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 OVGP1 0 genome.wustl.edu 37 1 111957318 111957318 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 111957318 111957318 C T SNP OVGP1 ENST00000369732 human ensembl 74_37 -1 known missense c.1805 p.G602D 0.000 NULL pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_errors OVGP1 HGNC ENSG00000085465 120 0 0 94 49 34.2657 ENSG00000232274 0 genome.wustl.edu 37 1 143209967 143209967 + RNA SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 143209967 143209967 C G SNP ENSG00000232274 ENST00000412204 human ensembl 74_37 -1 known rna NULL NULL 0.967 - - - no_errors RP11-782C8.2 Clone_based_vega_gene ENSG00000232274 49 0 0 35 13 27.0833 FMO5 0 genome.wustl.edu 37 1 146658693 146658693 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 146658693 146658693 A G SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.1388 p.L463S 0.029 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 82 0 0 194 81 29.4545 MSTO1 0 genome.wustl.edu 37 1 155716694 155716694 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 155716694 155716694 G A SNP MSTO1 ENST00000538143 human ensembl 74_37 +1 known missense c.398 p.R133Q 0.000 NULL pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase - no_errors MSTO1 HGNC ENSG00000125459 43 0 0 63 53 45.6897 HDGF 0 genome.wustl.edu 37 1 156721240 156721240 + RNA SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 156721240 156721240 C T SNP HDGF ENST00000469145 human ensembl 74_37 -1 known rna NULL NULL 0.984 - - - no_errors HDGF HGNC ENSG00000143321 29 0 0 52 13 20 SPTA1 0 genome.wustl.edu 37 1 158585084 158585084 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 158585084 158585084 C G SNP SPTA1 ENST00000368147 human ensembl 74_37 -1 known missense c.6710 p.G2237A 1.000 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 305 0 0 630 76 10.7649 OR10J5 0 genome.wustl.edu 37 1 159505686 159505686 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 159505686 159505686 T G SNP OR10J5 ENST00000334857 human ensembl 74_37 -1 known missense c.112 p.T38P 0.015 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10J5 HGNC ENSG00000184155 209 0 0 390 60 13.3333 OLFML2B 0 genome.wustl.edu 37 1 161967674 161967674 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 161967674 161967674 G T SNP OLFML2B ENST00000294794 human ensembl 74_37 -1 known missense c.1415 p.T472K 0.000 NULL pfam_Olfac-like,superfamily_NA-bd_OB-fold,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2B HGNC ENSG00000162745 248 2 0.8 428 143 25.0438 SLC19A2 0 genome.wustl.edu 37 1 169446719 169446719 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 169446719 169446719 A C SNP SLC19A2 ENST00000236137 human ensembl 74_37 -1 known missense c.481 p.C161G 1.000 pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier pfam_Folate_carrier,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pirsf_Folate_carrier - no_errors SLC19A2 HGNC ENSG00000117479 119 0 0 261 27 9.375 FMO2 0 genome.wustl.edu 37 1 171174749 171174749 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 171174749 171174749 C A SNP FMO2 ENST00000209929 human ensembl 74_37 +1 known missense c.1159 p.R387S 1.000 pfam_Flavin_mOase-like,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,prints_Flavin_mOase,prints_Flavin_mOase_2,prints_Flavin_mOase_1,prints_Flavin_mOase_5 - no_errors FMO2 HGNC ENSG00000094963 77 0 0 127 26 16.9935 FMO1 0 genome.wustl.edu 37 1 171251385 171251385 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 171251385 171251385 C T SNP FMO1 ENST00000354841 human ensembl 74_37 +1 known silent c.1096 p.L366 0.981 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2 - no_errors FMO1 HGNC ENSG00000010932 136 1 0.729927 268 59 18.0428 TNN 0 genome.wustl.edu 37 1 175048588 175048588 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 175048588 175048588 G A SNP TNN ENST00000239462 human ensembl 74_37 +1 known missense c.529 p.G177S 1.000 pfam_EGF_extracell,smart_EG-like_dom pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3 - no_errors TNN HGNC ENSG00000120332 17 0 0 28 6 17.6471 HMCN1 0 genome.wustl.edu 37 1 185959498 185959498 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 185959498 185959498 A G SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.3300 p.P1100 0.120 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 279 0 0 319 57 15.1596 MARK1 0 genome.wustl.edu 37 1 220825398 220825398 + Nonsense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 220825398 220825398 C T SNP MARK1 ENST00000366917 human ensembl 74_37 +1 known nonsense c.1642 p.R548* 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors MARK1 HGNC ENSG00000116141 136 0 0 31 139 81.7647 TARBP1 0 genome.wustl.edu 37 1 234586217 234586217 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 234586217 234586217 T C SNP TARBP1 ENST00000040877 human ensembl 74_37 -1 novel silent c.1818 p.V606 0.485 NULL pfam_SpoU_MeTrfase,superfamily_ARM-type_fold - no_errors TARBP1 HGNC ENSG00000059588 57 0 0 85 11 11.4583 OR2G6 0 genome.wustl.edu 37 1 248685614 248685614 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 248685614 248685614 C G SNP OR2G6 ENST00000343414 human ensembl 74_37 +1 known missense c.667 p.Q223E 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2G6 HGNC ENSG00000188558 185 0 0 164 34 17.1717 ZFP69B 0 genome.wustl.edu 37 1 40928715 40928715 + Missense_Mutation SNP T T A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 40928715 40928715 T A SNP ZFP69B ENST00000411995 human ensembl 74_37 +1 known missense c.1059 p.H353Q 0.790 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Tscrpt_reg_SCAN,superfamily_Krueppel-associated_box,superfamily_Retrov_capsid_C,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZFP69B HGNC ENSG00000187801 63 0 0 98 35 26.3158 WDR78 0 genome.wustl.edu 37 1 67306240 67306240 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 67306240 67306240 G A SNP WDR78 ENST00000371026 human ensembl 74_37 -1 known missense c.1406 p.P469L 0.997 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR78 HGNC ENSG00000152763 192 0 0 119 77 39.2857 CAMTA1 0 genome.wustl.edu 37 1 7725165 7725165 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 7725165 7725165 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known missense c.2558 p.S853L 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 105 0 0 33 64 65.9794 LPHN2 0 genome.wustl.edu 37 1 82372880 82372880 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 82372880 82372880 C T SNP LPHN2 ENST00000370717 human ensembl 74_37 +1 known silent c.252 p.C84 1.000 pfam_Lectin_gal-bd_dom,prints_GPCR_2_latrophilin,pfscan_Lectin_gal-bd_dom pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors LPHN2 HGNC ENSG00000117114 181 1 0.549451 139 66 32.1951 DPYD 0 genome.wustl.edu 37 1 98039509 98039509 + Missense_Mutation SNP T T A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 1 98039509 98039509 T A SNP DPYD ENST00000370192 human ensembl 74_37 -1 known missense c.1146 p.E382D 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH - no_errors DPYD HGNC ENSG00000188641 86 0 0 61 38 38.3838 ENTPD7 0 genome.wustl.edu 37 10 101421366 101421366 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 10 101421366 101421366 C G SNP ENTPD7 ENST00000370489 human ensembl 74_37 +1 known missense c.172 p.R58G 0.974 NULL pfam_GDA1_CD39_NTPase - no_errors ENTPD7 HGNC ENSG00000198018 58 0 0 55 20 26.6667 ACTR1A 0 genome.wustl.edu 37 10 104241914 104241914 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 10 104241914 104241914 G A SNP ACTR1A ENST00000369905 human ensembl 74_37 -1 known missense c.769 p.R257W 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR1A HGNC ENSG00000138107 237 0 0 253 57 18.3871 PLEKHA1 0 genome.wustl.edu 37 10 124159876 124159876 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 10 124159876 124159876 G C SNP PLEKHA1 ENST00000368990 human ensembl 74_37 +1 known missense c.216 p.K72N 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA1 HGNC ENSG00000107679 224 0 0 130 190 59.375 GPR26 0 genome.wustl.edu 37 10 125434364 125434364 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 10 125434364 125434364 G A SNP GPR26 ENST00000284674 human ensembl 74_37 +1 known silent c.699 p.K233 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR26 HGNC ENSG00000154478 50 0 0 74 10 11.9048 ADAM8 0 genome.wustl.edu 37 10 135085440 135085440 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 10 135085440 135085440 C T SNP ADAM8 ENST00000445355 human ensembl 74_37 -1 known missense c.976 p.V326M 0.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_Blood-coag_inhib_Disintegrin,pfam_ADAM_Cys-rich,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM8 HGNC ENSG00000151651 154 0 0 192 71 26.9962 ARMC3 0 genome.wustl.edu 37 10 23321810 23321810 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 10 23321810 23321810 G A SNP ARMC3 ENST00000298032 human ensembl 74_37 +1 known missense c.2267 p.G756D 1.000 NULL pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC3 HGNC ENSG00000165309 49 0 0 7 18 72 PGR 0 genome.wustl.edu 37 11 100912766 100912766 + Silent SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 11 100912766 100912766 G C SNP PGR ENST00000325455 human ensembl 74_37 -1 known silent c.2556 p.L852 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Progest_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Progest_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt - no_errors PGR HGNC ENSG00000082175 103 0 0 67 32 32.3232 OR8B12 0 genome.wustl.edu 37 11 124413458 124413458 + Silent SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 11 124413458 124413458 C A SNP OR8B12 ENST00000306842 human ensembl 74_37 -1 known silent c.93 p.L31 0.004 NULL pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR8B12 HGNC ENSG00000170953 136 0 0 96 47 32.8671 QSER1 0 genome.wustl.edu 37 11 32975670 32975670 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 11 32975670 32975670 A G SNP QSER1 ENST00000399302 human ensembl 74_37 +1 known missense c.4058 p.Q1353R 1.000 NULL NULL - no_errors QSER1 HGNC ENSG00000060749 103 0 0 61 51 45.5357 CAPRIN1 0 genome.wustl.edu 37 11 34107866 34107866 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 11 34107866 34107866 T C SNP CAPRIN1 ENST00000341394 human ensembl 74_37 +1 known silent c.1137 p.D379 0.993 pfam_Caprin-1_C pfam_Caprin-1_C - no_errors CAPRIN1 HGNC ENSG00000135387 80 0 0 98 15 13.2743 HRASLS5 0 genome.wustl.edu 37 11 63233831 63233831 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 11 63233831 63233831 C G SNP HRASLS5 ENST00000301790 human ensembl 74_37 -1 known missense c.498 p.E166D 0.722 NULL pfam_LRAT-like_dom - no_errors HRASLS5 HGNC ENSG00000168004 50 0 0 38 23 37.7049 CLEC2B 0 genome.wustl.edu 37 12 10005899 10005899 + Nonstop_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 10005899 10005899 T G SNP CLEC2B ENST00000228438 human ensembl 74_37 -1 known nonstop c.450 p.*150Y 0.000 NULL pfam_C-type_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC2B HGNC ENSG00000110852 72 0 0 21 12 36.3636 ALDH1L2 0 genome.wustl.edu 37 12 105433501 105433501 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 105433501 105433501 T G SNP ALDH1L2 ENST00000258494 human ensembl 74_37 -1 known missense c.2035 p.I679L 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,pirsf_10_FTHF_DH pfam_Aldehyde_DH_dom,pfam_Formyl_transf_N,pfam_Formyl_trans_C,pfam_Acyl_carrier_prot-like,superfamily_Ald_DH/histidinol_DH,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,superfamily_Acyl_carrier_prot-like,pirsf_10_FTHF_DH,pfscan_Acyl_carrier_prot-like - no_errors ALDH1L2 HGNC ENSG00000136010 128 1 0.775194 37 56 60.2151 NCOR2 0 genome.wustl.edu 37 12 124950804 124950804 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 124950804 124950804 G A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.620 p.P207L 1.000 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 103 0 0 35 48 57.8313 ZNF10 0 genome.wustl.edu 37 12 133733085 133733085 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 133733085 133733085 C T SNP ZNF10 ENST00000248211 human ensembl 74_37 +1 known missense c.1253 p.S418F 0.129 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 ZNF10 HGNC ENSG00000256223 234 0 0 187 99 34.6154 TMTC1 0 genome.wustl.edu 37 12 29670473 29670473 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 29670473 29670473 A G SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known silent c.1732 p.L578 0.203 smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 169 0 0 129 116 47.3469 LRRK2 0 genome.wustl.edu 37 12 40653377 40653377 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 40653377 40653377 T G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.1514 p.L505R 1.000 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 153 0 0 190 12 5.94059 PHLDA1 0 genome.wustl.edu 37 12 76424721 76424721 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 76424721 76424721 C T SNP PHLDA1 ENST00000266671 human ensembl 74_37 -1 known silent c.801 p.P267 1.000 smart_Pleckstrin_homology smart_Pleckstrin_homology - no_errors PHLDA1 HGNC ENSG00000139289 63 0 0 36 3 7.69231 ACSS3 0 genome.wustl.edu 37 12 81627146 81627146 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 81627146 81627146 G C SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1615 p.D539H 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 228 1 0.436681 149 68 31.3364 ACSS3 0 genome.wustl.edu 37 12 81627200 81627200 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 81627200 81627200 G T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1669 p.D557Y 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 215 0 0 137 62 31.1558 ACSS3 0 genome.wustl.edu 37 12 81627237 81627237 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 81627237 81627237 G T SNP ACSS3 ENST00000548058 human ensembl 74_37 +1 known missense c.1706 p.G569V 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSS3 HGNC ENSG00000111058 222 0 0 125 66 34.555 KDELC1 0 genome.wustl.edu 37 13 103445952 103445952 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 13 103445952 103445952 T G SNP KDELC1 ENST00000376004 human ensembl 74_37 -1 known missense c.593 p.K198T 1.000 pfam_LipoPS_modifying pfam_LipoPS_modifying,pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,smart_LipoPS_modifying,pfscan_Filamin/ABP280_repeat-like - no_errors KDELC1 HGNC ENSG00000134901 140 0 0 108 62 36.4706 CARS2 0 genome.wustl.edu 37 13 111298372 111298372 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 13 111298372 111298372 A G SNP CARS2 ENST00000257347 human ensembl 74_37 -1 known missense c.1259 p.V420A 0.138 superfamily_tRNAsynth_1a_anticodon-bd,tigrfam_Cys-tRNA-ligase pfam_Cys-tRNA/MSH_ligase,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_aa-tRNA-synth_Ia,superfamily_tRNAsynth_1a_anticodon-bd,prints_Cys-tRNA/MSH_ligase,tigrfam_Cys-tRNA-ligase - no_errors CARS2 HGNC ENSG00000134905 179 0 0 184 85 31.5985 PABPC3 0 genome.wustl.edu 37 13 25671314 25671314 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 13 25671314 25671314 G A SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.978 p.M326I 1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 309 0 0 387 147 27.5281 TOX4 0 genome.wustl.edu 37 14 21961177 21961177 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 14 21961177 21961177 C G SNP TOX4 ENST00000262709 human ensembl 74_37 +1 known missense c.1402 p.P468A 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX4 HGNC ENSG00000092203 210 0 0 274 81 22.8169 G2E3 0 genome.wustl.edu 37 14 31085623 31085623 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 14 31085623 31085623 C G SNP G2E3 ENST00000206595 human ensembl 74_37 +1 known missense c.2004 p.N668K 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_HECT,pfscan_HECT - no_errors G2E3 HGNC ENSG00000092140 37 0 0 8 23 74.1935 HERC2P3 0 genome.wustl.edu 37 15 20588425 20588425 + RNA SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 15 20588425 20588425 C T SNP HERC2P3 ENST00000428453 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors HERC2P3 HGNC ENSG00000180229 24 0 0 12 7 36.8421 WHAMMP3 0 genome.wustl.edu 37 15 23205184 23205184 + RNA SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 15 23205184 23205184 G A SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 0.696 - - - no_errors WHAMMP3 HGNC ENSG00000187667 16 0 0 21 4 16 WHAMMP3 0 genome.wustl.edu 37 15 23205193 23205193 + RNA SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 15 23205193 23205193 A G SNP WHAMMP3 ENST00000400153 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors WHAMMP3 HGNC ENSG00000187667 15 0 0 20 3 13.0435 OCA2 0 genome.wustl.edu 37 15 28228581 28228581 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 15 28228581 28228581 T G SNP OCA2 ENST00000354638 human ensembl 74_37 -1 known missense c.1413 p.E471D 1.000 pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB pfam_Cit_transptr-like_dom,pfam_Na/sul_symport,pfam_Arsenical_pump_ArsB,tigrfam_Arsenical_pump_ArsB - no_errors OCA2 HGNC ENSG00000104044 91 0 0 73 23 23.9583 CLN6 0 genome.wustl.edu 37 15 68504080 68504080 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 15 68504080 68504080 C A SNP CLN6 ENST00000249806 human ensembl 74_37 -1 known missense c.419 p.S140I 0.999 NULL NULL - no_errors CLN6 HGNC ENSG00000128973 243 0 0 202 102 33.5526 ADPGK 0 genome.wustl.edu 37 15 73052844 73052844 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 15 73052844 73052844 G C SNP ADPGK ENST00000311669 human ensembl 74_37 -1 known missense c.547 p.P183A 1.000 pfam_ADP_PFK/GK pfam_ADP_PFK/GK - no_errors ADPGK HGNC ENSG00000159322 173 0 0 118 77 39.4872 IFT140 0 genome.wustl.edu 37 16 1614069 1614069 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 16 1614069 1614069 C T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.1996 p.V666M 0.299 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 114 0 0 76 5 6.17284 LOC653786 0 genome.wustl.edu 37 16 22558305 22558305 + RNA SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 16 22558305 22558305 T C SNP LOC653786 ENST00000550753 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors RP11-368J21.3 Clone_based_vega_gene ENSG00000257838 55 0 0 11 3 21.4286 KIF22 0 genome.wustl.edu 37 16 29802091 29802091 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 16 29802091 29802091 G A SNP KIF22 ENST00000160827 human ensembl 74_37 +1 known missense c.11 p.G4D 0.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_RuvA_2-like,smart_Kinesin_motor_dom,smart_Hlx-hairpin-Hlx_DNA-bd_motif,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF22 HGNC ENSG00000079616 13 0 0 6 6 50 CDH8 0 genome.wustl.edu 37 16 61747758 61747758 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 16 61747758 61747758 G C SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.1641 p.I547M 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 56 0 0 29 15 34.0909 CDH8 0 genome.wustl.edu 37 16 61935315 61935315 + Silent SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 16 61935315 61935315 A C SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known silent c.315 p.A105 0.999 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 102 0 0 55 21 27.6316 FLCN 0 genome.wustl.edu 37 17 17127308 17127308 + Silent SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 17 17127308 17127308 G T SNP FLCN ENST00000285071 human ensembl 74_37 -1 known silent c.546 p.L182 1.000 pfam_Folliculin pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 102 0 0 67 17 20.2381 RAPGEFL1 0 genome.wustl.edu 37 17 38346698 38346698 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 17 38346698 38346698 T C SNP RAPGEFL1 ENST00000264644 human ensembl 74_37 +1 known missense c.509 p.L170P 1.000 superfamily_Ras_GEF_dom pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 - no_errors RAPGEFL1 HGNC ENSG00000108352 97 0 0 71 39 35.4545 KRT33A 0 genome.wustl.edu 37 17 39506755 39506755 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 17 39506755 39506755 G A SNP KRT33A ENST00000007735 human ensembl 74_37 -1 known missense c.265 p.R89W 0.710 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT33A HGNC ENSG00000006059 86 0 0 63 42 40 PRPSAP1 0 genome.wustl.edu 37 17 74328423 74328423 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 17 74328423 74328423 G A SNP PRPSAP1 ENST00000446526 human ensembl 74_37 -1 known silent c.384 p.F128 1.000 tigrfam_Rib-P_diPkinase tigrfam_Rib-P_diPkinase - no_errors PRPSAP1 HGNC ENSG00000161542 171 0 0 170 101 37.2694 TP53 0 genome.wustl.edu 37 17 7578431 7578431 + Nonsense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 17 7578431 7578431 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.499 p.Q167* 0.998 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 89 0 0 21 91 81.25 ROCK1 0 genome.wustl.edu 37 18 18539829 18539829 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 18 18539829 18539829 A G SNP ROCK1 ENST00000399799 human ensembl 74_37 -1 known missense c.3484 p.S1162P 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Rho-bd_dom,pfam_HR1_rho-bd,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK1 HGNC ENSG00000067900 26 0 0 29 4 12.1212 ASXL3 0 genome.wustl.edu 37 18 31319396 31319396 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 18 31319396 31319396 G A SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known silent c.2028 p.L676 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 114 0 0 191 15 7.28155 ELAVL3 0 genome.wustl.edu 37 19 11565551 11565551 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 11565551 11565551 G A SNP ELAVL3 ENST00000359227 human ensembl 74_37 -1 known silent c.894 p.S298 0.990 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_ELAD_HUD_SF pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,prints_Hud_Sxl_RNA,tigrfam_ELAD_HUD_SF - no_errors ELAVL3 HGNC ENSG00000196361 146 0 0 76 69 47.5862 SLC1A6 0 genome.wustl.edu 37 19 15067316 15067316 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 15067316 15067316 G T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.1141 p.L381I 1.000 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 41 0 0 26 16 38.0952 CCDC105 0 genome.wustl.edu 37 19 15121880 15121880 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 15121880 15121880 C T SNP CCDC105 ENST00000292574 human ensembl 74_37 +1 known silent c.243 p.G81 0.790 NULL pfam_Tektin - no_errors CCDC105 HGNC ENSG00000160994 8 0 0 10 5 33.3333 EPHX3 0 genome.wustl.edu 37 19 15342603 15342603 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 15342603 15342603 C T SNP EPHX3 ENST00000221730 human ensembl 74_37 -1 known missense c.313 p.G105S 1.000 prints_Epox_hydrolase-like pfam_AB_hydrolase_1,prints_Epox_hydrolase-like,prints_AB_hydrolase_1 - no_errors EPHX3 HGNC ENSG00000105131 115 0 0 65 36 35.6436 CPAMD8 0 genome.wustl.edu 37 19 17091331 17091331 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 17091331 17091331 G A SNP CPAMD8 ENST00000443236 human ensembl 74_37 -1 known missense c.1702 p.R568C 0.032 pfam_A2M_N_2 pfam_A2M_comp,pfam_A2M_N_2,pfam_Methyltransf_FA,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Kazal_dom,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd,smart_Kazal_dom - no_errors CPAMD8 HGNC ENSG00000160111 97 0 0 100 16 13.7931 ZNF257 0 genome.wustl.edu 37 19 22271975 22271975 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 22271975 22271975 A T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.1423 p.T475S 0.010 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 ZNF257 HGNC ENSG00000197134 106 0 0 74 9 10.8434 ZNF257 0 genome.wustl.edu 37 19 22272025 22272025 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 22272025 22272025 A G SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known silent c.1473 p.E491 0.075 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 ZNF257 HGNC ENSG00000197134 113 0 0 82 10 10.8696 ZNF536 0 genome.wustl.edu 37 19 30935907 30935907 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 30935907 30935907 G A SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1438 p.V480I 0.773 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 103 1 0.961538 632 57 8.27286 SPTBN4 0 genome.wustl.edu 37 19 41000878 41000878 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 41000878 41000878 G A SNP SPTBN4 ENST00000352632 human ensembl 74_37 +1 known missense c.662 p.R221Q 0.999 pirsf_Spectrin_bsu,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN4 HGNC ENSG00000160460 79 0 0 25 33 56.8966 SHC2 0 genome.wustl.edu 37 19 422149 422149 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 422149 422149 G A SNP SHC2 ENST00000264554 human ensembl 74_37 -1 known silent c.1617 p.G539 0.998 pfam_SH2,smart_SH2,pfscan_SH2 pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC2 HGNC ENSG00000129946 16 0 0 22 9 29.0323 RPS9 0 genome.wustl.edu 37 19 54705417 54705417 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 54705417 54705417 C A SNP RPS9 ENST00000302907 human ensembl 74_37 +1 known missense c.160 p.R54S 1.000 pfam_Ribosomal_S4/S9_N,tigrfam_Ribosomal_S4/S9_euk/arc pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,smart_S4_RNA-bd,pfscan_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 43 0 0 36 3 7.69231 MUC16 0 genome.wustl.edu 37 19 9007487 9007487 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 19 9007487 9007487 T C SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.39481 p.T13161A 0.017 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 42 0 0 6 14 70 SH3RF3 0 genome.wustl.edu 37 2 110053479 110053479 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 110053479 110053479 G A SNP SH3RF3 ENST00000309415 human ensembl 74_37 +1 known missense c.1705 p.A569T 0.000 superfamily_SH3_domain pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,prints_p67phox,pfscan_SH3_domain,pfscan_Znf_RING - no_errors SH3RF3 HGNC ENSG00000172985 92 0 0 72 38 34.5455 ZC3H6 0 genome.wustl.edu 37 2 113088706 113088706 + Silent SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 113088706 113088706 C G SNP ZC3H6 ENST00000343936 human ensembl 74_37 +1 known silent c.2211 p.L737 0.001 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H6 HGNC ENSG00000188177 37 0 0 27 17 38.6364 POTEF 0 genome.wustl.edu 37 2 130832597 130832597 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 130832597 130832597 G A SNP POTEF ENST00000357462 human ensembl 74_37 -1 known silent c.2448 p.R816 1.000 pfam_Actin-related,smart_Actin-related,prints_Actin-related pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEF HGNC ENSG00000196604 265 0 0 196 120 37.9747 ENSG00000241772 0 genome.wustl.edu 37 2 139326687 139326687 + RNA SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 139326687 139326687 T G SNP ENSG00000241772 ENST00000449869 human ensembl 74_37 +1 known rna NULL NULL 0.992 - - - no_errors AC092620.2 Clone_based_vega_gene ENSG00000241772 236 0 0 262 34 11.4865 LRP1B 0 genome.wustl.edu 37 2 141272221 141272221 + Splice_Site SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 141272221 141272221 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known splice_site c.8269+1 e51+1 1.000 - - - no_errors LRP1B HGNC ENSG00000168702 139 0 0 111 58 34.3195 LRP1B 0 genome.wustl.edu 37 2 141625336 141625336 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 141625336 141625336 A T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.4402 p.Y1468N 1.000 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP1B HGNC ENSG00000168702 176 0 0 103 58 36.0248 ARHGAP15 0 genome.wustl.edu 37 2 144245037 144245037 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 144245037 144245037 A C SNP ARHGAP15 ENST00000295095 human ensembl 74_37 +1 known missense c.799 p.T267P 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP15 HGNC ENSG00000075884 187 0 0 102 52 33.7662 ZEB2 0 genome.wustl.edu 37 2 145147197 145147197 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 145147197 145147197 C A SNP ZEB2 ENST00000303660 human ensembl 74_37 -1 known missense c.3466 p.G1156C 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZEB2 HGNC ENSG00000169554 358 0 0 275 119 30.203 DNAH7 0 genome.wustl.edu 37 2 196636411 196636411 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 196636411 196636411 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.11406 p.S3802 0.854 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 207 0 0 189 94 33.2155 GTF3C3 0 genome.wustl.edu 37 2 197639881 197639881 + Nonsense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 197639881 197639881 G C SNP GTF3C3 ENST00000263956 human ensembl 74_37 -1 known nonsense c.1790 p.S597* 1.000 NULL smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors GTF3C3 HGNC ENSG00000119041 51 0 0 49 39 44.3182 ALPP 0 genome.wustl.edu 37 2 233243531 233243531 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 2 233243531 233243531 C G SNP ALPP ENST00000392027 human ensembl 74_37 +1 known missense c.19 p.L7V 0.627 NULL pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 73 0 0 69 37 34.9057 PHF20 0 genome.wustl.edu 37 20 34501210 34501210 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 20 34501210 34501210 A G SNP PHF20 ENST00000374012 human ensembl 74_37 +1 known missense c.1601 p.K534R 1.000 NULL pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2 - no_errors PHF20 HGNC ENSG00000025293 17 0 0 27 4 12.9032 MATN4 0 genome.wustl.edu 37 20 43926920 43926920 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 20 43926920 43926920 G A SNP MATN4 ENST00000372754 human ensembl 74_37 -1 known missense c.1439 p.A480V 0.939 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_VWF_A - no_errors MATN4 HGNC ENSG00000124159 106 0 0 178 42 19.0909 NFATC2 0 genome.wustl.edu 37 20 50139845 50139845 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 20 50139845 50139845 G A SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.935 p.T312M 0.045 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 45 0 0 94 62 39.7436 ZNF217 0 genome.wustl.edu 37 20 52193274 52193274 + Silent SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 20 52193274 52193274 T G SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known silent c.2029 p.R677 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 322 0 0 507 1602 75.9602 RAE1 0 genome.wustl.edu 37 20 55949675 55949675 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 20 55949675 55949675 G A SNP RAE1 ENST00000371242 human ensembl 74_37 +1 known missense c.838 p.A280T 0.973 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 349 0 0 406 174 30 LAMA5 0 genome.wustl.edu 37 20 60887023 60887023 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 20 60887023 60887023 G A SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known silent c.9588 p.F3196 0.004 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 119 0 0 180 69 27.7108 DONSON 0 genome.wustl.edu 37 21 34957049 34957049 + Missense_Mutation SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 21 34957049 34957049 C G SNP DONSON ENST00000303071 human ensembl 74_37 -1 known missense c.632 p.R211P 1.000 NULL NULL - no_errors DONSON HGNC ENSG00000159147 90 0 0 35 29 45.3125 ELFN2 0 genome.wustl.edu 37 22 37769783 37769783 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 22 37769783 37769783 G A SNP ELFN2 ENST00000402918 human ensembl 74_37 -1 known missense c.1792 p.R598W 1.000 NULL superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,pfscan_LPXTG_anchor - no_errors ELFN2 HGNC ENSG00000166897 32 0 0 26 14 35 KCNJ4 0 genome.wustl.edu 37 22 38823394 38823394 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 22 38823394 38823394 G A SNP KCNJ4 ENST00000303592 human ensembl 74_37 -1 known silent c.744 p.I248 0.904 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.3 - no_errors KCNJ4 HGNC ENSG00000168135 59 0 0 52 32 38.0952 EFCAB6 0 genome.wustl.edu 37 22 43926804 43926804 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 22 43926804 43926804 A T SNP EFCAB6 ENST00000262726 human ensembl 74_37 -1 known missense c.4274 p.L1425Q 0.892 NULL pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors EFCAB6 HGNC ENSG00000186976 94 0 0 92 8 8 DZIP3 0 genome.wustl.edu 37 3 108380769 108380769 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 108380769 108380769 G A SNP DZIP3 ENST00000361582 human ensembl 74_37 +1 known missense c.2245 p.E749K 0.981 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DZIP3 HGNC ENSG00000198919 70 0 0 62 30 32.6087 ITGB5 0 genome.wustl.edu 37 3 124527925 124527925 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 124527925 124527925 C A SNP ITGB5 ENST00000296181 human ensembl 74_37 -1 known missense c.1207 p.D403Y 1.000 pirsf_Integrin_bsu,pfam_Integrin_bsu_N,smart_Integrin_bsu_N pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_cyt_dom,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_VWF_A,prints_Integrin_bsu - no_errors ITGB5 HGNC ENSG00000082781 170 0 0 120 78 39.3939 COL6A6 0 genome.wustl.edu 37 3 130381114 130381114 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 130381114 130381114 G A SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.6464 p.G2155D 0.051 pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 284 0 0 222 129 36.7521 STAG1 0 genome.wustl.edu 37 3 136342064 136342064 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 136342064 136342064 T C SNP STAG1 ENST00000383202 human ensembl 74_37 -1 known missense c.56 p.H19R 1.000 NULL pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 227 0 0 171 112 39.576 CNTN6 0 genome.wustl.edu 37 3 1394007 1394007 + Splice_Site SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 1394007 1394007 G C SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known splice_site c.1365-1 e11-1 0.997 - - - no_errors CNTN6 HGNC ENSG00000134115 90 0 0 34 34 50 ATP1B3 0 genome.wustl.edu 37 3 141644421 141644421 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 141644421 141644421 A G SNP ATP1B3 ENST00000286371 human ensembl 74_37 +1 known missense c.718 p.N240D 0.000 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP1B3 HGNC ENSG00000069849 259 0 0 197 135 40.6627 CNTN6 0 genome.wustl.edu 37 3 1424781 1424781 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 1424781 1424781 T G SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2322 p.F774L 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 CNTN6 HGNC ENSG00000134115 138 0 0 60 49 44.9541 PHC3 0 genome.wustl.edu 37 3 169840471 169840471 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 169840471 169840471 C T SNP PHC3 ENST00000495893 human ensembl 74_37 -1 known missense c.1850 p.R617Q 0.116 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC3 HGNC ENSG00000173889 113 0 0 122 49 28.655 LINC00969 0 genome.wustl.edu 37 3 195400822 195400822 + RNA SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 195400822 195400822 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 23 0 0 30 11 26.8293 LINC00969 0 genome.wustl.edu 37 3 195410622 195410622 + Splice_Site SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 195410622 195410622 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known splice_site c.NULL NULL 1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 11 0 0 25 4 13.7931 FBXL2 0 genome.wustl.edu 37 3 33427243 33427243 + RNA SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 33427243 33427243 G A SNP FBXL2 ENST00000283627 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors FBXL2 HGNC ENSG00000153558 11 0 0 13 9 40.9091 SLC25A38 0 genome.wustl.edu 37 3 39433101 39433101 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 39433101 39433101 C T SNP SLC25A38 ENST00000273158 human ensembl 74_37 +1 known missense c.446 p.T149M 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A38 HGNC ENSG00000144659 211 0 0 154 87 36.0996 P4HTM 0 genome.wustl.edu 37 3 49027828 49027828 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 49027828 49027828 C T SNP P4HTM ENST00000343546 human ensembl 74_37 +1 known missense c.139 p.R47C 0.996 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 20 0 0 13 10 43.4783 TMEM115 0 genome.wustl.edu 37 3 50396054 50396054 + Silent SNP C C G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 50396054 50396054 C G SNP TMEM115 ENST00000266025 human ensembl 74_37 -1 known silent c.441 p.V147 1.000 pfam_DUF1751_Mem_euk pfam_DUF1751_Mem_euk - no_errors TMEM115 HGNC ENSG00000126062 38 0 0 44 30 40.5405 PRSS12 0 genome.wustl.edu 37 4 119252907 119252907 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 4 119252907 119252907 G A SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.935 p.A312V 0.861 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 100 0 0 64 4 5.88235 FRG1 0 genome.wustl.edu 37 4 190874255 190874255 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 4 190874255 190874255 A T SNP FRG1 ENST00000226798 human ensembl 74_37 +1 known missense c.292 p.T98S 1.000 pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking pfam_FRG1,pfam_Fascin-domain,superfamily_Actin_cross-linking - no_errors FRG1 HGNC ENSG00000109536 53 0 0 31 6 16.2162 GABRB1 0 genome.wustl.edu 37 4 47033662 47033662 + RNA SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 4 47033662 47033662 G T SNP GABRB1 ENST00000509366 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GABRB1 HGNC ENSG00000163288 133 0 0 96 53 35.5705 IL8 0 genome.wustl.edu 37 4 74607379 74607379 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 4 74607379 74607379 C T SNP IL8 ENST00000307407 human ensembl 74_37 +1 known missense c.185 p.A62V 0.000 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors IL8 HGNC ENSG00000169429 85 0 0 47 19 28.7879 PAQR3 0 genome.wustl.edu 37 4 79860320 79860320 + Nonsense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 4 79860320 79860320 C T SNP PAQR3 ENST00000511594 human ensembl 74_37 -1 known nonsense c.59 p.W20* 1.000 NULL pfam_HlyIII-related - no_errors PAQR3 HGNC ENSG00000163291 124 0 0 36 71 66.3551 NAA11 0 genome.wustl.edu 37 4 80246965 80246965 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 4 80246965 80246965 G A SNP NAA11 ENST00000286794 human ensembl 74_37 -1 known missense c.67 p.P23S 0.999 superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAA11 HGNC ENSG00000156269 83 0 0 66 5 7.04225 SNCAIP 0 genome.wustl.edu 37 5 121739511 121739511 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 121739511 121739511 G A SNP SNCAIP ENST00000379538 human ensembl 74_37 +1 known missense c.35 p.R12Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 197 0 0 166 124 42.7586 PCDHA3 0 genome.wustl.edu 37 5 140180983 140180983 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 140180983 140180983 G A SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known silent c.201 p.A67 0.578 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 237 0 0 190 123 39.2971 PCDHGA10 0 genome.wustl.edu 37 5 140794719 140794719 + Silent SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 140794719 140794719 C T SNP PCDHGA10 ENST00000398610 human ensembl 74_37 +1 known silent c.1977 p.S659 0.005 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA10 HGNC ENSG00000253846 114 0 0 85 50 37.037 PCDHGB7 0 genome.wustl.edu 37 5 140799123 140799123 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 140799123 140799123 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known missense c.1697 p.A566V 0.489 superfamily_Cadherin-like pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 57 0 0 36 22 37.931 TNIP1 0 genome.wustl.edu 37 5 150422226 150422226 + Nonsense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 150422226 150422226 C A SNP TNIP1 ENST00000315050 human ensembl 74_37 -1 known nonsense c.1009 p.E337* 1.000 NULL superfamily_ARM-type_fold - no_errors TNIP1 HGNC ENSG00000145901 38 0 0 43 25 36.7647 EBF1 0 genome.wustl.edu 37 5 158204508 158204508 + Silent SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 158204508 158204508 G T SNP EBF1 ENST00000313708 human ensembl 74_37 -1 known silent c.949 p.R317 1.000 pfam_IPT,superfamily_Ig_E-set,smart_IPT pfam_IPT,superfamily_Ig_E-set,superfamily_bHLH_dom,smart_IPT - no_errors EBF1 HGNC ENSG00000164330 176 0 0 127 67 34.5361 SQSTM1 0 genome.wustl.edu 37 5 179263587 179263587 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 179263587 179263587 G A SNP SQSTM1 ENST00000510187 human ensembl 74_37 +1 putative missense c.1067 p.R356H 0.000 NULL pfam_Znf_ZZ,pfam_OPR_PB1,smart_OPR_PB1,smart_Znf_ZZ,pfscan_Znf_ZZ - no_errors SQSTM1 HGNC ENSG00000161011 241 0 0 184 106 36.5517 RXFP3 0 genome.wustl.edu 37 5 33937955 33937955 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 33937955 33937955 G A SNP RXFP3 ENST00000330120 human ensembl 74_37 +1 known silent c.1110 p.A370 0.958 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Formyl_pep_rcpt - no_errors RXFP3 HGNC ENSG00000182631 156 0 0 278 67 19.4203 FGF10 0 genome.wustl.edu 37 5 44388771 44388771 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 5 44388771 44388771 A C SNP FGF10 ENST00000264664 human ensembl 74_37 -1 known missense c.14 p.I5R 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam - no_errors FGF10 HGNC ENSG00000070193 69 0 0 165 26 13.6126 METTL24 0 genome.wustl.edu 37 6 110620262 110620262 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 110620262 110620262 T C SNP METTL24 ENST00000338882 human ensembl 74_37 -1 known missense c.649 p.I217V 0.000 NULL NULL - no_errors METTL24 HGNC ENSG00000053328 108 0 0 78 49 38.5827 KIAA0408 0 genome.wustl.edu 37 6 127775078 127775078 + Nonsense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 127775078 127775078 C A SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel nonsense c.49 p.E17* 1.000 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 181 0 0 211 40 15.9363 PEX3 0 genome.wustl.edu 37 6 143792193 143792193 + Missense_Mutation SNP G G T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 143792193 143792193 G T SNP PEX3 ENST00000367591 human ensembl 74_37 +1 known missense c.427 p.D143Y 1.000 pfam_Peroxin-3 pfam_Peroxin-3 - no_errors PEX3 HGNC ENSG00000034693 131 0 0 145 79 35.2679 UST 0 genome.wustl.edu 37 6 149394999 149394999 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 149394999 149394999 C T SNP UST ENST00000367463 human ensembl 74_37 +1 known missense c.968 p.T323M 1.000 pfam_Sulfotransferase pfam_Sulfotransferase,pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors UST HGNC ENSG00000111962 85 0 0 147 25 14.5349 KATNA1 0 genome.wustl.edu 37 6 149944303 149944303 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 149944303 149944303 T C SNP KATNA1 ENST00000335647 human ensembl 74_37 -1 known missense c.437 p.N146S 0.997 NULL pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors KATNA1 HGNC ENSG00000186625 171 0 0 217 90 29.316 ARID1B 0 genome.wustl.edu 37 6 157527345 157527345 + Nonsense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 157527345 157527345 C A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known nonsense c.5190 p.C1730* 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 462 1 0.215983 593 316 34.7635 CDYL 0 genome.wustl.edu 37 6 4954159 4954159 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 4954159 4954159 C T SNP CDYL ENST00000328908 human ensembl 74_37 +1 known missense c.1666 p.R556C 1.000 NULL pfam_Crotonase_core_superfam,pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow - no_errors CDYL HGNC ENSG00000153046 40 0 0 46 4 8 DST 0 genome.wustl.edu 37 6 56469646 56469646 + Silent SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 56469646 56469646 A T SNP DST ENST00000370754 human ensembl 74_37 -1 known silent c.9681 p.I3227 0.000 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 98 0 0 52 40 43.4783 RIMS1 0 genome.wustl.edu 37 6 72955550 72955550 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 6 72955550 72955550 C T SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.2114 p.P705L 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 61 0 0 63 5 7.35294 CHRM2 0 genome.wustl.edu 37 7 136700630 136700630 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 136700630 136700630 A G SNP CHRM2 ENST00000320658 human ensembl 74_37 +1 known missense c.1018 p.T340A 0.002 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M2_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM2 HGNC ENSG00000181072 116 0 0 116 25 17.7305 CNTNAP2 0 genome.wustl.edu 37 7 147869380 147869380 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 147869380 147869380 G C SNP CNTNAP2 ENST00000361727 human ensembl 74_37 +1 known missense c.2820 p.L940F 0.999 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EG-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 99 0 0 95 22 18.8034 TMUB1 0 genome.wustl.edu 37 7 150779627 150779627 + Silent SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 150779627 150779627 A G SNP TMUB1 ENST00000297533 human ensembl 74_37 -1 known silent c.24 p.G8 0.995 NULL pfam_Ubiquitin_dom,pfscan_Ubiquitin_supergroup - no_errors TMUB1 HGNC ENSG00000164897 76 0 0 67 32 32.3232 TAX1BP1 0 genome.wustl.edu 37 7 27832693 27832693 + Silent SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 27832693 27832693 T C SNP TAX1BP1 ENST00000396319 human ensembl 74_37 +1 known silent c.1272 p.T424 0.856 pfam_CoCoA pfam_CoCoA - no_errors TAX1BP1 HGNC ENSG00000106052 39 0 0 48 9 15.7895 IKZF1 0 genome.wustl.edu 37 7 50468108 50468108 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 50468108 50468108 C T SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1343 p.A448V 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 43 0 0 29 16 35.5556 CCDC132 0 genome.wustl.edu 37 7 92935138 92935138 + Splice_Site SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 92935138 92935138 A G SNP CCDC132 ENST00000305866 human ensembl 74_37 +1 known splice_site c.1453-2 e18-2 1.000 - - - no_errors CCDC132 HGNC ENSG00000004766 104 0 0 75 45 37.5 COL1A2 0 genome.wustl.edu 37 7 94059632 94059632 + Missense_Mutation SNP A A C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 94059632 94059632 A C SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.4028 p.D1343A 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 241 0 0 168 137 44.918 COL1A2 0 genome.wustl.edu 37 7 94059634 94059634 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 7 94059634 94059634 A T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.4030 p.I1344F 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 244 0 0 173 137 44.1935 DCAF13 0 genome.wustl.edu 37 8 104427572 104427572 + Silent SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 104427572 104427572 T G SNP DCAF13 ENST00000297579 human ensembl 74_37 +1 known silent c.354 p.T118 0.984 NULL pfam_Sof1,pfam_WD40_repeat,pfam_TIF_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF13 HGNC ENSG00000164934 127 0 0 175 22 11.1675 DEFB136 0 genome.wustl.edu 37 8 11831582 11831582 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 11831582 11831582 G C SNP DEFB136 ENST00000382209 human ensembl 74_37 -1 known missense c.101 p.T34S 0.013 NULL NULL - no_errors DEFB136 HGNC ENSG00000205884 261 0 0 340 74 17.8744 FAM135B 0 genome.wustl.edu 37 8 139164785 139164785 + Missense_Mutation SNP T T G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 139164785 139164785 T G SNP FAM135B ENST00000395297 human ensembl 74_37 -1 known missense c.1933 p.S645R 0.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 143 0 0 178 65 26.749 RECQL4 0 genome.wustl.edu 37 8 145741255 145741255 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 145741255 145741255 C T SNP RECQL4 ENST00000428558 human ensembl 74_37 -1 known missense c.1151 p.R384Q 1.000 NULL pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_DNA_rep_checkpnt_protein,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors RECQL4 HGNC ENSG00000160957 42 0 0 36 11 23.4043 SCARA3 0 genome.wustl.edu 37 8 27528492 27528492 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 27528492 27528492 C T SNP SCARA3 ENST00000301904 human ensembl 74_37 +1 known missense c.1445 p.P482L 0.790 pfam_Collagen pfam_Collagen - no_errors SCARA3 HGNC ENSG00000168077 163 0 0 163 76 31.7992 SNORD13 0 genome.wustl.edu 37 8 33371050 33371050 + RNA SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 33371050 33371050 G A SNP SNORD13 ENST00000459299 human ensembl 74_37 +1 known rna NULL NULL 0.884 - - - no_errors SNORD13 HGNC ENSG00000239039 107 0 0 148 77 34.2222 CSPP1 0 genome.wustl.edu 37 8 68084687 68084687 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 68084687 68084687 G C SNP CSPP1 ENST00000262210 human ensembl 74_37 +1 known missense c.2850 p.M950I 1.000 NULL NULL - no_errors CSPP1 HGNC ENSG00000104218 119 0 0 131 22 14.3791 STAU2 0 genome.wustl.edu 37 8 74516095 74516095 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 74516095 74516095 C T SNP STAU2 ENST00000524300 human ensembl 74_37 -1 known missense c.895 p.G299R 1.000 NULL pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,pfscan_dsRNA-bd_dom - no_errors STAU2 HGNC ENSG00000040341 67 0 0 83 32 27.8261 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 8 88365898 88365898 T C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396P 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 74 0 0 77 34 30.6306 CDKN2A 0 genome.wustl.edu 37 9 21971119 21971119 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 9 21971119 21971119 C T SNP CDKN2A ENST00000446177 human ensembl 74_37 -1 known missense c.239 p.R80Q 0.875 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom - no_errors CDKN2A HGNC ENSG00000147889 26 0 0 27 28 50.9091 NOL6 0 genome.wustl.edu 37 9 33466322 33466322 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 9 33466322 33466322 G A SNP NOL6 ENST00000297990 human ensembl 74_37 -1 known silent c.2193 p.Y731 0.942 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 156 0 0 104 74 41.573 AK3 0 genome.wustl.edu 37 9 4741007 4741007 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 9 4741007 4741007 G A SNP AK3 ENST00000381809 human ensembl 74_37 -1 known silent c.81 p.I27 0.982 pfam_Adenylate_kin,superfamily_P-loop_NTPase,tigrfam_Adenyl_kin_sub pfam_Adenylate_kin,pfam_Adenylate_kinase_lid-dom,superfamily_P-loop_NTPase,superfamily_Adenylate_kinase_lid-dom,prints_Adenylate_kin,tigrfam_Adenyl_kin_sub - no_errors AK3 HGNC ENSG00000147853 16 0 0 19 11 36.6667 GLDC 0 genome.wustl.edu 37 9 6610217 6610217 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 9 6610217 6610217 C A SNP GLDC ENST00000321612 human ensembl 74_37 -1 known missense c.610 p.A204S 1.000 pfam_GDC-P_N,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo pfam_GDC-P_N,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase,tigrfam_GDC_P_homo - no_errors GLDC HGNC ENSG00000178445 26 0 0 24 17 41.4634 SEMA4D 0 genome.wustl.edu 37 9 91993768 91993768 + Missense_Mutation SNP C C T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 9 91993768 91993768 C T SNP SEMA4D ENST00000356444 human ensembl 74_37 -1 known missense c.2440 p.G814S 1.000 NULL pfam_Semap_dom,pfam_Plexin_repeat,pfam_Immunoglobulin,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Ig_sub,smart_Ig_sub2,pfscan_Semap_dom,pfscan_Ig-like_dom - no_errors SEMA4D HGNC ENSG00000187764 139 0 0 112 56 33.3333 LINC00475 0 genome.wustl.edu 37 9 94907220 94907220 + RNA SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 9 94907220 94907220 G A SNP LINC00475 ENST00000438322 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors LINC00475 HGNC ENSG00000225511 35 0 0 7 20 74.0741 FRMPD4 0 genome.wustl.edu 37 X 12736052 12736052 + Missense_Mutation SNP G G C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 X 12736052 12736052 G C SNP FRMPD4 ENST00000380682 human ensembl 74_37 +1 known missense c.3107 p.G1036A 1.000 NULL pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ,pfscan_WW_dom - no_errors FRMPD4 HGNC ENSG00000169933 79 0 0 26 78 75 FANCB 0 genome.wustl.edu 37 X 14883234 14883234 + Silent SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 X 14883234 14883234 G A SNP FANCB ENST00000324138 human ensembl 74_37 -1 known silent c.399 p.G133 0.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 38 0 0 11 49 81.6667 P2RY8 0 genome.wustl.edu 37 X 1585028 1585028 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 X 1585028 1585028 C A SNP P2RY8 ENST00000381297 human ensembl 74_37 -1 known missense c.424 p.A142S 0.033 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors P2RY8 HGNC ENSG00000182162 21 0 0 34 16 32 NHS 0 genome.wustl.edu 37 X 17745707 17745707 + Missense_Mutation SNP G G A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 X 17745707 17745707 G A SNP NHS ENST00000380060 human ensembl 74_37 +1 known missense c.3418 p.D1140N 0.204 NULL NULL - no_errors NHS HGNC ENSG00000188158 111 0 0 95 49 34.0278 MAOA 0 genome.wustl.edu 37 X 43603732 43603732 + Missense_Mutation SNP A A T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 X 43603732 43603732 A T SNP MAOA ENST00000338702 human ensembl 74_37 +1 known missense c.1556 p.Y519F 0.083 NULL pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_mOase_FAD-bd,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_FAD_bind_dom,prints_Flavin_amine_oxidase - no_errors MAOA HGNC ENSG00000189221 75 0 0 93 7 7 PABPC5 0 genome.wustl.edu 37 X 90690690 90690690 + Missense_Mutation SNP C C A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 X 90690690 90690690 C A SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.114 p.F38L 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 23 0 0 6 20 76.9231 PABPC5 0 genome.wustl.edu 37 X 90690691 90690691 + Missense_Mutation SNP A A G TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 X 90690691 90690691 A G SNP PABPC5 ENST00000312600 human ensembl 74_37 +1 known missense c.115 p.R39G 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC5 HGNC ENSG00000174740 23 0 0 6 20 76.9231 VEZT 0 genome.wustl.edu 37 12 95660288 95660289 + Frame_Shift_Ins INS - - A TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 12 95660288 95660289 - A INS VEZT ENST00000436874 human ensembl 74_37 +1 known frame_shift_ins c.590_591 p.Y200fs 0.994:0.911 NULL NULL - no_errors VEZT HGNC ENSG00000028203 231 0 0 245 69 21.9745 ENSG00000259479 0 genome.wustl.edu 37 15 45123755 45123756 + RNA INS - - C TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 15 45123755 45123756 - C INS ENSG00000259479 ENST00000561384 human ensembl 74_37 -1 putative rna NULL NULL 0.632:0.983 - - - no_errors CTD-2008A1.2 Clone_based_vega_gene ENSG00000259479 15 0 0 3 4 57.1429 LINC00969 0 genome.wustl.edu 37 3 195400814 195400815 + Splice_Site INS - - TT TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 3 195400814 195400815 - TT INS LINC00969 ENST00000414625 human ensembl 74_37 +1 known splice_site_ins c.NULL NULL 0.999:1.000 - - - no_errors LINC00969 HGNC ENSG00000242086 27 0 0 50 9 15.2542 PRKG2 0 genome.wustl.edu 37 4 82065441 82065442 + Frame_Shift_Ins INS - - T TCGA-BR-4366-01A-01D-1158-08 TCGA-BR-4366-11A-01D-1158-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq eb78138d-9862-4c8e-ac8f-a5a2a31628cc 993d8925-5c1f-43d2-9000-0f6c8f754710 4 82065441 82065442 - T INS PRKG2 ENST00000264399 human ensembl 74_37 -1 known frame_shift_ins c.1198_1197 p.Y399fs 1.000:0.995 superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_cGMP-dependent_protein_kinase,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin - no_errors PRKG2 HGNC ENSG00000138669 199 0 0 151 31 17.033