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 ABCB5 0 genome.wustl.edu 37 7 20691242 20691242 + Missense_Mutation SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 7 20691242 20691242 C G SNP ABCB5 ENST00000258738 human ensembl 69_37n +1 known missense c.197 p.P66R 1.000 pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB5 HGNC ENSG00000004846 202 0 0.00 110 26 19.12 - - - ADAM11 0 genome.wustl.edu 37 17 42856604 42856604 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 17 42856604 42856604 G A SNP ADAM11 ENST00000200557 human ensembl 69_37n +1 known missense c.2291 p.G764E 1.000 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,prints_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM11 HGNC ENSG00000073670 134 0 0.00 43 15 25.86 - - - AFG3L1P 0 genome.wustl.edu 37 16 90048205 90048205 + RNA SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 16 90048205 90048205 G A SNP AFG3L1P ENST00000388970 human ensembl 69_37n +1 known rna NULL NULL 0.957 - - - no_errors AFG3L1P HGNC ENSG00000223959 116 0 0.00 31 79 71.82 - - - AGAP1 0 genome.wustl.edu 37 2 236877203 236877203 + Nonsense_Mutation SNP G G T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 236877203 236877203 G T SNP AGAP1 ENST00000418654 human ensembl 69_37n +1 novel nonsense c.163 p.E55* 1.000 NULL pfam_ArfGAP,superfamily_ArfGAP,smart_ArfGAP,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region AGAP1 HGNC ENSG00000157985 70 0 0.00 10 26 70.27 - - - ALPP 0 genome.wustl.edu 37 2 233244985 233244985 + Missense_Mutation SNP G G C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 233244985 233244985 G C SNP ALPP ENST00000392027 human ensembl 69_37n +1 known missense c.747 p.R249S 0.005 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPP HGNC ENSG00000163283 101 0 0.00 68 12 15.00 - - - ALPPL2 0 genome.wustl.edu 37 2 233273066 233273066 + Missense_Mutation SNP G G C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 233273066 233273066 G C SNP ALPPL2 ENST00000295453 human ensembl 69_37n +1 known missense c.738 p.R246S 0.019 pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase - no_errors ALPPL2 HGNC ENSG00000163286 96 0 0.00 17 29 63.04 - - - AMBRA1 0 genome.wustl.edu 37 11 46563919 46563919 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 11 46563919 46563919 T G SNP AMBRA1 ENST00000458649 human ensembl 69_37n -1 known missense c.1648 p.T550P 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 80 0 0.00 35 17 32.69 - - - ARHGEF1 0 genome.wustl.edu 37 19 42396123 42396123 + Missense_Mutation SNP G G T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 19 42396123 42396123 G T SNP ARHGEF1 ENST00000337665 human ensembl 69_37n +1 known missense c.298 p.G100C 0.011 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF1 HGNC ENSG00000076928 40 0 0.00 19 12 38.71 - - - ARMCX5 0 genome.wustl.edu 37 X 101857506 101857506 + Missense_Mutation SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 101857506 101857506 C G SNP ARMCX5 ENST00000246174 human ensembl 69_37n +1 known missense c.437 p.T146S 0.000 NULL pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors ARMCX5 HGNC ENSG00000125962 204 0 0.00 107 38 26.03 - - - ASXL3 0 genome.wustl.edu 37 18 31319718 31319718 + Missense_Mutation SNP G G T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 18 31319718 31319718 G T SNP ASXL3 ENST00000269197 human ensembl 69_37n +1 known missense c.2350 p.D784Y 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 56 0 0.00 62 11 15.07 - - - AXIN1 0 genome.wustl.edu 37 16 396580 396580 + Missense_Mutation SNP A A G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 16 396580 396580 A G SNP AXIN1 ENST00000262320 human ensembl 69_37n -1 known missense c.446 p.I149T 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal pfam_DIX,pfam_Regulat_G_prot_signal,pfam_Axin_b-cat-bd,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_DIX,pfscan_DIX,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors AXIN1 HGNC ENSG00000103126 142 0 0.00 24 47 66.20 - - - BRCA1 0 genome.wustl.edu 37 17 41223256 41223256 + Splice_Site SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 17 41223256 41223256 C T SNP BRCA1 ENST00000471181 human ensembl 69_37n -1 known splice_site c.4739-1 e15-1 1.000 - - - no_errors BRCA1 HGNC ENSG00000012048 30 0 0.00 9 10 52.63 - - - C15orf55 0 genome.wustl.edu 37 15 34647278 34647278 + Silent SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 15 34647278 34647278 G A SNP C15orf55 ENST00000333756 human ensembl 69_37n +1 known silent c.1335 p.Q445 0.330 NULL NULL - no_errors C15orf55 HGNC ENSG00000184507 149 0 0.00 36 31 46.27 - - - CCDC150 0 genome.wustl.edu 37 2 197565833 197565833 + Missense_Mutation SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 197565833 197565833 C G SNP CCDC150 ENST00000389175 human ensembl 69_37n +1 known missense c.1624 p.L542V 0.708 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 195 0 0.00 79 40 33.61 - - - CCDC37 0 genome.wustl.edu 37 3 126139043 126139043 + Silent SNP C C A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 126139043 126139043 C A SNP CCDC37 ENST00000393425 human ensembl 69_37n +1 known silent c.1056 p.P352 0.000 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 22 0 0.00 13 4 23.53 - - - CCDC37 0 genome.wustl.edu 37 3 126139044 126139044 + Missense_Mutation SNP A A G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 126139044 126139044 A G SNP CCDC37 ENST00000393425 human ensembl 69_37n +1 known missense c.1057 p.S353G 0.006 NULL superfamily_SuperAg_toxin_C_Staph/Strep - no_errors CCDC37 HGNC ENSG00000163885 21 0 0.00 12 4 25.00 - - - CHD7 0 genome.wustl.edu 37 8 61765545 61765545 + Silent SNP G G C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 8 61765545 61765545 G C SNP CHD7 ENST00000307121 human ensembl 69_37n +1 known silent c.6261 p.L2087 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,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 148 0 0.00 89 13 12.75 - - - COL27A1 0 genome.wustl.edu 37 9 117027349 117027349 + Missense_Mutation SNP G G T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 9 117027349 117027349 G T SNP COL27A1 ENST00000356083 human ensembl 69_37n +1 known missense c.3298 p.V1100L 0.007 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 163 0 0.00 51 17 25.00 - - - COL27A1 0 genome.wustl.edu 37 9 117027350 117027350 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 9 117027350 117027350 T G SNP COL27A1 ENST00000356083 human ensembl 69_37n +1 known missense c.3299 p.V1100G 0.007 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL27A1 HGNC ENSG00000196739 164 0 0.00 51 18 26.09 - - - CRELD1 0 genome.wustl.edu 37 3 9976594 9976594 + Missense_Mutation SNP A A C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 9976594 9976594 A C SNP CRELD1 ENST00000326434 human ensembl 69_37n +1 known missense c.250 p.K84Q 1.000 pfam_DUF3456 pfam_DUF3456,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,smart_EGF-like,smart_Furin_repeat,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors CRELD1 HGNC ENSG00000163703 164 0 0.00 41 46 52.87 - - - CXorf59 0 genome.wustl.edu 37 X 36117974 36117974 + Missense_Mutation SNP A A G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 36117974 36117974 A G SNP CXorf59 ENST00000313548 human ensembl 69_37n +1 known missense c.830 p.D277G 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CXorf59 HGNC ENSG00000176034 265 0 0.00 57 35 38.04 - - - CYP2W1 0 genome.wustl.edu 37 7 1024915 1024915 + Missense_Mutation SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 7 1024915 1024915 C G SNP CYP2W1 ENST00000308919 human ensembl 69_37n +1 known missense c.601 p.L201V 0.515 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2W1 HGNC ENSG00000073067 62 0 0.00 35 9 20.00 - - - DDX50 0 genome.wustl.edu 37 10 70706250 70706250 + Missense_Mutation SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 10 70706250 70706250 C T SNP DDX50 ENST00000373585 human ensembl 69_37n +1 known missense c.2078 p.S693L 0.991 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 70 0 0.00 26 5 16.13 - - - DIDO1 0 genome.wustl.edu 37 20 61512736 61512736 + Silent SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 20 61512736 61512736 T G SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known silent c.4572 p.P1524 0.995 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 44 0 0.00 25 11 30.56 - - - EDC3 0 genome.wustl.edu 37 15 74948230 74948230 + Missense_Mutation SNP T T C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 15 74948230 74948230 T C SNP EDC3 ENST00000315127 human ensembl 69_37n -1 known missense c.664 p.I222V 1.000 pfam_FDF_dom pfam_YjeF_N,pfam_FDF_dom,superfamily_YjeF_N - no_errors EDC3 HGNC ENSG00000179151 228 0 0.00 100 99 49.75 - - - ELOVL3 0 genome.wustl.edu 37 10 103988761 103988761 + Missense_Mutation SNP G G C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 10 103988761 103988761 G C SNP ELOVL3 ENST00000370005 human ensembl 69_37n +1 known missense c.565 p.A189P 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL3 HGNC ENSG00000119915 140 0 0.00 57 22 27.85 - - - EPG5 0 genome.wustl.edu 37 18 43534805 43534805 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 18 43534805 43534805 G A SNP EPG5 ENST00000282041 human ensembl 69_37n -1 known missense c.563 p.S188F 0.703 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 89 0 0.00 63 51 44.74 - - - ESCO1 0 genome.wustl.edu 37 18 19153877 19153877 + Missense_Mutation SNP T T C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 18 19153877 19153877 T C SNP ESCO1 ENST00000269214 human ensembl 69_37n -1 known missense c.928 p.I310V 1.000 NULL NULL - no_errors ESCO1 HGNC ENSG00000141446 156 0 0.00 110 65 37.14 - - - ETNK1 0 genome.wustl.edu 37 12 22797179 22797179 + Missense_Mutation SNP A A G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 12 22797179 22797179 A G SNP ETNK1 ENST00000335148 human ensembl 69_37n +1 known missense c.718 p.T240A 0.000 NULL pfam_Choline/ethanolamine_kinase,superfamily_Kinase-like_dom - no_errors ETNK1 HGNC ENSG00000139163 252 0 0.00 449 88 16.39 - - - FAM122B 0 genome.wustl.edu 37 X 133906273 133906273 + Missense_Mutation SNP A A T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 133906273 133906273 A T SNP FAM122B ENST00000343004 human ensembl 69_37n -1 known missense c.697 p.S233T 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 68 0 0.00 53 13 19.70 - - - FAM71B 0 genome.wustl.edu 37 5 156590215 156590215 + Missense_Mutation SNP T T C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 5 156590215 156590215 T C SNP FAM71B ENST00000302938 human ensembl 69_37n -1 known missense c.1061 p.E354G 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 59 0 0.00 31 16 34.04 - - - FAT3 0 genome.wustl.edu 37 11 92532859 92532859 + Missense_Mutation SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 11 92532859 92532859 C G SNP FAT3 ENST00000298047 human ensembl 69_37n +1 known missense c.6680 p.P2227R 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,smart_EGF-like,smart_Laminin_G,smart_EGF-like_Ca-bd,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT3 HGNC ENSG00000165323 91 0 0.00 28 40 58.82 - - - FBXW4 0 genome.wustl.edu 37 10 103432723 103432724 + Frame_Shift_Del DEL CA CA - TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 10 103432723 103432724 CA - DEL FBXW4 ENST00000331272 human ensembl 69_37n -1 known frame_shift_del c.624_623 p.V208fs 1.000:1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FBXW4 HGNC ENSG00000107829 362 0 0.00 141 26 15.57 - - - FHL1 0 genome.wustl.edu 37 X 135288565 135288565 + Splice_Site SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 135288565 135288565 G A SNP FHL1 ENST00000345434 human ensembl 69_37n +1 known splice_site c.1-1 e1-1 1.000 - - - no_errors FHL1 HGNC ENSG00000022267 79 0 0.00 29 24 45.28 - - - FMR1NB 0 genome.wustl.edu 37 X 147088318 147088318 + Missense_Mutation SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 147088318 147088318 C T SNP FMR1NB ENST00000370467 human ensembl 69_37n +1 known missense c.494 p.S165L 0.000 superfamily_P_trefoil superfamily_P_trefoil - no_errors FMR1NB HGNC ENSG00000176988 314 0 0.00 111 132 53.88 - - - GCC2 0 genome.wustl.edu 37 2 109098250 109098253 + Frame_Shift_Del DEL AATT AATT - TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 AATT AATT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 109098250 109098253 AATT - DEL GCC2 ENST00000309863 human ensembl 69_37n +1 known frame_shift_del c.3158_3161 p.L1054fs 0.998:0.956:0.954:0.990 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 65 0 0.00 37 28 43.08 - - - GCM2 0 genome.wustl.edu 37 6 10874470 10874470 + Missense_Mutation SNP G G C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 6 10874470 10874470 G C SNP GCM2 ENST00000379491 human ensembl 69_37n -1 known missense c.1279 p.P427A 0.398 NULL pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif - no_errors GCM2 HGNC ENSG00000124827 100 0 0.00 68 54 43.90 - - - GPR156 0 genome.wustl.edu 37 3 119886036 119886036 + Missense_Mutation SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 119886036 119886036 C G SNP GPR156 ENST00000315843 human ensembl 69_37n -1 known missense c.2288 p.C763S 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B - no_errors GPR156 HGNC ENSG00000175697 72 0 0.00 41 18 30.51 - - - GPRASP1 0 genome.wustl.edu 37 X 101912281 101912281 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 101912281 101912281 G A SNP GPRASP1 ENST00000361600 human ensembl 69_37n +1 known missense c.3440 p.C1147Y 0.997 superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold - no_errors GPRASP1 HGNC ENSG00000198932 200 0 0.00 140 79 36.07 - - - GSPT1 0 genome.wustl.edu 37 16 12009404 12009404 + Silent SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 16 12009404 12009404 C T SNP GSPT1 ENST00000434724 human ensembl 69_37n -1 known silent c.174 p.R58 0.807 NULL pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_ProtSyn_GTP-bd - no_errors GSPT1 HGNC ENSG00000103342 10 0 0.00 6 7 53.85 - - - GSTZ1 0 genome.wustl.edu 37 14 77793827 77793827 + Missense_Mutation SNP T T A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 14 77793827 77793827 T A SNP GSTZ1 ENST00000216465 human ensembl 69_37n +1 known missense c.148 p.F50I 1.000 pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom - no_errors GSTZ1 HGNC ENSG00000100577 65 0 0.00 8 17 68.00 - - - HSPA12A 0 genome.wustl.edu 37 10 118439170 118439170 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 10 118439170 118439170 G A SNP HSPA12A ENST00000369209 human ensembl 69_37n -1 known missense c.1130 p.A377V 1.000 NULL NULL - no_errors HSPA12A HGNC ENSG00000165868 135 0 0.00 97 30 23.62 - - - IGKV2-24 0 genome.wustl.edu 37 2 89476024 89476024 + Missense_Mutation SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 89476024 89476024 C T SNP IGKV2-24 ENST00000484817 human ensembl 69_37n -1 known missense c.148 p.V50I 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGKV2-24 HGNC ENSG00000241294 238 0 0.00 104 61 36.97 - - - IL6ST 0 genome.wustl.edu 37 5 55256367 55256367 + Missense_Mutation SNP G G C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 5 55256367 55256367 G C SNP IL6ST ENST00000336909 human ensembl 69_37n -1 known missense c.836 p.S279C 0.763 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_IgC2-like_lig-bd,pfam_Fibronectin_type3,pfam_IL6_recept-bd,pfam_Growth/epo_recpt_lig-bind,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL6ST HGNC ENSG00000134352 202 0 0.00 73 31 29.52 - - - KIAA2026 0 genome.wustl.edu 37 9 5920327 5920327 + Missense_Mutation SNP A A T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 9 5920327 5920327 A T SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.5669 p.I1890N 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 146 0 0.00 116 21 15.33 - - - LCT 0 genome.wustl.edu 37 2 136558268 136558268 + Missense_Mutation SNP C C A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 136558268 136558268 C A SNP LCT ENST00000264162 human ensembl 69_37n -1 known missense c.4775 p.G1592V 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 97 0 0.00 45 25 35.71 - - - LGALSL 0 genome.wustl.edu 37 2 64683524 64683524 + Silent SNP T T A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 64683524 64683524 T A SNP LGALSL ENST00000238875 human ensembl 69_37n +1 novel silent c.300 p.S100 0.992 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors LGALSL HGNC ENSG00000119862 147 0 0.00 103 21 16.94 - - - LIMK1 0 genome.wustl.edu 37 7 73530288 73530288 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 7 73530288 73530288 G A SNP LIMK1 ENST00000336180 human ensembl 69_37n +1 known missense c.1567 p.G523S 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LIMK1 HGNC ENSG00000106683 56 0 0.00 24 13 35.14 - - - LMOD3 0 genome.wustl.edu 37 3 69167916 69167916 + Silent SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 69167916 69167916 C G SNP LMOD3 ENST00000420581 human ensembl 69_37n -1 known silent c.1590 p.V530 1.000 NULL pfam_Tropomodulin - no_errors LMOD3 HGNC ENSG00000163380 194 0 0.00 87 48 35.56 - - - LPHN3 0 genome.wustl.edu 37 4 62778445 62778445 + Missense_Mutation SNP A A T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 4 62778445 62778445 A T SNP LPHN3 ENST00000507625 human ensembl 69_37n +1 known missense c.2082 p.K694N 1.000 pfam_DUF3497 pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like - no_errors LPHN3 HGNC ENSG00000150471 355 0 0.00 66 97 59.51 - - - LXN 0 genome.wustl.edu 37 3 158387342 158387342 + Missense_Mutation SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 158387342 158387342 C T SNP LXN ENST00000264265 human ensembl 69_37n -1 known missense c.250 p.A84T 1.000 pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin pfam_Prot_inh_latexin,pirsf_Prot_inh_latexin - no_errors LXN HGNC ENSG00000079257 256 0 0.00 218 59 21.30 - - - LYNX1 0 genome.wustl.edu 37 8 143856611 143856611 + Silent SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 8 143856611 143856611 G A SNP LYNX1 ENST00000345173 human ensembl 69_37n -1 known silent c.325 p.L109 0.349 NULL pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LYNX1 HGNC ENSG00000180155 53 0 0.00 24 16 40.00 - - - LYPD5 0 genome.wustl.edu 37 19 44303921 44303921 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 19 44303921 44303921 T G SNP LYPD5 ENST00000377950 human ensembl 69_37n -1 known missense c.130 p.M44L 0.000 NULL pfam_LY6_UPAR - no_errors LYPD5 HGNC ENSG00000159871 98 0 0.00 42 12 22.22 - - - MAGEA12 0 genome.wustl.edu 37 X 151900151 151900151 + Missense_Mutation SNP G G T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 151900151 151900151 G T SNP MAGEA12 ENST00000357916 human ensembl 69_37n -1 known missense c.650 p.P217H 0.022 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA12 HGNC ENSG00000213401 317 0 0.00 125 103 45.18 - - - MSI1 0 genome.wustl.edu 37 12 120791150 120791150 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 12 120791150 120791150 T G SNP MSI1 ENST00000257552 human ensembl 69_37n -1 known missense c.685 p.S229R 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors MSI1 HGNC ENSG00000135097 122 0 0.00 28 32 53.33 - - - MX2 0 genome.wustl.edu 37 21 42749839 42749839 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 21 42749839 42749839 G A SNP MX2 ENST00000330714 human ensembl 69_37n +1 known missense c.373 p.G125R 1.000 pfam_Dynamin_GTPase,smart_Dynamin_GTPase,prints_Dynamin pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_CH-domain,smart_Dynamin_GTPase,smart_GED,prints_Dynamin - no_errors MX2 HGNC ENSG00000183486 69 0 0.00 26 19 42.22 - - - NAV3 0 genome.wustl.edu 37 12 78513062 78513062 + Missense_Mutation SNP T T A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 12 78513062 78513062 T A SNP NAV3 ENST00000397909 human ensembl 69_37n +1 known missense c.3086 p.L1029Q 0.880 NULL pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain - no_errors NAV3 HGNC ENSG00000067798 82 0 0.00 33 36 52.17 - - - NCOA3 0 genome.wustl.edu 37 20 46264187 46264187 + Missense_Mutation SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 20 46264187 46264187 C G SNP NCOA3 ENST00000371998 human ensembl 69_37n +1 known missense c.1234 p.P412A 1.000 pirsf_Nuclear_rcpt_coactivator pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_SRC-1,pfam_PAS_fold,superfamily_Nuc_rcpt_coact,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_HLH_DNA-bd - no_errors NCOA3 HGNC ENSG00000124151 49 0 0.00 35 5 12.50 - - - NDUFV1 0 genome.wustl.edu 37 11 67377047 67377047 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 11 67377047 67377047 G A SNP NDUFV1 ENST00000322776 human ensembl 69_37n +1 known missense c.451 p.A151T 0.999 pfam_NADH_UbQ_OxRdtase_51kDa_su,tigrfam_NADH-UbQ_OxRdtase_suF pfam_NADH_UbQ_OxRdtase_51kDa_su,pfam_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,pfam_Soluble_ligand-bd,smart_NADH-UbQ_OxRdtase_Fsu_4Fe4S-bd,tigrfam_NADH-UbQ_OxRdtase_suF - no_errors NDUFV1 HGNC ENSG00000167792 30 0 0.00 25 9 26.47 - - - NET1 0 genome.wustl.edu 37 10 5493833 5493833 + Missense_Mutation SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 10 5493833 5493833 C T SNP NET1 ENST00000355029 human ensembl 69_37n +1 known missense c.296 p.T99M 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors NET1 HGNC ENSG00000173848 226 0 0.00 170 30 15.00 - - - NXPH1 0 genome.wustl.edu 37 7 8791150 8791150 + Silent SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 7 8791150 8791150 C T SNP NXPH1 ENST00000405863 human ensembl 69_37n +1 known silent c.567 p.S189 1.000 pirsf_Neurexophilin pirsf_Neurexophilin - no_errors NXPH1 HGNC ENSG00000122584 81 0 0.00 50 17 25.37 - - - PAPD7 0 genome.wustl.edu 37 5 6755013 6755014 + Frame_Shift_Del DEL AC AC - TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 5 6755013 6755014 AC - DEL PAPD7 ENST00000230859 human ensembl 69_37n +1 known frame_shift_del c.1584_1585 p.T532fs 1.000:1.000 NULL pfam_PAP_assoc,pfam_Nucleotidyltransferase - no_errors PAPD7 HGNC ENSG00000112941 12 0 0.00 9 3 25.00 - - - PCDP1 0 genome.wustl.edu 37 2 120362809 120362809 + Silent SNP C C G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 120362809 120362809 C G SNP PCDP1 ENST00000413369 human ensembl 69_37n +1 known silent c.1077 p.L359 0.879 NULL NULL - no_errors AC069154.2 Clone_based_vega_gene ENSG00000163075 103 0 0.00 30 19 38.78 - - - PKHD1 0 genome.wustl.edu 37 6 51483961 51483961 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 6 51483961 51483961 T G SNP PKHD1 ENST00000371117 human ensembl 69_37n -1 known missense c.12143 p.Q4048P 0.998 NULL pfam_IPT_TIG_rcpt,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT_TIG_rcpt,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 49 0 0.00 58 12 17.14 - - - PWP1 0 genome.wustl.edu 37 12 108086667 108086667 + Silent SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 12 108086667 108086667 G A SNP PWP1 ENST00000412830 human ensembl 69_37n +1 known silent c.396 p.L132 0.984 superfamily_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 PWP1 HGNC ENSG00000136045 294 0 0.00 188 48 20.17 - - - PXDNL 0 genome.wustl.edu 37 8 52339306 52339306 + Missense_Mutation SNP A A T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 8 52339306 52339306 A T SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known missense c.1538 p.F513Y 0.554 pfam_Ig_I-set,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 188 0 0.00 168 56 25.00 - - - RAD23B 0 genome.wustl.edu 37 9 110086219 110086219 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 9 110086219 110086219 G A SNP RAD23B ENST00000358015 human ensembl 69_37n +1 known missense c.866 p.R289K 1.000 pfam_XPC-bd,superfamily_XPC-bd,smart_STI1_HS-bd,tigrfam_Rad23 pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23 - no_errors RAD23B HGNC ENSG00000119318 267 0 0.00 96 53 35.57 - - - RCOR3 0 genome.wustl.edu 37 1 211486914 211486914 + Missense_Mutation SNP A A T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 1 211486914 211486914 A T SNP RCOR3 ENST00000419091 human ensembl 69_37n +1 known missense c.1466 p.Q489L 1.000 NULL pfam_SANT/Myb,pfam_ELM2_dom,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_ELM2_dom - no_errors RCOR3 HGNC ENSG00000117625 231 0 0.00 114 34 22.97 - - - SAAL1 0 genome.wustl.edu 37 11 18124894 18124894 + Splice_Site SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 11 18124894 18124894 C T SNP SAAL1 ENST00000524803 human ensembl 69_37n -1 known splice_site c.136-1 e2-1 0.997 - - - no_errors SAAL1 HGNC ENSG00000166788 172 0 0.00 70 68 49.28 - - - SDHAP2 0 genome.wustl.edu 37 3 195391070 195391070 + RNA SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 195391070 195391070 C T SNP SDHAP2 ENST00000429897 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SDHAP2 HGNC ENSG00000215837 62 0 0.00 46 21 31.34 - - - SLC6A8 0 genome.wustl.edu 37 X 152959549 152959549 + RNA SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 152959549 152959549 C T SNP SLC6A8 ENST00000485324 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SLC6A8 HGNC ENSG00000130821 49 0 0.00 31 26 45.61 - - - SLC9A7 0 genome.wustl.edu 37 X 46539151 46539151 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d X 46539151 46539151 G A SNP SLC9A7 ENST00000328306 human ensembl 69_37n -1 known missense c.565 p.P189S 1.000 pfam_Cation/H_exchanger,prints_NaH_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 188 0 0.00 44 23 34.33 - - - SMTNL2 0 genome.wustl.edu 37 17 4496467 4496467 + Splice_Site SNP G G T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 17 4496467 4496467 G T SNP SMTNL2 ENST00000389313 human ensembl 69_37n +1 known splice_site c.730+1 e3+1 0.999 - - - no_errors SMTNL2 HGNC ENSG00000188176 21 0 0.00 14 6 30.00 - - - SPG11 0 genome.wustl.edu 37 15 44944117 44944117 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 15 44944117 44944117 G A SNP SPG11 ENST00000261866 human ensembl 69_37n -1 known missense c.1028 p.S343L 0.004 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 50 0 0.00 23 14 37.84 - - - STAG1 0 genome.wustl.edu 37 3 136096565 136096565 + Silent SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 136096565 136096565 C T SNP STAG1 ENST00000383202 human ensembl 69_37n -1 known silent c.2307 p.V769 1.000 superfamily_ARM-type_fold pfam_STAG,superfamily_ARM-type_fold - no_errors STAG1 HGNC ENSG00000118007 134 0 0.00 103 25 19.53 - - - SYT11 0 genome.wustl.edu 37 1 155850298 155850298 + Missense_Mutation SNP T T A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 1 155850298 155850298 T A SNP SYT11 ENST00000368324 human ensembl 69_37n +1 known missense c.869 p.I290N 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin - no_errors SYT11 HGNC ENSG00000132718 123 0 0.00 44 67 60.36 - - - TADA2B 0 genome.wustl.edu 37 4 7055893 7055893 + Silent SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 4 7055893 7055893 C T SNP TADA2B ENST00000310074 human ensembl 69_37n +1 known silent c.375 p.P125 0.115 pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 59 0 0.00 9 13 56.52 - - - TAS2R1 0 genome.wustl.edu 37 5 9629727 9629727 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 5 9629727 9629727 T G SNP TAS2R1 ENST00000382492 human ensembl 69_37n -1 known missense c.418 p.I140L 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R1 HGNC ENSG00000169777 38 0 0.00 70 14 16.67 - - - TCF20 0 genome.wustl.edu 37 22 42609210 42609210 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 22 42609210 42609210 G A SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.2102 p.S701F 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 87 0 0.00 45 18 28.12 - - - TNNT3 0 genome.wustl.edu 37 11 1950349 1950349 + Splice_Site SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 11 1950349 1950349 G A SNP TNNT3 ENST00000397301 human ensembl 69_37n +1 known splice_site c.116-1 e8-1 0.002 - - - no_errors TNNT3 HGNC ENSG00000130595 70 0 0.00 26 8 23.53 - - - TP53 0 genome.wustl.edu 37 17 7577559 7577559 + Missense_Mutation SNP G G C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 17 7577559 7577559 G C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.722 p.S241C 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 105 0 0.00 18 25 58.14 - - - TRPM2 0 genome.wustl.edu 37 21 45795833 45795833 + Missense_Mutation SNP G G A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 21 45795833 45795833 G A SNP TRPM2 ENST00000300482 human ensembl 69_37n +1 known missense c.889 p.V297M 0.996 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 204 0 0.00 68 24 26.09 - - - TRPM4 0 genome.wustl.edu 37 19 49692303 49692303 + Silent SNP C C A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 19 49692303 49692303 C A SNP TRPM4 ENST00000252826 human ensembl 69_37n +1 known silent c.1974 p.A658 0.751 NULL pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 41 0 0.00 15 8 33.33 - - - UBR7 0 genome.wustl.edu 37 14 93686633 93686633 + Nonstop_Mutation SNP T T C TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 14 93686633 93686633 T C SNP UBR7 ENST00000555329 human ensembl 69_37n +1 novel nonstop c.94 p.*32R 0.999 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UBR7 HGNC ENSG00000012963 62 0 0.00 20 19 48.72 - - - USH2A 0 genome.wustl.edu 37 1 215847863 215847863 + Missense_Mutation SNP A A T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 1 215847863 215847863 A T SNP USH2A ENST00000366943 human ensembl 69_37n -1 known missense c.13390 p.W4464R 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 184 0 0.00 95 19 16.67 - - - WDHD1 0 genome.wustl.edu 37 14 55408276 55408276 + Missense_Mutation SNP T T G TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 14 55408276 55408276 T G SNP WDHD1 ENST00000360586 human ensembl 69_37n -1 known missense c.3322 p.K1108Q 0.987 NULL pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDHD1 HGNC ENSG00000198554 562 0 0.00 114 171 60.00 - - - WDR37 0 genome.wustl.edu 37 10 1123883 1123883 + Silent SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 10 1123883 1123883 C T SNP WDR37 ENST00000263150 human ensembl 69_37n +1 known silent c.175 p.L59 0.998 NULL 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 WDR37 HGNC ENSG00000047056 167 0 0.00 103 50 32.26 - - - WISP2 0 genome.wustl.edu 37 20 43348649 43348649 + Missense_Mutation SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 20 43348649 43348649 C T SNP WISP2 ENST00000190983 human ensembl 69_37n +1 known missense c.172 p.R58W 0.987 pfam_IGFBP-like,smart_IGFBP-like pfam_IGFBP-like,pfam_VWF_C,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP2 HGNC ENSG00000064205 41 0 0.00 11 13 54.17 - - - ZNF318 0 genome.wustl.edu 37 6 43316157 43316157 + Missense_Mutation SNP T T A TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 6 43316157 43316157 T A SNP ZNF318 ENST00000361428 human ensembl 69_37n -1 known missense c.2977 p.S993C 0.963 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 355 0 0.00 195 171 46.72 - - - ZNF619 0 genome.wustl.edu 37 3 40528623 40528623 + Nonsense_Mutation SNP G G T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 3 40528623 40528623 G T SNP ZNF619 ENST00000447116 human ensembl 69_37n +1 known nonsense c.742 p.E248* 0.079 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 ZNF619 HGNC ENSG00000177873 53 0 0.00 37 12 24.49 - - - ZNF804A 0 genome.wustl.edu 37 2 185803357 185803357 + Silent SNP C C T TCGA-BH-A0WA-01A-11D-A10G-09 TCGA-BH-A0WA-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 4076f947-a1f0-4101-9a79-79828eb3bbe3 ad51aa61-d74c-430e-b8aa-1aae099e247d 2 185803357 185803357 C T SNP ZNF804A ENST00000302277 human ensembl 69_37n +1 known silent c.3234 p.S1078 0.809 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 149 0 0.00 92 50 35.21 - - -