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 PAPPA2 0 genome.wustl.edu 37 1 176769239 176769239 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 1 176769239 176769239 G A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.5173 p.V1725I 0.015 superfamily_Notch_dom,smart_Notch_dom pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 42 0 0 53 5 8.62069 CR1 0 genome.wustl.edu 37 1 207753744 207753744 + Missense_Mutation SNP A A C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 1 207753744 207753744 A C SNP CR1 ENST00000367049 human ensembl 74_37 +1 known missense c.5096 p.E1699A 0.001 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 55 0 0 70 6 7.89474 LBR 0 genome.wustl.edu 37 1 225605728 225605728 + Nonsense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 1 225605728 225605728 C T SNP LBR ENST00000272163 human ensembl 74_37 -1 known nonsense c.795 p.W265* 1.000 pfam_Ergosterol_biosynth_ERG4_ERG24 pfam_Ergosterol_biosynth_ERG4_ERG24,pfam_Lamin-B_rcpt_of_tudor,pfam_DUF1295,smart_Tudor - no_errors LBR HGNC ENSG00000143815 23 0 0 27 2 6.89655 RPL22 0 genome.wustl.edu 37 1 6253081 6253081 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 1 6253081 6253081 C T SNP RPL22 ENST00000234875 human ensembl 74_37 -1 known missense c.151 p.G51R 1.000 pfam_Ribosomal_L22e pfam_Ribosomal_L22e - no_errors RPL22 HGNC ENSG00000116251 67 0 0 58 12 17.1429 C1orf173 0 genome.wustl.edu 37 1 75072545 75072545 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 1 75072545 75072545 G A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.1229 p.P410L 0.146 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 47 0 0 42 6 12.5 PAPSS2 0 genome.wustl.edu 37 10 89504933 89504933 + Nonsense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 10 89504933 89504933 C T SNP PAPSS2 ENST00000456849 human ensembl 74_37 +1 known nonsense c.1666 p.R556* 1.000 pfam_Sulfurylase_cat_dom,tigrfam_Sulphate_adenylyltransferase pfam_Sulfurylase_cat_dom,pfam_APS_kinase,superfamily_PUA-like_domain,superfamily_P-loop_NTPase,tigrfam_Sulphate_adenylyltransferase,tigrfam_APS_kinase - no_errors PAPSS2 HGNC ENSG00000198682 17 0 0 26 3 10.3448 ZP1 0 genome.wustl.edu 37 11 60640735 60640735 + Silent SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 11 60640735 60640735 C T SNP ZP1 ENST00000278853 human ensembl 74_37 +1 known silent c.1213 p.L405 1.000 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP1 HGNC ENSG00000149506 73 0 0 90 9 9.09091 KRT86 0 genome.wustl.edu 37 12 52695729 52695729 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 12 52695729 52695729 G A SNP KRT86 ENST00000293525 human ensembl 74_37 +1 known missense c.29 p.R10H 0.048 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT86 HGNC ENSG00000170442 79 0 0 81 6 6.89655 PLXNC1 0 genome.wustl.edu 37 12 94642052 94642052 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 12 94642052 94642052 T C SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.2642 p.L881P 1.000 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 17 0 0 23 4 14.8148 TPTE2 0 genome.wustl.edu 37 13 20006620 20006620 + Silent SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 13 20006620 20006620 C T SNP TPTE2 ENST00000382977 human ensembl 74_37 -1 known silent c.1215 p.S405 0.023 pfam_Tensin_phosphatase_C2-dom,superfamily_C2_dom,pfscan_Tensin_phosphatase_C2-dom pfam_Tensin_phosphatase_C2-dom,pfam_Ion_trans_dom,pfam_Dual-sp_phosphatase_cat-dom,superfamily_C2_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TPTE2 HGNC ENSG00000132958 9 0 0 7 4 36.3636 ATP12A 0 genome.wustl.edu 37 13 25274960 25274960 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 13 25274960 25274960 C T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.1799 p.P600L 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 22 0 0 41 3 6.81818 OR4M1 0 genome.wustl.edu 37 14 20248864 20248864 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 14 20248864 20248864 G A SNP OR4M1 ENST00000315957 human ensembl 74_37 +1 known missense c.383 p.R128Q 0.299 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4M1 HGNC ENSG00000176299 71 0 0 91 18 16.5138 SNORD116-20 0 genome.wustl.edu 37 15 25334031 25334031 + RNA SNP G G T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 15 25334031 25334031 G T SNP SNORD116-20 ENST00000384507 human ensembl 74_37 +1 known rna NULL NULL 0.930 - - - no_errors SNORD116-20 HGNC ENSG00000261069 56 0 0 83 10 10.7527 FMN1 0 genome.wustl.edu 37 15 33360043 33360043 + Nonsense_Mutation SNP C C A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 15 33360043 33360043 C A SNP FMN1 ENST00000334528 human ensembl 74_37 -1 known nonsense c.43 p.E15* 0.002 NULL pfam_FH2_Formin,smart_FH2_Formin,prints_Formin_Cappuccino_subfam - no_errors FMN1 HGNC ENSG00000248905 17 0 0 28 2 6.66667 CTCF 0 genome.wustl.edu 37 16 67650711 67650711 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 16 67650711 67650711 G A SNP CTCF ENST00000264010 human ensembl 74_37 +1 known missense c.1016 p.R339Q 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 79 0 0 84 15 15.1515 CDH1 0 genome.wustl.edu 37 16 68842633 68842633 + Missense_Mutation SNP A A G TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 16 68842633 68842633 A G SNP CDH1 ENST00000261769 human ensembl 74_37 +1 known missense c.569 p.Y190C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 14 0 0 18 3 14.2857 DDX52 0 genome.wustl.edu 37 17 35993390 35993390 + Missense_Mutation SNP C C A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 17 35993390 35993390 C A SNP DDX52 ENST00000349699 human ensembl 74_37 -1 known missense c.345 p.K115N 1.000 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX52 HGNC ENSG00000141141 24 0 0 21 2 8.69565 GPR179 0 genome.wustl.edu 37 17 36499035 36499035 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 17 36499035 36499035 T C SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known missense c.638 p.K213R 1.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 62 0 0 65 13 16.6667 MYH10 0 genome.wustl.edu 37 17 8424505 8424505 + Missense_Mutation SNP G G T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 17 8424505 8424505 G T SNP MYH10 ENST00000396239 human ensembl 74_37 -1 known missense c.2026 p.Q676K 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH10 HGNC ENSG00000133026 64 0 0 78 12 13.3333 ZNF536 0 genome.wustl.edu 37 19 30935607 30935607 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 19 30935607 30935607 C T SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1138 p.R380W 0.999 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 56 0 0 95 10 9.52381 NLRP5 0 genome.wustl.edu 37 19 56565060 56565060 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 19 56565060 56565060 C T SNP NLRP5 ENST00000390649 human ensembl 74_37 +1 known missense c.3185 p.S1062L 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP5 HGNC ENSG00000171487 29 0 0 26 5 16.129 FBN3 0 genome.wustl.edu 37 19 8176641 8176641 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 19 8176641 8176641 G A SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known silent c.3975 p.C1325 0.043 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 37 0 0 48 3 5.88235 POTEE 0 genome.wustl.edu 37 2 132021446 132021446 + Silent SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 2 132021446 132021446 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.2418 p.T806 1.000 pfam_Actin-related,smart_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 POTEE HGNC ENSG00000188219 92 0 0 117 13 10 TTN 0 genome.wustl.edu 37 2 179640850 179640850 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 2 179640850 179640850 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.5741 p.A1914V 1.000 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 65 0 0 84 5 5.61798 DNAH7 0 genome.wustl.edu 37 2 196689076 196689076 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 2 196689076 196689076 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known missense c.9194 p.R3065Q 0.832 NULL 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 39 0 0 48 4 7.69231 C2orf44 0 genome.wustl.edu 37 2 24253988 24253988 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 2 24253988 24253988 G A SNP C2orf44 ENST00000295148 human ensembl 74_37 -1 known missense c.1981 p.P661S 1.000 NULL NULL - no_errors C2orf44 HGNC ENSG00000163026 29 0 0 22 2 8.33333 XKR7 0 genome.wustl.edu 37 20 30585193 30585193 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 20 30585193 30585193 C T SNP XKR7 ENST00000562532 human ensembl 74_37 +1 known missense c.1673 p.T558M 0.428 NULL pfam_Transport_prot_XK - no_errors XKR7 HGNC ENSG00000260903 46 0 0 58 6 9.375 SLC32A1 0 genome.wustl.edu 37 20 37356775 37356775 + Silent SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 20 37356775 37356775 C T SNP SLC32A1 ENST00000217420 human ensembl 74_37 +1 known silent c.1071 p.V357 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors SLC32A1 HGNC ENSG00000101438 24 0 0 34 5 12.8205 MC3R 0 genome.wustl.edu 37 20 54824440 54824440 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 20 54824440 54824440 G A SNP MC3R ENST00000243911 human ensembl 74_37 +1 known missense c.541 p.V181I 0.836 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Melcrt_ACTH_rcpt,prints_Mcort_3_rcpt,prints_GPCR_Rhodpsn,prints_Melancort_rcpt - no_errors MC3R HGNC ENSG00000124089 54 0 0 67 7 9.45946 GRIK1 0 genome.wustl.edu 37 21 30949440 30949440 + Missense_Mutation SNP G G T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 21 30949440 30949440 G T SNP GRIK1 ENST00000535441 human ensembl 74_37 -1 known missense c.1980 p.F660L 1.000 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK1 HGNC ENSG00000171189 37 0 0 57 6 9.52381 KY 0 genome.wustl.edu 37 3 134322629 134322629 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 3 134322629 134322629 C T SNP KY ENST00000423778 human ensembl 74_37 -1 known missense c.1778 p.R593Q 0.997 NULL pfam_Transglutaminase-like,smart_Transglutaminase-like - no_errors KY HGNC ENSG00000174611 20 0 0 38 2 5 C3orf20 0 genome.wustl.edu 37 3 14744671 14744671 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 3 14744671 14744671 G A SNP C3orf20 ENST00000253697 human ensembl 74_37 +1 known silent c.780 p.P260 0.000 NULL NULL - no_errors C3orf20 HGNC ENSG00000131379 67 0 0 140 13 8.49673 SLIT2 0 genome.wustl.edu 37 4 20619221 20619221 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 4 20619221 20619221 G A SNP SLIT2 ENST00000504154 human ensembl 74_37 +1 known silent c.4296 p.G1432 0.633 smart_Fol_N,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT2 HGNC ENSG00000145147 12 0 0 22 2 8.33333 PCDHA2 0 genome.wustl.edu 37 5 140174652 140174652 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 5 140174652 140174652 G A SNP PCDHA2 ENST00000526136 human ensembl 74_37 +1 known missense c.103 p.V35I 0.235 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 PCDHA2 HGNC ENSG00000204969 31 0 0 53 7 11.6667 MTMR12 0 genome.wustl.edu 37 5 32239240 32239240 + Missense_Mutation SNP A A C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 5 32239240 32239240 A C SNP MTMR12 ENST00000382142 human ensembl 74_37 -1 known missense c.1211 p.L404R 1.000 NULL pfam_Myotubularin_assoc - no_errors MTMR12 HGNC ENSG00000150712 17 0 0 21 6 22.2222 CMYA5 0 genome.wustl.edu 37 5 79025999 79025999 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 5 79025999 79025999 G A SNP CMYA5 ENST00000446378 human ensembl 74_37 +1 known missense c.1411 p.A471T 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 60 0 0 70 5 6.66667 TNXB 0 genome.wustl.edu 37 6 32052314 32052314 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 6 32052314 32052314 G A SNP TNXB ENST00000375247 human ensembl 74_37 -1 known silent c.3321 p.P1107 0.016 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 11 0 0 19 3 13.6364 COL22A1 0 genome.wustl.edu 37 8 139737660 139737660 + Silent SNP G G T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 8 139737660 139737660 G T SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known silent c.2163 p.V721 0.271 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 46 0 0 51 7 12.069 ADRA1A 0 genome.wustl.edu 37 8 26722428 26722428 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 8 26722428 26722428 G A SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known missense c.59 p.P20L 0.091 prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 155 1 0.641026 221 21 8.67769 POTEA 0 genome.wustl.edu 37 8 43197470 43197470 + RNA SNP C C A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 8 43197470 43197470 C A SNP POTEA ENST00000522175 human ensembl 74_37 +1 known rna NULL NULL 0.787 - - - no_errors POTEA HGNC ENSG00000188877 27 0 0 30 4 11.7647 PCMTD1 0 genome.wustl.edu 37 8 52733242 52733242 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 8 52733242 52733242 C T SNP PCMTD1 ENST00000360540 human ensembl 74_37 -1 known missense c.743 p.R248H 1.000 NULL pfam_PCMT - no_errors PCMTD1 HGNC ENSG00000168300 20 0 0 32 9 21.9512 PLAG1 0 genome.wustl.edu 37 8 57079229 57079229 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 8 57079229 57079229 T C SNP PLAG1 ENST00000316981 human ensembl 74_37 -1 known missense c.1076 p.Y359C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors PLAG1 HGNC ENSG00000181690 44 0 0 71 5 6.57895 CHD7 0 genome.wustl.edu 37 8 61654739 61654739 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 8 61654739 61654739 C T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.748 p.R250C 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 81 0 0 112 11 8.94309 ABO 0 genome.wustl.edu 37 9 136131415 136131415 + RNA SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 9 136131415 136131415 C T SNP ABO ENST00000453660 human ensembl 74_37 -1 known rna NULL NULL 0.053 - - - no_errors ABO HGNC ENSG00000175164 10 0 0 5 6 54.5455 PAK3 0 genome.wustl.edu 37 X 110406248 110406248 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 X 110406248 110406248 G A SNP PAK3 ENST00000360648 human ensembl 74_37 +1 known missense c.682 p.A228T 1.000 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK3 HGNC ENSG00000077264 29 0 0 57 7 10.9375 NKAP 0 genome.wustl.edu 37 X 119077495 119077495 + Missense_Mutation SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 X 119077495 119077495 G A SNP NKAP ENST00000371410 human ensembl 74_37 -1 known missense c.74 p.S25L 0.004 NULL pfam_DUF926 - no_errors NKAP HGNC ENSG00000101882 39 0 0 37 6 13.9535 TENM1 0 genome.wustl.edu 37 X 123525997 123525997 + Missense_Mutation SNP T T C TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 X 123525997 123525997 T C SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known missense c.5593 p.T1865A 0.377 tigrfam_YD pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 27 0 0 30 5 14.2857 MAGEA6 0 genome.wustl.edu 37 X 151869826 151869826 + Silent SNP C C A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 X 151869826 151869826 C A SNP MAGEA6 ENST00000329342 human ensembl 74_37 +1 known silent c.516 p.I172 0.000 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA6 HGNC ENSG00000197172 63 0 0 98 12 10.9091 REPS2 0 genome.wustl.edu 37 X 17153511 17153511 + Missense_Mutation SNP C C T TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 X 17153511 17153511 C T SNP REPS2 ENST00000357277 human ensembl 74_37 +1 known missense c.1790 p.P597L 0.679 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS2 HGNC ENSG00000169891 104 0 0 111 10 8.26446 TSPAN7 0 genome.wustl.edu 37 X 38420808 38420808 + Silent SNP G G A TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 X 38420808 38420808 G A SNP TSPAN7 ENST00000378482 human ensembl 74_37 +1 known silent c.9 p.S3 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN7 HGNC ENSG00000156298 28 0 0 32 5 13.5135 TPM3 0 genome.wustl.edu 37 1 154144674 154144674 + RNA DEL A A - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 1 154144674 154144674 A - DEL TPM3 ENST00000469717 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors TPM3 HGNC ENSG00000143549 24 0 0 22 4 15.3846 PIGR 0 genome.wustl.edu 37 1 207110476 207110477 + Frame_Shift_Ins INS - - G TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 1 207110476 207110477 - G INS PIGR ENST00000356495 human ensembl 74_37 -1 known frame_shift_ins c.1009_1008 p.S336fs 0.000:0.001 smart_Ig_sub pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 21 0 0 29 3 9.375 NDUFC2 0 genome.wustl.edu 37 11 77784147 77784147 + Frame_Shift_Del DEL A A - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 11 77784147 77784147 A - DEL NDUFC2 ENST00000281031 human ensembl 74_37 -1 known frame_shift_del c.207 p.F69fs 0.809 pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su pfam_NADH-UbQ_OxRdtase_b14.5b_su,pirsf_NADH-UbQ_OxRdtase_b14.5b_su - no_errors NDUFC2 HGNC ENSG00000151366 43 0 0 70 4 5.40541 DLGAP1-AS1 0 genome.wustl.edu 37 18 3597090 3597090 + RNA DEL T T - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 18 3597090 3597090 T - DEL DLGAP1-AS1 ENST00000317114 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors DLGAP1-AS1 HGNC ENSG00000177337 19 0 0 20 3 13.0435 ARL13B 0 genome.wustl.edu 37 3 93754287 93754287 + Splice_Site DEL T T - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 3 93754287 93754287 T - DEL ARL13B ENST00000539730 human ensembl 74_37 +1 known splice_site_del c.1+2 e0+2 0.000 - - - no_errors ARL13B HGNC ENSG00000169379 20 0 0 23 3 11.5385 ABCF1 0 genome.wustl.edu 37 6 30545854 30545854 + Frame_Shift_Del DEL A A - TCGA-BR-8592-01A-11D-2394-08 TCGA-BR-8592-10A-01D-2394-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 58bdfe8b-b1ef-4d25-b404-c3211aa52c43 eb178e61-6b4e-4662-be78-c8a53a87abe4 6 30545854 30545854 A - DEL ABCF1 ENST00000326195 human ensembl 74_37 +1 known frame_shift_del c.218 p.K76fs 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF1 HGNC ENSG00000204574 35 0 0 51 8 13.5593