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 TAS1R3 0 genome.wustl.edu 37 1 1268156 1268156 + Silent SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 1 1268156 1268156 C T SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known silent c.1245 p.C415 0.367 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3 - no_errors TAS1R3 HGNC ENSG00000169962 46 0 0 46 4 8 PLEKHM2 0 genome.wustl.edu 37 1 16059105 16059105 + Splice_Site SNP A A C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 1 16059105 16059105 A C SNP PLEKHM2 ENST00000375799 human ensembl 74_37 +1 known splice_site c.2806-2 e19-2 1.000 - - - no_errors PLEKHM2 HGNC ENSG00000116786 13 0 0 16 3 15.7895 USP48 0 genome.wustl.edu 37 1 22030758 22030758 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 1 22030758 22030758 G A SNP USP48 ENST00000308271 human ensembl 74_37 -1 known missense c.2512 p.P838S 1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67,pfscan_Ubiquitin_supergroup - no_errors USP48 HGNC ENSG00000090686 55 0 0 52 9 14.7541 EXO1 0 genome.wustl.edu 37 1 242045261 242045261 + Missense_Mutation SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 1 242045261 242045261 A T SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known missense c.2153 p.Q718L 0.008 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 67 0 0 50 7 12.2807 ARID1A 0 genome.wustl.edu 37 1 27097694 27097694 + Nonsense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 1 27097694 27097694 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.3283 p.Q1095* 1.000 pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 59 0 0 61 8 11.5942 MYO3A 0 genome.wustl.edu 37 10 26482184 26482184 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 10 26482184 26482184 C T SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known missense c.4489 p.R1497W 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 53 0 0 36 6 14.2857 AGAP10 0 genome.wustl.edu 37 10 47207813 47207813 + Missense_Mutation SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 10 47207813 47207813 T C SNP AGAP10 ENST00000413193 human ensembl 74_37 -1 known missense c.683 p.H228R 1.000 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP10 HGNC ENSG00000204172 18 0 0 27 5 15.625 PANK1 0 genome.wustl.edu 37 10 91371722 91371722 + Nonsense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 10 91371722 91371722 C A SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known nonsense c.787 p.E263* 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 94 0 0 94 10 9.61538 BDNF 0 genome.wustl.edu 37 11 27679732 27679732 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 11 27679732 27679732 C T SNP BDNF ENST00000438929 human ensembl 74_37 -1 known missense c.626 p.R209Q 1.000 NULL pfam_Nerve_growth_factor-rel,smart_Nerve_growth_factor-rel,pfscan_Nerve_growth_factor-rel,prints_Brain-der_neurotrophic_factor,prints_Nerve_growth_factor-rel - no_errors BDNF HGNC ENSG00000176697 74 0 0 71 10 12.3457 CTNND1 0 genome.wustl.edu 37 11 57575682 57575682 + Nonsense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 11 57575682 57575682 C A SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known nonsense c.2009 p.S670* 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 28 0 0 31 4 11.4286 BTBD11 0 genome.wustl.edu 37 12 108010928 108010928 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 108010928 108010928 G A SNP BTBD11 ENST00000280758 human ensembl 74_37 +1 known silent c.2064 p.S688 0.006 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_BTB_POZ,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,superfamily_Histone-fold,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors BTBD11 HGNC ENSG00000151136 97 0 0 77 13 14.4444 CCDC60 0 genome.wustl.edu 37 12 119926657 119926657 + Silent SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 119926657 119926657 C T SNP CCDC60 ENST00000327554 human ensembl 74_37 +1 known silent c.543 p.T181 1.000 NULL NULL - no_errors CCDC60 HGNC ENSG00000183273 106 0 0 95 19 16.6667 HNF1A 0 genome.wustl.edu 37 12 121435302 121435302 + Missense_Mutation SNP T T G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 121435302 121435302 T G SNP HNF1A ENST00000257555 human ensembl 74_37 +1 known missense c.1335 p.S445R 0.180 pfam_HNF1b_C pfam_HNF1b_C,pfam_HNF-1_N,pfam_HNF1a_C,pfam_Homeobox_dom,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_HNF1_dimer_dom,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HNF1A HGNC ENSG00000135100 61 0 0 39 3 7.14286 NCOR2 0 genome.wustl.edu 37 12 124841237 124841237 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 124841237 124841237 C A SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.3213 p.K1071N 0.999 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 25 0 0 21 2 8.69565 ADAMTS20 0 genome.wustl.edu 37 12 43771289 43771289 + Missense_Mutation SNP T T G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 43771289 43771289 T G SNP ADAMTS20 ENST00000389420 human ensembl 74_37 -1 known missense c.4874 p.K1625T 0.000 superfamily_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS20 HGNC ENSG00000173157 31 0 0 35 5 12.5 MON2 0 genome.wustl.edu 37 12 62943575 62943575 + Missense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 62943575 62943575 G C SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.2884 p.E962Q 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 56 0 0 58 5 7.93651 CD163 0 genome.wustl.edu 37 12 7651576 7651576 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 7651576 7651576 C G SNP CD163 ENST00000359156 human ensembl 74_37 -1 known missense c.666 p.W222C 1.000 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 159 0 0 160 14 8.04598 WNK1 0 genome.wustl.edu 37 12 939261 939261 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 12 939261 939261 G A SNP WNK1 ENST00000530271 human ensembl 74_37 +1 known missense c.1246 p.A416T 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK1 HGNC ENSG00000060237 89 0 0 56 13 18.8406 SLITRK5 0 genome.wustl.edu 37 13 88328641 88328641 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 13 88328641 88328641 G A SNP SLITRK5 ENST00000325089 human ensembl 74_37 +1 known missense c.998 p.G333E 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK5 HGNC ENSG00000165300 123 0 0 99 10 9.17431 MIR329-1 0 genome.wustl.edu 37 14 101493161 101493161 + RNA SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 14 101493161 101493161 A T SNP MIR329-1 ENST00000385028 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors MIR329-1 HGNC ENSG00000207761 118 0 0 95 5 5 HSP90AA1 0 genome.wustl.edu 37 14 102551035 102551035 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 14 102551035 102551035 C T SNP HSP90AA1 ENST00000334701 human ensembl 74_37 -1 known missense c.1330 p.D444N 1.000 pirsf_Hsp90_fam,pfam_Hsp90_fam,superfamily_Ribosomal_S5_D2-typ_fold pirsf_Hsp90_fam,pfam_Hsp90_fam,pfam_HATPase_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_HATPase_ATP-bd,smart_HATPase_ATP-bd,prints_Hsp90_N - no_errors HSP90AA1 HGNC ENSG00000080824 155 0 0 135 10 6.89655 AHNAK2 0 genome.wustl.edu 37 14 105415147 105415147 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 14 105415147 105415147 G A SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.6641 p.A2214V 0.002 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 140 0 0 108 10 8.47458 TEP1 0 genome.wustl.edu 37 14 20852247 20852247 + Missense_Mutation SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 14 20852247 20852247 T C SNP TEP1 ENST00000262715 human ensembl 74_37 -1 known missense c.3484 p.R1162G 1.000 superfamily_P-loop_NTPase,pfscan_NACHT_NTPase pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_P-loop_NTPase,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TEP1 HGNC ENSG00000129566 83 0 0 51 10 16.3934 CLEC14A 0 genome.wustl.edu 37 14 38724436 38724436 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 14 38724436 38724436 G A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known silent c.792 p.D264 0.002 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 170 0 0 162 11 6.35838 UNKL 0 genome.wustl.edu 37 16 1417222 1417222 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 16 1417222 1417222 C A SNP UNKL ENST00000402641 human ensembl 74_37 -1 known missense c.414 p.E138D 0.998 NULL pfscan_Znf_RING - no_errors UNKL HGNC ENSG00000059145 18 0 0 14 2 12.5 ABCA3 0 genome.wustl.edu 37 16 2331442 2331442 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 16 2331442 2331442 G A SNP ABCA3 ENST00000301732 human ensembl 74_37 -1 known silent c.4104 p.I1368 0.992 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA3 HGNC ENSG00000167972 95 0 0 90 6 6.25 LCMT1 0 genome.wustl.edu 37 16 25137355 25137355 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 16 25137355 25137355 C G SNP LCMT1 ENST00000380962 human ensembl 74_37 +1 known missense c.184 p.L62V 0.003 NULL NULL - no_errors LCMT1 HGNC ENSG00000205629 27 0 0 13 5 27.7778 PRRT2 0 genome.wustl.edu 37 16 29825054 29825054 + Silent SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 16 29825054 29825054 C A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known silent c.679 p.R227 0.013 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 18 0 0 17 2 10.5263 BCL7C 0 genome.wustl.edu 37 16 30903924 30903924 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 16 30903924 30903924 C T SNP BCL7C ENST00000380317 human ensembl 74_37 -1 known missense c.425 p.R142Q 0.006 NULL pfam_BCL7 - no_errors BCL7C HGNC ENSG00000099385 41 0 0 26 4 13.3333 CNTNAP4 0 genome.wustl.edu 37 16 76486648 76486648 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 16 76486648 76486648 C T SNP CNTNAP4 ENST00000307431 human ensembl 74_37 +1 known missense c.1312 p.P438S 0.998 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,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,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP4 HGNC ENSG00000152910 22 0 0 26 2 7.14286 CAMKK1 0 genome.wustl.edu 37 17 3787704 3787704 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 17 3787704 3787704 G A SNP CAMKK1 ENST00000381771 human ensembl 74_37 -1 known silent c.378 p.N126 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CAMKK1 HGNC ENSG00000004660 222 0 0 180 13 6.73575 CCR7 0 genome.wustl.edu 37 17 38711207 38711207 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 17 38711207 38711207 G A SNP CCR7 ENST00000246657 human ensembl 74_37 -1 known silent c.924 p.Y308 0.002 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Chemokine_CXCR4,prints_Chemokine_CCRL1 - no_errors CCR7 HGNC ENSG00000126353 71 0 0 50 15 23.0769 RNF167 0 genome.wustl.edu 37 17 4848302 4848302 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 17 4848302 4848302 C G SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.1044 p.I348M 0.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 238 0 0 191 12 5.91133 BCAS3 0 genome.wustl.edu 37 17 59155713 59155713 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 17 59155713 59155713 C T SNP BCAS3 ENST00000390652 human ensembl 74_37 +1 known missense c.2195 p.T732I 1.000 pfam_BCAS3 pfam_BCAS3,pfam_WD40_repeat - no_errors BCAS3 HGNC ENSG00000141376 62 0 0 45 13 22.4138 ABCA10 0 genome.wustl.edu 37 17 67197769 67197769 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 17 67197769 67197769 C A SNP ABCA10 ENST00000269081 human ensembl 74_37 -1 known missense c.1047 p.K349N 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 52 0 0 65 6 8.4507 MIB1 0 genome.wustl.edu 37 18 19444574 19444574 + Missense_Mutation SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 18 19444574 19444574 A T SNP MIB1 ENST00000261537 human ensembl 74_37 +1 known missense c.2968 p.S990C 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Ankyrin_rpt,pfam_Mib_Herc2,pfam_Znf_ZZ,superfamily_Ankyrin_rpt-contain_dom,smart_Znf_ZZ,smart_Ankyrin_rpt,smart_Znf_RING,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_RING,pfscan_Znf_ZZ,prints_Ankyrin_rpt - no_errors MIB1 HGNC ENSG00000101752 147 0 0 108 14 11.4754 DHPS 0 genome.wustl.edu 37 19 12790510 12790510 + Missense_Mutation SNP T T A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 19 12790510 12790510 T A SNP DHPS ENST00000210060 human ensembl 74_37 -1 known missense c.518 p.N173I 1.000 pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase pfam_Deoxyhypusine_synthase,tigrfam_Deoxyhypusine_synthase - no_errors DHPS HGNC ENSG00000095059 209 0 0 158 38 19.3878 ZNF737 0 genome.wustl.edu 37 19 20728254 20728254 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 19 20728254 20728254 C G SNP ZNF737 ENST00000427401 human ensembl 74_37 -1 known missense c.755 p.S252T 0.994 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 ZNF737 HGNC ENSG00000237440 51 0 0 40 3 6.97674 CYP2S1 0 genome.wustl.edu 37 19 41700606 41700606 + Missense_Mutation SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 19 41700606 41700606 A T SNP CYP2S1 ENST00000310054 human ensembl 74_37 +1 known missense c.335 p.D112V 0.002 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450_E_grp-I_CYP2B-like,prints_Cyt_P450_B - no_errors CYP2S1 HGNC ENSG00000167600 70 0 0 53 4 7.01754 CEACAM5 0 genome.wustl.edu 37 19 42219758 42219758 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 19 42219758 42219758 C T SNP CEACAM5 ENST00000221992 human ensembl 74_37 +1 known missense c.893 p.T298M 0.075 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM5 HGNC ENSG00000105388 102 1 0.970874 88 25 22.1239 ZNF221 0 genome.wustl.edu 37 19 44470470 44470470 + Silent SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 19 44470470 44470470 T C SNP ZNF221 ENST00000251269 human ensembl 74_37 +1 known silent c.816 p.H272 0.025 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 ZNF221 HGNC ENSG00000159905 188 0 0 182 33 15.3488 UHRF1 0 genome.wustl.edu 37 19 4929291 4929291 + RNA SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 19 4929291 4929291 C A SNP UHRF1 ENST00000262952 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UHRF1 HGNC ENSG00000034063 80 0 0 69 7 9.21053 MYBPC2 0 genome.wustl.edu 37 19 50958504 50958504 + Silent SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 19 50958504 50958504 T C SNP MYBPC2 ENST00000357701 human ensembl 74_37 +1 known silent c.2154 p.A718 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC2 HGNC ENSG00000086967 184 0 0 185 33 15.1376 TUBA3E 0 genome.wustl.edu 37 2 130951688 130951688 + Nonsense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 2 130951688 130951688 G A SNP TUBA3E ENST00000312988 human ensembl 74_37 -1 known nonsense c.727 p.R243* 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin - no_errors TUBA3E HGNC ENSG00000152086 169 0 0 151 23 13.2184 AMER3 0 genome.wustl.edu 37 2 131520836 131520836 + Missense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 2 131520836 131520836 G C SNP AMER3 ENST00000321420 human ensembl 74_37 +1 known missense c.1191 p.E397D 1.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors AMER3 HGNC ENSG00000178171 54 0 0 50 12 19.3548 RAPGEF4 0 genome.wustl.edu 37 2 173898667 173898667 + Missense_Mutation SNP T T A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 2 173898667 173898667 T A SNP RAPGEF4 ENST00000397081 human ensembl 74_37 +1 known missense c.2675 p.F892Y 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_cNMP-bd_dom,pfam_DEP_dom,pfam_Ras-like_Gua-exchang_fac_N,pfam_Ras-assoc,superfamily_Ras_GEF_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_DEP_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_DEP_dom,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_cAMP/cGMP_kin - no_errors RAPGEF4 HGNC ENSG00000091428 60 0 0 59 13 18.0556 VWC2L 0 genome.wustl.edu 37 2 215278974 215278974 + Silent SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 2 215278974 215278974 C T SNP VWC2L ENST00000312504 human ensembl 74_37 +1 known silent c.57 p.V19 1.000 NULL smart_VWF_C,pfscan_VWF_C - no_errors VWC2L HGNC ENSG00000174453 71 0 0 93 6 6.06061 ARPC2 0 genome.wustl.edu 37 2 219110154 219110154 + Silent SNP A A G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 2 219110154 219110154 A G SNP ARPC2 ENST00000295685 human ensembl 74_37 +1 known silent c.561 p.E187 1.000 pfam_P34-arc pfam_P34-arc - no_errors ARPC2 HGNC ENSG00000163466 111 1 0.892857 120 10 7.69231 WDPCP 0 genome.wustl.edu 37 2 63631623 63631623 + Missense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 2 63631623 63631623 G C SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known missense c.995 p.T332S 1.000 pfam_DUF3312,superfamily_WD40_repeat_dom pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 110 0 0 120 7 5.51181 ELMO2 0 genome.wustl.edu 37 20 45003173 45003173 + Splice_Site SNP A A T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 20 45003173 45003173 A T SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known splice_site c.1206+2 e13+2 1.000 - - - no_errors ELMO2 HGNC ENSG00000062598 48 0 0 71 4 5.33333 MOCS3 0 genome.wustl.edu 37 20 49576176 49576176 + Missense_Mutation SNP G G T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 20 49576176 49576176 G T SNP MOCS3 ENST00000244051 human ensembl 74_37 +1 known missense c.797 p.G266V 0.430 pfam_MoeZ_MoeB,superfamily_Molybdenum_cofac_synth_MoeB pfam_ThiF_NAD_FAD-bd,pfam_MoeZ_MoeB,pfam_Rhodanese-like_dom,superfamily_Molybdenum_cofac_synth_MoeB,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors MOCS3 HGNC ENSG00000124217 78 0 0 66 6 8.33333 DYRK1A 0 genome.wustl.edu 37 21 38877823 38877823 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 21 38877823 38877823 G A SNP DYRK1A ENST00000398960 human ensembl 74_37 +1 known missense c.1477 p.V493I 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DYRK1A HGNC ENSG00000157540 181 0 0 143 21 12.8049 NIPSNAP1 0 genome.wustl.edu 37 22 29956772 29956772 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 22 29956772 29956772 G A SNP NIPSNAP1 ENST00000216121 human ensembl 74_37 -1 known silent c.657 p.G219 0.090 pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel pfam_NIPSNAP,superfamily_Dimeric_a/b-barrel - no_errors NIPSNAP1 HGNC ENSG00000184117 201 0 0 187 19 9.2233 PKDREJ 0 genome.wustl.edu 37 22 46657925 46657925 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 22 46657925 46657925 C G SNP PKDREJ ENST00000253255 human ensembl 74_37 -1 known missense c.1295 p.R432T 1.000 pfam_PKD/REJ-like,pfscan_REJ-like pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_PLAT/LH2_dom,pfam_Ion_trans_dom,superfamily_Lipase_LipOase,smart_GPS_dom,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,pfscan_REJ-like,prints_PKD_2 - no_errors PKDREJ HGNC ENSG00000130943 96 0 0 78 8 9.30233 MYLK 0 genome.wustl.edu 37 3 123419688 123419688 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 3 123419688 123419688 C T SNP MYLK ENST00000360304 human ensembl 74_37 -1 known missense c.2627 p.R876H 0.977 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors MYLK HGNC ENSG00000065534 136 0 0 96 26 21.3115 PIK3CA 0 genome.wustl.edu 37 3 178921553 178921553 + Missense_Mutation SNP T T A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 3 178921553 178921553 T A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1035 p.N345K 1.000 superfamily_C2_dom,smart_PI3K_C2_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 71 0 0 72 10 12.1951 LEPREL1 0 genome.wustl.edu 37 3 189690711 189690711 + Missense_Mutation SNP T T G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 3 189690711 189690711 T G SNP LEPREL1 ENST00000319332 human ensembl 74_37 -1 known missense c.1651 p.T551P 1.000 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors LEPREL1 HGNC ENSG00000090530 66 0 0 53 17 24.2857 BDH1 0 genome.wustl.edu 37 3 197238850 197238850 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 3 197238850 197238850 G A SNP BDH1 ENST00000358186 human ensembl 74_37 -1 known silent c.948 p.H316 1.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH - no_errors BDH1 HGNC ENSG00000161267 245 0 0 170 54 24.1071 MYRIP 0 genome.wustl.edu 37 3 40251427 40251427 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 3 40251427 40251427 G A SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.1748 p.R583Q 0.977 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 81 0 0 71 5 6.57895 TRPC3 0 genome.wustl.edu 37 4 122801003 122801003 + Missense_Mutation SNP G G T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 4 122801003 122801003 G T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known missense c.2654 p.S885Y 1.000 superfamily_ARM-type_fold,tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 58 0 0 58 7 10.7692 LRBA 0 genome.wustl.edu 37 4 151836804 151836804 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 4 151836804 151836804 G A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known silent c.970 p.L324 1.000 superfamily_ConA-like_lec_gl_sf pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 50 0 0 51 3 5.55556 PLRG1 0 genome.wustl.edu 37 4 155461124 155461124 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 4 155461124 155461124 C A SNP PLRG1 ENST00000393905 human ensembl 74_37 -1 known missense c.1021 p.A341S 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom 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 PLRG1 HGNC ENSG00000171566 150 0 0 122 19 13.4752 GUCY1A3 0 genome.wustl.edu 37 4 156638314 156638314 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 4 156638314 156638314 G A SNP GUCY1A3 ENST00000296518 human ensembl 74_37 +1 known missense c.1576 p.E526K 1.000 pfam_A/G_cyclase,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase pfam_A/G_cyclase,pfam_Haem_no_assoc-bd,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A3 HGNC ENSG00000164116 111 0 0 99 18 15.3846 TRIML2 0 genome.wustl.edu 37 4 189012674 189012674 + Missense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 4 189012674 189012674 C A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known missense c.1017 p.M339I 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 134 0 0 123 9 6.81818 GABRA2 0 genome.wustl.edu 37 4 46264078 46264078 + Silent SNP A A G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 4 46264078 46264078 A G SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known silent c.759 p.A253 0.989 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 109 0 0 105 9 7.89474 PPAT 0 genome.wustl.edu 37 4 57301585 57301585 + Nonsense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 4 57301585 57301585 G C SNP PPAT ENST00000264220 human ensembl 74_37 -1 known nonsense c.59 p.S20* 0.968 pfam_GATase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans pfam_GATase_dom,pfam_PRibTrfase_dom,pirsf_Amd_phspho_trans,tigrfam_Amd_phspho_trans - no_errors PPAT HGNC ENSG00000128059 161 0 0 144 23 13.7725 DNAH5 0 genome.wustl.edu 37 5 13701516 13701516 + Missense_Mutation SNP G G T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 5 13701516 13701516 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.13368 p.F4456L 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 84 0 0 89 6 6.31579 CDC23 0 genome.wustl.edu 37 5 137537841 137537841 + Nonsense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 5 137537841 137537841 C A SNP CDC23 ENST00000394886 human ensembl 74_37 -1 known nonsense c.376 p.G126* 1.000 pfam_APC8 pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 29 0 0 25 3 10.7143 PTGER4 0 genome.wustl.edu 37 5 40692250 40692250 + Missense_Mutation SNP A A C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 5 40692250 40692250 A C SNP PTGER4 ENST00000302472 human ensembl 74_37 +1 known missense c.1237 p.N413H 0.096 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Prost_EP4_rcpt,prints_Prostanoid_rcpt,prints_GPCR_Rhodpsn,prints_Prostglndn_DP_rcpt - no_errors PTGER4 HGNC ENSG00000171522 53 0 0 50 16 24.2424 HCN1 0 genome.wustl.edu 37 5 45695943 45695943 + Nonsense_Mutation SNP C C A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 5 45695943 45695943 C A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known nonsense c.253 p.E85* 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 35 0 0 32 5 13.5135 PRDM1 0 genome.wustl.edu 37 6 106553508 106553508 + Silent SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 6 106553508 106553508 G A SNP PRDM1 ENST00000369096 human ensembl 74_37 +1 known silent c.1473 p.A491 0.992 pirsf_Znf_PRDM1 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 66 0 0 49 9 15.5172 ROS1 0 genome.wustl.edu 37 6 117641088 117641088 + Silent SNP T T C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 6 117641088 117641088 T C SNP ROS1 ENST00000368508 human ensembl 74_37 -1 known silent c.5883 p.E1961 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ROS1 HGNC ENSG00000047936 116 0 0 111 11 9.01639 ESR1 0 genome.wustl.edu 37 6 152420094 152420094 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 6 152420094 152420094 C T SNP ESR1 ENST00000206249 human ensembl 74_37 +1 known missense c.1781 p.T594M 0.178 NULL pfam_Oestr_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Oestr_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors ESR1 HGNC ENSG00000091831 39 0 0 33 11 25 FNDC1 0 genome.wustl.edu 37 6 159636057 159636057 + Missense_Mutation SNP C C T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 6 159636057 159636057 C T SNP FNDC1 ENST00000297267 human ensembl 74_37 +1 known missense c.541 p.R181C 0.624 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC1 HGNC ENSG00000164694 54 0 0 66 8 10.8108 TTBK1 0 genome.wustl.edu 37 6 43251528 43251528 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 6 43251528 43251528 G A SNP TTBK1 ENST00000259750 human ensembl 74_37 +1 known missense c.3050 p.G1017D 0.985 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors TTBK1 HGNC ENSG00000146216 58 0 0 59 10 14.4928 LRRC1 0 genome.wustl.edu 37 6 53785539 53785539 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 6 53785539 53785539 G A SNP LRRC1 ENST00000370888 human ensembl 74_37 +1 known missense c.1396 p.D466N 0.998 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC1 HGNC ENSG00000137269 48 0 0 58 8 12.1212 ZMIZ2 0 genome.wustl.edu 37 7 44797586 44797586 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 7 44797586 44797586 C G SNP ZMIZ2 ENST00000309315 human ensembl 74_37 +1 known missense c.692 p.P231R 0.786 NULL pfam_Znf_MIZ,pfscan_Znf_MIZ - no_errors ZMIZ2 HGNC ENSG00000122515 81 0 0 73 4 5.19481 TRAPPC9 0 genome.wustl.edu 37 8 141460940 141460940 + Missense_Mutation SNP A A G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 8 141460940 141460940 A G SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known missense c.827 p.L276P 1.000 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 30 0 0 26 2 7.14286 PPP6C 0 genome.wustl.edu 37 9 127920613 127920613 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 9 127920613 127920613 G A SNP PPP6C ENST00000451402 human ensembl 74_37 -1 known missense c.397 p.L133F 1.000 pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP6C HGNC ENSG00000119414 156 0 0 144 17 10.559 TTF1 0 genome.wustl.edu 37 9 135267587 135267587 + Missense_Mutation SNP G G C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 9 135267587 135267587 G C SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known missense c.1863 p.S621R 0.002 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 41 0 0 44 3 6.38298 CCDC171 0 genome.wustl.edu 37 9 15920398 15920398 + Missense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 9 15920398 15920398 G A SNP CCDC171 ENST00000380701 human ensembl 74_37 +1 known missense c.3731 p.R1244H 1.000 NULL superfamily_STAT_TF_coiled-coil - no_errors CCDC171 HGNC ENSG00000164989 64 0 0 83 10 10.7527 ZBTB33 0 genome.wustl.edu 37 X 119389023 119389023 + Missense_Mutation SNP C C G TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 X 119389023 119389023 C G SNP ZBTB33 ENST00000326624 human ensembl 74_37 +1 known missense c.1753 p.R585G 1.000 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 55 0 0 55 5 8.33333 BCOR 0 genome.wustl.edu 37 X 39923604 39923604 + Nonsense_Mutation SNP G G A TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 X 39923604 39923604 G A SNP BCOR ENST00000378444 human ensembl 74_37 -1 known nonsense c.3487 p.R1163* 0.680 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCOR HGNC ENSG00000183337 25 0 0 29 11 27.5 SIK3 0 genome.wustl.edu 37 11 116798045 116798045 + Frame_Shift_Del DEL A A - TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 11 116798045 116798045 A - DEL SIK3 ENST00000375300 human ensembl 74_37 -1 known frame_shift_del c.506 p.F169fs 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom - no_errors SIK3 HGNC ENSG00000160584 137 0 0 147 15 9.25926 INPPL1 0 genome.wustl.edu 37 11 71948747 71948748 + Frame_Shift_Ins INS - - C TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 11 71948747 71948748 - C INS INPPL1 ENST00000298229 human ensembl 74_37 +1 known frame_shift_ins c.3459_3460 p.R1155fs 0.976:0.962 NULL pfam_Endo/exonuclease/phosphatase,pfam_SH2,pfam_SAM_2,pfam_SAM_type1,superfamily_Endo/exonuclease/phosphatase,superfamily_SAM/pointed,smart_SH2,smart_IPPc,smart_SAM,pfscan_SAM,pfscan_SH2,prints_SH2 - no_errors INPPL1 HGNC ENSG00000165458 34 0 0 22 3 12 RRP7B 0 genome.wustl.edu 37 22 42970115 42970116 + RNA INS - - T TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 22 42970115 42970116 - T INS RRP7B ENST00000458605 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.002 - - - no_errors RRP7B HGNC ENSG00000182841 46 0 0 45 4 8.16327 MED12 0 genome.wustl.edu 37 X 70360680 70360682 + In_Frame_Del DEL GCA GCA - TCGA-BR-7196-01A-11D-2053-08 TCGA-BR-7196-10A-01D-2053-08 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq fd3a3c08-528b-44e9-bd44-1b6c48248baa 8627b3c5-c183-425c-96a0-c86a4ac4de83 X 70360680 70360682 GCA - DEL MED12 ENST00000333646 human ensembl 74_37 +1 known in_frame_del c.6249_6251 p.Q2087in_frame_del 0.997:1.000:1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 20 0 0 16 2 11.1111