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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All ACTN1 0 genome.wustl.edu 37 14 69349628 69349628 + Missense_Mutation SNP T T C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 14 69349628 69349628 T C SNP ACTN1 ENST00000394419 human ensembl 69_37n -1 known missense c.1780 p.T594A 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_EF-hand_Ca_insen,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors ACTN1 HGNC ENSG00000072110 137 0 0.00 116 39 25.16 - - - ADCK5 0 genome.wustl.edu 37 8 145616200 145616200 + Missense_Mutation SNP T T C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 8 145616200 145616200 T C SNP ADCK5 ENST00000308860 human ensembl 69_37n +1 known missense c.487 p.Y163H 1.000 NULL pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 57 0 0.00 44 20 31.25 - - - ALMS1 0 genome.wustl.edu 37 2 73717262 73717262 + Missense_Mutation SNP A A G TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 2 73717262 73717262 A G SNP ALMS1 ENST00000264448 human ensembl 69_37n +1 known missense c.8173 p.I2725V 0.992 NULL NULL - no_errors ALMS1 HGNC ENSG00000116127 67 0 0.00 40 22 35.48 - - - AOAH 0 genome.wustl.edu 37 7 36554094 36554095 + Frame_Shift_Del DEL CG CG - TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 CG CG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 7 36554094 36554095 CG - DEL AOAH ENST00000431169 human ensembl 69_37n -1 putative frame_shift_del c.1702_1701 p.C567fs 0.000:0.000 NULL pfam_Lipase_GDSL,pfam_SapB_2,superfamily_Saposin-like,superfamily_Esterase_SGNH_hydro-type,smart_SaposinB,pfscan_SaposinB - no_errors AOAH HGNC ENSG00000136250 134 0 0.00 119 50 29.07 - - - C1orf167 0 genome.wustl.edu 37 1 11826918 11826918 + RNA SNP C C A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 11826918 11826918 C A SNP C1orf167 ENST00000484153 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors C1orf167 HGNC ENSG00000215910 38 0 0.00 29 8 21.62 - - - CABYR 0 genome.wustl.edu 37 18 21739776 21739776 + Missense_Mutation SNP A A C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 18 21739776 21739776 A C SNP CABYR ENST00000399496 human ensembl 69_37n +1 known missense c.882 p.Q294H 1.000 NULL pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b - no_errors CABYR HGNC ENSG00000154040 98 0 0.00 63 27 30.00 - - - CCT7 0 genome.wustl.edu 37 2 73476273 73476273 + Missense_Mutation SNP G G C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 2 73476273 73476273 G C SNP CCT7 ENST00000258091 human ensembl 69_37n +1 known missense c.938 p.R313P 1.000 pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_eta pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_eta - no_errors CCT7 HGNC ENSG00000135624 73 0 0.00 60 33 35.48 - - - CFB 0 genome.wustl.edu 37 6 31916210 31916210 + Missense_Mutation SNP A A T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 6 31916210 31916210 A T SNP CFB ENST00000556679 human ensembl 69_37n +1 known missense c.2463 p.K821N 0.002 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Peptidase_S1_S6,pfam_VWF_A,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_VWF_A,smart_Peptidase_S1_S6,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors CFB HGNC ENSG00000243649 89 0 0.00 110 30 21.43 - - - CLCNKA 0 genome.wustl.edu 37 1 16350315 16350315 + Nonsense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 16350315 16350315 C T SNP CLCNKA ENST00000331433 human ensembl 69_37n +1 known nonsense c.121 p.Q41* 0.936 superfamily_Cl-channel_core pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K - no_errors CLCNKA HGNC ENSG00000186510 119 0 0.00 129 24 15.69 - - - CLSTN1 0 genome.wustl.edu 37 1 9801173 9801173 + Missense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 9801173 9801173 C T SNP CLSTN1 ENST00000377298 human ensembl 69_37n -1 known missense c.1498 p.V500M 1.000 superfamily_ConA-like_lec_gl pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CLSTN1 HGNC ENSG00000171603 66 0 0.00 41 30 42.25 - - - COL5A1 0 genome.wustl.edu 37 9 137710523 137710523 + Missense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 9 137710523 137710523 C T SNP COL5A1 ENST00000371817 human ensembl 69_37n +1 known missense c.4252 p.P1418S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL5A1 HGNC ENSG00000130635 73 0 0.00 72 13 15.29 - - - DGCR6 0 genome.wustl.edu 37 22 18899484 18899484 + RNA SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 22 18899484 18899484 G A SNP DGCR6 ENST00000436645 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors DGCR6 HGNC ENSG00000183628 8 0 0.00 7 6 46.15 - - - DST 0 genome.wustl.edu 37 6 56473029 56473029 + Missense_Mutation SNP T T A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 6 56473029 56473029 T A SNP DST ENST00000370754 human ensembl 69_37n -1 known missense c.6298 p.N2100Y 0.034 superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 27 0 0.00 46 9 16.36 - - - EEF1DP3 0 genome.wustl.edu 37 13 32527133 32527133 + RNA SNP T T C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 13 32527133 32527133 T C SNP EEF1DP3 ENST00000428783 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors EEF1DP3 HGNC ENSG00000229715 63 0 0.00 54 35 39.33 - - - EMX2 0 genome.wustl.edu 37 10 119307895 119307895 + RNA SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 10 119307895 119307895 G A SNP EMX2 ENST00000442245 human ensembl 69_37n +1 known rna NULL NULL 0.274 - - - no_errors EMX2 HGNC ENSG00000170370 45 0 0.00 34 11 24.44 - - - EPS15L1 0 genome.wustl.edu 37 19 16528437 16528437 + Silent SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 19 16528437 16528437 G A SNP EPS15L1 ENST00000455140 human ensembl 69_37n -1 known silent c.1119 p.G373 0.151 NULL superfamily_Prefoldin,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif - no_errors EPS15L1 HGNC ENSG00000127527 53 0 0.00 41 20 32.79 - - - ERBB2 0 genome.wustl.edu 37 17 37868208 37868208 + Missense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 17 37868208 37868208 C T SNP ERBB2 ENST00000269571 human ensembl 69_37n +1 known missense c.929 p.S310F 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB2 HGNC ENSG00000141736 88 0 0.00 74 148 66.67 - - - ERBB3 0 genome.wustl.edu 37 12 56481922 56481922 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 12 56481922 56481922 G A SNP ERBB3 ENST00000267101 human ensembl 69_37n +1 known missense c.850 p.G284R 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors ERBB3 HGNC ENSG00000065361 29 0 0.00 20 21 51.22 - - - FBRS 0 genome.wustl.edu 37 16 30678913 30678913 + Nonsense_Mutation SNP G G T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 16 30678913 30678913 G T SNP FBRS ENST00000356166 human ensembl 69_37n +1 known nonsense c.2044 p.G682* 1.000 NULL prints_AUTS2 - no_errors FBRS HGNC ENSG00000156860 74 0 0.00 65 23 26.14 - - - GPR137C 0 genome.wustl.edu 37 14 53098909 53098909 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 14 53098909 53098909 G A SNP GPR137C ENST00000321662 human ensembl 69_37n +1 known missense c.749 p.G250D 1.000 NULL NULL - no_errors GPR137C HGNC ENSG00000180998 61 0 0.00 63 22 25.88 - - - IFNA10 0 genome.wustl.edu 37 9 21206881 21206881 + Frame_Shift_Del DEL C C - TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 9 21206881 21206881 C - DEL IFNA10 ENST00000357374 human ensembl 69_37n -1 known frame_shift_del c.216 p.K73fs 0.624 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA10 HGNC ENSG00000186803 146 0 0.00 48 48 47.52 - - - KRT17P2 0 genome.wustl.edu 37 17 18333915 18333915 + RNA SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 17 18333915 18333915 C T SNP KRT17P2 ENST00000326333 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors KRT17P2 HGNC ENSG00000186831 50 0 0.00 21 4 16.00 - - - KRTAP15-1 0 genome.wustl.edu 37 21 31812899 31812899 + Missense_Mutation SNP G G T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 21 31812899 31812899 G T SNP KRTAP15-1 ENST00000334067 human ensembl 69_37n +1 known missense c.254 p.S85I 0.000 pfam_PMG pfam_PMG - no_errors KRTAP15-1 HGNC ENSG00000186970 71 0 0.00 55 20 26.67 - - - LDHD 0 genome.wustl.edu 37 16 75146546 75146546 + Missense_Mutation SNP C C A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 16 75146546 75146546 C A SNP LDHD ENST00000300051 human ensembl 69_37n -1 known missense c.1312 p.A438S 0.000 pfam_FAD-linked_oxidase_C,superfamily_FAD-linked_Oxase-like_C pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-linked_Oxase-like_C,superfamily_FAD-bd_2 - no_errors LDHD HGNC ENSG00000166816 53 0 0.00 60 22 26.83 - - - LRRC41 0 genome.wustl.edu 37 1 46751042 46751042 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 46751042 46751042 G A SNP LRRC41 ENST00000343304 human ensembl 69_37n -1 known missense c.1487 p.S496F 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC41 HGNC ENSG00000132128 58 0 0.00 38 20 34.48 - - - MAF 0 genome.wustl.edu 37 16 79632803 79632803 + Nonsense_Mutation SNP C C A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 16 79632803 79632803 C A SNP MAF ENST00000326043 human ensembl 69_37n -1 known nonsense c.997 p.E333* 1.000 pfam_bZIP_Maf,smart_bZIP,pfscan_bZIP pfam_bZIP_Maf,pfam_Maf_TF_N,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP - no_errors MAF HGNC ENSG00000178573 56 0 0.00 52 31 37.35 - - - MCF2L 0 genome.wustl.edu 37 13 113750783 113750783 + Nonsense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 13 113750783 113750783 C T SNP MCF2L ENST00000397017 human ensembl 69_37n +1 novel nonsense c.2230 p.R744* 0.034 pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_DH-domain,pfam_Spectrin_repeat,pfam_Pleckstrin_homology,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MCF2L HGNC ENSG00000126217 64 0 0.00 47 28 37.33 - - - MLLT4 0 genome.wustl.edu 37 6 168344142 168344143 + Frame_Shift_Del DEL CT CT - TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 6 168344142 168344143 CT - DEL MLLT4 ENST00000366806 human ensembl 69_37n +1 known frame_shift_del c.3205_3206 p.Q1071fs 0.999:1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_Ras-assoc,pfam_Dil_domain,pfam_PDZ,pfam_FHA_dom,superfamily_PDZ,superfamily_SMAD_FHA_domain,smart_Ras-assoc,smart_FHA_dom,smart_PDZ,pfscan_Dilute,pfscan_PDZ,pfscan_Ras-assoc - no_errors MLLT4 HGNC ENSG00000130396 49 0 0.00 44 27 36.99 - - - MRPL42 0 genome.wustl.edu 37 12 93894779 93894779 + RNA SNP A A T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 12 93894779 93894779 A T SNP MRPL42 ENST00000552938 human ensembl 69_37n +1 putative rna NULL NULL 0.045 - - - no_errors MRPL42 HGNC ENSG00000198015 16 0 0.00 26 6 18.75 - - - MUC4 0 genome.wustl.edu 37 3 195507242 195507242 + Missense_Mutation SNP C C A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 3 195507242 195507242 C A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11209 p.A3737S 0.018 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 76 0 0.00 78 9 10.34 - - - NEFM 0 genome.wustl.edu 37 8 24772014 24772014 + Silent SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 8 24772014 24772014 C T SNP NEFM ENST00000221166 human ensembl 69_37n +1 known silent c.708 p.S236 1.000 pfam_F pfam_F,pfam_Intermed_filament_DNA-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 47 0 0.00 41 16 28.07 - - - NEU4 0 genome.wustl.edu 37 2 242758079 242758079 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 2 242758079 242758079 G A SNP NEU4 ENST00000325935 human ensembl 69_37n +1 known missense c.1199 p.R400K 0.873 superfamily_Neuraminidase superfamily_Neuraminidase - no_errors NEU4 HGNC ENSG00000204099 64 0 0.00 59 24 28.92 - - - OR4D2 0 genome.wustl.edu 37 17 56247845 56247845 + Missense_Mutation SNP G G T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 17 56247845 56247845 G T SNP OR4D2 ENST00000545221 human ensembl 69_37n +1 known missense c.829 p.V277F 0.689 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 90 0 0.00 101 28 21.71 - - - ORM1 0 genome.wustl.edu 37 9 117085526 117085526 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 9 117085526 117085526 G A SNP ORM1 ENST00000259396 human ensembl 69_37n +1 known missense c.113 p.R38Q 0.001 superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like,pirsf_A1A_glycop,prints_A1A_glycop - no_errors ORM1 HGNC ENSG00000229314 54 0 0.00 72 8 10.00 - - - PBLD 0 genome.wustl.edu 37 10 70055968 70055968 + RNA DEL A A - TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 10 70055968 70055968 A - DEL PBLD ENST00000478192 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PBLD HGNC ENSG00000108187 14 0 0.00 12 3 20.00 - - - PDE10A 0 genome.wustl.edu 37 6 165848788 165848788 + Silent SNP G G T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 6 165848788 165848788 G T SNP PDE10A ENST00000539869 human ensembl 69_37n -1 known silent c.474 p.G158 1.000 pfam_GAF,smart_GAF pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE10A HGNC ENSG00000112541 50 0 0.00 34 4 10.53 - - - PDE1C 0 genome.wustl.edu 37 7 32209536 32209536 + Missense_Mutation SNP G G C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 7 32209536 32209536 G C SNP PDE1C ENST00000396193 human ensembl 69_37n -1 novel missense c.169 p.L57V 1.000 NULL pfam_PDEase_catalytic_dom,pfam_PDEase_N,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE1C HGNC ENSG00000154678 73 0 0.00 70 27 27.84 - - - PDE3A 0 genome.wustl.edu 37 12 20766424 20766424 + Silent SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 12 20766424 20766424 C T SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known silent c.1059 p.A353 0.034 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 52 0 0.00 58 18 23.68 - - - PREPL 0 genome.wustl.edu 37 2 44553850 44553850 + Splice_Site DEL C C - TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 2 44553850 44553850 C - DEL PREPL ENST00000260648 human ensembl 69_37n -1 known splice_site_del c.1746+1 e10+1 1.000 - - - no_errors PREPL HGNC ENSG00000138078 42 0 0.00 50 29 35.80 - - - PRG4 0 genome.wustl.edu 37 1 186277898 186277898 + Missense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 186277898 186277898 C T SNP PRG4 ENST00000445192 human ensembl 69_37n +1 known missense c.3047 p.A1016V 0.004 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 26 0 0.00 21 10 32.26 - - - PTCH1 0 genome.wustl.edu 37 9 98218572 98218572 + Missense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 9 98218572 98218572 C T SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known missense c.3292 p.V1098I 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 40 0 0.00 50 10 16.67 - - - SCYL1 0 genome.wustl.edu 37 11 65294577 65294577 + Nonsense_Mutation SNP G G T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 11 65294577 65294577 G T SNP SCYL1 ENST00000270176 human ensembl 69_37n +1 known nonsense c.838 p.E280* 1.000 superfamily_ARM-type_fold,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL1 HGNC ENSG00000142186 34 0 0.00 35 4 10.26 - - - SLC35E1 0 genome.wustl.edu 37 19 16678946 16678946 + Missense_Mutation SNP A A C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 19 16678946 16678946 A C SNP SLC35E1 ENST00000409648 human ensembl 69_37n -1 known missense c.527 p.V176G 1.000 pfam_DMT,pfam_UAA pfam_DUF250,pfam_DMT,pfam_UAA - no_errors SLC35E1 HGNC ENSG00000127526 34 0 0.00 37 23 38.33 - - - SLC38A5 0 genome.wustl.edu 37 X 48317085 48317085 + RNA SNP T T C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 X 48317085 48317085 T C SNP SLC38A5 ENST00000462359 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors SLC38A5 HGNC ENSG00000017483 40 0 0.00 48 6 11.11 - - - SLCO2B1 0 genome.wustl.edu 37 11 74880301 74880301 + Missense_Mutation SNP T T A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 11 74880301 74880301 T A SNP SLCO2B1 ENST00000289575 human ensembl 69_37n +1 known missense c.532 p.S178T 0.015 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 56 0 0.00 59 20 25.32 - - - SMARCA4 0 genome.wustl.edu 37 19 11152150 11152150 + Silent SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 19 11152150 11152150 G A SNP SMARCA4 ENST00000358026 human ensembl 69_37n +1 known silent c.4434 p.P1478 0.037 superfamily_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 105 0 0.00 111 28 20.14 - - - SOBP 0 genome.wustl.edu 37 6 107854723 107854723 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 6 107854723 107854723 G A SNP SOBP ENST00000317357 human ensembl 69_37n +1 known missense c.482 p.R161H 1.000 NULL NULL - no_errors SOBP HGNC ENSG00000112320 62 0 0.00 40 15 27.27 - - - SRP72 0 genome.wustl.edu 37 4 57355634 57355634 + Missense_Mutation SNP G G T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 4 57355634 57355634 G T SNP SRP72 ENST00000342756 human ensembl 69_37n +1 known missense c.1305 p.W435C 1.000 smart_TPR_repeat pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SRP72 HGNC ENSG00000174780 39 0 0.00 18 6 25.00 - - - STAG2 0 genome.wustl.edu 37 X 123200024 123200024 + Splice_Site SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 X 123200024 123200024 G A SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known splice_site c.2097-1 e20-1 1.000 - - - no_errors STAG2 HGNC ENSG00000101972 25 0 0 28 10 26.32 - - - STAG2 0 genome.wustl.edu 37 X 123200024 123200024 + Splice_Site SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 X 123200024 123200024 G A SNP STAG2 ENST00000218089 human ensembl 69_37n +1 known splice_site c.2097-1 e20-1 1.000 - - - no_errors STAG2 HGNC ENSG00000101972 25 0 0.00 28 10 26.32 - - - SUCO 0 genome.wustl.edu 37 1 172558484 172558485 + Frame_Shift_Del DEL AA AA - TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 172558484 172558485 AA - DEL SUCO ENST00000367723 human ensembl 69_37n +1 known frame_shift_del c.2699_2700 p.E900fs 0.917:0.756 NULL pfam_Sad1_UNC_C,superfamily_Galactose-bd-like - no_errors SUCO HGNC ENSG00000094975 41 0 0.00 37 9 19.57 - - - TP53 0 genome.wustl.edu 37 17 7578526 7578526 + Missense_Mutation SNP C C A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 17 7578526 7578526 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.404 p.C135F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 54 0 0.00 18 20 52.63 - - - VAV3 0 genome.wustl.edu 37 1 108226109 108226109 + Splice_Site SNP C C A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 108226109 108226109 C A SNP VAV3 ENST00000370056 human ensembl 69_37n -1 known splice_site c.1777+1 e19+1 1.000 - - - no_errors VAV3 HGNC ENSG00000134215 43 0 0.00 47 21 30.88 - - - VWF 0 genome.wustl.edu 37 12 6128145 6128145 + Missense_Mutation SNP G G A TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 12 6128145 6128145 G A SNP VWF ENST00000261405 human ensembl 69_37n -1 known missense c.4439 p.P1480L 0.432 pirsf_VWF pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 64 0 0.00 50 37 42.05 - - - WBP11P1 0 genome.wustl.edu 37 18 30091635 30091635 + RNA SNP T T C TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 18 30091635 30091635 T C SNP WBP11P1 ENST00000567636 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors WBP11P1 HGNC ENSG00000260389 11 0 0.00 6 4 40.00 - - - ZNF555 0 genome.wustl.edu 37 19 2853678 2853678 + Missense_Mutation SNP A A G TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 19 2853678 2853678 A G SNP ZNF555 ENST00000334241 human ensembl 69_37n +1 known missense c.1615 p.K539E 0.004 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 ZNF555 HGNC ENSG00000186300 42 0 0.00 41 19 31.67 - - - ZNF648 0 genome.wustl.edu 37 1 182026518 182026518 + Missense_Mutation SNP C C T TCGA-A2-A3XV-01A-21D-A23C-09 TCGA-A2-A3XV-10A-01D-A23C-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 3656ab22-aa31-4140-b50b-251546635874 9187b604-bc3a-4ed4-9bb2-912e9633ff05 1 182026518 182026518 C T SNP ZNF648 ENST00000339948 human ensembl 69_37n -1 known missense c.628 p.A210T 0.222 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 85 0 0.00 52 39 42.86 - - -