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 ACCS 0 genome.wustl.edu 37 11 44097101 44097101 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 44097101 44097101 C T SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.515 p.S172L 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 tier1 - - 45 0 0.00 48 8 14.04 ACCS 0 genome.wustl.edu 37 11 44097110 44097110 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 44097110 44097110 C G SNP ACCS ENST00000263776 human ensembl 74_37 +1 known missense c.524 p.S175C 1.000 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 tier1 - - 44 0 0.00 52 8 13.33 ACTR2 0 genome.wustl.edu 37 2 65467072 65467072 + Silent SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 65467072 65467072 C G SNP ACTR2 ENST00000377982 human ensembl 74_37 +1 known silent c.135 p.T45 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTR2 HGNC ENSG00000138071 tier1 - - 69 0 0.00 68 9 11.69 ADAM33 0 genome.wustl.edu 37 20 3652088 3652088 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 20 3652088 3652088 A T SNP ADAM33 ENST00000356518 human ensembl 74_37 -1 known missense c.1961 p.L654Q 0.004 pfscan_EG-like_dom 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,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM33 HGNC ENSG00000149451 tier1 - - 54 0 0.00 38 4 9.52 ADAMTS9 0 genome.wustl.edu 37 3 64587823 64587823 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 64587823 64587823 C G SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.3814 p.V1272L 0.977 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 - - 33 0 0.00 16 6 27.27 AGBL1 0 genome.wustl.edu 37 15 86822975 86822975 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 86822975 86822975 C T SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.2043 p.Y681 1.000 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 tier1 - - 30 0 0.00 33 4 10.81 AHNAK 0 genome.wustl.edu 37 11 62293932 62293932 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 62293932 62293932 C G SNP AHNAK ENST00000378024 human ensembl 74_37 -1 known missense c.7957 p.G2653R 0.941 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK HGNC ENSG00000124942 tier1 - - 174 0 0.00 118 28 19.18 AKAP6 0 genome.wustl.edu 37 14 33291546 33291546 + Nonsense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 14 33291546 33291546 C A SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known nonsense c.4527 p.C1509* 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 46 0 0.00 19 9 32.14 AMPD1 0 genome.wustl.edu 37 1 115231339 115231339 + Missense_Mutation SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 115231339 115231339 A C SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.157 p.F53V 1.000 pirsf_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 76 0 0.00 37 9 19.57 ANKLE1 0 genome.wustl.edu 37 19 17394145 17394145 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 17394145 17394145 C G SNP ANKLE1 ENST00000394458 human ensembl 74_37 +1 known missense c.572 p.P191R 0.210 NULL pfam_Ankyrin_rpt,pfam_LEM_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_LEM/LEM-like_dom,superfamily_Lactate_DH/Glyco_Ohase_4_C,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_LEM_dom - no_errors ANKLE1 HGNC ENSG00000160117 tier1 - - 37 0 0.00 22 6 21.43 ANKRD62P1-PARP4P3 0 genome.wustl.edu 37 22 17151133 17151133 + RNA SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 22 17151133 17151133 C A SNP ANKRD62P1-PARP4P3 ENST00000456726 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ANKRD62P1-PARP4P3 HGNC ENSG00000189295 tier1 - - 48 0 0.00 34 19 35.85 ANO1 0 genome.wustl.edu 37 11 70007297 70007297 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 70007297 70007297 G A SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.1609 p.V537I 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 tier1 - - 18 0 0.00 27 6 18.18 APC 0 genome.wustl.edu 37 5 112178800 112178800 + Silent SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 112178800 112178800 A G SNP APC ENST00000257430 human ensembl 74_37 +1 known silent c.7509 p.G2503 0.091 pfam_APC_basic_dom pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_APC_dom,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 tier1 - - 34 0 0.00 11 16 59.26 ARAP3 0 genome.wustl.edu 37 5 141041788 141041788 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 141041788 141041788 G A SNP ARAP3 ENST00000239440 human ensembl 74_37 -1 known silent c.2835 p.G945 0.007 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 tier1 - - 22 0 0.00 21 4 16.00 ARSB 0 genome.wustl.edu 37 5 78135194 78135194 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 78135194 78135194 C T SNP ARSB ENST00000264914 human ensembl 74_37 -1 known missense c.1198 p.V400M 0.661 pfam_Sulfatase,superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSB HGNC ENSG00000113273 tier1 - - 47 0 0.00 34 4 10.53 ASXL1 0 genome.wustl.edu 37 20 30947592 30947592 + Nonsense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 20 30947592 30947592 C T SNP ASXL1 ENST00000306058 human ensembl 74_37 +1 known nonsense c.43 p.Q15* 0.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 43 0 0.00 63 4 5.97 ATXN2L 0 genome.wustl.edu 37 16 28844774 28844774 + Nonsense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 28844774 28844774 C G SNP ATXN2L ENST00000395547 human ensembl 74_37 +1 known nonsense c.1970 p.S657* 1.000 pfam_Ataxin-2_C pfam_LsmAD_domain,pfam_Ataxin-2_C,superfamily_LSM_dom - no_errors ATXN2L HGNC ENSG00000168488 tier1 - - 28 0 0.00 29 15 34.09 AVL9 0 genome.wustl.edu 37 7 32623449 32623449 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 32623449 32623449 C G SNP AVL9 ENST00000318709 human ensembl 74_37 +1 novel missense c.1877 p.S626C 1.000 NULL pfam_ABL9/DENND6_dom - no_errors AVL9 HGNC ENSG00000105778 tier1 - - 34 0 0.00 31 11 26.19 B4GALNT1 0 genome.wustl.edu 37 12 58022903 58022903 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 58022903 58022903 C T SNP B4GALNT1 ENST00000341156 human ensembl 74_37 -1 known missense c.739 p.A247T 0.363 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 tier1 - - 48 0 0.00 33 21 38.89 BIRC6 0 genome.wustl.edu 37 2 32693120 32693120 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 32693120 32693120 G C SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.5721 p.Q1907H 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 55 0 0.00 44 4 8.33 BRD1 0 genome.wustl.edu 37 22 50217191 50217191 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 22 50217191 50217191 G A SNP BRD1 ENST00000216267 human ensembl 74_37 -1 known missense c.775 p.R259C 1.000 superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,prints_Bromodomain,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors BRD1 HGNC ENSG00000100425 tier1 - - 27 0 0.00 18 7 28.00 BTG4 0 genome.wustl.edu 37 11 111365944 111365947 + Frame_Shift_Del DEL GTAA GTAA - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 GTAA GTAA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 111365944 111365947 GTAA - DEL BTG4 ENST00000356018 human ensembl 74_37 -1 known frame_shift_del c.606_603 p.Y202fs 0.000:0.000:0.000:0.000 NULL pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn - no_errors BTG4 HGNC ENSG00000137707 tier1 47 0 0.00 32 3 8.57 C12orf39 0 genome.wustl.edu 37 12 21690117 21690117 + RNA SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 21690117 21690117 A C SNP C12orf39 ENST00000537527 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors C12orf39 HGNC ENSG00000134548 tier1 - - 30 0 0.00 11 10 47.62 C19orf53 0 genome.wustl.edu 37 19 13888981 13888981 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 13888981 13888981 C T SNP C19orf53 ENST00000588234 human ensembl 74_37 +1 known missense c.269 p.A90V 0.010 NULL pfam_UPF0390 - no_errors C19orf53 HGNC ENSG00000104979 tier1 - - 50 0 0.00 46 4 8.00 C1orf74 0 genome.wustl.edu 37 1 209956263 209956263 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 209956263 209956263 C T SNP C1orf74 ENST00000294811 human ensembl 74_37 -1 known silent c.717 p.E239 0.225 NULL NULL - no_errors C1orf74 HGNC ENSG00000162757 tier1 - - 36 0 0.00 31 23 42.59 C6orf183 0 genome.wustl.edu 37 6 109575795 109575795 + RNA SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 109575795 109575795 G T SNP C6orf183 ENST00000453496 human ensembl 74_37 +1 known rna NULL NULL 0.919 - - - no_errors C6orf183 HGNC ENSG00000243587 tier1 - - 36 0 0.00 28 4 12.50 CACNA1E 0 genome.wustl.edu 37 1 181752856 181752856 + Silent SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 181752856 181752856 G C SNP CACNA1E ENST00000367573 human ensembl 74_37 +1 known silent c.5406 p.T1802 0.014 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 tier1 - - 89 0 0.00 108 7 6.09 CACNG5 0 genome.wustl.edu 37 17 64880731 64880731 + Missense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 64880731 64880731 T G SNP CACNG5 ENST00000169565 human ensembl 74_37 +1 known missense c.523 p.Y175D 1.000 pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu pfam_PMP22/EMP/MP20/Claudin,prints_VDCC_gsu,prints_VDCC_g5su - no_errors CACNG5 HGNC ENSG00000075429 tier1 - - 47 0 0.00 26 18 40.91 CADPS 0 genome.wustl.edu 37 3 62612225 62612225 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 62612225 62612225 T A SNP CADPS ENST00000490353 human ensembl 74_37 -1 novel missense c.1349 p.E450V 0.001 NULL NULL - no_errors CADPS HGNC ENSG00000163618 tier1 - - 41 0 0.00 24 11 30.56 CARTPT 0 genome.wustl.edu 37 5 71016354 71016354 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 71016354 71016354 G A SNP CARTPT ENST00000296777 human ensembl 74_37 +1 known missense c.263 p.C88Y 1.000 pfam_CART,superfamily_CART pfam_CART,superfamily_CART - no_errors CARTPT HGNC ENSG00000164326 tier1 - - 44 0 0.00 14 7 33.33 CCDC141 0 genome.wustl.edu 37 2 179825996 179825996 + Missense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 179825996 179825996 T G SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.741 p.Q247H 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 80 0 0.00 29 54 65.06 CCDC175 0 genome.wustl.edu 37 14 60004791 60004791 + Frame_Shift_Del DEL C C - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 14 60004791 60004791 C - DEL CCDC175 ENST00000281581 human ensembl 74_37 -1 known frame_shift_del c.1573 p.A525fs 0.000 NULL superfamily_Prefoldin - no_errors CCDC175 HGNC ENSG00000151838 tier1 58 0 0.00 48 7 12.73 CCDC79 0 genome.wustl.edu 37 16 66811230 66811230 + Frame_Shift_Del DEL A A - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 66811230 66811230 A - DEL CCDC79 ENST00000433154 human ensembl 74_37 -1 known frame_shift_del c.861 p.F287fs 0.844 superfamily_ARM-type_fold pfam_SANT/Myb,superfamily_ARM-type_fold,superfamily_Homeodomain-like,superfamily_Cytokine_IL1-like,smart_SANT/Myb - no_errors CCDC79 HGNC ENSG00000249961 tier1 48 0 0.00 32 8 20.00 CCKBR 0 genome.wustl.edu 37 11 6281230 6281230 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 6281230 6281230 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known silent c.72 p.P24 0.570 prints_Gastrin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 41 0 0.00 36 10 20.83 CD109 0 genome.wustl.edu 37 6 74497077 74497077 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 74497077 74497077 T C SNP CD109 ENST00000287097 human ensembl 74_37 +1 known missense c.2458 p.F820L 0.976 NULL pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors CD109 HGNC ENSG00000156535 tier1 - - 44 0 0.00 60 4 6.25 CD63 0 genome.wustl.edu 37 12 56119600 56119600 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 56119600 56119600 G T SNP CD63 ENST00000257857 human ensembl 74_37 -1 known silent c.648 p.V216 0.904 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD63 HGNC ENSG00000135404 tier1 - - 42 0 0.00 56 4 6.67 CD81 0 genome.wustl.edu 37 11 2418077 2418077 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 2418077 2418077 G T SNP CD81 ENST00000263645 human ensembl 74_37 +1 known missense c.692 p.R231L 1.000 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors CD81 HGNC ENSG00000110651 tier1 - - 63 0 0.00 24 30 55.56 CENPE 0 genome.wustl.edu 37 4 104080029 104080029 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 104080029 104080029 G T SNP CENPE ENST00000265148 human ensembl 74_37 -1 known silent c.2616 p.T872 0.040 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 tier1 - - 68 0 0.00 48 4 7.69 CHML 0 genome.wustl.edu 37 1 241797460 241797460 + Nonsense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 241797460 241797460 C A SNP CHML ENST00000366553 human ensembl 74_37 -1 known nonsense c.1609 p.E537* 0.791 pirsf_Rab_geranylTrfase_A_euk pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor - no_errors CHML HGNC ENSG00000203668 tier1 - - 54 0 0.00 75 4 5.06 CLRN1 0 genome.wustl.edu 37 3 150690475 150690475 + Missense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 150690475 150690475 T G SNP CLRN1 ENST00000328863 human ensembl 74_37 -1 known missense c.21 p.K7N 0.946 NULL NULL - no_errors CLRN1 HGNC ENSG00000163646 tier1 - - 27 0 0.00 21 5 19.23 CNTF 0 genome.wustl.edu 37 11 58391895 58391895 + Nonsense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 58391895 58391895 G A SNP CNTF ENST00000361987 human ensembl 74_37 +1 known nonsense c.503 p.W168* 1.000 pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core pfam_Ciliary_neurotrophic_fac_CNTF,superfamily_4_helix_cytokine-like_core - no_errors CNTF HGNC ENSG00000242689 tier1 - - 28 0 0.00 40 6 12.77 CNTN5 0 genome.wustl.edu 37 11 99931943 99931943 + Splice_Site SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 99931943 99931943 G T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known splice_site c.981-1 e8-1 1.000 - - - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 60 0 0.00 32 6 15.79 COL1A2 0 genome.wustl.edu 37 7 94054949 94054949 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 94054949 94054949 G T SNP COL1A2 ENST00000297268 human ensembl 74_37 +1 known missense c.2809 p.G937C 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 tier1 rs72659309 - 50 0 0.00 37 11 22.92 COL3A1 0 genome.wustl.edu 37 2 189859455 189859455 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 189859455 189859455 G T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.1353 p.E451D 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 tier1 - - 26 0 0.00 13 22 62.86 COL3A1 0 genome.wustl.edu 37 2 189859456 189859456 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 189859456 189859456 G T SNP COL3A1 ENST00000304636 human ensembl 74_37 +1 known missense c.1354 p.A452S 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL3A1 HGNC ENSG00000168542 tier1 - - 26 0 0.00 13 22 62.86 COPS5 0 genome.wustl.edu 37 8 67971526 67971526 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 67971526 67971526 C T SNP COPS5 ENST00000357849 human ensembl 74_37 -1 known missense c.298 p.V100M 1.000 pfam_JAB_MPN_dom,smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors COPS5 HGNC ENSG00000121022 tier1 - - 43 0 0.00 26 4 13.33 CPEB2 0 genome.wustl.edu 37 4 15063712 15063712 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 15063712 15063712 C T SNP CPEB2 ENST00000538197 human ensembl 74_37 +1 known missense c.2705 p.A902V 1.000 smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 tier1 - - 55 0 0.00 39 21 35.00 CPS1 0 genome.wustl.edu 37 2 211521345 211521345 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 211521345 211521345 G C SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known missense c.3673 p.A1225P 1.000 pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,pfscan_ATP-grasp,tigrfam_CarbamoylP_synth_lsu pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_CarbamoylP_synth_lsu_oligo,pfam_GATASE,pfam_CarbamoylP_synth_lsu_N,pfam_MGS-like_dom,pfam_ATP-grasp_carboxylate-amine,pfam_Dala_Dala_lig_C,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_dom,superfamily_MGS-like_dom,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 70 0 0.00 64 20 23.81 CPXM2 0 genome.wustl.edu 37 10 125516830 125516830 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 125516830 125516830 C T SNP CPXM2 ENST00000241305 human ensembl 74_37 -1 known missense c.1816 p.E606K 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors CPXM2 HGNC ENSG00000121898 tier1 - - 38 0 0.00 22 4 15.38 CROCC 0 genome.wustl.edu 37 1 17256962 17256962 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 17256962 17256962 A G SNP CROCC ENST00000375541 human ensembl 74_37 +1 known missense c.722 p.E241G 1.000 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CROCC HGNC ENSG00000058453 tier1 - - 110 0 0.00 127 23 15.23 CSE1L 0 genome.wustl.edu 37 20 47701869 47701869 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 20 47701869 47701869 C G SNP CSE1L ENST00000262982 human ensembl 74_37 +1 known missense c.1669 p.L557V 1.000 pfam_CAS_CSE1_C,superfamily_ARM-type_fold pfam_CAS_CSE1_C,pfam_Cse1,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors CSE1L HGNC ENSG00000124207 tier1 - - 34 0 0.00 29 5 14.71 CSMD2 0 genome.wustl.edu 37 1 34631391 34631391 + Frame_Shift_Del DEL G G - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 34631391 34631391 G - DEL CSMD2 ENST00000241312 human ensembl 74_37 -1 known frame_shift_del c.24 p.G9fs 0.021 NULL pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 tier1 56 0 0.00 38 2 5.00 CST2 0 genome.wustl.edu 37 20 23804666 23804666 + Silent SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 20 23804666 23804666 T C SNP CST2 ENST00000304725 human ensembl 74_37 -1 known silent c.417 p.Q139 0.000 smart_Prot_inh_cystat pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CST2 HGNC ENSG00000170369 tier1 - - 75 0 0.00 106 6 5.36 DCTN4 0 genome.wustl.edu 37 5 150095148 150095148 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 150095148 150095148 T C SNP DCTN4 ENST00000446090 human ensembl 74_37 -1 known missense c.1169 p.Q390R 1.000 pfam_Dynactin_p62 pfam_Dynactin_p62 - no_errors DCTN4 HGNC ENSG00000132912 tier1 - - 40 0 0.00 51 4 7.27 DCUN1D4 0 genome.wustl.edu 37 4 52777318 52777318 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 52777318 52777318 C T SNP DCUN1D4 ENST00000451288 human ensembl 74_37 +1 known missense c.830 p.P277L 1.000 pfam_PONY_dom pfam_PONY_dom - no_errors DCUN1D4 HGNC ENSG00000109184 tier1 - - 99 0 0.00 52 22 29.73 DDX42 0 genome.wustl.edu 37 17 61887894 61887894 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 61887894 61887894 C G SNP DDX42 ENST00000389924 human ensembl 74_37 +1 known missense c.1274 p.A425G 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,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 DDX42 HGNC ENSG00000198231 tier1 - - 46 0 0.00 27 16 37.21 DHRS4L1 0 genome.wustl.edu 37 14 24507011 24507011 + RNA SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 14 24507011 24507011 G T SNP DHRS4L1 ENST00000558682 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-468E2.9 Clone_based_vega_gene ENSG00000225766 tier1 - - 62 0 0.00 26 11 29.73 DMD 0 genome.wustl.edu 37 X 31187701 31187701 + Frame_Shift_Del DEL A A - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 X 31187701 31187701 A - DEL DMD ENST00000357033 human ensembl 74_37 -1 known frame_shift_del c.10412 p.L3471fs 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 39 0 0.00 68 10 12.82 DNAH6 0 genome.wustl.edu 37 2 84806758 84806758 + Silent SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 84806758 84806758 A T SNP DNAH6 ENST00000237449 human ensembl 74_37 +1 known silent c.2184 p.T728 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 tier1 - - 52 0 0.00 16 34 68.00 DNAJC15 0 genome.wustl.edu 37 13 43643083 43643083 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 13 43643083 43643083 A T SNP DNAJC15 ENST00000379221 human ensembl 74_37 +1 known missense c.178 p.I60F 0.964 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC15 HGNC ENSG00000120675 tier1 - - 40 0 0.00 51 7 12.07 DNAJC18 0 genome.wustl.edu 37 5 138778159 138778159 + RNA SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 138778159 138778159 G T SNP DNAJC18 ENST00000505268 human ensembl 74_37 -1 known rna NULL NULL 0.025 - - - no_errors DNAJC18 HGNC ENSG00000170464 tier1 - - 68 0 0.00 13 38 74.51 DNASE1 0 genome.wustl.edu 37 16 3706656 3706656 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 3706656 3706656 C T SNP DNASE1 ENST00000246949 human ensembl 74_37 +1 known missense c.338 p.A113V 0.071 pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I pirsf_DNase_I,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I,prints_DNase_I - no_errors DNASE1 HGNC ENSG00000213918 tier1 rs199986334 - 29 0 0.00 22 9 29.03 DOCK7 0 genome.wustl.edu 37 1 62971450 62971450 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 62971450 62971450 C A SNP DOCK7 ENST00000251157 human ensembl 74_37 -1 known missense c.4487 p.G1496V 1.000 superfamily_ARM-type_fold pfam_DOCK_C,pfam_DOCK_C/D_N,superfamily_ARM-type_fold - no_errors DOCK7 HGNC ENSG00000116641 tier1 - - 66 0 0.00 39 4 9.30 DPYS 0 genome.wustl.edu 37 8 105456530 105456530 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 105456530 105456530 C A SNP DPYS ENST00000351513 human ensembl 74_37 -1 known missense c.739 p.V247L 1.000 pfam_Amidohydro_1,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors DPYS HGNC ENSG00000147647 tier1 - - 47 0 0.00 75 8 9.64 DR1 0 genome.wustl.edu 37 1 93826185 93826185 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 93826185 93826185 G C SNP DR1 ENST00000370267 human ensembl 74_37 +1 known missense c.520 p.D174H 1.000 NULL pfam_CBFA_NFYB_domain,superfamily_Histone-fold,prints_Transcrpt_fac_NFYB/HAP3 - no_errors DR1 HGNC ENSG00000117505 tier1 - - 44 0 0.00 20 5 20.00 DST 0 genome.wustl.edu 37 6 56365903 56365903 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 56365903 56365903 A G SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.19778 p.I6593T 1.000 pfam_Spectrin_repeat,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 62 0 0.00 76 6 7.32 DTNA 0 genome.wustl.edu 37 18 32470619 32470619 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 18 32470619 32470619 G A SNP DTNA ENST00000592449 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DTNA HGNC ENSG00000134769 tier1 - - 53 0 0.00 30 24 44.44 EFCAB12 0 genome.wustl.edu 37 3 129134203 129134203 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 129134203 129134203 C T SNP EFCAB12 ENST00000326085 human ensembl 74_37 -1 known silent c.723 p.V241 0.510 NULL pfscan_EF_hand_dom - no_errors EFCAB12 HGNC ENSG00000172771 tier1 - - 48 0 0.00 24 17 41.46 EFR3A 0 genome.wustl.edu 37 8 133023251 133023251 + RNA SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 133023251 133023251 A G SNP EFR3A ENST00000521940 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 26 0 0.00 26 7 21.21 ELK3 0 genome.wustl.edu 37 12 96641176 96641176 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 96641176 96641176 C G SNP ELK3 ENST00000228741 human ensembl 74_37 +1 known missense c.666 p.I222M 1.000 NULL pfam_Ets_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ELK3 HGNC ENSG00000111145 tier1 - - 64 0 0.00 34 37 52.11 ELMO3 0 genome.wustl.edu 37 16 67233891 67233891 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 67233891 67233891 T C SNP ELMO3 ENST00000393997 human ensembl 74_37 +1 known missense c.389 p.L130P 1.000 NULL pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO3 HGNC ENSG00000102890 tier1 - - 75 0 0.00 55 4 6.78 EML4 0 genome.wustl.edu 37 2 42490326 42490326 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 42490326 42490326 G A SNP EML4 ENST00000318522 human ensembl 74_37 +1 known missense c.521 p.R174Q 0.997 NULL pfam_HELP,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EML4 HGNC ENSG00000143924 tier1 - - 56 0 0.00 36 5 12.20 ENSG00000212073 0 genome.wustl.edu 37 3 130830517 130830517 + RNA SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 130830517 130830517 A G SNP ENSG00000212073 ENST00000390784 human ensembl 74_37 -1 novel rna NULL NULL 0.088 - - - no_errors AC121332.1 Clone_based_ensembl_gene ENSG00000212073 tier1 - - 9 0 0.00 5 5 50.00 ENSG00000212857 0 genome.wustl.edu 37 GL000212.1 65516 65516 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 GL000212.1 65516 65516 C G SNP ENSG00000212857 ENST00000391545 human ensembl 74_37 +1 known missense c.1265 p.P422R NULL NULL NULL - no_errors AL356585.1 Clone_based_ensembl_gene ENSG00000212857 tier1 - - 93 0 0.00 110 14 11.29 ENSG00000223231 0 genome.wustl.edu 37 1 84259637 84259638 + RNA INS - - A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 84259637 84259638 - A INS ENSG00000223231 ENST00000411299 human ensembl 74_37 +1 novel rna NULL NULL 0.082:0.062 - - - no_errors AL035706.1 Clone_based_ensembl_gene ENSG00000223231 tier1 37 0 0.00 23 5 17.86 ENSG00000223759 0 genome.wustl.edu 37 1 149673265 149673265 + RNA SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 149673265 149673265 C G SNP ENSG00000223759 ENST00000443602 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-353N4.4 Clone_based_vega_gene ENSG00000223759 tier1 - - 19 0 0.00 5 3 33.33 ENSG00000224761 0 genome.wustl.edu 37 10 38501263 38501263 + RNA SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 38501263 38501263 T C SNP ENSG00000224761 ENST00000423162 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors RP11-508N22.8 Clone_based_vega_gene ENSG00000224761 tier1 - - 20 0 0.00 16 8 33.33 ENSG00000225241 0 genome.wustl.edu 37 1 144598750 144598750 + RNA SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 144598750 144598750 G T SNP ENSG00000225241 ENST00000419820 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 - - 56 0 0.00 48 4 7.69 ENSG00000228768 0 genome.wustl.edu 37 17 29898272 29898272 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 29898272 29898272 C T SNP ENSG00000228768 ENST00000412403 human ensembl 74_37 +1 putative silent c.108 p.H36 0.000 NULL NULL - no_errors AC003101.1 Clone_based_vega_gene ENSG00000228768 tier1 - - 57 0 0.00 37 4 9.76 ENSG00000267884 0 genome.wustl.edu 37 1 166028225 166028225 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 166028225 166028225 C T SNP ENSG00000267884 ENST00000595430 human ensembl 74_37 -1 known silent c.243 p.E81 0.347 NULL NULL - no_errors AL626787.1 Clone_based_ensembl_gene ENSG00000267884 tier1 - - 72 0 0.00 52 35 40.23 EPB41L4B 0 genome.wustl.edu 37 9 112017826 112017826 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 112017826 112017826 G A SNP EPB41L4B ENST00000374566 human ensembl 74_37 -1 known silent c.1134 p.S378 0.000 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4B HGNC ENSG00000095203 tier1 - - 38 0 0.00 65 4 5.80 ESPNP 0 genome.wustl.edu 37 1 17046464 17046464 + RNA SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 17046464 17046464 G C SNP ESPNP ENST00000492551 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors ESPNP HGNC ENSG00000268869 tier1 - - 202 0 0.00 183 13 6.60 EXO1 0 genome.wustl.edu 37 1 242016687 242016687 + Silent SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 242016687 242016687 A G SNP EXO1 ENST00000348581 human ensembl 74_37 +1 known silent c.309 p.G103 1.000 NULL pfam_XPG-I_dom,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG-I_dom,smart_HhH2,prints_XPG/Rad2 - no_errors EXO1 HGNC ENSG00000174371 tier1 - - 35 0 0.00 36 15 29.41 EXOSC2 0 genome.wustl.edu 37 9 133573186 133573186 + RNA DEL T T - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 133573186 133573186 T - DEL EXOSC2 ENST00000430138 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors EXOSC2 HGNC ENSG00000130713 tier1 16 0 0.00 14 2 12.50 F8 0 genome.wustl.edu 37 X 154227789 154227789 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 X 154227789 154227789 A T SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.230 p.L77H 0.172 superfamily_Cupredoxin pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 50 0 0.00 51 4 7.27 FAM132B 0 genome.wustl.edu 37 2 239071418 239071418 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 239071418 239071418 C T SNP FAM132B ENST00000546354 human ensembl 74_37 +1 putative silent c.363 p.G121 0.362 NULL superfamily_Tumour_necrosis_fac-like_dom - no_errors FAM132B HGNC ENSG00000178752 tier1 - - 36 0 0.00 51 14 20.90 FAM138D 0 genome.wustl.edu 37 12 147969 147969 + RNA DEL T T - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 147969 147969 T - DEL FAM138D ENST00000320165 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors FAM138D HGNC ENSG00000206114 tier1 8 0 0.00 4 5 55.56 FAM175B 0 genome.wustl.edu 37 10 126490414 126490414 + Missense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 126490414 126490414 T G SNP FAM175B ENST00000298492 human ensembl 74_37 +1 known missense c.16 p.S6A 1.000 prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 prints_FAM175_BRISC_cplx_Abro1_su,prints_FAM175 - no_errors FAM175B HGNC ENSG00000165660 tier1 - - 37 0 0.00 18 7 28.00 FAM196B 0 genome.wustl.edu 37 5 169291415 169291415 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 169291415 169291415 C T SNP FAM196B ENST00000377365 human ensembl 74_37 -1 known silent c.1470 p.L490 0.995 NULL NULL - no_errors FAM196B HGNC ENSG00000204767 tier1 - - 36 0 0.00 37 4 9.76 FAM65A 0 genome.wustl.edu 37 16 67574524 67574524 + Nonsense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 67574524 67574524 C T SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known nonsense c.778 p.R260* 1.000 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 tier1 - - 52 0 0.00 17 13 43.33 FBXO43 0 genome.wustl.edu 37 8 101149869 101149869 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 101149869 101149869 C T SNP FBXO43 ENST00000428847 human ensembl 74_37 -1 known missense c.1598 p.R533H 1.000 superfamily_F-box_dom pfam_Znf_C6HC,superfamily_F-box_dom,smart_Znf_C6HC - no_errors FBXO43 HGNC ENSG00000156509 tier1 - - 84 0 0.00 193 35 15.35 FDXACB1 0 genome.wustl.edu 37 11 111749828 111749828 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 111749828 111749828 C A SNP FDXACB1 ENST00000260257 human ensembl 74_37 -1 known missense c.29 p.G10V 1.000 pfam_DUF2431 pfam_DUF2431,pfam_PheS_beta_Fdx_antiC-bd,superfamily_PheS_beta_Fdx_antiC-bd,smart_PheS_beta_Fdx_antiC-bd - no_errors FDXACB1 HGNC ENSG00000255561 tier1 - - 94 0 0.00 56 17 23.29 FDXR 0 genome.wustl.edu 37 17 72862650 72862650 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 72862650 72862650 C T SNP FDXR ENST00000581530 human ensembl 74_37 -1 known missense c.311 p.R104H 1.000 pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD - no_errors FDXR HGNC ENSG00000161513 tier1 - - 31 0 0.00 15 15 50.00 FLG 0 genome.wustl.edu 37 1 152276167 152276167 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 152276167 152276167 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.11195 p.G3732A 0.002 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 165 0 0.00 82 73 47.10 FN1 0 genome.wustl.edu 37 2 216284107 216284107 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 216284107 216284107 G A SNP FN1 ENST00000354785 human ensembl 74_37 -1 known silent c.1677 p.D559 0.998 smart_Fibronectin_type1,pfscan_Fibronectin_type1 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 tier1 - - 51 0 0.00 51 4 7.27 GDI2 0 genome.wustl.edu 37 10 5810380 5810380 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 5810380 5810380 G A SNP GDI2 ENST00000479928 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GDI2 HGNC ENSG00000057608 tier1 - - 35 0 0.00 31 12 27.91 GMPR 0 genome.wustl.edu 37 6 16247147 16247147 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 16247147 16247147 C T SNP GMPR ENST00000259727 human ensembl 74_37 +1 known silent c.162 p.N54 1.000 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 pfam_IMP_DH_GMPRt,pirsf_GMP_reduct1,tigrfam_GMP_reduct1 - no_errors GMPR HGNC ENSG00000137198 tier1 - - 54 0 0.00 60 17 21.79 GOLGA8A 0 genome.wustl.edu 37 15 34679187 34679187 + Silent SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 34679187 34679187 C A SNP GOLGA8A ENST00000432566 human ensembl 74_37 -1 known silent c.54 p.G18 0.001 NULL NULL - no_errors GOLGA8A HGNC ENSG00000175265 tier1 - - 118 0 0.00 50 7 12.28 GOLGA8S 0 genome.wustl.edu 37 15 23608879 23608879 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 23608879 23608879 C T SNP GOLGA8S ENST00000562295 human ensembl 74_37 +1 novel missense c.1310 p.P437L 0.039 NULL NULL - no_errors GOLGA8S HGNC ENSG00000261739 tier1 - - 51 0 0.00 13 59 81.94 GOLGB1 0 genome.wustl.edu 37 3 121415546 121415546 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 121415546 121415546 G T SNP GOLGB1 ENST00000340645 human ensembl 74_37 -1 known missense c.3809 p.A1270D 0.067 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 tier1 - - 44 0 0.00 54 4 6.90 GON4L 0 genome.wustl.edu 37 1 155735241 155735241 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 155735241 155735241 C T SNP GON4L ENST00000368331 human ensembl 74_37 -1 known silent c.4023 p.E1341 0.025 NULL pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom - no_errors GON4L HGNC ENSG00000116580 tier1 - - 47 0 0.00 56 8 12.50 GPC5 0 genome.wustl.edu 37 13 92797095 92797095 + Nonsense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 13 92797095 92797095 A T SNP GPC5 ENST00000377067 human ensembl 74_37 +1 known nonsense c.1414 p.R472* 0.440 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 tier1 - - 79 0 0.00 51 39 43.33 GPHN 0 genome.wustl.edu 37 14 67346678 67346678 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 14 67346678 67346678 C T SNP GPHN ENST00000478722 human ensembl 74_37 +1 known missense c.316 p.R106W 1.000 pfam_Mopterin-bd_dom,superfamily_Mopterin-bd_dom,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis pfam_Mopterin-bd_dom,pfam_MoeA_linker/N,pfam_MoeA_C_domain_IV,superfamily_MoeA_linker/N,superfamily_Mopterin-bd_dom,superfamily_MoeA_C_domain_IV,smart_Mopterin-bd_dom,tigrfam_Mo_cofactor_synthesis - no_errors GPHN HGNC ENSG00000171723 tier1 - - 38 0 0.00 16 15 48.39 GPR149 0 genome.wustl.edu 37 3 154146552 154146552 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 154146552 154146552 C A SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.853 p.A285S 0.885 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 40 0 0.00 20 13 39.39 GPR149 0 genome.wustl.edu 37 3 154146553 154146553 + Silent SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 154146553 154146553 C A SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known silent c.852 p.G284 0.890 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 40 0 0.00 20 13 39.39 GPR149 0 genome.wustl.edu 37 3 154146554 154146554 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 154146554 154146554 C G SNP GPR149 ENST00000389740 human ensembl 74_37 -1 known missense c.851 p.G284A 0.048 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors GPR149 HGNC ENSG00000174948 tier1 - - 39 0 0.00 20 13 39.39 GTPBP4 0 genome.wustl.edu 37 10 1053056 1053056 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 1053056 1053056 G A SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known silent c.1101 p.R367 0.999 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 tier1 - - 56 0 0.00 55 18 24.66 HCN1 0 genome.wustl.edu 37 5 45262095 45262095 + Silent SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 45262095 45262095 A T SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known silent c.2601 p.L867 0.577 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 tier1 - - 70 0 0.00 43 72 62.61 HCN4 0 genome.wustl.edu 37 15 73635767 73635767 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 73635767 73635767 G A SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.1168 p.R390C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 31 0 0.00 19 5 20.83 HECTD2 0 genome.wustl.edu 37 10 93257887 93257887 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 93257887 93257887 A G SNP HECTD2 ENST00000446394 human ensembl 74_37 +1 known missense c.1715 p.E572G 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT - no_errors HECTD2 HGNC ENSG00000165338 tier1 - - 43 0 0.00 33 4 10.81 HECTD4 0 genome.wustl.edu 37 12 112717041 112717041 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 112717041 112717041 A G SNP HECTD4 ENST00000377560 human ensembl 74_37 -1 known missense c.1246 p.S416P 1.000 NULL pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl_sf,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 tier1 - - 57 0 0.00 54 9 14.29 HIST1H3D 0 genome.wustl.edu 37 6 26197330 26197330 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 26197330 26197330 C A SNP HIST1H3D ENST00000356476 human ensembl 74_37 -1 known missense c.149 p.R50L 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors HIST1H3D HGNC ENSG00000197409 tier1 - - 108 0 0.00 96 41 29.93 HNRNPR 0 genome.wustl.edu 37 1 23636558 23636558 + RNA SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 23636558 23636558 T C SNP HNRNPR ENST00000476660 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HNRNPR HGNC ENSG00000125944 tier1 - - 15 0 0.00 9 11 55.00 HS3ST4 0 genome.wustl.edu 37 16 26147420 26147420 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 26147420 26147420 T C SNP HS3ST4 ENST00000331351 human ensembl 74_37 +1 known missense c.1222 p.C408R 1.000 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST4 HGNC ENSG00000182601 tier1 - - 47 0 0.00 18 6 25.00 HSD17B7P2 0 genome.wustl.edu 37 10 38651199 38651199 + RNA SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 38651199 38651199 C A SNP HSD17B7P2 ENST00000494540 human ensembl 74_37 +1 known rna NULL NULL 0.970 - - - no_errors HSD17B7P2 HGNC ENSG00000099251 tier1 - - 120 0 0.00 52 59 53.15 HTATSF1 0 genome.wustl.edu 37 X 135585059 135585059 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 X 135585059 135585059 G C SNP HTATSF1 ENST00000218364 human ensembl 74_37 +1 known missense c.693 p.K231N 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors HTATSF1 HGNC ENSG00000102241 tier1 - - 59 0 0.00 86 5 5.49 HTR1A 0 genome.wustl.edu 37 5 63256806 63256806 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 63256806 63256806 G T SNP HTR1A ENST00000323865 human ensembl 74_37 -1 known silent c.741 p.A247 0.012 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT1A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt,prints_NPY_rcpt - no_errors HTR1A HGNC ENSG00000178394 tier1 - - 55 0 0.00 27 22 44.90 HTR2A 0 genome.wustl.edu 37 13 47466612 47466612 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 13 47466612 47466612 C T SNP HTR2A ENST00000378688 human ensembl 74_37 -1 known missense c.526 p.A176T 1.000 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_5HT2A_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 tier1 - - 50 0 0.00 67 5 6.94 HTT 0 genome.wustl.edu 37 4 3225799 3225799 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 3225799 3225799 C T SNP HTT ENST00000355072 human ensembl 74_37 +1 known missense c.7706 p.A2569V 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 tier1 - - 61 0 0.00 35 4 10.26 HYDIN 0 genome.wustl.edu 37 16 70902609 70902609 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 70902609 70902609 C T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11174 p.R3725Q 0.000 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 48 0 0.00 19 15 44.12 IARS 0 genome.wustl.edu 37 9 95004464 95004464 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 95004464 95004464 T C SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.3149 p.D1050G 0.998 NULL pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 tier1 - - 60 0 0.00 47 8 14.55 IFT140 0 genome.wustl.edu 37 16 1576005 1576005 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 1576005 1576005 C T SNP IFT140 ENST00000426508 human ensembl 74_37 -1 known missense c.2651 p.R884Q 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 tier1 rs150498538 - 60 0 0.00 53 5 8.62 IFT172 0 genome.wustl.edu 37 2 27669161 27669161 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 27669161 27669161 T C SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.4721 p.D1574G 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 44 0 0.00 30 23 43.40 IPPK 0 genome.wustl.edu 37 9 95400468 95400468 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 95400468 95400468 G T SNP IPPK ENST00000287996 human ensembl 74_37 -1 known missense c.731 p.S244Y 0.964 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 tier1 - - 55 0 0.00 49 4 7.55 IQCE 0 genome.wustl.edu 37 7 2623316 2623316 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 2623316 2623316 G T SNP IQCE ENST00000402050 human ensembl 74_37 +1 known silent c.747 p.R249 0.913 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCE HGNC ENSG00000106012 tier1 - - 33 0 0.00 41 20 32.79 ITGA4 0 genome.wustl.edu 37 2 182400231 182400231 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 182400231 182400231 A G SNP ITGA4 ENST00000397033 human ensembl 74_37 +1 known missense c.3076 p.N1026D 0.964 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 tier1 - - 37 0 0.00 43 4 8.51 ITGAL 0 genome.wustl.edu 37 16 30506164 30506164 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 30506164 30506164 G T SNP ITGAL ENST00000356798 human ensembl 74_37 +1 known missense c.1496 p.R499I 0.049 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGAL HGNC ENSG00000005844 tier1 - - 71 0 0.00 61 5 7.58 KAT6B 0 genome.wustl.edu 37 10 76729794 76729794 + Frame_Shift_Del DEL G G - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 76729794 76729794 G - DEL KAT6B ENST00000287239 human ensembl 74_37 +1 known frame_shift_del c.863 p.C288fs 1.000 pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger pfam_MOZ_SAS,pfam_Znf_PHD-finger,pfam_Histone_H1/H5_H15,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5_H15,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors KAT6B HGNC ENSG00000156650 tier1 72 0 0.00 39 9 18.75 KCNJ12 0 genome.wustl.edu 37 17 21319344 21319344 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 21319344 21319344 G A SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known silent c.690 p.A230 0.992 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 91 0 0.00 62 10 13.89 KCNK10 0 genome.wustl.edu 37 14 88693816 88693816 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 14 88693816 88693816 A T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.584 p.F195Y 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 tier1 - - 43 0 0.00 41 4 8.89 KIF15 0 genome.wustl.edu 37 3 44847376 44847376 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 44847376 44847376 G A SNP KIF15 ENST00000326047 human ensembl 74_37 +1 known silent c.1869 p.L623 0.996 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 tier1 - - 65 0 0.00 63 4 5.97 KMO 0 genome.wustl.edu 37 1 241695726 241695727 + RNA INS - - A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 241695726 241695727 - A INS KMO ENST00000477907 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors KMO HGNC ENSG00000117009 tier1 49 0 0.00 66 7 9.59 KRT7 0 genome.wustl.edu 37 12 52635270 52635270 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 52635270 52635270 G A SNP KRT7 ENST00000331817 human ensembl 74_37 +1 known silent c.708 p.L236 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,superfamily_Chorismate_mutase_type_II,prints_Keratin_II - no_errors KRT7 HGNC ENSG00000135480 tier1 - - 73 0 0.00 49 5 9.26 KRT80 0 genome.wustl.edu 37 12 52585450 52585450 + Silent SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 52585450 52585450 C A SNP KRT80 ENST00000394815 human ensembl 74_37 -1 known silent c.237 p.L79 1.000 NULL pfam_IF,prints_Keratin_II,prints_Keratin_I - no_errors KRT80 HGNC ENSG00000167767 tier1 - - 54 0 0.00 37 7 15.91 KRTAP21-3 0 genome.wustl.edu 37 21 32091050 32091050 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 21 32091050 32091050 C A SNP KRTAP21-3 ENST00000444335 human ensembl 74_37 -1 known missense c.28 p.G10W 0.091 NULL NULL - no_errors KRTAP21-3 HGNC ENSG00000231068 tier1 - - 40 0 0.00 31 9 22.50 KRTAP21-3 0 genome.wustl.edu 37 21 32091051 32091051 + Silent SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 21 32091051 32091051 A G SNP KRTAP21-3 ENST00000444335 human ensembl 74_37 -1 known silent c.27 p.C9 0.086 NULL NULL - no_errors KRTAP21-3 HGNC ENSG00000231068 tier1 - - 39 0 0.00 31 9 22.50 LAMB1 0 genome.wustl.edu 37 7 107642184 107642184 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 107642184 107642184 G A SNP LAMB1 ENST00000393561 human ensembl 74_37 -1 novel missense c.104 p.P35L 0.000 NULL pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 73 0 0.00 36 32 47.06 LAMC3 0 genome.wustl.edu 37 9 133967161 133967161 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 133967161 133967161 C T SNP LAMC3 ENST00000361069 human ensembl 74_37 +1 known missense c.4715 p.A1572V 1.000 NULL pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC3 HGNC ENSG00000050555 tier1 - - 91 0 0.00 98 19 16.24 LAMC3 0 genome.wustl.edu 37 9 133967312 133967313 + RNA INS - - CC TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 133967312 133967313 - CC INS LAMC3 ENST00000462567 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.000 - - - no_errors LAMC3 HGNC ENSG00000050555 tier1 29 0 0.00 41 3 6.82 LIG1 0 genome.wustl.edu 37 19 48647140 48647140 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 48647140 48647140 T A SNP LIG1 ENST00000263274 human ensembl 74_37 -1 known missense c.857 p.K286M 1.000 superfamily_DNA_ligase_ATP-dep_N pfam_DNA_ligase_ATP-dep_cent,pfam_DNA_ligase_ATP-dep_N,pfam_DNA_ligase_ATP-dep_C,superfamily_DNA_ligase_ATP-dep_N,superfamily_NA-bd_OB-fold,pfscan_DNA_ligase_ATP-dep_cent,tigrfam_DNA_ligase_ATP-dep - no_errors LIG1 HGNC ENSG00000105486 tier1 - - 55 0 0.00 48 4 7.69 LINC00466 0 genome.wustl.edu 37 1 63728322 63728322 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 63728322 63728322 G A SNP LINC00466 ENST00000436475 human ensembl 74_37 -1 known rna NULL NULL 0.977 - - - no_errors LINC00466 HGNC ENSG00000224209 tier1 - - 18 0 0.00 12 3 20.00 LMAN1L 0 genome.wustl.edu 37 15 75112434 75112434 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 75112434 75112434 C T SNP LMAN1L ENST00000309664 human ensembl 74_37 +1 known silent c.768 p.S256 0.069 superfamily_ConA-like_lec_gl_sf pfam_Lectin_leg,superfamily_ConA-like_lec_gl_sf - no_errors LMAN1L HGNC ENSG00000140506 tier1 - - 46 0 0.00 24 5 17.24 LMOD2 0 genome.wustl.edu 37 7 123296217 123296217 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 123296217 123296217 A G SNP LMOD2 ENST00000458573 human ensembl 74_37 +1 known missense c.200 p.E67G 1.000 pfam_Tropomodulin pfam_Tropomodulin,pfscan_WH2_dom - no_errors LMOD2 HGNC ENSG00000170807 tier1 - - 55 0 0.00 42 4 8.70 LOC101927345 0 genome.wustl.edu 37 1 143391573 143391573 + RNA SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 143391573 143391573 T A SNP LOC101927345 ENST00000412492 human ensembl 74_37 +1 known rna NULL NULL 0.967 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 - - 242 0 0.00 37 26 41.27 LOC101929372 0 genome.wustl.edu 37 22 18070659 18070659 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 22 18070659 18070659 G A SNP LOC101929372 ENST00000443935 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC004019.13 Clone_based_vega_gene ENSG00000236754 tier1 - - 47 0 0.00 10 39 79.59 LOC101929966 0 genome.wustl.edu 37 1 243254755 243254755 + RNA SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 243254755 243254755 C A SNP LOC101929966 ENST00000427210 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors RP11-261C10.3 Clone_based_vega_gene ENSG00000214837 tier1 - - 32 0 0.00 29 5 14.71 LOC399829 0 genome.wustl.edu 37 10 134788843 134788843 + RNA SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 134788843 134788843 G C SNP LOC399829 ENST00000461291 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP13-137A17.6 Clone_based_vega_gene ENSG00000240707 tier1 - - 41 0 0.00 31 4 11.43 LOXHD1 0 genome.wustl.edu 37 18 44102117 44102117 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 18 44102117 44102117 C T SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known missense c.5032 p.V1678M 0.994 superfamily_Lipase_LipOase pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 tier1 - - 30 0 0.00 22 12 35.29 LRBA 0 genome.wustl.edu 37 4 151935672 151935672 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 151935672 151935672 G A SNP LRBA ENST00000357115 human ensembl 74_37 -1 known silent c.123 p.I41 1.000 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom - no_errors LRBA HGNC ENSG00000198589 tier1 - - 27 0 0.00 22 9 29.03 LRRC8B 0 genome.wustl.edu 37 1 90050026 90050026 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 90050026 90050026 G A SNP LRRC8B ENST00000330947 human ensembl 74_37 +1 known missense c.1817 p.S606N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8B HGNC ENSG00000197147 tier1 - - 44 0 0.00 38 8 17.39 LRRIQ1 0 genome.wustl.edu 37 12 85450311 85450311 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 85450311 85450311 G A SNP LRRIQ1 ENST00000393217 human ensembl 74_37 +1 known silent c.1740 p.Q580 0.003 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 tier1 - - 30 0 0.00 20 3 13.04 MAGEA11 0 genome.wustl.edu 37 X 148797718 148797718 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 X 148797718 148797718 G T SNP MAGEA11 ENST00000355220 human ensembl 74_37 +1 known missense c.572 p.S191I 0.002 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA11 HGNC ENSG00000185247 tier1 - - 32 0 0.00 62 4 6.06 MAP2K6 0 genome.wustl.edu 37 17 67515468 67515468 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 67515468 67515468 A G SNP MAP2K6 ENST00000359094 human ensembl 74_37 +1 known missense c.199 p.S67G 0.200 NULL NULL - no_errors MAP2K6 HGNC ENSG00000108984 tier1 - - 67 0 0.00 48 4 7.69 MECOM 0 genome.wustl.edu 37 3 168833396 168833396 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 168833396 168833396 G A SNP MECOM ENST00000494292 human ensembl 74_37 -1 known missense c.2264 p.T755I 1.000 NULL pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors MECOM HGNC ENSG00000085276 tier1 - - 56 0 0.00 29 9 23.68 MFF 0 genome.wustl.edu 37 2 228205046 228205046 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 228205046 228205046 G T SNP MFF ENST00000353339 human ensembl 74_37 +1 known missense c.468 p.M156I 1.000 pfam_FATE/Miff/Tango-11 pfam_FATE/Miff/Tango-11 - no_errors MFF HGNC ENSG00000168958 tier1 - - 72 0 0.00 65 4 5.80 MIR606 0 genome.wustl.edu 37 10 77312217 77312217 + RNA SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 77312217 77312217 G T SNP MIR606 ENST00000384851 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors MIR606 HGNC ENSG00000207583 tier1 - - 62 0 0.00 28 24 46.15 MON2 0 genome.wustl.edu 37 12 62931429 62931429 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 62931429 62931429 G A SNP MON2 ENST00000393630 human ensembl 74_37 +1 known silent c.2061 p.A687 0.762 NULL pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 tier1 - - 40 0 0.00 15 7 31.82 MROH2B 0 genome.wustl.edu 37 5 41045948 41045948 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 41045948 41045948 T A SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.1736 p.K579I 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 tier1 - - 69 0 0.00 72 11 13.25 MRPS18B 0 genome.wustl.edu 37 6 30585679 30585679 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 30585679 30585679 C G SNP MRPS18B ENST00000259873 human ensembl 74_37 +1 known missense c.37 p.L13V 0.002 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 tier1 - - 29 0 0.00 26 52 66.67 MT-ND5 0 genome.wustl.edu 37 MT 12465 12466 + Frame_Shift_Ins INS - - T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 MT 12465 12466 - T INS MT-ND5 ENST00000361567 human ensembl 74_37 +1 known frame_shift_ins c.129_130 p.I44fs NULL tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 23 0 0.00 4 2 33.33 MT-ND5 0 genome.wustl.edu 37 MT 13813 13813 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 MT 13813 13813 G A SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1477 p.V493I NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 29 0 0.00 0 6 100.00 MT-TV 0 genome.wustl.edu 37 MT 1669 1669 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 MT 1669 1669 G A SNP MT-TV ENST00000387342 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-TV HGNC ENSG00000210077 tier1 - - 19 0 0.00 5 5 50.00 MTSS1L 0 genome.wustl.edu 37 16 70698625 70698625 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 70698625 70698625 C G SNP MTSS1L ENST00000338779 human ensembl 74_37 -1 known missense c.1347 p.M449I 1.000 NULL pfam_IRSp53/MIM_homology_IMD - no_errors MTSS1L HGNC ENSG00000132613 tier1 - - 39 0 0.00 15 7 31.82 MVB12B 0 genome.wustl.edu 37 9 129266969 129266969 + RNA SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 129266969 129266969 C G SNP MVB12B ENST00000485886 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors MVB12B HGNC ENSG00000196814 tier1 - - 85 0 0.00 83 11 11.70 MYBPC3 0 genome.wustl.edu 37 11 47372892 47372892 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 47372892 47372892 G T SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known missense c.190 p.H64N 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 48 0 0.00 55 4 6.78 MYH6 0 genome.wustl.edu 37 14 23869922 23869922 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 14 23869922 23869922 A T SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.1406 p.F469Y 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 43 0 0.00 24 7 22.58 MYO9B 0 genome.wustl.edu 37 19 17294679 17294680 + Splice_Site INS - - A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 17294679 17294680 - A INS MYO9B ENST00000594824 human ensembl 74_37 +1 known splice_site_ins c.2373+2_2373+1 e15+2 1.000:1.000 - - - no_errors MYO9B HGNC ENSG00000099331 tier1 47 0 0.00 28 3 9.68 NCAN 0 genome.wustl.edu 37 19 19338672 19338672 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 19338672 19338672 C T SNP NCAN ENST00000252575 human ensembl 74_37 +1 known missense c.2243 p.T748M 0.000 NULL pfam_Link,pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_Ig_V-set,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link,prints_AntifreezeII - no_errors NCAN HGNC ENSG00000130287 tier1 - - 38 0 0.00 14 9 39.13 NCAPG2 0 genome.wustl.edu 37 7 158483335 158483335 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 158483335 158483335 T A SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known missense c.462 p.K154N 0.988 superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 tier1 - - 68 0 0.00 60 4 6.25 NEO1 0 genome.wustl.edu 37 15 73547071 73547071 + Nonsense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 73547071 73547071 C T SNP NEO1 ENST00000261908 human ensembl 74_37 +1 known nonsense c.1993 p.Q665* 0.954 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors NEO1 HGNC ENSG00000067141 tier1 - - 59 0 0.00 37 4 9.76 NLRP2 0 genome.wustl.edu 37 19 55494867 55494867 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 55494867 55494867 G C SNP NLRP2 ENST00000448584 human ensembl 74_37 +1 known missense c.1801 p.D601H 0.001 NULL 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 NLRP2 HGNC ENSG00000022556 tier1 - - 60 0 0.00 55 7 11.29 NUP205 0 genome.wustl.edu 37 7 135279313 135279313 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 135279313 135279313 G A SNP NUP205 ENST00000285968 human ensembl 74_37 +1 known missense c.1849 p.A617T 1.000 pfam_Nup186/Nup192/Nup205 pfam_Nup186/Nup192/Nup205 - no_errors NUP205 HGNC ENSG00000155561 tier1 - - 47 0 0.00 53 4 7.02 OC90 0 genome.wustl.edu 37 8 133053334 133053334 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 133053334 133053334 T A SNP OC90 ENST00000443356 human ensembl 74_37 -1 known missense c.414 p.K138N 0.887 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors OC90 Uniprot_gn ENSG00000258417 tier1 - - 32 0 0.00 38 20 34.48 OR13C2 0 genome.wustl.edu 37 9 107367644 107367644 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 107367644 107367644 T C SNP OR13C2 ENST00000542196 human ensembl 74_37 -1 known missense c.265 p.R89G 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR13C2 HGNC ENSG00000257019 tier1 - - 47 0 0.00 41 14 25.45 OR1D2 0 genome.wustl.edu 37 17 2995688 2995688 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 2995688 2995688 G A SNP OR1D2 ENST00000331459 human ensembl 74_37 -1 known silent c.603 p.A201 0.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1D2 HGNC ENSG00000184166 tier1 - - 58 0 0.00 34 5 12.82 OR1G1 0 genome.wustl.edu 37 17 3030711 3030711 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 3030711 3030711 G A SNP OR1G1 ENST00000328890 human ensembl 74_37 -1 known silent c.135 p.I45 0.187 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1G1 HGNC ENSG00000183024 tier1 - - 35 0 0.00 22 13 37.14 OR2T34 0 genome.wustl.edu 37 1 248737683 248737683 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 248737683 248737683 C T SNP OR2T34 ENST00000328782 human ensembl 74_37 -1 known missense c.376 p.D126N 1.000 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_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T34 HGNC ENSG00000183310 tier1 - - 58 0 0.00 96 12 11.11 OR2T7 0 genome.wustl.edu 37 1 248604961 248604961 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 248604961 248604961 C G SNP OR2T7 ENST00000460972 human ensembl 74_37 +1 known missense c.454 p.P152A 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T7 HGNC ENSG00000227152 tier1 - - 47 0 0.00 45 17 27.42 OR5K3 0 genome.wustl.edu 37 3 98109982 98109982 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 98109982 98109982 T C SNP OR5K3 ENST00000383695 human ensembl 74_37 +1 known missense c.473 p.I158T 0.004 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5K3 HGNC ENSG00000206536 tier1 - - 39 0 0.00 16 21 56.76 PBRM1 0 genome.wustl.edu 37 3 52663017 52663017 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 52663017 52663017 C G SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known missense c.1336 p.D446H 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_Bromodomain,pfam_BAH_dom,pfam_HMG_box_dom,superfamily_Bromodomain,superfamily_HMG_box_dom,smart_Bromodomain,smart_BAH_dom,smart_HMG_box_dom,pfscan_BAH_dom,pfscan_HMG_box_dom,pfscan_Bromodomain,prints_Bromodomain - no_errors PBRM1 HGNC ENSG00000163939 tier1 - - 48 0 0.00 29 8 21.62 PBXIP1 0 genome.wustl.edu 37 1 154924334 154924334 + Nonsense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 154924334 154924334 G A SNP PBXIP1 ENST00000490230 human ensembl 74_37 -1 known nonsense c.115 p.Q39* 0.001 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 tier1 - - 46 0 0.00 51 4 7.27 PCDHA10 0 genome.wustl.edu 37 5 140237609 140237609 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 140237609 140237609 C T SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.1976 p.T659M 0.990 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 83 0 0.00 42 17 28.33 PCDHA8 0 genome.wustl.edu 37 5 140221555 140221555 + Frame_Shift_Del DEL G G - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 140221555 140221555 G - DEL PCDHA8 ENST00000531613 human ensembl 74_37 +1 known frame_shift_del c.649 p.G218fs 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA8 HGNC ENSG00000204962 tier1 15 0 0.00 7 23 76.67 PCDHGB7 0 genome.wustl.edu 37 5 140798971 140798971 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 140798971 140798971 C T SNP PCDHGB7 ENST00000398594 human ensembl 74_37 +1 known silent c.1545 p.F515 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB7 HGNC ENSG00000254122 tier1 - - 42 0 0.00 19 9 32.14 PDE4DIP 0 genome.wustl.edu 37 1 144852193 144852193 + RNA SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 144852193 144852193 C T SNP PDE4DIP ENST00000524974 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors PDE4DIP HGNC ENSG00000178104 tier1 - - 38 0 0.00 26 34 56.67 PHAX 0 genome.wustl.edu 37 5 125936740 125936740 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 125936740 125936740 T A SNP PHAX ENST00000297540 human ensembl 74_37 +1 known missense c.86 p.L29Q 0.747 NULL pfam_PHAX_RNA-binding_domain - no_errors PHAX HGNC ENSG00000164902 tier1 - - 41 0 0.00 23 4 14.81 PHF3 0 genome.wustl.edu 37 6 64421949 64421949 + Nonsense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 64421949 64421949 G T SNP PHF3 ENST00000262043 human ensembl 74_37 +1 known nonsense c.4465 p.E1489* 0.913 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 PHF3 HGNC ENSG00000118482 tier1 - - 27 0 0.00 7 22 75.86 PIAS4 0 genome.wustl.edu 37 19 4013274 4013274 + Silent SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 4013274 4013274 C G SNP PIAS4 ENST00000262971 human ensembl 74_37 +1 known silent c.381 p.L127 0.790 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS4 HGNC ENSG00000105229 tier1 - - 102 0 0.00 107 8 6.96 PIGS 0 genome.wustl.edu 37 17 26887182 26887182 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 26887182 26887182 T A SNP PIGS ENST00000308360 human ensembl 74_37 -1 known missense c.704 p.N235I 1.000 pfam_PtdIno-glycan_biosynth_class_S pfam_PtdIno-glycan_biosynth_class_S - no_errors PIGS HGNC ENSG00000087111 tier1 - - 22 0 0.00 15 17 53.12 PKHD1L1 0 genome.wustl.edu 37 8 110477101 110477101 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 110477101 110477101 G C SNP PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known missense c.8040 p.E2680D 1.000 smart_PbH1 pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 - - 32 0 0.00 56 23 29.11 PLCL2 0 genome.wustl.edu 37 3 17051594 17051594 + Nonsense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 17051594 17051594 T G SNP PLCL2 ENST00000418129 human ensembl 74_37 +1 known nonsense c.378 p.Y126* 1.000 smart_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL2 HGNC ENSG00000154822 tier1 - - 31 0 0.00 41 5 10.87 PLEC 0 genome.wustl.edu 37 8 144996861 144996863 + In_Frame_Del DEL CTC CTC - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 CTC CTC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 144996861 144996863 CTC - DEL PLEC ENST00000322810 human ensembl 74_37 -1 known in_frame_del c.7647_7645 p.E2549in_frame_del 1.000:1.000:1.000 NULL pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 38 0 0.00 7 7 50.00 PLEKHA8P1 0 genome.wustl.edu 37 12 45567893 45567893 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 45567893 45567893 G A SNP PLEKHA8P1 ENST00000256692 human ensembl 74_37 -1 known rna NULL NULL 0.824 - - - no_errors PLEKHA8P1 HGNC ENSG00000134297 tier1 - - 82 0 0.00 38 24 38.71 PLEKHS1 0 genome.wustl.edu 37 10 115540390 115540390 + Silent SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 115540390 115540390 A G SNP PLEKHS1 ENST00000369312 human ensembl 74_37 +1 known silent c.951 p.P317 0.985 NULL NULL - no_errors PLEKHS1 HGNC ENSG00000148735 tier1 - - 60 0 0.00 22 11 33.33 POSTN 0 genome.wustl.edu 37 13 38154738 38154738 + Nonsense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 13 38154738 38154738 T A SNP POSTN ENST00000379747 human ensembl 74_37 -1 known nonsense c.1489 p.K497* 1.000 superfamily_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_FAS1_domain pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pirsf_TGFb-ind_bIGH3/osteoblast_fac2,pfscan_EMI_domain,pfscan_FAS1_domain - no_errors POSTN HGNC ENSG00000133110 tier1 - - 95 0 0.00 105 27 20.30 PPM1F 0 genome.wustl.edu 37 22 22277676 22277676 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 22 22277676 22277676 C A SNP PPM1F ENST00000263212 human ensembl 74_37 -1 known missense c.1154 p.S385I 0.000 pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom pfam_PP2C-like_dom,superfamily_PP2C-like_dom,smart_PP2C-like_dom - no_errors PPM1F HGNC ENSG00000100034 tier1 - - 73 0 0.00 46 28 37.84 PPP2R3A 0 genome.wustl.edu 37 3 135742018 135742018 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 135742018 135742018 G A SNP PPP2R3A ENST00000334546 human ensembl 74_37 +1 known missense c.107 p.R36Q 1.000 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 tier1 - - 43 0 0.00 21 24 53.33 PRDM15 0 genome.wustl.edu 37 21 43259951 43259951 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 21 43259951 43259951 C A SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.1750 p.G584C 0.981 smart_Znf_C2H2-like pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 37 0 0.00 19 6 24.00 PREP 0 genome.wustl.edu 37 6 105825334 105825334 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 6 105825334 105825334 C T SNP PREP ENST00000369110 human ensembl 74_37 -1 known missense c.181 p.G61S 1.000 pfam_Pept_S9A_N pfam_Pept_S9A_N,pfam_Peptidase_S9,prints_Peptidase_S9A - no_errors PREP HGNC ENSG00000085377 tier1 - - 77 0 0.00 78 10 11.36 PRKG1 0 genome.wustl.edu 37 10 53822320 53822320 + Silent SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 53822320 53822320 A G SNP PRKG1 ENST00000373980 human ensembl 74_37 +1 known silent c.864 p.S288 1.000 pirsf_cGMP-dependent_protein_kinase,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pirsf_cGMP-dependent_protein_kinase,pfam_Prot_kinase_dom,pfam_cNMP-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,prints_cGMP_dep_kinase,prints_cAMP/cGMP_kin,pfscan_cNMP-bd_dom,pfscan_Prot_kinase_dom - no_errors PRKG1 HGNC ENSG00000185532 tier1 - - 66 0 0.00 68 13 16.05 PRPF3 0 genome.wustl.edu 37 1 150315759 150315759 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 150315759 150315759 G A SNP PRPF3 ENST00000493553 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors PRPF3 HGNC ENSG00000117360 tier1 - - 46 0 0.00 107 9 7.76 PRR24 0 genome.wustl.edu 37 19 47778599 47778599 + Silent SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 47778599 47778599 C A SNP PRR24 ENST00000552360 human ensembl 74_37 +1 known silent c.423 p.P141 0.058 NULL NULL - no_errors PRR24 HGNC ENSG00000257704 tier1 - - 26 0 0.00 28 4 12.50 PSMC4 0 genome.wustl.edu 37 19 40485723 40485723 + Splice_Site SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 40485723 40485723 G T SNP PSMC4 ENST00000157812 human ensembl 74_37 +1 known splice_site c.674-1 e7-1 1.000 - - - no_errors PSMC4 HGNC ENSG00000013275 tier1 - - 56 0 0.00 53 4 7.02 PTCH2 0 genome.wustl.edu 37 1 45292197 45292197 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 45292197 45292197 G A SNP PTCH2 ENST00000372192 human ensembl 74_37 -1 known missense c.2939 p.A980V 1.000 pfam_Patched,tigrfam_TM_rcpt_patched pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH2 HGNC ENSG00000117425 tier1 - - 40 0 0.00 22 10 31.25 PTDSS1 0 genome.wustl.edu 37 8 97316374 97316374 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 97316374 97316374 G C SNP PTDSS1 ENST00000517309 human ensembl 74_37 +1 known missense c.859 p.V287L 1.000 pfam_PSS pfam_PSS - no_errors PTDSS1 HGNC ENSG00000156471 tier1 - - 38 0 0.00 125 7 5.30 PTGES2 0 genome.wustl.edu 37 9 130887621 130887621 + Frame_Shift_Del DEL A A - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 130887621 130887621 A - DEL PTGES2 ENST00000338961 human ensembl 74_37 -1 known frame_shift_del c.379 p.Y127fs 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold - no_errors PTGES2 HGNC ENSG00000148334 tier1 55 0 0.00 17 2 10.53 PTPRJ 0 genome.wustl.edu 37 11 48157714 48157714 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 48157714 48157714 G A SNP PTPRJ ENST00000418331 human ensembl 74_37 +1 known missense c.1739 p.G580D 0.014 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRJ HGNC ENSG00000149177 tier1 - - 39 0 0.00 42 4 8.70 PYHIN1 0 genome.wustl.edu 37 1 158911856 158911856 + Silent SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 158911856 158911856 A C SNP PYHIN1 ENST00000368140 human ensembl 74_37 +1 known silent c.669 p.T223 0.001 pfam_HIN200/IF120x,pfscan_HIN200/IF120x pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x - no_errors PYHIN1 HGNC ENSG00000163564 tier1 - - 49 0 0.00 23 31 57.41 RACGAP1 0 genome.wustl.edu 37 12 50388107 50388107 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 50388107 50388107 G T SNP RACGAP1 ENST00000312377 human ensembl 74_37 -1 known silent c.1146 p.G382 0.805 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors RACGAP1 HGNC ENSG00000161800 tier1 - - 34 0 0.00 27 4 12.90 RAF1 0 genome.wustl.edu 37 3 12653482 12653482 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 12653482 12653482 C A SNP RAF1 ENST00000442415 human ensembl 74_37 -1 known missense c.287 p.C96F 1.000 pfam_Raf-like_ras-bd,smart_Raf-like_ras-bd,pfscan_Raf-like_ras-bd pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors RAF1 HGNC ENSG00000132155 tier1 - - 35 0 0.00 26 5 16.13 RGS14 0 genome.wustl.edu 37 5 176794472 176794472 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 176794472 176794472 C T SNP RGS14 ENST00000408923 human ensembl 74_37 +1 known missense c.541 p.R181C 1.000 pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS14 HGNC ENSG00000169220 tier1 - - 31 0 0.00 83 6 6.74 RGS2 0 genome.wustl.edu 37 1 192780357 192780357 + RNA SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 192780357 192780357 C T SNP RGS2 ENST00000464302 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RGS2 HGNC ENSG00000116741 tier1 - - 28 0 0.00 32 14 30.43 RNA28S5 0 genome.wustl.edu 37 GL000220.1 118152 118152 + RNA SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 GL000220.1 118152 118152 C A SNP RNA28S5 ENST00000607521 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors RNA28S5 HGNC ENSG00000266658 tier1 - - 83 0 0.00 24 7 22.58 RNF111 0 genome.wustl.edu 37 15 59344540 59344540 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 59344540 59344540 C G SNP RNF111 ENST00000434298 human ensembl 74_37 +1 known missense c.917 p.S306C 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF111 HGNC ENSG00000157450 tier1 - - 82 0 0.00 44 5 10.20 RNF19A 0 genome.wustl.edu 37 8 101276403 101276403 + Missense_Mutation SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 101276403 101276403 A C SNP RNF19A ENST00000341084 human ensembl 74_37 -1 known missense c.1327 p.L443V 1.000 NULL pfam_Znf_C6HC,smart_Znf_RING,smart_Znf_C6HC,pfscan_Znf_RING - no_errors RNF19A HGNC ENSG00000034677 tier1 - - 50 0 0.00 102 8 7.27 RNF213 0 genome.wustl.edu 37 17 78321682 78321682 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 78321682 78321682 T A SNP RNF213 ENST00000582970 human ensembl 74_37 +1 known missense c.9547 p.W3183R 0.397 superfamily_P-loop_NTPase superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF213 HGNC ENSG00000173821 tier1 - - 42 0 0.00 55 4 6.78 RNFT2 0 genome.wustl.edu 37 12 117289548 117289549 + Frame_Shift_Ins INS - - A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 117289548 117289549 - A INS RNFT2 ENST00000319176 human ensembl 74_37 +1 putative frame_shift_ins c.765_766 p.K259fs 0.004:0.003 NULL NULL - no_errors RNFT2 HGNC ENSG00000135119 tier1 18 0 0.00 7 5 41.67 RPP30 0 genome.wustl.edu 37 10 92638872 92638872 + Missense_Mutation SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 92638872 92638872 A C SNP RPP30 ENST00000413330 human ensembl 74_37 +1 known missense c.323 p.K108T 1.000 pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like pfam_RNase_P_p30,superfamily_Pol/histidinol_Pase-like - no_errors RPP30 HGNC ENSG00000148688 tier1 - - 98 0 0.00 51 15 22.73 RPS5 0 genome.wustl.edu 37 19 58904798 58904798 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 58904798 58904798 G A SNP RPS5 ENST00000196551 human ensembl 74_37 +1 known missense c.391 p.A131T 1.000 pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc pfam_Ribosomal_S7_dom,superfamily_Ribosomal_S7_dom,tigrfam_Ribosomal_S5/S7_euk/arc - no_errors RPS5 HGNC ENSG00000083845 tier1 - - 51 0 0.00 39 37 48.68 RTEL1 0 genome.wustl.edu 37 20 62322217 62322217 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 20 62322217 62322217 G A SNP RTEL1 ENST00000318100 human ensembl 74_37 +1 known missense c.2473 p.V825I 0.000 NULL pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 tier1 - - 66 0 0.00 70 10 12.50 RTN4RL1 0 genome.wustl.edu 37 17 1840653 1840653 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 1840653 1840653 A T SNP RTN4RL1 ENST00000331238 human ensembl 74_37 -1 known missense c.463 p.Y155N 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors RTN4RL1 HGNC ENSG00000185924 tier1 - - 35 0 0.00 5 27 84.38 SAP130 0 genome.wustl.edu 37 2 128699639 128699639 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 128699639 128699639 G T SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.3193 p.L1065I 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 - - 37 0 0.00 47 4 7.84 SATL1 0 genome.wustl.edu 37 X 84363284 84363284 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 X 84363284 84363284 G T SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.691 p.P231T 0.001 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 44 0 0.00 29 10 25.64 SEC61A1 0 genome.wustl.edu 37 3 127788844 127788844 + RNA SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 127788844 127788844 C T SNP SEC61A1 ENST00000483956 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors SEC61A1 HGNC ENSG00000058262 tier1 - - 42 0 0.00 18 11 37.93 SELE 0 genome.wustl.edu 37 1 169702096 169702096 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 169702096 169702096 G T SNP SELE ENST00000333360 human ensembl 74_37 -1 known silent c.81 p.S27 0.001 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Sushi_SCR_CCP,pfam_C-type_lectin,pfam_EG-like_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELE HGNC ENSG00000007908 tier1 - - 31 0 0.00 48 6 11.11 SEPHS1 0 genome.wustl.edu 37 10 13371703 13371703 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 13371703 13371703 C G SNP SEPHS1 ENST00000327347 human ensembl 74_37 -1 known missense c.646 p.D216H 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,pirsf_SelD,tigrfam_SelD pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_AIR_synth_C_dom,superfamily_PurM_N-like,pirsf_SelD,tigrfam_SelD - no_errors SEPHS1 HGNC ENSG00000086475 tier1 - - 44 0 0.00 41 6 12.77 SERTAD4-AS1 0 genome.wustl.edu 37 1 210407330 210407330 + RNA DEL T T - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 210407330 210407330 T - DEL SERTAD4-AS1 ENST00000437764 human ensembl 74_37 -1 known rna NULL NULL 0.837 - - - no_errors SERTAD4-AS1 HGNC ENSG00000203706 tier1 10 0 0.00 13 4 23.53 SETX 0 genome.wustl.edu 37 9 135205006 135205006 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 135205006 135205006 G T SNP SETX ENST00000372169 human ensembl 74_37 -1 known missense c.1979 p.A660E 0.000 NULL superfamily_P-loop_NTPase - no_errors SETX HGNC ENSG00000107290 tier1 - - 37 0 0.00 47 4 7.84 SEZ6L2 0 genome.wustl.edu 37 16 29899040 29899040 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 29899040 29899040 T A SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known missense c.1138 p.I380F 1.000 superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 - - 60 0 0.00 41 4 8.70 SFTPD 0 genome.wustl.edu 37 10 81701225 81701225 + Frame_Shift_Del DEL C C - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 81701225 81701225 C - DEL SFTPD ENST00000372292 human ensembl 74_37 -1 known frame_shift_del c.596 p.G199fs 0.996 pfam_Collagen pfam_C-type_lectin,pfam_Collagen,pfam_Surfac_D-trimer,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPD HGNC ENSG00000133661 tier1 50 0 0.00 39 3 7.14 SGSM1 0 genome.wustl.edu 37 22 25294486 25294486 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 22 25294486 25294486 A G SNP SGSM1 ENST00000400359 human ensembl 74_37 +1 known missense c.2735 p.N912S 0.289 superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Run,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Run,smart_Rab-GTPase-TBC_dom,pfscan_Run,pfscan_Rab-GTPase-TBC_dom - no_errors SGSM1 HGNC ENSG00000167037 tier1 - - 25 0 0.00 5 17 77.27 SHISA7 0 genome.wustl.edu 37 19 55951985 55951985 + Frame_Shift_Del DEL G G - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 55951985 55951985 G - DEL SHISA7 ENST00000376325 human ensembl 74_37 -1 known frame_shift_del c.819 p.N274fs 0.997 NULL NULL - no_errors SHISA7 HGNC ENSG00000187902 tier1 160 0 0.00 163 31 15.98 SLC35F3 0 genome.wustl.edu 37 1 234040847 234040847 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 234040847 234040847 C A SNP SLC35F3 ENST00000366618 human ensembl 74_37 +1 novel missense c.24 p.S8R 1.000 NULL pfam_DMT,pfam_Tpt_PEP_trans_dom,pfam_SLC35_F1/F2/F6 - no_errors SLC35F3 HGNC ENSG00000183780 tier1 - - 29 0 0.00 41 5 10.87 SLC43A2 0 genome.wustl.edu 37 17 1494657 1494657 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 1494657 1494657 C T SNP SLC43A2 ENST00000382147 human ensembl 74_37 -1 known missense c.837 p.M279I 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A2 HGNC ENSG00000167703 tier1 - - 61 0 0.00 31 22 41.51 SMG1 0 genome.wustl.edu 37 16 18937310 18937312 + In_Frame_Del DEL GCC GCC - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 GCC GCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 18937310 18937312 GCC - DEL SMG1 ENST00000389467 human ensembl 74_37 -1 known in_frame_del c.54_52 p.G18in_frame_del 1.000:1.000:1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors SMG1 HGNC ENSG00000157106 tier1 28 0 0.00 24 2 7.69 SMO 0 genome.wustl.edu 37 7 128850312 128850312 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 128850312 128850312 G T SNP SMO ENST00000249373 human ensembl 74_37 +1 known missense c.1575 p.M525I 1.000 pfam_Frizzled,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,pfam_GPCR_2_secretin-like,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors SMO HGNC ENSG00000128602 tier1 - - 50 0 0.00 19 14 42.42 SNORD11 0 genome.wustl.edu 37 2 203157846 203157846 + RNA SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 203157846 203157846 C G SNP SNORD11 ENST00000459124 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD11 HGNC ENSG00000238317 tier1 - - 34 0 0.00 29 18 37.50 SOHLH1 0 genome.wustl.edu 37 9 138589389 138589389 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 138589389 138589389 C G SNP SOHLH1 ENST00000425225 human ensembl 74_37 -1 known missense c.430 p.V144L 0.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SOHLH1 HGNC ENSG00000165643 tier1 - - 47 0 0.00 35 15 30.00 SOX11 0 genome.wustl.edu 37 2 5833176 5833176 + Missense_Mutation SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 5833176 5833176 A C SNP SOX11 ENST00000322002 human ensembl 74_37 +1 known missense c.323 p.K108T 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pirsf_SOX-12/11/4a,pfscan_HMG_box_dom - no_errors SOX11 HGNC ENSG00000176887 tier1 - - 42 0 0.00 32 8 20.00 SP4 0 genome.wustl.edu 37 7 21468977 21468977 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 21468977 21468977 A G SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.194 p.Q65R 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 tier1 - - 65 0 0.00 67 4 5.63 SPIN1 0 genome.wustl.edu 37 9 91090531 91090531 + RNA SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 91090531 91090531 T C SNP SPIN1 ENST00000469017 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPIN1 HGNC ENSG00000106723 tier1 - - 36 0 0.00 22 4 15.38 SRRM2 0 genome.wustl.edu 37 16 2816429 2816429 + Missense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 2816429 2816429 G T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.5900 p.R1967M 0.881 NULL pfam_mRNA_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 35 0 0.00 27 4 12.90 SSPO 0 genome.wustl.edu 37 7 149516491 149516491 + RNA SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 149516491 149516491 G A SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 18 0 0.00 8 11 57.89 SSPO 0 genome.wustl.edu 37 7 149525763 149525763 + RNA SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 149525763 149525763 C G SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.990 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 30 0 0.00 25 4 13.79 STX12 0 genome.wustl.edu 37 1 28138753 28138754 + Frame_Shift_Del DEL AG AG - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 28138753 28138754 AG - DEL STX12 ENST00000373943 human ensembl 74_37 +1 known frame_shift_del c.550_551 p.E185fs 1.000:1.000 pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX12 HGNC ENSG00000117758 tier1 22 0 0.00 24 7 22.58 SYCP1 0 genome.wustl.edu 37 1 115537601 115537601 + Frame_Shift_Del DEL A A - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 115537601 115537601 A - DEL SYCP1 ENST00000369518 human ensembl 74_37 +1 known frame_shift_del c.2892 p.K967fs 1.000 NULL pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 35 0 0.00 14 10 41.67 SYT4 0 genome.wustl.edu 37 18 40850584 40850584 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 18 40850584 40850584 C T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.1000 p.A334T 1.000 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 62 0 0.00 33 17 34.00 SYT4 0 genome.wustl.edu 37 18 40850585 40850585 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 18 40850585 40850585 A T SNP SYT4 ENST00000255224 human ensembl 74_37 -1 known missense c.999 p.H333Q 0.999 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin - no_errors SYT4 HGNC ENSG00000132872 tier1 - - 63 0 0.00 34 17 33.33 SYTL2 0 genome.wustl.edu 37 11 85438781 85438781 + Silent SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 85438781 85438781 T C SNP SYTL2 ENST00000359152 human ensembl 74_37 -1 known silent c.291 p.Q97 0.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYTL2 HGNC ENSG00000137501 tier1 - - 66 0 0.00 59 11 15.71 TBC1D10B 0 genome.wustl.edu 37 16 30370588 30370588 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 30370588 30370588 G C SNP TBC1D10B ENST00000409939 human ensembl 74_37 -1 known missense c.1547 p.P516R 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D10B HGNC ENSG00000169221 tier1 - - 45 0 0.00 19 11 36.67 TBC1D5 0 genome.wustl.edu 37 3 17447964 17447964 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 17447964 17447964 C T SNP TBC1D5 ENST00000253692 human ensembl 74_37 -1 known silent c.222 p.Q74 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D5 HGNC ENSG00000131374 tier1 - - 68 0 0.00 71 4 5.33 TBX15 0 genome.wustl.edu 37 1 119427568 119427568 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 119427568 119427568 C T SNP TBX15 ENST00000207157 human ensembl 74_37 -1 known silent c.1278 p.P426 0.934 NULL pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX15 HGNC ENSG00000092607 tier1 - - 17 0 0.00 6 4 40.00 TENM2 0 genome.wustl.edu 37 5 166712001 166712001 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 5 166712001 166712001 C T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known silent c.159 p.S53 1.000 pfam_Ten_N pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 tier1 - - 22 0 0.00 12 5 29.41 TESC 0 genome.wustl.edu 37 12 117484456 117484456 + Nonsense_Mutation SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 117484456 117484456 G T SNP TESC ENST00000470612 human ensembl 74_37 -1 known nonsense c.432 p.C144* 0.997 NULL pfscan_EF_hand_dom - no_errors TESC HGNC ENSG00000088992 tier1 - - 60 0 0.00 45 4 8.16 TET2 0 genome.wustl.edu 37 4 106157775 106157775 + Silent SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 106157775 106157775 A G SNP TET2 ENST00000380013 human ensembl 74_37 +1 known silent c.2676 p.Q892 0.429 NULL NULL - no_errors TET2 HGNC ENSG00000168769 tier1 - - 32 0 0.00 19 5 20.83 TEX15 0 genome.wustl.edu 37 8 30717534 30717534 + RNA SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 30717534 30717534 C T SNP TEX15 ENST00000523186 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TEX15 HGNC ENSG00000133863 tier1 - - 48 0 0.00 7 18 69.23 TGFBR3 0 genome.wustl.edu 37 1 92185688 92185688 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 92185688 92185688 C A SNP TGFBR3 ENST00000212355 human ensembl 74_37 -1 known missense c.1175 p.R392L 0.001 NULL pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors TGFBR3 HGNC ENSG00000069702 tier1 - - 21 0 0.00 8 6 42.86 TLR3 0 genome.wustl.edu 37 4 186997831 186997831 + Missense_Mutation SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 186997831 186997831 C A SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known missense c.58 p.L20M 0.000 NULL pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 tier1 - - 40 0 0.00 35 8 18.60 TMC6 0 genome.wustl.edu 37 17 76120698 76120700 + In_Frame_Del DEL CAG CAG - TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 76120698 76120700 CAG - DEL TMC6 ENST00000322914 human ensembl 74_37 -1 known in_frame_del c.798_796 p.L266in_frame_del 0.377:0.372:0.237 NULL pfam_TMC - no_errors TMC6 HGNC ENSG00000141524 tier1 14 0 0.00 10 4 28.57 TMEM132D 0 genome.wustl.edu 37 12 129822245 129822245 + Silent SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 12 129822245 129822245 A T SNP TMEM132D ENST00000422113 human ensembl 74_37 -1 known silent c.1233 p.S411 0.002 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 tier1 - - 28 0 0.00 17 14 45.16 TMEM218 0 genome.wustl.edu 37 11 124967413 124967413 + RNA SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 124967413 124967413 G C SNP TMEM218 ENST00000531262 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM218 HGNC ENSG00000150433 tier1 - - 17 0 0.00 14 4 22.22 TNFRSF10B 0 genome.wustl.edu 37 8 22886020 22886020 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 22886020 22886020 A T SNP TNFRSF10B ENST00000276431 human ensembl 74_37 -1 known missense c.572 p.V191D 0.000 pirsf_TNFR_10 pirsf_TNFR_10,pfam_Death_domain,pfam_TNFR/NGFR_Cys_rich_reg,superfamily_DEATH-like_dom,smart_TNFR/NGFR_Cys_rich_reg,smart_Death_domain,prints_TNFR_10,pfscan_Death_domain,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors TNFRSF10B HGNC ENSG00000120889 tier1 - - 34 0 0.00 5 32 69.57 TOP1 0 genome.wustl.edu 37 20 39750349 39750349 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 20 39750349 39750349 A T SNP TOP1 ENST00000361337 human ensembl 74_37 +1 known missense c.1964 p.K655M 1.000 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1 HGNC ENSG00000198900 tier1 - - 69 0 0.00 51 4 7.27 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 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 tier1 rs121912651 - 51 0 0.00 8 29 78.38 TRIM66 0 genome.wustl.edu 37 11 8646325 8646325 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 11 8646325 8646325 G T SNP TRIM66 ENST00000299550 human ensembl 74_37 -1 known silent c.2326 p.R776 0.001 NULL pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_B-box,smart_Znf_PHD,smart_Bbox_C,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors TRIM66 HGNC ENSG00000166436 tier1 - - 8 0 0.00 15 5 25.00 TSHZ3 0 genome.wustl.edu 37 19 31768323 31768323 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 31768323 31768323 C T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known silent c.2376 p.L792 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 46 0 0.00 36 17 32.08 TSNAX 0 genome.wustl.edu 37 1 231664450 231664450 + RNA SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 231664450 231664450 C G SNP TSNAX ENST00000602825 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TSNAX HGNC ENSG00000116918 tier1 - - 45 0 0.00 44 12 21.43 TSNAXIP1 0 genome.wustl.edu 37 16 67857617 67857617 + Missense_Mutation SNP T T C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 16 67857617 67857617 T C SNP TSNAXIP1 ENST00000388833 human ensembl 74_37 +1 known missense c.314 p.M105T 0.342 NULL NULL - no_errors TSNAXIP1 HGNC ENSG00000102904 tier1 - - 45 0 0.00 26 7 21.21 TTC28-AS1 0 genome.wustl.edu 37 22 28388879 28388879 + RNA SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 22 28388879 28388879 C G SNP TTC28-AS1 ENST00000428584 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TTC28-AS1 HGNC ENSG00000235954 tier1 - - 87 0 0.00 48 32 40.00 TTF1 0 genome.wustl.edu 37 9 135277918 135277918 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 135277918 135277918 G A SNP TTF1 ENST00000334270 human ensembl 74_37 -1 known silent c.291 p.D97 0.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors TTF1 HGNC ENSG00000125482 tier1 - - 43 0 0.00 35 10 22.22 TTN 0 genome.wustl.edu 37 2 179427214 179427214 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 179427214 179427214 A G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.75941 p.I25314T 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 tier1 - - 80 0 0.00 81 10 10.99 TTN 0 genome.wustl.edu 37 2 179535885 179535885 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 179535885 179535885 G A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.31337 p.S10446F 0.540 superfamily_Calpain_domain_III,superfamily_RNaseH-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 tier1 - - 85 0 0.00 62 13 16.88 TTN 0 genome.wustl.edu 37 2 179549103 179549103 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 179549103 179549103 T A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.28944 p.K9648N 1.000 pfam_PPAK_motif,superfamily_Calpain_domain_III,superfamily_RNaseH-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 tier1 - - 51 0 0.00 74 12 13.95 TUBA3FP 0 genome.wustl.edu 37 22 21368380 21368380 + RNA SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 22 21368380 21368380 G T SNP TUBA3FP ENST00000292748 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TUBA3FP HGNC ENSG00000161149 tier1 - - 70 0 0.00 61 4 6.15 TUBGCP2 0 genome.wustl.edu 37 10 135097440 135097440 + Missense_Mutation SNP C C G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 10 135097440 135097440 C G SNP TUBGCP2 ENST00000543663 human ensembl 74_37 -1 known missense c.2175 p.M725I 1.000 pfam_TUBGCP pfam_TUBGCP,superfamily_Ocr - no_errors TUBGCP2 HGNC ENSG00000130640 tier1 - - 68 0 0.00 26 22 45.83 TXK 0 genome.wustl.edu 37 4 48114415 48114415 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 4 48114415 48114415 C T SNP TXK ENST00000264316 human ensembl 74_37 -1 known missense c.289 p.E97K 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors TXK HGNC ENSG00000074966 tier1 - - 56 0 0.00 35 4 10.26 UBE2NL 0 genome.wustl.edu 37 X 142967287 142967287 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 X 142967287 142967287 G A SNP UBE2NL ENST00000370494 human ensembl 74_37 +1 known missense c.85 p.E29K 1.000 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2 - no_errors UBE2NL HGNC ENSG00000102069 tier1 - - 38 0 0.00 22 18 45.00 UBR3 0 genome.wustl.edu 37 2 170735085 170735085 + Splice_Site SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 170735085 170735085 G T SNP UBR3 ENST00000272793 human ensembl 74_37 +1 known splice_site c.1038+1 e5+1 1.000 - - - no_errors UBR3 HGNC ENSG00000144357 tier1 - - 81 0 0.00 86 6 6.52 USP3 0 genome.wustl.edu 37 15 63866317 63866317 + Nonsense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 15 63866317 63866317 T A SNP USP3 ENST00000380324 human ensembl 74_37 +1 known nonsense c.981 p.C327* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP3 HGNC ENSG00000140455 tier1 - - 62 0 0.00 41 4 8.89 VPS72 0 genome.wustl.edu 37 1 151156882 151156882 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 151156882 151156882 C T SNP VPS72 ENST00000368892 human ensembl 74_37 -1 known missense c.473 p.R158Q 0.988 pfam_YL1 pfam_YL1,pfam_YL1_C - no_errors VPS72 HGNC ENSG00000163159 tier1 - - 45 0 0.00 44 29 39.19 VSTM2A 0 genome.wustl.edu 37 7 54617688 54617688 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 54617688 54617688 T A SNP VSTM2A ENST00000402026 human ensembl 74_37 +1 known missense c.456 p.H152Q 0.180 NULL pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors VSTM2A HGNC ENSG00000170419 tier1 - - 56 0 0.00 71 11 13.41 WDPCP 0 genome.wustl.edu 37 2 63631537 63631537 + Missense_Mutation SNP G G C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 63631537 63631537 G C SNP WDPCP ENST00000272321 human ensembl 74_37 -1 known missense c.1081 p.L361V 0.046 pfam_DUF3312,superfamily_WD40_repeat_dom pfam_DUF3312,superfamily_WD40_repeat_dom - no_errors WDPCP HGNC ENSG00000143951 tier1 - - 53 0 0.00 32 9 21.95 WDR31 0 genome.wustl.edu 37 9 116082779 116082779 + Splice_Site SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 9 116082779 116082779 C A SNP WDR31 ENST00000374193 human ensembl 74_37 -1 known splice_site c.639-1 e7-1 1.000 - - - no_errors WDR31 HGNC ENSG00000148225 tier1 - - 50 0 0.00 21 13 38.24 WDR92 0 genome.wustl.edu 37 2 68384441 68384441 + Silent SNP G G T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 2 68384441 68384441 G T SNP WDR92 ENST00000295121 human ensembl 74_37 -1 known silent c.135 p.V45 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR92 HGNC ENSG00000243667 tier1 - - 48 0 0.00 39 5 11.36 WDTC1 0 genome.wustl.edu 37 1 27621107 27621108 + Frame_Shift_Ins INS - - G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 1 27621107 27621108 - G INS WDTC1 ENST00000319394 human ensembl 74_37 +1 known frame_shift_ins c.860_861 p.E290fs 1.000:1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDTC1 HGNC ENSG00000142784 tier1 39 0 0.00 22 5 18.52 XKR4 0 genome.wustl.edu 37 8 56436615 56436615 + Silent SNP C C A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 56436615 56436615 C A SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known silent c.1782 p.V594 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 59 0 0.00 20 19 48.72 ZBBX 0 genome.wustl.edu 37 3 166958584 166958584 + Silent SNP A A C TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 3 166958584 166958584 A C SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known silent c.2517 p.T839 0.001 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 71 0 0.00 25 18 41.86 ZFHX4 0 genome.wustl.edu 37 8 77763904 77763904 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 8 77763904 77763904 G A SNP ZFHX4 ENST00000521891 human ensembl 74_37 +1 known missense c.4747 p.E1583K 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 tier1 - - 23 0 0.00 7 15 68.18 ZNF101 0 genome.wustl.edu 37 19 19790986 19790986 + Missense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 19790986 19790986 T G SNP ZNF101 ENST00000318110 human ensembl 74_37 +1 known missense c.1188 p.C396W 0.034 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 ZNF101 HGNC ENSG00000181896 tier1 - - 44 0 0.00 11 27 71.05 ZNF17 0 genome.wustl.edu 37 19 57932734 57932734 + Missense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 57932734 57932734 T G SNP ZNF17 ENST00000601808 human ensembl 74_37 +1 known missense c.1874 p.L625R 0.033 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF17 HGNC ENSG00000186272 tier1 - - 83 0 0.00 62 6 8.70 ZNF185 0 genome.wustl.edu 37 X 152087569 152087569 + Silent SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 X 152087569 152087569 C T SNP ZNF185 ENST00000370270 human ensembl 74_37 +1 known silent c.474 p.T158 0.000 NULL smart_Znf_LIM,pfscan_Znf_LIM - no_errors ZNF185 HGNC ENSG00000147394 tier1 - - 19 0 0.00 5 11 64.71 ZNF320 0 genome.wustl.edu 37 19 53384008 53384008 + Silent SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 53384008 53384008 A T SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known silent c.1371 p.I457 0.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 tier1 - - 73 0 0.00 23 48 67.61 ZNF345 0 genome.wustl.edu 37 19 37368711 37368711 + Missense_Mutation SNP T T G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 37368711 37368711 T G SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known missense c.979 p.S327A 0.071 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 tier1 - - 44 0 0.00 60 11 15.49 ZNF415 0 genome.wustl.edu 37 19 53611982 53611982 + Missense_Mutation SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 53611982 53611982 G A SNP ZNF415 ENST00000448501 human ensembl 74_37 -1 known missense c.1460 p.P487L 0.938 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_BED_prd,pfscan_Znf_C2H2 - no_errors ZNF415 HGNC ENSG00000170954 tier1 - - 64 0 0.00 70 4 5.41 ZNF492 0 genome.wustl.edu 37 19 22836737 22836737 + Missense_Mutation SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 22836737 22836737 A G SNP ZNF492 ENST00000456783 human ensembl 74_37 +1 known missense c.50 p.K17R 0.455 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF492 HGNC ENSG00000229676 tier1 - - 116 0 0.00 47 16 25.40 ZNF544 0 genome.wustl.edu 37 19 58773550 58773550 + Silent SNP G G A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 58773550 58773550 G A SNP ZNF544 ENST00000269829 human ensembl 74_37 +1 known silent c.1578 p.G526 0.630 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF544 HGNC ENSG00000198131 tier1 - - 42 0 0.00 41 9 18.00 ZNF599 0 genome.wustl.edu 37 19 35250120 35250120 + Missense_Mutation SNP T T A TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 35250120 35250120 T A SNP ZNF599 ENST00000329285 human ensembl 74_37 -1 known missense c.1586 p.H529L 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF599 HGNC ENSG00000153896 tier1 - - 93 0 0.00 129 36 21.69 ZNF726 0 genome.wustl.edu 37 19 24102806 24102806 + Missense_Mutation SNP C C T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 24102806 24102806 C T SNP ZNF726 ENST00000322487 human ensembl 74_37 +1 known missense c.148 p.P50S 0.005 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF726 HGNC ENSG00000213967 tier1 - - 94 0 0.00 52 4 7.02 ZNF804B 0 genome.wustl.edu 37 7 88965050 88965050 + Silent SNP A A G TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 7 88965050 88965050 A G SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known silent c.2754 p.G918 0.003 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 54 0 0.00 22 11 33.33 ZNF85 0 genome.wustl.edu 37 19 21132975 21132975 + Missense_Mutation SNP A A T TCGA-2H-A9GG-01A-11D-A37C-09 TCGA-2H-A9GG-11A-11D-A37F-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 1e30cc78-6391-4fa7-9a12-e8811ec6b088 c2f3cff6-6730-4b99-9e89-aaead9912e18 19 21132975 21132975 A T SNP ZNF85 ENST00000328178 human ensembl 74_37 +1 known missense c.1655 p.N552I 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF85 HGNC ENSG00000105750 tier1 - - 52 0 0.00 21 19 47.50