-bd_OB-fold,superfamily_BRCT_dom,superfamily_DNA_ligase_ATP-dep_N,smart_BRCT_dom,pfscan_BRCT_dom,pfscan_Znf_PARP,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG3 HGNC ENSG00000005156 105 0 0 65 65 50 CCL18 0 genome.wustl.edu 37 17 34391748 34391748 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 34391748 34391748 G T SNP CCL18 ENST00000004921 human ensembl 74_37 +1 known missense c.46 p.A16S 0.000 superfamily_Chemokine_IL8-like_dom pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom - no_errors CCL18 HGNC ENSG00000006074 152 0 0 183 56 23.431 MED1 0 genome.wustl.edu 37 17 37564295 37564295 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 37564295 37564295 G A SNP MED1 ENST00000300651 human ensembl 74_37 -1 known silent c.4179 p.I1393 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 132 1 0.75188 413 44 9.62801 PGAP3 0 genome.wustl.edu 37 17 37830295 37830295 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 37830295 37830295 A G SNP PGAP3 ENST00000300658 human ensembl 74_37 -1 known missense c.508 p.F170L 1.000 pfam_Per1 pfam_Per1 - no_errors PGAP3 HGNC ENSG00000161395 49 0 0 615 44 6.67678 FMNL1 0 genome.wustl.edu 37 17 43309736 43309736 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 43309736 43309736 G T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.216 p.E72D 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 60 0 0 212 14 6.19469 MAPT 0 genome.wustl.edu 37 17 44061042 44061042 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 44061042 44061042 G A SNP MAPT ENST00000344290 human ensembl 74_37 +1 known missense c.872 p.R291Q 0.000 NULL pfam_MAP_tubulin-bd_rpt,prints_Tau - no_errors MAPT HGNC ENSG00000186868 97 0 0 60 88 59.4595 MPO 0 genome.wustl.edu 37 17 56350797 56350797 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 56350797 56350797 G A SNP MPO ENST00000340482 human ensembl 74_37 -1 known silent c.1695 p.A565 0.035 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors MPO HGNC ENSG00000005381 197 0 0 250 58 18.8312 ABCA8 0 genome.wustl.edu 37 17 66920887 66920887 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 66920887 66920887 G A SNP ABCA8 ENST00000430352 human ensembl 74_37 -1 known missense c.1397 p.S466F 0.998 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA8 HGNC ENSG00000141338 177 1 0.561798 169 35 17.1569 TP53 0 genome.wustl.edu 37 17 7577538 7577538 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 7577538 7577538 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.743 p.R248Q 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 77 0 0 41 79 65.8333 PIAS2 0 genome.wustl.edu 37 18 44407934 44407934 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 18 44407934 44407934 C T SNP PIAS2 ENST00000585916 human ensembl 74_37 -1 known missense c.1496 p.S499N 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS2 HGNC ENSG00000078043 179 0 0 138 31 18.3432 PQLC1 0 genome.wustl.edu 37 18 77679186 77679186 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 18 77679186 77679186 C G SNP PQLC1 ENST00000397778 human ensembl 74_37 -1 known missense c.606 p.M202I 1.000 smart_CTNS smart_CTNS - no_errors PQLC1 HGNC ENSG00000122490 53 0 0 49 20 28.9855 CACNA1A 0 genome.wustl.edu 37 19 13346476 13346476 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 19 13346476 13346476 C G SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known missense c.5019 p.Q1673H 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 81 0 0 93 9 8.82353 SMG9 0 genome.wustl.edu 37 19 44237015 44237015 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 19 44237015 44237015 C T SNP SMG9 ENST00000270066 human ensembl 74_37 -1 known silent c.1479 p.K493 1.000 NULL pfam_Smg8/Smg9,superfamily_P-loop_NTPase - no_errors SMG9 HGNC ENSG00000105771 81 0 0 99 31 23.8462 CEACAM18 0 genome.wustl.edu 37 19 51986375 51986375 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 19 51986375 51986375 T G SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known missense c.961 p.F321V 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 249 0 0 256 80 23.8095 EMR4P 0 genome.wustl.edu 37 19 6977303 6977303 + RNA SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 19 6977303 6977303 G C SNP EMR4P ENST00000600751 human ensembl 74_37 -1 known rna NULL NULL 0.020 - - - no_errors EMR4P HGNC ENSG00000268758 104 0 0 107 21 16.4062 OR2Z1 0 genome.wustl.edu 37 19 8841802 8841802 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 19 8841802 8841802 C T SNP OR2Z1 ENST00000324060 human ensembl 74_37 +1 known missense c.412 p.R138C 0.539 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 OR2Z1 HGNC ENSG00000181733 148 0 0 84 98 53.8462 MUC16 0 genome.wustl.edu 37 19 9076652 9076652 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 19 9076652 9076652 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.10794 p.T3598 0.008 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 113 1 0.877193 129 48 27.1186 ZEB2 0 genome.wustl.edu 37 2 145157322 145157322 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 145157322 145157322 A C SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.1432 p.C478G 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 172 0 0 134 84 38.5321 LY75 0 genome.wustl.edu 37 2 160708776 160708776 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 160708776 160708776 T G SNP LY75 ENST00000554112 human ensembl 74_37 -1 known missense c.2819 p.K940T 1.000 NULL pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 101 0 0 135 30 18.1818 DPP4 0 genome.wustl.edu 37 2 162894905 162894905 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 162894905 162894905 C T SNP DPP4 ENST00000360534 human ensembl 74_37 -1 known missense c.520 p.V174I 0.984 pfam_Peptidase_S9B pfam_Peptidase_S9B,pfam_Peptidase_S9 - no_errors DPP4 HGNC ENSG00000197635 36 0 0 40 3 6.97674 XIRP2 0 genome.wustl.edu 37 2 168096364 168096364 + Splice_Site SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 168096364 168096364 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known splice_site c.859-1 e5-1 1.000 - - - no_errors XIRP2 HGNC ENSG00000163092 63 0 0 86 12 12.2449 XIRP2 0 genome.wustl.edu 37 2 168105231 168105231 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 168105231 168105231 A C SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.7329 p.K2443N 0.000 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 147 0 0 188 45 19.3133 DHRS9 0 genome.wustl.edu 37 2 169938295 169938295 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 169938295 169938295 T C SNP DHRS9 ENST00000432060 human ensembl 74_37 +1 known silent c.384 p.A128 0.969 pfam_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors DHRS9 HGNC ENSG00000073737 126 0 0 168 15 8.19672 TTN 0 genome.wustl.edu 37 2 179403391 179403391 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 179403391 179403391 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.91461 p.D30487E 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 344 0 0 354 83 18.9931 TTN 0 genome.wustl.edu 37 2 179435132 179435132 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 179435132 179435132 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.68023 p.E22675Q 1.000 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 56 0 0 50 17 25.3731 TTN 0 genome.wustl.edu 37 2 179578671 179578671 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 179578671 179578671 T G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.22982 p.Q7661P 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 61 0 0 62 17 21.519 ZNF804A 0 genome.wustl.edu 37 2 185800895 185800895 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 185800895 185800895 C A SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.772 p.H258N 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 190 0 0 219 42 16.092 CRYGD 0 genome.wustl.edu 37 2 208989037 208989037 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 208989037 208989037 A G SNP CRYGD ENST00000264376 human ensembl 74_37 -1 known silent c.51 p.Y17 0.980 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGD HGNC ENSG00000118231 14 0 0 33 5 13.1579 BARD1 0 genome.wustl.edu 37 2 215593709 215593709 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 215593709 215593709 G A SNP BARD1 ENST00000449967 human ensembl 74_37 -1 known missense c.1589 p.A530V 0.998 superfamily_BRCT_dom pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom - no_errors BARD1 HGNC ENSG00000138376 53 0 0 52 27 34.1772 PAX3 0 genome.wustl.edu 37 2 223066852 223066852 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 223066852 223066852 C T SNP PAX3 ENST00000392069 human ensembl 74_37 -1 known missense c.1231 p.A411T 1.000 NULL pfam_Paired_dom,pfam_Pax7,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX3 HGNC ENSG00000135903 26 0 0 25 7 21.875 PID1 0 genome.wustl.edu 37 2 229890734 229890734 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 229890734 229890734 T C SNP PID1 ENST00000354069 human ensembl 74_37 -1 known missense c.367 p.T123A 0.997 smart_PTB/PI_dom pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors PID1 HGNC ENSG00000153823 118 0 0 112 12 9.67742 RBM44 0 genome.wustl.edu 37 2 238725997 238725997 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 238725997 238725997 T A SNP RBM44 ENST00000316997 human ensembl 74_37 +1 known missense c.438 p.F146L 0.962 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM44 HGNC ENSG00000177483 22 0 0 21 6 22.2222 PER2 0 genome.wustl.edu 37 2 239176732 239176732 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 239176732 239176732 A C SNP PER2 ENST00000254657 human ensembl 74_37 -1 known missense c.932 p.L311R 1.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER2 HGNC ENSG00000132326 53 0 0 51 8 13.5593 LOC100505716 0 genome.wustl.edu 37 2 28531502 28531502 + RNA SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 28531502 28531502 C T SNP LOC100505716 ENST00000418963 human ensembl 74_37 -1 known rna NULL NULL 0.073 - - - no_errors AC093690.1 Clone_based_vega_gene ENSG00000223522 11 0 0 13 14 51.8519 LHCGR 0 genome.wustl.edu 37 2 48925758 48925758 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 48925758 48925758 T C SNP LHCGR ENST00000294954 human ensembl 74_37 -1 known missense c.862 p.K288E 0.601 NULL pfam_GPCR_Rhodpsn,prints_LSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors LHCGR HGNC ENSG00000138039 116 1 0.854701 110 43 28.1046 REG1A 0 genome.wustl.edu 37 2 79349196 79349196 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 79349196 79349196 A C SNP REG1A ENST00000233735 human ensembl 74_37 +1 known missense c.266 p.K89T 0.406 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors REG1A HGNC ENSG00000115386 123 0 0 109 27 19.8529 KDM3A 0 genome.wustl.edu 37 2 86669284 86669284 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 2 86669284 86669284 C T SNP KDM3A ENST00000312912 human ensembl 74_37 +1 known silent c.114 p.V38 0.998 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors KDM3A HGNC ENSG00000115548 91 0 0 71 23 24.4681 SYNDIG1 0 genome.wustl.edu 37 20 24523880 24523880 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 24523880 24523880 G A SNP SYNDIG1 ENST00000376862 human ensembl 74_37 +1 known silent c.147 p.Q49 0.998 NULL pfam_CD225/Dispanin_fam - no_errors SYNDIG1 HGNC ENSG00000101463 115 0 0 164 11 6.28571 NCOR1P1 0 genome.wustl.edu 37 20 26084094 26084094 + RNA SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 26084094 26084094 T C SNP NCOR1P1 ENST00000478176 human ensembl 74_37 -1 known rna NULL NULL 0.667 - - - no_errors NCOR1P1 HGNC ENSG00000240108 29 0 0 40 10 20 TMC2 0 genome.wustl.edu 37 20 2621798 2621798 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 2621798 2621798 C T SNP TMC2 ENST00000358864 human ensembl 74_37 +1 known missense c.2522 p.A841V 0.981 NULL pfam_TMC - no_errors TMC2 HGNC ENSG00000149488 212 0 0 201 116 36.5931 RALGAPB 0 genome.wustl.edu 37 20 37121694 37121694 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 37121694 37121694 C G SNP RALGAPB ENST00000262879 human ensembl 74_37 +1 known missense c.308 p.S103C 1.000 NULL superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPB HGNC ENSG00000170471 177 0 0 203 49 19.4444 PPP1R16B 0 genome.wustl.edu 37 20 37529251 37529251 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 37529251 37529251 G A SNP PPP1R16B ENST00000299824 human ensembl 74_37 +1 known silent c.495 p.S165 0.004 superfamily_Ankyrin_rpt-contain_dom,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors PPP1R16B HGNC ENSG00000101445 108 0 0 139 31 18.2353 PTPRT 0 genome.wustl.edu 37 20 41514542 41514542 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 41514542 41514542 T C SNP PTPRT ENST00000373198 human ensembl 74_37 -1 known missense c.119 p.N40S 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom 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 78 0 0 192 16 7.69231 JPH2 0 genome.wustl.edu 37 20 42788489 42788489 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 42788489 42788489 C T SNP JPH2 ENST00000372980 human ensembl 74_37 -1 known missense c.938 p.R313H 1.000 smart_MORN,pirsf_Junctophilin pfam_MORN,smart_MORN,pirsf_Junctophilin - no_errors JPH2 HGNC ENSG00000149596 55 0 0 38 64 62.7451 SEMG2 0 genome.wustl.edu 37 20 43850999 43850999 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 43850999 43850999 T A SNP SEMG2 ENST00000372769 human ensembl 74_37 +1 known missense c.726 p.H242Q 0.000 pfam_Semenogelin pfam_Semenogelin - no_errors SEMG2 HGNC ENSG00000124157 217 0 0 265 216 44.9064 KCNB1 0 genome.wustl.edu 37 20 47989961 47989961 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 47989961 47989961 C T SNP KCNB1 ENST00000371741 human ensembl 74_37 -1 known silent c.2136 p.T712 0.000 pfam_K_chnl_volt-dep_Kv2 pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 55 0 0 209 22 9.52381 KCNQ2 0 genome.wustl.edu 37 20 62070073 62070073 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 62070073 62070073 C T SNP KCNQ2 ENST00000354587 human ensembl 74_37 -1 known missense c.928 p.G310S 1.000 pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl pfam_K_chnl_volt-dep_KCNQ_C,pfam_Ankyrin-G_BS,pfam_Ion_trans_dom,pfam_2pore_dom_K_chnl_dom,prints_K_chnl_volt-dep_KCNQ2,prints_K_chnl_volt-dep_KCNQ,prints_K_chnl - no_errors KCNQ2 HGNC ENSG00000075043 68 0 0 30 96 76.1905 PLCB4 0 genome.wustl.edu 37 20 9459579 9459579 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 20 9459579 9459579 G A SNP PLCB4 ENST00000334005 human ensembl 74_37 +1 known missense c.3508 p.A1170T 1.000 pirsf_PLC-beta pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_PLC-beta_CS,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB4 HGNC ENSG00000101333 43 0 0 46 14 23.3333 SAMSN1 0 genome.wustl.edu 37 21 15889299 15889299 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 21 15889299 15889299 C T SNP SAMSN1 ENST00000400566 human ensembl 74_37 -1 known missense c.193 p.G65S 0.605 pfam_rSAM/SH3_domain-containing pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM - no_errors SAMSN1 HGNC ENSG00000155307 57 0 0 30 24 44.4444 DSCR9 0 genome.wustl.edu 37 21 38593929 38593929 + RNA SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 21 38593929 38593929 C T SNP DSCR9 ENST00000454482 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors DSCR9 HGNC ENSG00000230366 41 0 0 37 14 27.451 TIMP3 0 genome.wustl.edu 37 22 33245467 33245467 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 22 33245467 33245467 G C SNP TIMP3 ENST00000266085 human ensembl 74_37 +1 known missense c.150 p.K50N 1.000 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP3 HGNC ENSG00000100234 40 0 0 30 15 33.3333 PARP14 0 genome.wustl.edu 37 3 122422676 122422676 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 122422676 122422676 G C SNP PARP14 ENST00000474629 human ensembl 74_37 +1 known missense c.3169 p.E1057Q 0.001 pfam_Macro_dom,smart_Macro_dom,pfscan_Macro_dom pfam_Macro_dom,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_Macro_dom,pfscan_Macro_dom,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP14 HGNC ENSG00000173193 89 0 0 90 27 23.0769 ALG1L2 0 genome.wustl.edu 37 3 129817148 129817148 + RNA SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 129817148 129817148 C T SNP ALG1L2 ENST00000507643 human ensembl 74_37 +1 known rna NULL NULL 0.946 - - - no_errors ALG1L2 HGNC ENSG00000251287 63 0 0 74 11 12.9412 SLC35G2 0 genome.wustl.edu 37 3 136573735 136573735 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 136573735 136573735 G T SNP SLC35G2 ENST00000393079 human ensembl 74_37 +1 known missense c.433 p.V145F 1.000 pfam_DMT pfam_DMT - no_errors SLC35G2 HGNC ENSG00000168917 359 1 0.277778 326 105 24.3619 XRN1 0 genome.wustl.edu 37 3 142102207 142102207 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 142102207 142102207 C T SNP XRN1 ENST00000264951 human ensembl 74_37 -1 known missense c.2551 p.D851N 1.000 pirsf_5_3_exoribonuclease_1 pfam_Put_53exo,pirsf_5_3_exoribonuclease_1 - no_errors XRN1 HGNC ENSG00000114127 126 0 0 142 30 17.4419 PLCL2-AS1 0 genome.wustl.edu 37 3 17084314 17084314 + RNA SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 17084314 17084314 G A SNP PLCL2-AS1 ENST00000414844 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PLCL2-AS1 HGNC ENSG00000226441 134 0 0 128 32 20 AHSG 0 genome.wustl.edu 37 3 186335007 186335007 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 186335007 186335007 A G SNP AHSG ENST00000411641 human ensembl 74_37 +1 known silent c.441 p.Q147 0.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors AHSG HGNC ENSG00000145192 139 0 0 162 26 13.8298 SCN5A 0 genome.wustl.edu 37 3 38597190 38597190 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 38597190 38597190 T G SNP SCN5A ENST00000333535 human ensembl 74_37 -1 known missense c.4499 p.K1500T 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,prints_Na_channel_a5su,prints_Na_channel_asu - no_errors SCN5A HGNC ENSG00000183873 101 0 0 118 10 7.8125 SHISA5 0 genome.wustl.edu 37 3 48510489 48510489 + RNA SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 48510489 48510489 G C SNP SHISA5 ENST00000465449 human ensembl 74_37 -1 known rna NULL NULL 0.233 - - - no_errors SHISA5 HGNC ENSG00000164054 124 1 0.8 113 19 14.3939 CELSR3 0 genome.wustl.edu 37 3 48697355 48697355 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 48697355 48697355 G A SNP CELSR3 ENST00000544264 human ensembl 74_37 -1 known missense c.2713 p.R905C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_GPCR_2_secretin-like,pfam_Laminin_G,pfam_DUF3497,pfam_EG-like_dom,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,smart_EGF_laminin,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_GPS_dom,pfscan_Laminin_G,pfscan_Cadherin,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_Cadherin,prints_GPCR_2_secretin-like - no_errors CELSR3 HGNC ENSG00000008300 74 0 0 95 22 18.8034 CAMKV 0 genome.wustl.edu 37 3 49897278 49897278 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 49897278 49897278 G A SNP CAMKV ENST00000477224 human ensembl 74_37 -1 known missense c.979 p.R327W 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKV HGNC ENSG00000164076 48 0 0 42 13 23.6364 SEMA3B 0 genome.wustl.edu 37 3 50311057 50311057 + RNA SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 50311057 50311057 A G SNP SEMA3B ENST00000316347 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SEMA3B HGNC ENSG00000012171 97 0 0 79 29 26.8519 PXK 0 genome.wustl.edu 37 3 58376310 58376310 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 58376310 58376310 G T SNP PXK ENST00000356151 human ensembl 74_37 +1 known missense c.390 p.E130D 0.999 pfscan_Prot_kinase_dom pfam_Phox,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Phox,superfamily_Kinase-like_dom,smart_Phox,pfscan_Phox,pfscan_WH2_dom,pfscan_Prot_kinase_dom - no_errors PXK HGNC ENSG00000168297 38 0 0 54 10 15.625 ROBO2 0 genome.wustl.edu 37 3 77657104 77657104 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 77657104 77657104 G T SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known missense c.3292 p.G1098C 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 51 0 0 45 16 26.2295 C4orf21 0 genome.wustl.edu 37 4 113539455 113539455 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 113539455 113539455 A G SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known silent c.1743 p.C581 0.001 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 188 0 0 140 49 25.9259 LRBA 0 genome.wustl.edu 37 4 151836777 151836777 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 151836777 151836777 A C SNP LRBA ENST00000357115 human ensembl 74_37 -1 known missense c.997 p.F333V 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 67 0 0 62 8 11.4286 FGB 0 genome.wustl.edu 37 4 155487704 155487704 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 155487704 155487704 A G SNP FGB ENST00000302068 human ensembl 74_37 +1 known missense c.370 p.R124G 0.007 pfam_Fibrinogen_a/b/g_coil_dom pfam_Fibrinogen_a/b/g_C_dom,pfam_Fibrinogen_a/b/g_coil_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors FGB HGNC ENSG00000171564 178 0 0 203 12 5.5814 FNIP2 0 genome.wustl.edu 37 4 159825674 159825674 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 159825674 159825674 A T SNP FNIP2 ENST00000379346 human ensembl 74_37 +1 known missense c.3392 p.Y1131F 0.976 NULL NULL - no_errors FNIP2 HGNC ENSG00000052795 159 0 0 216 14 6.08696 FSTL5 0 genome.wustl.edu 37 4 162307171 162307171 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 162307171 162307171 C T SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.2272 p.G758S 0.938 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 141 0 0 119 31 20.6667 UFSP2 0 genome.wustl.edu 37 4 186336377 186336377 + Nonsense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 186336377 186336377 T A SNP UFSP2 ENST00000264689 human ensembl 74_37 -1 known nonsense c.616 p.K206* 0.000 NULL pfam_Peptidase_C78_UfSP1/2 - no_errors UFSP2 HGNC ENSG00000109775 92 0 0 74 26 26 PDLIM3 0 genome.wustl.edu 37 4 186423589 186423589 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 186423589 186423589 G A SNP PDLIM3 ENST00000284770 human ensembl 74_37 -1 known silent c.954 p.F318 0.999 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM3 HGNC ENSG00000154553 188 0 0 152 48 24 SLC34A2 0 genome.wustl.edu 37 4 25678198 25678198 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 25678198 25678198 G C SNP SLC34A2 ENST00000382051 human ensembl 74_37 +1 known missense c.1900 p.D634H 0.977 NULL pfam_Na/Pi_transpt,superfamily_ABC1_TM_dom,tigrfam_Na/Pi_transpt - no_errors SLC34A2 HGNC ENSG00000157765 50 0 0 50 16 24.2424 STK32B 0 genome.wustl.edu 37 4 5468493 5468493 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 5468493 5468493 C A SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.973 p.L325I 0.995 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 STK32B HGNC ENSG00000152953 55 0 0 48 20 29.4118 COX18 0 genome.wustl.edu 37 4 73927606 73927606 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 73927606 73927606 C T SNP COX18 ENST00000295890 human ensembl 74_37 -1 known missense c.752 p.R251H 0.998 pfam_Membrane_insert_OXA1/ALB3/YidC pfam_Membrane_insert_OXA1/ALB3/YidC - no_errors COX18 HGNC ENSG00000163626 49 0 0 49 12 19.6721 UNC5C 0 genome.wustl.edu 37 4 96091445 96091445 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 96091445 96091445 C T SNP UNC5C ENST00000453304 human ensembl 74_37 -1 known silent c.2490 p.A830 0.098 NULL pfam_ZU5,pfam_Death_domain,pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,superfamily_DEATH-like_dom,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,smart_Thrombospondin_1_rpt,smart_ZU5,smart_Death_domain,pfscan_Thrombospondin_1_rpt,pfscan_ZU5,pfscan_Ig-like_dom - no_errors UNC5C HGNC ENSG00000182168 306 0 0 343 27 7.2973 DRD5 0 genome.wustl.edu 37 4 9784423 9784423 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 9784423 9784423 G A SNP DRD5 ENST00000304374 human ensembl 74_37 +1 known missense c.770 p.R257H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM 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 58 0 0 35 14 28.5714 DMXL1 0 genome.wustl.edu 37 5 118484729 118484729 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 118484729 118484729 A G SNP DMXL1 ENST00000539542 human ensembl 74_37 +1 known silent c.3207 p.R1069 0.001 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 289 0 0 195 172 46.8665 FBN2 0 genome.wustl.edu 37 5 127607789 127607789 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 127607789 127607789 T G SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.7862 p.N2621T 1.000 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 110 0 0 98 41 29.4964 DNAH5 0 genome.wustl.edu 37 5 13708305 13708305 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 13708305 13708305 A G SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.13265 p.I4422T 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 343 0 0 232 181 43.8257 PCDHA6 0 genome.wustl.edu 37 5 140209209 140209209 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 140209209 140209209 C T SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known silent c.1533 p.H511 1.000 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 PCDHA6 HGNC ENSG00000081842 155 1 0.641026 102 92 47.4227 PCDHGA4 0 genome.wustl.edu 37 5 140734941 140734941 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 140734941 140734941 G A SNP PCDHGA4 ENST00000571252 human ensembl 74_37 +1 known silent c.174 p.E58 0.997 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA4 HGNC ENSG00000262576 113 0 0 134 15 10.0671 PCDHGB3 0 genome.wustl.edu 37 5 140752271 140752271 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 140752271 140752271 A C SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known silent c.2310 p.I770 0.620 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 56 0 0 36 42 53.8462 LARS 0 genome.wustl.edu 37 5 145529216 145529216 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 145529216 145529216 T C SNP LARS ENST00000394434 human ensembl 74_37 -1 known missense c.1472 p.K491R 1.000 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Cys-tRNA/MSH_ligase,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Leu-tRNA-synth_Ia_arc/euk - no_errors LARS HGNC ENSG00000133706 282 1 0.353357 171 145 45.8861 TCERG1 0 genome.wustl.edu 37 5 145859463 145859463 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 145859463 145859463 C G SNP TCERG1 ENST00000296702 human ensembl 74_37 +1 known missense c.1808 p.S603C 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1 HGNC ENSG00000113649 54 0 0 54 18 25 FBXL7 0 genome.wustl.edu 37 5 15936809 15936809 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 15936809 15936809 C T SNP FBXL7 ENST00000504595 human ensembl 74_37 +1 known silent c.990 p.S330 1.000 smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,pfam_F-box_dom,superfamily_F-box_dom,smart_F-box_dom,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom - no_errors FBXL7 HGNC ENSG00000183580 22 0 0 20 5 20 TTC1 0 genome.wustl.edu 37 5 159478161 159478161 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 159478161 159478161 G T SNP TTC1 ENST00000231238 human ensembl 74_37 +1 known missense c.716 p.R239L 1.000 NULL pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC1 HGNC ENSG00000113312 144 0 0 149 9 5.6962 MAML1 0 genome.wustl.edu 37 5 179193287 179193287 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 179193287 179193287 C A SNP MAML1 ENST00000292599 human ensembl 74_37 +1 known missense c.1276 p.Q426K 1.000 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 232 0 0 280 36 11.3924 BTNL9 0 genome.wustl.edu 37 5 180477150 180477150 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 180477150 180477150 C T SNP BTNL9 ENST00000376842 human ensembl 74_37 +1 known missense c.517 p.L173F 0.582 NULL pfam_SPRY_rcpt,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Ig-like_dom,prints_Butyrophylin - no_errors BTNL9 HGNC ENSG00000165810 122 0 0 78 102 56.6667 ENSG00000181495 0 genome.wustl.edu 37 5 32789806 32789806 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 32789806 32789806 T G SNP ENSG00000181495 ENST00000326958 human ensembl 74_37 +1 novel missense c.299 p.V100G 0.000 NULL NULL - no_errors AC026703.1 Clone_based_ensembl_gene ENSG00000181495 150 0 0 162 45 21.7391 AGXT2 0 genome.wustl.edu 37 5 34998853 34998853 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 34998853 34998853 T G SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.1516 p.T506P 0.387 superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 83 0 0 73 49 40.1639 AGXT2 0 genome.wustl.edu 37 5 35035336 35035336 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 35035336 35035336 A T SNP AGXT2 ENST00000231420 human ensembl 74_37 -1 known missense c.572 p.I191N 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase - no_errors AGXT2 HGNC ENSG00000113492 146 0 0 172 41 19.2488 IL7R 0 genome.wustl.edu 37 5 35861002 35861002 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 35861002 35861002 G T SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.131 p.S44I 0.994 NULL pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 221 0 0 214 91 29.8361 NIPBL 0 genome.wustl.edu 37 5 36984938 36984938 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 36984938 36984938 C T SNP NIPBL ENST00000282516 human ensembl 74_37 +1 known silent c.1656 p.D552 1.000 NULL superfamily_ARM-type_fold - no_errors NIPBL HGNC ENSG00000164190 342 1 0.291545 502 486 49.1903 ADCY2 0 genome.wustl.edu 37 5 7707834 7707834 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 7707834 7707834 T C SNP ADCY2 ENST00000338316 human ensembl 74_37 +1 known silent c.1284 p.S428 0.564 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors ADCY2 HGNC ENSG00000078295 144 0 0 173 80 31.6206 VCAN 0 genome.wustl.edu 37 5 82816513 82816513 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 82816513 82816513 A T SNP VCAN ENST00000265077 human ensembl 74_37 +1 known missense c.2388 p.E796D 0.947 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 101 0 0 124 7 5.34351 SEMA5A 0 genome.wustl.edu 37 5 9066581 9066581 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 5 9066581 9066581 C T SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known missense c.2251 p.E751K 1.000 NULL pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 276 1 0.361011 329 85 20.5314 LAMA4 0 genome.wustl.edu 37 6 112441542 112441542 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 112441542 112441542 G A SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known missense c.4609 p.H1537Y 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 144 0 0 144 15 9.43396 AGPAT4 0 genome.wustl.edu 37 6 161653179 161653179 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 161653179 161653179 C A SNP AGPAT4 ENST00000320285 human ensembl 74_37 -1 known missense c.67 p.A23S 0.775 NULL pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase - no_errors AGPAT4 HGNC ENSG00000026652 81 0 0 76 48 38.7097 HIST1H2AD 0 genome.wustl.edu 37 6 26199112 26199112 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 26199112 26199112 C G SNP HIST1H2AD ENST00000341023 human ensembl 74_37 -1 known missense c.360 p.K120N 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AD HGNC ENSG00000196866 132 0 0 107 27 20.1493 ABT1 0 genome.wustl.edu 37 6 26598628 26598628 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 26598628 26598628 G A SNP ABT1 ENST00000274849 human ensembl 74_37 +1 known missense c.574 p.G192R 0.889 NULL NULL - no_errors ABT1 HGNC ENSG00000146109 90 0 0 83 26 23.8532 OR2J1 0 genome.wustl.edu 37 6 29069010 29069010 + Silent SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 29069010 29069010 T C SNP OR2J1 ENST00000377171 human ensembl 74_37 +1 known silent c.291 p.G97 0.040 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2J1 HGNC ENSG00000204702 231 0 0 198 53 21.1155 CYP21A2 0 genome.wustl.edu 37 6 32007956 32007956 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 32007956 32007956 G A SNP CYP21A2 ENST00000418967 human ensembl 74_37 +1 known missense c.913 p.V305M 0.997 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP21A2 HGNC ENSG00000231852 294 2 0.675676 289 173 37.4459 CDC5L 0 genome.wustl.edu 37 6 44371709 44371709 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 44371709 44371709 C G SNP CDC5L ENST00000371477 human ensembl 74_37 +1 known missense c.703 p.L235V 0.980 NULL pfam_DUF3351,pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors CDC5L HGNC ENSG00000096401 165 0 0 105 112 51.6129 DEFB112 0 genome.wustl.edu 37 6 50016282 50016282 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 50016282 50016282 T G SNP DEFB112 ENST00000322246 human ensembl 74_37 -1 known missense c.83 p.K28T 0.000 NULL NULL - no_errors DEFB112 HGNC ENSG00000180872 106 0 0 105 12 10.2564 DST 0 genome.wustl.edu 37 6 56417119 56417119 + Missense_Mutation SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 56417119 56417119 T C SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.16378 p.I5460V 0.224 superfamily_ABC1_TM_dom pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 77 0 0 89 33 27.0492 FAM135A 0 genome.wustl.edu 37 6 71185403 71185403 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 71185403 71185403 C T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.335 p.S112F 0.993 pfam_DUF3657 pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 62 0 0 41 29 41.4286 PLOD3 0 genome.wustl.edu 37 7 100853950 100853950 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 100853950 100853950 C T SNP PLOD3 ENST00000223127 human ensembl 74_37 -1 known missense c.1363 p.V455M 0.611 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors PLOD3 HGNC ENSG00000106397 51 0 0 67 23 25.5556 PRKAR2B 0 genome.wustl.edu 37 7 106786820 106786820 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 106786820 106786820 G T SNP PRKAR2B ENST00000265717 human ensembl 74_37 +1 known missense c.655 p.G219W 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin - no_errors PRKAR2B HGNC ENSG00000005249 119 0 0 87 50 36.4964 ENSG00000230435 0 genome.wustl.edu 37 7 11446698 11446698 + RNA SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 11446698 11446698 A C SNP ENSG00000230435 ENST00000425837 human ensembl 74_37 +1 known rna NULL NULL 0.443 - - - no_errors AC004160.4 Clone_based_vega_gene ENSG00000230435 30 0 0 23 7 23.3333 SLC35B4 0 genome.wustl.edu 37 7 133994182 133994182 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 133994182 133994182 T A SNP SLC35B4 ENST00000378509 human ensembl 74_37 -1 known missense c.127 p.I43F 1.000 pfam_UAA pfam_UAA,pfam_Tpt_PEP_trans_dom - no_errors SLC35B4 HGNC ENSG00000205060 22 0 0 64 7 9.85915 CCDC129 0 genome.wustl.edu 37 7 31611789 31611789 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 31611789 31611789 A C SNP CCDC129 ENST00000451887 human ensembl 74_37 +1 known missense c.460 p.S154R 0.903 NULL NULL - no_errors CCDC129 HGNC ENSG00000180347 23 0 0 21 8 27.5862 SDK1 0 genome.wustl.edu 37 7 3678640 3678640 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 3678640 3678640 A G SNP SDK1 ENST00000404826 human ensembl 74_37 +1 known missense c.463 p.I155V 0.540 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK1 HGNC ENSG00000146555 22 0 0 27 3 10 NME8 0 genome.wustl.edu 37 7 37890313 37890313 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 37890313 37890313 A G SNP NME8 ENST00000199447 human ensembl 74_37 +1 known silent c.174 p.E58 0.997 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 70 0 0 53 26 32.9114 NME8 0 genome.wustl.edu 37 7 37936592 37936592 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 37936592 37936592 G T SNP NME8 ENST00000199447 human ensembl 74_37 +1 known missense c.1665 p.Q555H 0.000 pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase pfam_Nucleoside_diP_kinase,pfam_Thioredoxin_domain,superfamily_Nucleoside_diP_kinase,superfamily_Thioredoxin-like_fold,smart_Nucleoside_diP_kinase - no_errors NME8 HGNC ENSG00000086288 83 0 0 68 50 42.3729 HECW1 0 genome.wustl.edu 37 7 43477736 43477736 + Silent SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 43477736 43477736 C T SNP HECW1 ENST00000395891 human ensembl 74_37 +1 known silent c.936 p.H312 0.836 superfamily_C2_dom,smart_C2_dom pfam_HECT,pfam_WW_dom,pfam_C2_dom,superfamily_HECT,superfamily_WW_dom,superfamily_C2_dom,smart_C2_dom,smart_WW_dom,smart_HECT,pfscan_HECT,pfscan_C2_dom,pfscan_WW_dom - no_errors HECW1 HGNC ENSG00000002746 95 0 0 75 16 17.5824 TNS3 0 genome.wustl.edu 37 7 47451357 47451357 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 47451357 47451357 C T SNP TNS3 ENST00000311160 human ensembl 74_37 -1 known missense c.691 p.E231K 0.996 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS3 HGNC ENSG00000136205 28 0 0 16 7 30.4348 ZNF479 0 genome.wustl.edu 37 7 57188491 57188491 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 57188491 57188491 T G SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.631 p.K211Q 0.976 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 38 0 0 22 20 47.619 ZNF479 0 genome.wustl.edu 37 7 57188492 57188492 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 57188492 57188492 C A SNP ZNF479 ENST00000331162 human ensembl 74_37 -1 known missense c.630 p.E210D 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF479 HGNC ENSG00000185177 40 0 0 23 21 47.7273 ZNF107 0 genome.wustl.edu 37 7 64167982 64167982 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 64167982 64167982 C A SNP ZNF107 ENST00000344930 human ensembl 74_37 +1 known missense c.1300 p.H434N 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF107 HGNC ENSG00000196247 75 0 0 66 5 7.04225 AUTS2 0 genome.wustl.edu 37 7 69364285 69364285 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 69364285 69364285 T G SNP AUTS2 ENST00000342771 human ensembl 74_37 +1 known missense c.323 p.L108R 1.000 NULL prints_AUTS2 - no_errors AUTS2 HGNC ENSG00000158321 105 0 0 95 36 27.4809 TYW1B 0 genome.wustl.edu 37 7 72093957 72093957 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 72093957 72093957 A G SNP TYW1B ENST00000343721 human ensembl 74_37 -1 known missense c.410 p.M137T 1.000 pfam_rSAM pfam_rSAM,pfam_tRNA_wybutosine-synth - no_errors TYW1B HGNC ENSG00000254184 9 0 0 17 7 29.1667 ABCB4 0 genome.wustl.edu 37 7 87035760 87035760 + Silent SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 87035760 87035760 A G SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known silent c.3351 p.A1117 0.007 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 76 0 0 85 22 20.5607 ZNF804B 0 genome.wustl.edu 37 7 88964302 88964302 + Missense_Mutation SNP A A T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 88964302 88964302 A T SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.2006 p.H669L 0.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 103 0 0 101 30 22.9008 STEAP1 0 genome.wustl.edu 37 7 89790313 89790313 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 7 89790313 89790313 A C SNP STEAP1 ENST00000297205 human ensembl 74_37 +1 known missense c.279 p.E93D 0.883 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1 HGNC ENSG00000164647 163 0 0 198 20 9.17431 YWHAZ 0 genome.wustl.edu 37 8 101932970 101932970 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 101932970 101932970 G A SNP YWHAZ ENST00000353245 human ensembl 74_37 -1 known missense c.689 p.S230L 1.000 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 pfam_14-3-3_domain,superfamily_14-3-3_domain,smart_14-3-3_domain,pirsf_14-3-3,prints_14-3-3 - no_errors YWHAZ HGNC ENSG00000164924 101 0 0 211 51 19.4656 PKHD1L1 0 genome.wustl.edu 37 8 110424511 110424511 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 110424511 110424511 G A SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known silent c.2103 p.G701 0.996 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 83 0 0 131 10 7.0922 PKHD1L1 0 genome.wustl.edu 37 8 110527434 110527434 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 110527434 110527434 A C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.11589 p.Q3863H 1.000 NULL pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 19 0 0 27 4 12.9032 CSMD3 0 genome.wustl.edu 37 8 113529404 113529404 + Silent SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 113529404 113529404 G T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known silent c.4615 p.R1539 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 78 0 0 121 17 12.3188 TMEM65 0 genome.wustl.edu 37 8 125334366 125334366 + Silent SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 125334366 125334366 C A SNP TMEM65 ENST00000297632 human ensembl 74_37 -1 known silent c.495 p.V165 0.994 pfam_Transmembrane_protein_65 pfam_Transmembrane_protein_65 - no_errors TMEM65 HGNC ENSG00000164983 102 0 0 190 20 9.52381 DLC1 0 genome.wustl.edu 37 8 12957933 12957933 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 12957933 12957933 C T SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1913 p.G638D 1.000 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 187 0 0 157 45 22.2772 DLC1 0 genome.wustl.edu 37 8 12958076 12958076 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 12958076 12958076 C A SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.1770 p.E590D 0.991 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 94 0 0 89 24 21.2389 EFR3A 0 genome.wustl.edu 37 8 132962265 132962265 + Missense_Mutation SNP G G T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 132962265 132962265 G T SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.416 p.R139L 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 25 0 0 48 7 12.7273 PLEC 0 genome.wustl.edu 37 8 144993129 144993129 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 144993129 144993129 G C SNP PLEC ENST00000322810 human ensembl 74_37 -1 known missense c.11271 p.I3757M 1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 108 0 0 240 28 10.4478 NRG1 0 genome.wustl.edu 37 8 32621751 32621751 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 32621751 32621751 A G SNP NRG1 ENST00000338921 human ensembl 74_37 +1 known missense c.1778 p.D593G 0.995 pfam_Neuregulin_1_C pfam_Neuregulin_1_C,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Ig-like_dom,prints_Neuregulin - no_errors NRG1 HGNC ENSG00000157168 74 0 0 76 7 8.43373 PRDM14 0 genome.wustl.edu 37 8 70981815 70981815 + Nonsense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 70981815 70981815 C T SNP PRDM14 ENST00000276594 human ensembl 74_37 -1 known nonsense c.281 p.W94* 0.302 NULL pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM14 HGNC ENSG00000147596 25 0 0 17 5 22.7273 DEFB106B 0 genome.wustl.edu 37 8 7340238 7340238 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 7340238 7340238 A G SNP DEFB106B ENST00000335479 human ensembl 74_37 -1 known missense c.86 p.L29P 0.000 NULL NULL - no_errors DEFB106B HGNC ENSG00000187082 80 0 0 54 24 30.7692 RUNX1T1 0 genome.wustl.edu 37 8 93004118 93004118 + Splice_Site SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 93004118 93004118 C T SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known splice_site c.774-1 e6-1 1.000 - - - no_errors RUNX1T1 HGNC ENSG00000079102 70 0 0 70 31 30.6931 RUNX1T1 0 genome.wustl.edu 37 8 93023265 93023265 + Missense_Mutation SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 93023265 93023265 A C SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.556 p.F186V 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 133 0 0 111 37 25 POP1 0 genome.wustl.edu 37 8 99139913 99139913 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 8 99139913 99139913 A G SNP POP1 ENST00000349693 human ensembl 74_37 +1 known missense c.233 p.K78R 0.020 NULL pfam_RNase_P/MRP_POP1,pfam_POPLD - no_errors POP1 HGNC ENSG00000104356 136 0 0 272 53 16.3077 OR13C2 0 genome.wustl.edu 37 9 107367876 107367876 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 107367876 107367876 T A SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.33 p.E11D 0.489 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 119 0 0 110 19 14.7287 PTGR1 0 genome.wustl.edu 37 9 114325440 114325440 + Silent SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 114325440 114325440 C G SNP PTGR1 ENST00000309195 human ensembl 74_37 -1 known silent c.951 p.L317 1.000 superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH pfam_ADH_C,superfamily_GroES-like,smart_PKS_ER,tigrfam_B4_12hDH - no_errors PTGR1 HGNC ENSG00000106853 96 0 0 81 26 24.2991 COL27A1 0 genome.wustl.edu 37 9 116930585 116930585 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 116930585 116930585 C A SNP COL27A1 ENST00000356083 human ensembl 74_37 +1 known missense c.750 p.F250L 0.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 122 0 0 121 16 11.6788 HSPA5 0 genome.wustl.edu 37 9 127999057 127999057 + Silent SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 127999057 127999057 G C SNP HSPA5 ENST00000324460 human ensembl 74_37 -1 known silent c.1779 p.T593 1.000 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA5 HGNC ENSG00000044574 213 0 0 261 43 14.1447 SWI5 0 genome.wustl.edu 37 9 131038446 131038446 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 131038446 131038446 G A SNP SWI5 ENST00000320188 human ensembl 74_37 +1 known missense c.22 p.D8N 0.000 NULL pfam_DNA-repair_Swi5 - no_errors SWI5 HGNC ENSG00000175854 151 0 0 162 22 11.9565 MPDZ 0 genome.wustl.edu 37 9 13217225 13217225 + Missense_Mutation SNP T T G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 13217225 13217225 T G SNP MPDZ ENST00000319217 human ensembl 74_37 -1 known missense c.1155 p.Q385H 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ - no_errors MPDZ HGNC ENSG00000107186 22 0 0 12 4 25 TTF1 0 genome.wustl.edu 37 9 135278082 135278082 + Missense_Mutation SNP C C A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 135278082 135278082 C A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.127 p.V43L 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 135 0 0 131 28 17.6101 EHMT1 0 genome.wustl.edu 37 9 140711934 140711934 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 140711934 140711934 G A SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3418 p.V1140M 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 120 0 0 101 29 22.3077 TUBBP5 0 genome.wustl.edu 37 9 141070161 141070161 + RNA SNP T T C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 141070161 141070161 T C SNP TUBBP5 ENST00000290377 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors TUBBP5 HGNC ENSG00000159247 88 0 0 93 6 6.06061 KCNV2 0 genome.wustl.edu 37 9 2718317 2718317 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 2718317 2718317 A G SNP KCNV2 ENST00000382082 human ensembl 74_37 +1 known missense c.578 p.K193R 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNV2 HGNC ENSG00000168263 12 0 0 26 11 29.7297 PCSK5 0 genome.wustl.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 78790192 78790192 C G SNP PCSK5 ENST00000376767 human ensembl 74_37 +1 known missense c.2047 p.R683G 0.006 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 8 0 0 16 5 23.8095 ENSG00000230303 0 genome.wustl.edu 37 9 88401246 88401246 + RNA SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 88401246 88401246 A G SNP ENSG00000230303 ENST00000456242 human ensembl 74_37 -1 known rna NULL NULL 0.033 - - - no_errors RP11-213G2.2 Clone_based_vega_gene ENSG00000230303 76 0 0 75 22 22.6804 TRMT2B 0 genome.wustl.edu 37 X 100278521 100278521 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 100278521 100278521 G A SNP TRMT2B ENST00000372935 human ensembl 74_37 -1 known missense c.694 p.R232C 0.000 NULL pfam_U5_MeTrfase,pfam_Small_mtfrase_dom - no_errors TRMT2B HGNC ENSG00000188917 99 0 0 127 68 34.8718 WWC3 0 genome.wustl.edu 37 X 10046905 10046905 + Missense_Mutation SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 10046905 10046905 G A SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.287 p.R96H 1.000 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 95 0 0 94 136 59.1304 NRK 0 genome.wustl.edu 37 X 105142676 105142676 + Missense_Mutation SNP A A G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 105142676 105142676 A G SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.680 p.D227G 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 13 0 0 15 10 40 NRK 0 genome.wustl.edu 37 X 105193615 105193615 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 105193615 105193615 T A SNP NRK ENST00000428173 human ensembl 74_37 +1 known missense c.4405 p.L1469M 1.000 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom - no_errors NRK HGNC ENSG00000123572 46 0 0 61 24 28.2353 RGAG1 0 genome.wustl.edu 37 X 109697340 109697340 + Silent SNP G G A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 109697340 109697340 G A SNP RGAG1 ENST00000465301 human ensembl 74_37 +1 known silent c.3495 p.E1165 0.954 NULL NULL - no_errors RGAG1 HGNC ENSG00000243978 63 0 0 86 41 32.2835 PAK3 0 genome.wustl.edu 37 X 110435361 110435361 + Silent SNP A A C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 110435361 110435361 A C SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known silent c.945 p.S315 0.994 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 101 0 0 75 99 56.8966 FANCB 0 genome.wustl.edu 37 X 14862735 14862735 + Missense_Mutation SNP G G C TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 14862735 14862735 G C SNP FANCB ENST00000324138 human ensembl 74_37 -1 known missense c.2055 p.I685M 0.909 NULL NULL - no_errors FANCB HGNC ENSG00000181544 83 0 0 44 71 61.7391 SPRY3 0 genome.wustl.edu 37 X 155004392 155004392 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 155004392 155004392 T A SNP SPRY3 ENST00000302805 human ensembl 74_37 +1 known missense c.859 p.S287T 1.000 NULL pfam_Sprouty - no_errors SPRY3 HGNC ENSG00000168939 132 0 0 93 52 35.8621 DMD 0 genome.wustl.edu 37 X 32429933 32429933 + Missense_Mutation SNP T T A TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 32429933 32429933 T A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.4169 p.D1390V 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 51 0 0 24 20 45.4545 HUWE1 0 genome.wustl.edu 37 X 53655775 53655775 + Missense_Mutation SNP C C T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c X 53655775 53655775 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.1042 p.D348N 1.000 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 45 0 0 52 32 38.0952 SYCP1 0 genome.wustl.edu 37 1 115420777 115420783 + Frame_Shift_Del DEL GCTAGAG GCTAGAG - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 GCTAGAG GCTAGAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 115420777 115420783 GCTAGAG - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.864_870 p.L289fs 1.000:1.000:1.000:1.000:1.000:1.000:0.997 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 76 0 0 105 6 5.40541 COPA 0 genome.wustl.edu 37 1 160260467 160260467 + Frame_Shift_Del DEL T T - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 160260467 160260467 T - DEL COPA ENST00000368069 human ensembl 74_37 -1 known frame_shift_del c.3457 p.I1153fs 1.000 pfam_Coatomer_asu_C,pirsf_Coatomer_asu pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 283 0 0 432 33 7.09677 PLK3 0 genome.wustl.edu 37 1 45269063 45269064 + Splice_Site INS - - AGC TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 1 45269063 45269064 - AGC INS PLK3 ENST00000372201 human ensembl 74_37 +1 known splice_site_ins c.1072+2_1072+1 e9-1 1.000:1.000 - - - no_errors PLK3 HGNC ENSG00000173846 75 0 0 84 7 7.69231 NEURL 0 genome.wustl.edu 37 10 105331459 105331460 + Frame_Shift_Ins INS - - T TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 10 105331459 105331460 - T INS NEURL ENST00000369780 human ensembl 74_37 +1 known frame_shift_ins c.529_530 p.R177fs 1.000:0.999 smart_Neu_Z,pfscan_Neu_Z pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z,pfscan_Znf_RING - no_errors NEURL HGNC ENSG00000107954 91 0 0 142 21 12.8834 APPBP2 0 genome.wustl.edu 37 17 58538255 58538255 + RNA DEL T T - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 17 58538255 58538255 T - DEL APPBP2 ENST00000592995 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors APPBP2 HGNC ENSG00000062725 12 0 0 23 6 20.6897 ZNF284 0 genome.wustl.edu 37 19 44590983 44590984 + Frame_Shift_Del DEL GA GA - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 19 44590983 44590984 GA - DEL ZNF284 ENST00000421176 human ensembl 74_37 +1 known frame_shift_del c.1352_1353 p.R453fs 0.928:0.945 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 ZNF284 HGNC ENSG00000186026 125 0 0 133 55 29.2553 TRAK1 0 genome.wustl.edu 37 3 42251582 42251583 + In_Frame_Ins INS - - AGA TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 3 42251582 42251583 - AGA INS TRAK1 ENST00000341421 human ensembl 74_37 +1 known in_frame_ins c.1894_1895 p.633in_frame_insK 0.356:0.350 NULL pfam_HAP1_N,pfam_Traffickng_kinesin-bd_prot_dom - no_errors TRAK1 HGNC ENSG00000182606 130 1 0.763359 140 16 10.2564 RFC1 0 genome.wustl.edu 37 4 39343980 39343984 + Frame_Shift_Del DEL ATGTA ATGTA - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 ATGTA ATGTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 4 39343980 39343984 ATGTA - DEL RFC1 ENST00000381897 human ensembl 74_37 -1 known frame_shift_del c.316_312 p.T105fs 0.997:0.994:1.000:1.000:1.000 superfamily_P-loop_NTPase,pirsf_DNA_replication_fac_C_lsu pfam_DNA_replication_fac_RFC1_C,pfam_BRCT_dom,pfam_ATPase_AAA_core,superfamily_DNA_pol3_clamp-load_cplx_C,superfamily_P-loop_NTPase,superfamily_BRCT_dom,smart_BRCT_dom,smart_AAA+_ATPase,pirsf_DNA_replication_fac_C_lsu,pfscan_BRCT_dom - no_errors RFC1 HGNC ENSG00000035928 140 0 0 118 21 15.1079 NOX3 0 genome.wustl.edu 37 6 155750138 155750139 + Frame_Shift_Ins INS - - G TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 6 155750138 155750139 - G INS NOX3 ENST00000159060 human ensembl 74_37 -1 known frame_shift_ins c.935_934 p.K312fs 0.998:0.999 pfam_FAD-bd_8,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_OxRdtase_FAD-bd_dom,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain - no_errors NOX3 HGNC ENSG00000074771 149 0 0 252 52 17.1053 RABL6 0 genome.wustl.edu 37 9 139734246 139734256 + Frame_Shift_Del DEL GACTGAAGAAT GACTGAAGAAT - TCGA-BR-4357-01A-01D-1158-08 TCGA-BR-4357-11A-01D-1158-08 GACTGAAGAAT GACTGAAGAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq bec6b643-3173-415d-8d12-b585c869018c ec09774d-f21b-4b96-b757-f534d4e4375c 9 139734246 139734256 GACTGAAGAAT - DEL RABL6 ENST00000371663 human ensembl 74_37 +1 known frame_shift_del c.1862_1872 p.K623fs 0.904:0.748:0.703:0.696:0.881:0.997:1.000:1.000:1.000:1.000:0.987 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 70 0 0 105 8 7.07965