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 AAAS 0 genome.wustl.edu 37 12 53709127 53709127 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 53709127 53709127 G T SNP AAAS ENST00000209873 human ensembl 74_37 -1 known missense c.391 p.H131N 1.000 NULL pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AAAS HGNC ENSG00000094914 36 0 0.00 28 2 6.67 ABCA2 0 genome.wustl.edu 37 9 139905491 139905491 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 139905491 139905491 G A SNP ABCA2 ENST00000265662 human ensembl 74_37 -1 known missense c.5990 p.A1997V 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA2 HGNC ENSG00000107331 tier1 - - 98 0 0.00 57 50 46.73 ABCB6 0 genome.wustl.edu 37 2 220083263 220083263 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 220083263 220083263 C T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.133 p.V45M 1.000 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 tier1 - - 119 0 0.00 74 16 17.78 ADAM12 0 genome.wustl.edu 37 10 127753405 127753405 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 127753405 127753405 C T SNP ADAM12 ENST00000368679 human ensembl 74_37 -1 known missense c.1588 p.E530K 1.000 pfam_ADAM_Cys-rich,smart_ADAM_Cys-rich pfam_Peptidase_M12B,pfam_ADAM_Cys-rich,pfam_Peptidase_M12B_N,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 ADAM12 HGNC ENSG00000148848 tier1 - - 39 0 0.00 22 7 24.14 ADAM28 0 genome.wustl.edu 37 8 24178785 24178785 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 24178785 24178785 G A SNP ADAM28 ENST00000265769 human ensembl 74_37 +1 known missense c.703 p.A235T 1.000 pfam_Peptidase_M12B,pfscan_Peptidase_M12B 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 ADAM28 HGNC ENSG00000042980 59 0 0.00 36 2 5.26 ADAMTS8 0 genome.wustl.edu 37 11 130289037 130289037 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 130289037 130289037 G A SNP ADAMTS8 ENST00000257359 human ensembl 74_37 -1 known missense c.871 p.R291C 0.999 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Pept_M12B_ADAM-TS8,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS8 HGNC ENSG00000134917 tier1 - - 83 0 0.00 26 30 53.57 ADAP1 0 genome.wustl.edu 37 7 938841 938841 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 938841 938841 G A SNP ADAP1 ENST00000539900 human ensembl 74_37 -1 known silent c.958 p.L320 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,smart_ArfGAP,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors ADAP1 HGNC ENSG00000105963 101 0 0.00 83 5 5.68 AHSG 0 genome.wustl.edu 37 3 186333473 186333473 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 186333473 186333473 G T SNP AHSG ENST00000411641 human ensembl 74_37 +1 known splice_site c.214-1 e2-1 0.989 - - - no_errors AHSG HGNC ENSG00000145192 54 0 0.00 31 3 8.82 AIRE 0 genome.wustl.edu 37 21 45706439 45706439 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 21 45706439 45706439 G T SNP AIRE ENST00000291582 human ensembl 74_37 +1 known splice_site c.133-1 e2-1 1.000 - - - no_errors AIRE HGNC ENSG00000160224 45 0 0.00 21 5 19.23 AKNAD1 0 genome.wustl.edu 37 1 109363176 109363176 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 109363176 109363176 G T SNP AKNAD1 ENST00000370001 human ensembl 74_37 -1 known missense c.2240 p.T747K 0.000 NULL pfam_TF_AT-hook - no_errors AKNAD1 HGNC ENSG00000162641 tier1 - - 89 0 0.00 60 4 6.25 ALS2CL 0 genome.wustl.edu 37 3 46723579 46723579 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 46723579 46723579 G T SNP ALS2CL ENST00000318962 human ensembl 74_37 -1 known missense c.1115 p.T372N 0.997 pfam_MORN,smart_MORN pfam_MORN,pfam_VPS9,superfamily_DH-domain,smart_MORN,pfscan_VPS9 - no_errors ALS2CL HGNC ENSG00000178038 tier1 - - 85 0 0.00 58 5 7.94 ANK3 0 genome.wustl.edu 37 10 61830581 61830581 + Missense_Mutation SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 61830581 61830581 T C SNP ANK3 ENST00000280772 human ensembl 74_37 -1 known missense c.10058 p.K3353R 1.000 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK3 HGNC ENSG00000151150 tier1 - - 73 0 0.00 47 4 7.84 ANKRD60 0 genome.wustl.edu 37 20 56803315 56803315 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 20 56803315 56803315 G A SNP ANKRD60 ENST00000457363 human ensembl 74_37 -1 known missense c.395 p.P132L 0.899 pfscan_Ubiquitin_supergroup pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin_supergroup - no_errors ANKRD60 HGNC ENSG00000124227 tier1 - - 86 0 0.00 42 42 50.00 APC 0 genome.wustl.edu 37 5 112179573 112179573 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 112179573 112179573 C A SNP APC ENST00000257430 human ensembl 74_37 +1 known missense c.8282 p.P2761Q 1.000 pfam_EB1-bd 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 56 0 0.00 37 2 5.13 APOBR 0 genome.wustl.edu 37 16 28507082 28507082 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 28507082 28507082 G T SNP APOBR ENST00000564831 human ensembl 74_37 +1 known silent c.720 p.G240 0.003 NULL NULL - no_errors APOBR HGNC ENSG00000184730 37 0 0.00 55 3 5.17 APOM 0 genome.wustl.edu 37 6 31625026 31625026 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 31625026 31625026 G T SNP APOM ENST00000375916 human ensembl 74_37 +1 known silent c.294 p.R98 0.973 pfam_ApoM,superfamily_Calycin-like pfam_ApoM,superfamily_Calycin-like - no_errors APOM HGNC ENSG00000204444 tier1 - - 84 0 0.00 56 4 6.67 ARHGAP9 0 genome.wustl.edu 37 12 57872895 57872895 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 57872895 57872895 C T SNP ARHGAP9 ENST00000356411 human ensembl 74_37 -1 known missense c.295 p.G99S 0.032 superfamily_SH3_domain pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP9 HGNC ENSG00000123329 tier1 - - 39 0 0.00 27 10 27.03 ARID1B 0 genome.wustl.edu 37 6 157525018 157525018 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 157525018 157525018 G A SNP ARID1B ENST00000367148 human ensembl 74_37 +1 known missense c.5033 p.R1678H 1.000 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1B HGNC ENSG00000049618 tier1 - - 97 0 0.00 57 44 43.56 ARMC4 0 genome.wustl.edu 37 10 28149697 28149697 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 28149697 28149697 C A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.2878 p.G960C 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 54 0 0.00 38 2 5.00 ATP8B1 0 genome.wustl.edu 37 18 55365039 55365040 + Frame_Shift_Ins INS - - T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 55365039 55365040 - T INS ATP8B1 ENST00000283684 human ensembl 74_37 -1 known frame_shift_ins c.615_614 p.N205fs 1.000:1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B1 HGNC ENSG00000081923 tier1 70 0 0.00 62 25 28.74 BAI1 0 genome.wustl.edu 37 8 143623484 143623484 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 143623484 143623484 G T SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.3889 p.G1297W 0.997 NULL pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like - no_errors BAI1 HGNC ENSG00000181790 79 0 0.00 68 4 5.48 BCL11B 0 genome.wustl.edu 37 14 99723818 99723818 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 99723818 99723818 C T SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known silent c.417 p.E139 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 tier1 - - 55 0 0.00 30 39 56.52 BMS1P8 0 genome.wustl.edu 37 16 33497547 33497547 + RNA SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 33497547 33497547 T C SNP BMS1P8 ENST00000565156 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BMS1P8 HGNC ENSG00000260518 tier1 - - 380 0 0.00 332 40 10.75 BRWD1 0 genome.wustl.edu 37 21 40569302 40569302 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 21 40569302 40569302 G A SNP BRWD1 ENST00000333229 human ensembl 74_37 -1 known missense c.5693 p.S1898F 0.953 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD1 HGNC ENSG00000185658 tier1 - - 51 0 0.00 47 4 7.84 BUB1B 0 genome.wustl.edu 37 15 40501908 40501908 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 40501908 40501908 C T SNP BUB1B ENST00000412359 human ensembl 74_37 +1 known missense c.2258 p.A753V 0.001 NULL pfam_Mad3_BUB1_I,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I - no_errors BUB1B HGNC ENSG00000156970 tier1 - - 64 0 0.00 79 23 22.55 C1orf86 0 genome.wustl.edu 37 1 2116604 2116604 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 2116604 2116604 G T SNP C1orf86 ENST00000469733 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1orf86 HGNC ENSG00000162585 tier1 - - 71 0 0.00 17 22 56.41 CA10 0 genome.wustl.edu 37 17 50235352 50235352 + RNA SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 50235352 50235352 C T SNP CA10 ENST00000573294 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CA10 HGNC ENSG00000154975 tier1 - - 53 0 0.00 49 18 26.87 CACNA1A 0 genome.wustl.edu 37 19 13441080 13441080 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 13441080 13441080 C T SNP CACNA1A ENST00000360228 human ensembl 74_37 -1 known silent c.1323 p.Q441 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_P/Q_a1su - no_errors CACNA1A HGNC ENSG00000141837 tier1 - - 64 0 0.00 55 4 6.78 CACNA1C 0 genome.wustl.edu 37 12 2778185 2778185 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 2778185 2778185 G T SNP CACNA1C ENST00000399634 human ensembl 74_37 +1 known silent c.4710 p.L1570 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1C HGNC ENSG00000151067 tier1 - - 62 0 0.00 40 4 9.09 CAPN15 0 genome.wustl.edu 37 16 597573 597573 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 597573 597573 G A SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known silent c.735 p.P245 0.925 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 tier1 - - 29 0 0.00 29 5 14.71 CARHSP1 0 genome.wustl.edu 37 16 8953101 8953101 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 8953101 8953101 G T SNP CARHSP1 ENST00000311052 human ensembl 74_37 -1 known missense c.85 p.R29S 0.998 NULL pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot - no_errors CARHSP1 HGNC ENSG00000153048 tier1 - - 32 0 0.00 34 4 10.53 CARKD 0 genome.wustl.edu 37 13 111287078 111287078 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 13 111287078 111287078 G A SNP CARKD ENST00000309957 human ensembl 74_37 +1 known silent c.606 p.V202 0.404 pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel - no_errors CARKD HGNC ENSG00000213995 tier1 - - 32 0 0.00 30 4 11.43 CARTPT 0 genome.wustl.edu 37 5 71016607 71016607 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 71016607 71016607 G T SNP CARTPT ENST00000513096 human ensembl 74_37 +1 putative rna NULL NULL 0.178 - - - no_errors CARTPT HGNC ENSG00000164326 tier1 - - 106 0 0.00 72 4 5.26 CASKIN1 0 genome.wustl.edu 37 16 2240120 2240120 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 2240120 2240120 G A SNP CASKIN1 ENST00000343516 human ensembl 74_37 -1 known silent c.198 p.S66 0.597 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN1 HGNC ENSG00000167971 tier1 - - 68 0 0.00 48 6 11.11 CBR1 0 genome.wustl.edu 37 21 37444605 37444605 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 21 37444605 37444605 C T SNP CBR1 ENST00000399191 human ensembl 74_37 +1 putative silent c.531 p.C177 0.000 NULL pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH - no_errors CBR1 HGNC ENSG00000159228 tier1 - - 77 0 0.00 58 4 6.45 CC2D2A 0 genome.wustl.edu 37 4 15529096 15529096 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 15529096 15529096 G A SNP CC2D2A ENST00000413206 human ensembl 74_37 +1 known silent c.1176 p.Q392 1.000 NULL superfamily_C2_dom,smart_C2_dom - no_errors CC2D2A HGNC ENSG00000048342 tier1 - - 99 0 0.00 58 23 28.40 CCDC64 0 genome.wustl.edu 37 12 120427970 120427970 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 120427970 120427970 C A SNP CCDC64 ENST00000397558 human ensembl 74_37 +1 novel missense c.298 p.L100M 1.000 NULL NULL - no_errors CCDC64 HGNC ENSG00000135127 101 0 0.00 72 4 5.26 CCDC96 0 genome.wustl.edu 37 4 7043369 7043369 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 7043369 7043369 G T SNP CCDC96 ENST00000310085 human ensembl 74_37 -1 known missense c.1297 p.R433S 0.081 NULL NULL - no_errors CCDC96 HGNC ENSG00000173013 tier1 - - 41 0 0.00 34 4 10.53 CCNA2 0 genome.wustl.edu 37 4 122744749 122744749 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 122744749 122744749 C T SNP CCNA2 ENST00000274026 human ensembl 74_37 -1 known missense c.35 p.R12H 1.000 pirsf_Cyclin_A/B/D/E pfam_Cyclin_N,pfam_Cyclin_C-dom,superfamily_Cyclin-like,smart_Cyclin-like,pirsf_Cyclin_A/B/D/E - no_errors CCNA2 HGNC ENSG00000145386 tier1 - - 29 0 0.00 24 4 14.29 CD5 0 genome.wustl.edu 37 11 60886405 60886405 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 60886405 60886405 C A SNP CD5 ENST00000347785 human ensembl 74_37 +1 known missense c.419 p.P140H 0.116 superfamily_Srcr_rcpt-rel,prints_Tcell_CD5 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Tcell_CD5,prints_SRCR - no_errors CD5 HGNC ENSG00000110448 tier1 - - 42 0 0.00 44 4 8.33 CD84 0 genome.wustl.edu 37 1 160535365 160535365 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 160535365 160535365 C T SNP CD84 ENST00000311224 human ensembl 74_37 -1 novel missense c.217 p.V73I 0.000 smart_Ig_sub smart_Ig_sub,pfscan_Ig-like_dom - no_errors CD84 HGNC ENSG00000066294 tier1 - - 72 0 0.00 73 6 7.59 CDCA7L 0 genome.wustl.edu 37 7 21948030 21948030 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 21948030 21948030 G A SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known silent c.399 p.S133 0.001 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 39 0 0.00 38 2 5.00 CEP112 0 genome.wustl.edu 37 17 64024488 64024488 + Silent SNP G G C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 64024488 64024488 G C SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known silent c.1539 p.V513 0.983 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 tier1 - - 53 0 0.00 58 9 13.43 CEP112 0 genome.wustl.edu 37 17 64025255 64025255 + Missense_Mutation SNP G G C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 64025255 64025255 G C SNP CEP112 ENST00000392769 human ensembl 74_37 -1 known missense c.1489 p.L497V 0.917 NULL superfamily_t-SNARE - no_errors CEP112 HGNC ENSG00000154240 tier1 - - 79 0 0.00 73 9 10.98 CEP95 0 genome.wustl.edu 37 17 62521951 62521951 + Missense_Mutation SNP C C G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 62521951 62521951 C G SNP CEP95 ENST00000556440 human ensembl 74_37 +1 known missense c.973 p.P325A 0.000 NULL superfamily_CH-domain - no_errors CEP95 HGNC ENSG00000258890 tier1 - - 78 0 0.00 107 25 18.80 CEPT1 0 genome.wustl.edu 37 1 111690319 111690320 + RNA INS - - A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 111690319 111690320 - A INS CEPT1 ENST00000460443 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.005 - - - no_errors CEPT1 HGNC ENSG00000134255 tier1 35 0 0.00 27 2 6.90 CERS5 0 genome.wustl.edu 37 12 50528336 50528336 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 50528336 50528336 C A SNP CERS5 ENST00000317551 human ensembl 74_37 -1 known missense c.1022 p.R341M 0.983 pirsf_Longevity_assurance_LAG1_LAC1 pfam_TLC-dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_TLC-dom,pirsf_Longevity_assurance_LAG1_LAC1,pfscan_TLC-dom,pfscan_Homeobox_dom - no_errors CERS5 HGNC ENSG00000139624 tier1 - - 79 0 0.00 66 4 5.71 CHD7 0 genome.wustl.edu 37 8 61707598 61707598 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 61707598 61707598 G T SNP CHD7 ENST00000423902 human ensembl 74_37 +1 known missense c.2150 p.G717V 1.000 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD7 HGNC ENSG00000171316 89 0 0.00 72 4 5.26 CHRM3 0 genome.wustl.edu 37 1 240072323 240072323 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 240072323 240072323 C A SNP CHRM3 ENST00000255380 human ensembl 74_37 +1 known silent c.1572 p.T524 0.995 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_Ach_M3_rcpt,prints_Musac_Ach_rcpt,prints_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 tier1 - - 57 0 0.00 56 4 6.67 CHST5 0 genome.wustl.edu 37 16 75563653 75563653 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 75563653 75563653 G T SNP CHST5 ENST00000541075 human ensembl 74_37 -1 known silent c.648 p.L216 0.909 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase,pirsf_Carbohydrate_sulfotransferase - no_errors CHST5 HGNC ENSG00000135702 32 0 0.00 23 3 11.54 CLPTM1 0 genome.wustl.edu 37 19 45489736 45489736 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 45489736 45489736 G A SNP CLPTM1 ENST00000337392 human ensembl 74_37 +1 known silent c.696 p.V232 1.000 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1 HGNC ENSG00000104853 81 0 0.00 50 3 5.66 CLRN2 0 genome.wustl.edu 37 4 17524614 17524614 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 17524614 17524614 G A SNP CLRN2 ENST00000511148 human ensembl 74_37 +1 known silent c.381 p.P127 0.013 pfam_PMP22/EMP/MP20/Claudin pfam_PMP22/EMP/MP20/Claudin - no_errors CLRN2 HGNC ENSG00000249581 tier1 - - 76 0 0.00 32 8 20.00 CNRIP1 0 genome.wustl.edu 37 2 68544289 68544289 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 68544289 68544289 C A SNP CNRIP1 ENST00000263655 human ensembl 74_37 -1 known silent c.330 p.P110 1.000 NULL NULL - no_errors CNRIP1 HGNC ENSG00000119865 67 0 0.00 72 4 5.26 CNTN4 0 genome.wustl.edu 37 3 3080635 3080635 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 3080635 3080635 C T SNP CNTN4 ENST00000397461 human ensembl 74_37 +1 known missense c.2111 p.A704V 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,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 CNTN4 HGNC ENSG00000144619 tier1 - - 98 0 0.00 82 5 5.75 COL11A1 0 genome.wustl.edu 37 1 103352363 103352363 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 103352363 103352363 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.4894 p.G1632C 1.000 pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL11A1 HGNC ENSG00000060718 tier1 - - 53 0 0.00 40 4 9.09 COL19A1 0 genome.wustl.edu 37 6 70856587 70856587 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 70856587 70856587 G A SNP COL19A1 ENST00000322773 human ensembl 74_37 +1 known missense c.1807 p.G603R 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 tier1 - - 100 0 0.00 78 21 21.21 CPEB1 0 genome.wustl.edu 37 15 83218339 83218340 + Frame_Shift_Ins INS - - G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 83218339 83218340 - G INS CPEB1 ENST00000562019 human ensembl 74_37 -1 known frame_shift_ins c.1285_1284 p.S428fs 1.000:1.000 NULL pfscan_RRM_dom - no_errors CPEB1 HGNC ENSG00000214575 tier1 55 0 0.00 26 15 36.59 CPNE5 0 genome.wustl.edu 37 6 36710042 36710042 + RNA DEL G G - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 36710042 36710042 G - DEL CPNE5 ENST00000459703 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CPNE5 HGNC ENSG00000124772 tier1 41 0 0.00 17 2 10.53 CPS1 0 genome.wustl.edu 37 2 211515163 211515163 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 211515163 211515163 G T SNP CPS1 ENST00000430249 human ensembl 74_37 +1 known splice_site c.3498+1 e29+1 1.000 - - - no_errors CPS1 HGNC ENSG00000021826 tier1 - - 94 0 0.00 73 21 22.34 CPT1C 0 genome.wustl.edu 37 19 50208316 50208316 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 50208316 50208316 C T SNP CPT1C ENST00000323446 human ensembl 74_37 +1 known missense c.824 p.A275V 0.656 pfam_Carn_acyl_trans pfam_Carn_acyl_trans - no_errors CPT1C HGNC ENSG00000169169 27 0 0.00 30 2 6.25 CRTAC1 0 genome.wustl.edu 37 10 99655678 99655678 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 99655678 99655678 G T SNP CRTAC1 ENST00000370597 human ensembl 74_37 -1 known silent c.1281 p.S427 1.000 NULL pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom - no_errors CRTAC1 HGNC ENSG00000095713 42 0 0.00 32 4 10.81 CSF2RA 0 genome.wustl.edu 37 X 1428408 1428408 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda X 1428408 1428408 G A SNP CSF2RA ENST00000355432 human ensembl 74_37 +1 known missense c.1060 p.A354T 0.000 NULL pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors CSF2RA HGNC ENSG00000198223 tier1 - - 336 0 0.00 152 80 34.48 CSNK1D 0 genome.wustl.edu 37 17 80202572 80202572 + RNA SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 80202572 80202572 C A SNP CSNK1D ENST00000577578 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors CSNK1D HGNC ENSG00000141551 tier1 - - 109 0 0.00 70 23 24.73 CTNNA3 0 genome.wustl.edu 37 10 68535271 68535271 + Frame_Shift_Del DEL T T - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 68535271 68535271 T - DEL CTNNA3 ENST00000373744 human ensembl 74_37 -1 known frame_shift_del c.1059 p.E354fs 0.960 pfam_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA3 HGNC ENSG00000183230 tier1 74 0 0.00 54 12 18.18 CTSF 0 genome.wustl.edu 37 11 66335492 66335492 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 66335492 66335492 G T SNP CTSF ENST00000310325 human ensembl 74_37 -1 known missense c.275 p.P92H 1.000 NULL pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSF HGNC ENSG00000174080 76 0 0.00 71 4 5.33 CTSL 0 genome.wustl.edu 37 9 90345320 90345320 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 90345320 90345320 G T SNP CTSL ENST00000340342 human ensembl 74_37 +1 known missense c.809 p.S270I 1.000 pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C - no_errors CTSL HGNC ENSG00000135047 tier1 - - 69 0 0.00 76 4 5.00 CX3CL1 0 genome.wustl.edu 37 16 57413557 57413557 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 57413557 57413557 G T SNP CX3CL1 ENST00000006053 human ensembl 74_37 +1 known missense c.82 p.G28C 0.020 superfamily_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 tier1 - - 110 0 0.00 75 4 5.00 CYP4F3 0 genome.wustl.edu 37 19 15769357 15769357 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 15769357 15769357 G A SNP CYP4F3 ENST00000221307 human ensembl 74_37 +1 known missense c.1306 p.D436N 0.860 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_E_grp-II - no_errors CYP4F3 HGNC ENSG00000186529 tier1 - - 95 0 0.00 26 33 55.93 DAB1 0 genome.wustl.edu 37 1 57480792 57480792 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 57480792 57480792 G T SNP DAB1 ENST00000371231 human ensembl 74_37 -1 known missense c.1307 p.T436N 1.000 NULL pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom - no_errors DAB1 HGNC ENSG00000173406 tier1 - - 80 0 0.00 55 4 6.78 DCC 0 genome.wustl.edu 37 18 51025708 51025708 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 51025708 51025708 G T SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3939 p.L1313 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 100 0 0.00 82 32 28.07 DCDC1 0 genome.wustl.edu 37 11 30914471 30914471 + Missense_Mutation SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 30914471 30914471 T C SNP DCDC1 ENST00000406071 human ensembl 74_37 -1 known missense c.1181 p.K394R 0.000 NULL NULL - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 73 0 0.00 26 31 54.39 DCLRE1C 0 genome.wustl.edu 37 10 14970128 14970128 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 14970128 14970128 G T SNP DCLRE1C ENST00000378278 human ensembl 74_37 -1 known missense c.804 p.S268R 1.000 pfam_DRMBL pfam_DRMBL - no_errors DCLRE1C HGNC ENSG00000152457 tier1 - - 42 0 0.00 33 3 8.33 DCT 0 genome.wustl.edu 37 13 95121153 95121153 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 13 95121153 95121153 C T SNP DCT ENST00000446125 human ensembl 74_37 -1 known missense c.442 p.A148T 0.948 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors DCT HGNC ENSG00000080166 tier1 - - 63 0 0.00 47 6 11.32 DCX 0 genome.wustl.edu 37 X 110644499 110644499 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda X 110644499 110644499 C A SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.667 p.V223F 1.000 pirsf_Doublecortin_chordata pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 - - 24 0 0.00 3 21 87.50 DDX51 0 genome.wustl.edu 37 12 132626438 132626438 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 132626438 132626438 G T SNP DDX51 ENST00000397333 human ensembl 74_37 -1 known missense c.952 p.Q318K 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX51 HGNC ENSG00000185163 tier1 - - 88 0 0.00 61 4 6.15 DIRAS3 0 genome.wustl.edu 37 1 68512485 68512485 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 68512485 68512485 C A SNP DIRAS3 ENST00000370981 human ensembl 74_37 -1 known missense c.496 p.G166C 1.000 pfam_Small_GTPase,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors DIRAS3 HGNC ENSG00000162595 60 0 0.00 30 3 9.09 DNM1P47 0 genome.wustl.edu 37 15 102294919 102294919 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 102294919 102294919 G T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.254 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 35 0 0.00 27 4 12.90 DNM1P47 0 genome.wustl.edu 37 15 102296231 102296231 + RNA SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 102296231 102296231 C T SNP DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 - - 15 0 0.00 11 5 31.25 DOCK4 0 genome.wustl.edu 37 7 111428768 111428768 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 111428768 111428768 C T SNP DOCK4 ENST00000428084 human ensembl 74_37 -1 known silent c.3351 p.L1117 1.000 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK4 HGNC ENSG00000128512 tier1 - - 67 0 0.00 27 29 51.79 DUSP10 0 genome.wustl.edu 37 1 221875156 221875157 + RNA INS - - A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 221875156 221875157 - A INS DUSP10 ENST00000468085 human ensembl 74_37 -1 known rna NULL NULL 0.002:0.000 - - - no_errors DUSP10 HGNC ENSG00000143507 tier1 20 0 0.00 39 5 11.36 DVL3 0 genome.wustl.edu 37 3 183888379 183888379 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 183888379 183888379 G A SNP DVL3 ENST00000313143 human ensembl 74_37 +1 known missense c.1987 p.G663S 1.000 pfam_Dishevelled_C-dom pfam_Dishevelled_C-dom,pfam_DIX,pfam_Dishevelled_protein_dom,pfam_PDZ,pfam_DEP_dom,superfamily_PDZ,smart_DIX,smart_PDZ,smart_DEP_dom,pfscan_DEP_dom,pfscan_DIX,pfscan_PDZ,prints_Dishevelled_fam,prints_Dishevelled_3 - no_errors DVL3 HGNC ENSG00000161202 tier1 - - 45 0 0.00 30 7 18.42 EBF2 0 genome.wustl.edu 37 8 25715990 25715990 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 25715990 25715990 G T SNP EBF2 ENST00000520164 human ensembl 74_37 -1 known missense c.1373 p.P458Q 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF2 HGNC ENSG00000221818 81 0 0.00 55 3 5.17 EDC4 0 genome.wustl.edu 37 16 67910814 67910814 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 67910814 67910814 G T SNP EDC4 ENST00000358933 human ensembl 74_37 +1 known missense c.390 p.Q130H 1.000 superfamily_WD40_repeat_dom superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors EDC4 HGNC ENSG00000038358 39 0 0.00 37 2 5.13 EDEM1 0 genome.wustl.edu 37 3 5244835 5244835 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 5244835 5244835 G T SNP EDEM1 ENST00000256497 human ensembl 74_37 +1 known splice_site c.1042+1 e5+1 1.000 - - - no_errors EDEM1 HGNC ENSG00000134109 tier1 - - 68 0 0.00 38 4 9.52 EGLN3 0 genome.wustl.edu 37 14 34400348 34400348 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 34400348 34400348 C T SNP EGLN3 ENST00000250457 human ensembl 74_37 -1 known missense c.431 p.R144H 1.000 pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN3 HGNC ENSG00000129521 44 0 0.00 43 3 6.52 EHMT1 0 genome.wustl.edu 37 9 140710434 140710434 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 140710434 140710434 G T SNP EHMT1 ENST00000460843 human ensembl 74_37 +1 known missense c.3294 p.E1098D 1.000 pfam_Pre-SET_dom,smart_Pre-SET_Zn-bd_sub,pfscan_Pre-SET_dom pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 tier1 - - 66 0 0.00 49 4 7.55 EIF3B 0 genome.wustl.edu 37 7 2412354 2412354 + Silent SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 2412354 2412354 T C SNP EIF3B ENST00000360876 human ensembl 74_37 +1 known silent c.1734 p.A578 0.023 pfam_TIF_beta_prop-like,pirsf_EIF3B pfam_TIF_beta_prop-like,pfam_RRM_dom,smart_RRM_dom,pirsf_EIF3B,pfscan_RRM_dom - no_errors EIF3B HGNC ENSG00000106263 tier1 - - 146 0 0.00 92 25 21.19 ENSG00000205790 0 genome.wustl.edu 37 19 4682879 4682880 + RNA DEL AG AG - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 AG AG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 4682879 4682880 AG - DEL ENSG00000205790 ENST00000381796 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.006 - - - no_errors AC005594.3 Clone_based_vega_gene ENSG00000205790 tier1 33 0 0.00 32 3 8.57 ENSG00000206647 0 genome.wustl.edu 37 2 10295249 10295249 + RNA SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 10295249 10295249 G A SNP ENSG00000206647 ENST00000383920 human ensembl 74_37 -1 novel rna NULL NULL 0.016 - - - no_errors SNORA2 RFAM ENSG00000206647 tier1 - - 24 0 0.00 8 4 33.33 ENSG00000216032 0 genome.wustl.edu 37 X 145072391 145072391 + RNA SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda X 145072391 145072391 C A SNP ENSG00000216032 ENST00000401213 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL445258.1 Clone_based_ensembl_gene ENSG00000216032 tier1 - - 34 0 0.00 22 4 15.38 ENSG00000216089 0 genome.wustl.edu 37 4 160216910 160216910 + RNA SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 160216910 160216910 C T SNP ENSG00000216089 ENST00000401270 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC105316.1 Clone_based_ensembl_gene ENSG00000216089 tier1 - - 41 0 0.00 29 4 12.12 ENSG00000254971 0 genome.wustl.edu 37 11 89487185 89487185 + RNA SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 89487185 89487185 C A SNP ENSG00000254971 ENST00000527332 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-313I2.11 Clone_based_vega_gene ENSG00000254971 tier1 - - 128 0 0.00 133 20 13.07 ENSG00000255118 0 genome.wustl.edu 37 11 62105447 62105447 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 62105447 62105447 G T SNP ENSG00000255118 ENST00000400902 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-703H8.7 Clone_based_vega_gene ENSG00000255118 tier1 - - 74 0 0.00 52 4 7.14 ENSG00000264048 0 genome.wustl.edu 37 1 16011005 16011006 + RNA INS - - GGC TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 16011005 16011006 - GGC INS ENSG00000264048 ENST00000584345 human ensembl 74_37 +1 novel rna NULL NULL 1.000:0.998 - - - no_errors AL121992.1 Clone_based_ensembl_gene ENSG00000264048 tier1 8 0 0.00 6 4 40.00 EPG5 0 genome.wustl.edu 37 18 43495476 43495476 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 43495476 43495476 C A SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.3693 p.Q1231H 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 - - 52 0 0.00 67 4 5.63 ERRFI1 0 genome.wustl.edu 37 1 8074194 8074194 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 8074194 8074194 C T SNP ERRFI1 ENST00000377482 human ensembl 74_37 -1 known silent c.465 p.P155 0.005 NULL pfam_Cdc42_binding_dom_like,pfam_Inhibitor_Mig-6 - no_errors ERRFI1 HGNC ENSG00000116285 tier1 rs141231690 - 39 0 0.00 24 4 14.29 EXOC6 0 genome.wustl.edu 37 10 94773986 94773986 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 94773986 94773986 G T SNP EXOC6 ENST00000371547 human ensembl 74_37 +1 known missense c.2179 p.G727W 1.000 pfam_Sec15,pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 65 0 0.00 66 4 5.71 F2R 0 genome.wustl.edu 37 5 76029016 76029016 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 76029016 76029016 C A SNP F2R ENST00000319211 human ensembl 74_37 +1 known missense c.966 p.F322L 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Thrmbn_rcpt,prints_GPCR_Rhodpsn,prints_Protea_act_rcpt - no_errors F2R HGNC ENSG00000181104 tier1 - - 51 0 0.00 25 3 10.71 FAM129B 0 genome.wustl.edu 37 9 130289517 130289517 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 130289517 130289517 G A SNP FAM129B ENST00000373312 human ensembl 74_37 -1 known missense c.271 p.L91F 0.984 pfscan_Pleckstrin_homology pfscan_Pleckstrin_homology - no_errors FAM129B HGNC ENSG00000136830 tier1 - - 88 0 0.00 91 34 27.20 FAM135A 0 genome.wustl.edu 37 6 71235512 71235512 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 71235512 71235512 G T SNP FAM135A ENST00000418814 human ensembl 74_37 +1 known missense c.2725 p.A909S 0.997 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 51 0 0.00 56 3 5.08 FAM86B1 0 genome.wustl.edu 37 8 12051142 12051142 + Missense_Mutation SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 12051142 12051142 T C SNP FAM86B1 ENST00000526708 human ensembl 74_37 -1 known missense c.148 p.S50G 0.016 NULL NULL - no_errors FAM86B1 HGNC ENSG00000186523 tier1 - - 112 0 0.00 48 4 7.69 FAT2 0 genome.wustl.edu 37 5 150946027 150946027 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 150946027 150946027 G T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known silent c.2466 p.P822 0.962 superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 67 0 0.00 44 3 6.38 FLVCR2 0 genome.wustl.edu 37 14 76107334 76107334 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 76107334 76107334 G T SNP FLVCR2 ENST00000238667 human ensembl 74_37 +1 known missense c.1272 p.E424D 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,superfamily_Trimer_LpxA-like,pfscan_MFS_dom - no_errors FLVCR2 HGNC ENSG00000119686 68 0 0.00 61 4 6.15 FNTA 0 genome.wustl.edu 37 8 42919258 42919258 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 42919258 42919258 G A SNP FNTA ENST00000302279 human ensembl 74_37 +1 known missense c.301 p.D101N 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 tier1 - - 103 0 0.00 60 23 27.71 FNTA 0 genome.wustl.edu 37 8 42919288 42919288 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 42919288 42919288 G A SNP FNTA ENST00000302279 human ensembl 74_37 +1 known missense c.331 p.E111K 1.000 NULL pfam_Prenyl_trans_a,pfscan_Prenyl_trans_a - no_errors FNTA HGNC ENSG00000168522 tier1 - - 104 0 0.00 65 27 29.35 FOSL1 0 genome.wustl.edu 37 11 65660497 65660497 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 65660497 65660497 G T SNP FOSL1 ENST00000312562 human ensembl 74_37 -1 known missense c.676 p.L226I 1.000 NULL pfam_bZIP,superfamily_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos - no_errors FOSL1 HGNC ENSG00000175592 49 0 0.00 70 4 5.41 FOXK2 0 genome.wustl.edu 37 17 80561028 80561031 + RNA DEL CAGC CAGC - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 CAGC CAGC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 80561028 80561031 CAGC - DEL FOXK2 ENST00000576912 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:0.998 - - - no_errors RP13-638C3.4 Clone_based_vega_gene ENSG00000261845 tier1 18 0 0.00 18 3 14.29 FRMD4A 0 genome.wustl.edu 37 10 13702382 13702382 + Nonsense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 13702382 13702382 C T SNP FRMD4A ENST00000357447 human ensembl 74_37 -1 known nonsense c.1832 p.W611* 1.000 NULL pfam_DUF3338,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD4A HGNC ENSG00000151474 tier1 - - 106 0 0.00 69 25 26.60 FRMPD1 0 genome.wustl.edu 37 9 37745111 37745111 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 37745111 37745111 G T SNP FRMPD1 ENST00000377765 human ensembl 74_37 +1 known missense c.3082 p.A1028S 0.000 NULL pfam_FERM_central,pfam_PDZ,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD1 HGNC ENSG00000070601 tier1 - - 62 0 0.00 17 35 67.31 FTSJ3 0 genome.wustl.edu 37 17 61899463 61899463 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 61899463 61899463 C A SNP FTSJ3 ENST00000427159 human ensembl 74_37 -1 known missense c.1356 p.R452S 0.416 NULL pfam_rRNA_MeTfrase_Spb1_C,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_rRNA_MeTfrase_Spb1_DUF3381 - no_errors FTSJ3 HGNC ENSG00000108592 tier1 - - 56 0 0.00 74 4 5.13 GAL3ST2 0 genome.wustl.edu 37 2 242743043 242743043 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 242743043 242743043 G A SNP GAL3ST2 ENST00000192314 human ensembl 74_37 +1 known missense c.659 p.R220H 0.924 pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST2 HGNC ENSG00000154252 tier1 - - 41 0 0.00 23 10 30.30 GAL3ST4 0 genome.wustl.edu 37 7 99764827 99764827 + Frame_Shift_Del DEL G G - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 99764827 99764827 G - DEL GAL3ST4 ENST00000426974 human ensembl 74_37 -1 known frame_shift_del c.10 p.R4fs 0.993 NULL pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST4 HGNC ENSG00000197093 tier1 22 0 0.00 20 2 9.09 GANAB 0 genome.wustl.edu 37 11 62406908 62406908 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 62406908 62406908 G T SNP GANAB ENST00000346178 human ensembl 74_37 -1 known missense c.175 p.P59T 1.000 superfamily_Gal_mutarotase_SF_dom pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom - no_errors GANAB HGNC ENSG00000089597 67 0 0.00 70 4 5.41 GAPVD1 0 genome.wustl.edu 37 9 128124957 128124957 + Nonsense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 128124957 128124957 G T SNP GAPVD1 ENST00000394105 human ensembl 74_37 +1 known nonsense c.4396 p.E1466* 1.000 pfam_VPS9,smart_VPS9_subgr,pfscan_VPS9 pfam_RasGAP,pfam_VPS9,superfamily_Rho_GTPase_activation_prot,smart_VPS9_subgr,pfscan_VPS9,pfscan_RasGAP - no_errors GAPVD1 HGNC ENSG00000165219 tier1 - - 33 0 0.00 31 4 11.43 GBP1 0 genome.wustl.edu 37 1 89525079 89525079 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 89525079 89525079 C T SNP GBP1 ENST00000370473 human ensembl 74_37 -1 known missense c.349 p.A117T 1.000 pfam_Guanylate-bd_N,superfamily_P-loop_NTPase pfam_Guanylate-bd_C,pfam_Guanylate-bd_N,superfamily_Guanylate-bd_C,superfamily_P-loop_NTPase - no_errors GBP1 HGNC ENSG00000117228 tier1 rs147085563 - 149 0 0.00 33 59 63.44 GDF5 0 genome.wustl.edu 37 20 34022109 34022109 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 20 34022109 34022109 G T SNP GDF5 ENST00000374369 human ensembl 74_37 -1 known silent c.1104 p.T368 0.129 NULL pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C - no_errors GDF5 HGNC ENSG00000125965 54 0 0.00 54 3 5.26 GLB1 0 genome.wustl.edu 37 3 33118629 33118629 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 33118629 33118629 G T SNP GLB1 ENST00000445488 human ensembl 74_37 -1 known missense c.176 p.A59E 0.002 NULL pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35 - no_errors GLB1 HGNC ENSG00000170266 tier1 - - 74 0 0.00 66 4 5.71 GOLGA7B 0 genome.wustl.edu 37 10 99619339 99619339 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 99619339 99619339 G T SNP GOLGA7B ENST00000370602 human ensembl 74_37 +1 known missense c.137 p.R46L 1.000 pfam_Golgin_A_7/ERF4 pfam_Golgin_A_7/ERF4 - no_errors GOLGA7B HGNC ENSG00000155265 tier1 - - 80 0 0.00 73 4 5.13 GPATCH8 0 genome.wustl.edu 37 17 42541870 42541870 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 42541870 42541870 G T SNP GPATCH8 ENST00000591680 human ensembl 74_37 -1 known missense c.163 p.L55M 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom - no_errors GPATCH8 HGNC ENSG00000186566 tier1 - - 99 0 0.00 54 4 6.90 GRAMD4 0 genome.wustl.edu 37 22 47068794 47068794 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 22 47068794 47068794 C A SNP GRAMD4 ENST00000361034 human ensembl 74_37 +1 known missense c.1139 p.P380Q 1.000 NULL pfam_GRAM,smart_GRAM - no_errors GRAMD4 HGNC ENSG00000075240 tier1 - - 52 0 0.00 45 4 8.16 GRHPR 0 genome.wustl.edu 37 9 37430521 37430521 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 37430521 37430521 G T SNP GRHPR ENST00000318158 human ensembl 74_37 +1 known missense c.612 p.E204D 1.000 pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd - no_errors GRHPR HGNC ENSG00000137106 tier1 - - 35 0 0.00 12 3 20.00 GRID2 0 genome.wustl.edu 37 4 94693643 94693643 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 94693643 94693643 C A SNP GRID2 ENST00000282020 human ensembl 74_37 +1 known silent c.3018 p.S1006 1.000 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRID2 HGNC ENSG00000152208 40 0 0.00 33 3 8.33 GRIK4 0 genome.wustl.edu 37 11 120744855 120744855 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 120744855 120744855 C T SNP GRIK4 ENST00000527524 human ensembl 74_37 +1 known silent c.987 p.G329 0.942 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK4 HGNC ENSG00000149403 tier1 rs111523175 - 46 0 0.00 6 17 73.91 GRM4 0 genome.wustl.edu 37 6 34101143 34101143 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 34101143 34101143 C T SNP GRM4 ENST00000374181 human ensembl 74_37 -1 known missense c.131 p.R44H 1.000 superfamily_Peripla_BP_I,prints_GPCR_3_mtglu_rcpt_4 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_4,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B - no_errors GRM4 HGNC ENSG00000124493 tier1 rs143062959 - 76 0 0.00 23 16 41.03 GSDMC 0 genome.wustl.edu 37 8 130762331 130762331 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 130762331 130762331 G T SNP GSDMC ENST00000276708 human ensembl 74_37 -1 known missense c.1118 p.P373H 0.015 pfam_Gasdermin pfam_Gasdermin - no_errors GSDMC HGNC ENSG00000147697 tier1 - - 87 0 0.00 74 36 32.73 GTPBP10 0 genome.wustl.edu 37 7 89976069 89976069 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 89976069 89976069 G A SNP GTPBP10 ENST00000222511 human ensembl 74_37 +1 known missense c.14 p.S5N 0.062 NULL pfam_GTP_binding_domain,pfam_GTP1_OBG_dom,pfam_Fe2_transport_prot_B_N,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,superfamily_GTP1_OBG_dom,pirsf_GTP-bd_Obg/CgtA,prints_GTP_binding_domain - no_errors GTPBP10 HGNC ENSG00000105793 tier1 - - 61 0 0.00 28 46 62.16 H19 0 genome.wustl.edu 37 11 2018119 2018119 + RNA SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 2018119 2018119 C T SNP H19 ENST00000411754 human ensembl 74_37 -1 known rna NULL NULL 0.624 - - - no_errors H19 HGNC ENSG00000130600 tier1 - - 41 0 0.00 21 8 27.59 HAPLN2 0 genome.wustl.edu 37 1 156594237 156594237 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 156594237 156594237 C A SNP HAPLN2 ENST00000255039 human ensembl 74_37 +1 known silent c.534 p.A178 1.000 pfam_Link,superfamily_C-type_lectin_fold,smart_Link,pfscan_Link pfam_Link,pfam_Ig_V-set,superfamily_C-type_lectin_fold,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Link,pfscan_Link,pfscan_Ig-like_dom,prints_Link - no_errors HAPLN2 HGNC ENSG00000132702 tier1 - - 73 0 0.00 60 4 6.25 HCN3 0 genome.wustl.edu 37 1 155257602 155257602 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 155257602 155257602 G T SNP HCN3 ENST00000368358 human ensembl 74_37 +1 known missense c.1673 p.R558L 1.000 NULL pfam_Ion_trans_N,pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN3 HGNC ENSG00000143630 85 0 0.00 74 4 5.13 HERC2 0 genome.wustl.edu 37 15 28408276 28408276 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 28408276 28408276 G A SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known silent c.10710 p.S3570 0.001 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 49 0 0.00 26 31 54.39 HERC2 0 genome.wustl.edu 37 15 28463812 28463812 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 28463812 28463812 C T SNP HERC2 ENST00000261609 human ensembl 74_37 -1 known missense c.5851 p.E1951K 1.000 NULL pfam_Reg_chr_condens,pfam_HECT,pfam_CPH_domain,pfam_Mib_Herc2,pfam_Cyt_B5-like_heme/steroid-bd,pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_Galactose-bd-like,superfamily_Cyt_B5-like_heme/steroid-bd,superfamily_UBA-like,superfamily_CUB_dom,smart_Beta-propeller_rpt_TECPR,smart_Znf_ZZ,smart_HECT,pfscan_HECT,pfscan_Znf_ZZ,pfscan_Reg_chr_condens,pfscan_Cyt_B5-like_heme/steroid-bd,prints_Reg_chr_condens - no_errors HERC2 HGNC ENSG00000128731 tier1 - - 251 0 0.00 120 101 45.70 HIVEP1 0 genome.wustl.edu 37 6 12161695 12161695 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 12161695 12161695 G A SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known missense c.6511 p.E2171K 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 38 0 0.00 35 2 5.41 HKDC1 0 genome.wustl.edu 37 10 71021109 71021109 + RNA SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 71021109 71021109 G A SNP HKDC1 ENST00000470920 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors HKDC1 HGNC ENSG00000156510 tier1 - - 60 0 0.00 59 4 6.35 HOXB3 0 genome.wustl.edu 37 17 46629737 46629737 + Frame_Shift_Del DEL G G - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 46629737 46629737 G - DEL HOXB3 ENST00000311626 human ensembl 74_37 -1 known frame_shift_del c.100 p.Q34fs 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors HOXB3 HGNC ENSG00000120093 tier1 49 0 0.00 29 3 9.38 HOXC13 0 genome.wustl.edu 37 12 54338823 54338823 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 54338823 54338823 G A SNP HOXC13 ENST00000243056 human ensembl 74_37 +1 known missense c.776 p.R259H 0.999 superfamily_Homeodomain-like,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_HoxA13_N,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HOXC13 HGNC ENSG00000123364 25 0 0.00 35 2 5.41 HS3ST3B1 0 genome.wustl.edu 37 17 14248498 14248498 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 14248498 14248498 G A SNP HS3ST3B1 ENST00000360954 human ensembl 74_37 +1 known silent c.708 p.S236 0.994 pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors HS3ST3B1 HGNC ENSG00000125430 tier1 - - 37 0 0.00 14 21 60.00 HSPG2 0 genome.wustl.edu 37 1 22222693 22222694 + Frame_Shift_Ins INS - - TCCT TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 22222693 22222694 - TCCT INS HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_ins c.174_173 p.D58fs 0.988:1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 43 0 0.00 15 13 46.43 IGFN1 0 genome.wustl.edu 37 1 201177487 201177487 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 201177487 201177487 C A SNP IGFN1 ENST00000335211 human ensembl 74_37 +1 known missense c.3466 p.L1156M 0.998 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors IGFN1 HGNC ENSG00000163395 tier1 - - 46 0 0.00 50 4 7.41 IL7R 0 genome.wustl.edu 37 5 35873732 35873732 + Nonsense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 35873732 35873732 G T SNP IL7R ENST00000303115 human ensembl 74_37 +1 known nonsense c.688 p.E230* 0.808 superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 48 0 0.00 33 3 8.33 INF2 0 genome.wustl.edu 37 14 105173814 105173814 + Missense_Mutation SNP A A G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 105173814 105173814 A G SNP INF2 ENST00000392634 human ensembl 74_37 +1 known missense c.1210 p.S404G 0.012 NULL pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,pfam_WH2_dom,superfamily_ARM-type_fold,smart_FH2_Formin,pfscan_WH2_dom - no_errors INF2 HGNC ENSG00000203485 82 0 0.00 49 3 5.77 IP6K2 0 genome.wustl.edu 37 3 48732632 48732632 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 48732632 48732632 G A SNP IP6K2 ENST00000328631 human ensembl 74_37 -1 known silent c.93 p.C31 0.631 NULL pfam_IPK - no_errors IP6K2 HGNC ENSG00000068745 76 0 0.00 49 3 5.77 ITIH5 0 genome.wustl.edu 37 10 7605279 7605279 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 7605279 7605279 G T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.2596 p.P866T 0.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 40 0 0.00 29 5 14.71 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42138474 42138474 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 42138474 42138474 C A SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known silent c.2367 p.T789 0.437 superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 44 0 0.00 38 4 9.52 KAT6B 0 genome.wustl.edu 37 10 76781836 76781836 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 76781836 76781836 G A SNP KAT6B ENST00000287239 human ensembl 74_37 +1 known silent c.3219 p.E1073 0.928 NULL 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 24 0 0.00 27 3 10.00 KATNB1 0 genome.wustl.edu 37 16 57789109 57789109 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 57789109 57789109 C T SNP KATNB1 ENST00000379661 human ensembl 74_37 +1 known missense c.1375 p.R459W 0.411 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors KATNB1 HGNC ENSG00000140854 45 0 0.00 46 4 8.00 KCNG4 0 genome.wustl.edu 37 16 84256561 84256561 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 84256561 84256561 G A SNP KCNG4 ENST00000308251 human ensembl 74_37 -1 known silent c.822 p.S274 0.989 pfam_Ion_trans_dom,prints_K_chnl pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG4 HGNC ENSG00000168418 tier1 - - 61 0 0.00 54 4 6.90 KCNK5 0 genome.wustl.edu 37 6 39196767 39196767 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 39196767 39196767 G T SNP KCNK5 ENST00000359534 human ensembl 74_37 -1 known missense c.121 p.Q41K 0.218 NULL pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK - no_errors KCNK5 HGNC ENSG00000164626 52 0 0.00 47 3 6.00 KCTD5 0 genome.wustl.edu 37 16 2752446 2752446 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 2752446 2752446 C T SNP KCTD5 ENST00000564195 human ensembl 74_37 +1 putative missense c.550 p.R184W 0.996 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD5 HGNC ENSG00000167977 tier1 - - 61 0 0.00 38 4 9.52 KDM1B 0 genome.wustl.edu 37 6 18218058 18218058 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 18218058 18218058 G T SNP KDM1B ENST00000388870 human ensembl 74_37 +1 known missense c.2330 p.G777V 1.000 pfam_Amino_oxidase pfam_Amino_oxidase,pfam_Znf_CW,pfam_FAD-dep_OxRdtase,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_SWIRM,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_mOase_FAD-bd,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,superfamily_Homeodomain-like,pfscan_SWIRM,pfscan_Znf_CW - no_errors KDM1B HGNC ENSG00000165097 tier1 - - 97 0 0.00 61 4 6.15 KIAA0247 0 genome.wustl.edu 37 14 70170227 70170227 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 70170227 70170227 G T SNP KIAA0247 ENST00000342745 human ensembl 74_37 +1 known missense c.237 p.M79I 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors KIAA0247 HGNC ENSG00000100647 tier1 - - 100 0 0.00 48 4 7.69 KIAA0355 0 genome.wustl.edu 37 19 34818996 34818996 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 34818996 34818996 G A SNP KIAA0355 ENST00000299505 human ensembl 74_37 +1 known silent c.1044 p.S348 0.043 NULL NULL - no_errors KIAA0355 HGNC ENSG00000166398 57 0 0.00 74 4 5.13 KIAA1109 0 genome.wustl.edu 37 4 123270345 123270345 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 123270345 123270345 G A SNP KIAA1109 ENST00000264501 human ensembl 74_37 +1 known missense c.13313 p.R4438H 1.000 pfam_Fragile_site-assoc_C pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 60 0 0.00 29 2 6.45 KIAA1551 0 genome.wustl.edu 37 12 32136925 32136925 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 32136925 32136925 G A SNP KIAA1551 ENST00000312561 human ensembl 74_37 +1 known silent c.3036 p.S1012 0.000 NULL NULL - no_errors KIAA1551 HGNC ENSG00000174718 tier1 - - 48 0 0.00 46 4 8.00 KIF13A 0 genome.wustl.edu 37 6 17783895 17783895 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 17783895 17783895 G T SNP KIF13A ENST00000259711 human ensembl 74_37 -1 known missense c.3526 p.L1176I 1.000 pfam_Kinesin-like pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 tier1 - - 60 0 0.00 37 4 9.76 KIF2B 0 genome.wustl.edu 37 17 51901324 51901324 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 51901324 51901324 G A SNP KIF2B ENST00000268919 human ensembl 74_37 +1 known silent c.930 p.T310 0.357 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF2B HGNC ENSG00000141200 38 0 0.00 39 3 7.14 KIRREL3 0 genome.wustl.edu 37 11 126310353 126310353 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 126310353 126310353 C A SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known silent c.1344 p.P448 0.044 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 51 0 0.00 33 4 10.81 LAMA1 0 genome.wustl.edu 37 18 6948417 6948417 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 6948417 6948417 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.8695 p.G2899R 1.000 superfamily_ConA-like_lec_gl_sf,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 60 0 0.00 42 22 34.38 LAMC3 0 genome.wustl.edu 37 9 133967312 133967313 + RNA INS - - CC TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 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 22 0 0.00 25 4 13.79 LCE4A 0 genome.wustl.edu 37 1 152681755 152681755 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 152681755 152681755 C A SNP LCE4A ENST00000335535 human ensembl 74_37 +1 known silent c.204 p.S68 0.000 NULL NULL - no_errors LCE4A HGNC ENSG00000187170 tier1 - - 51 0 0.00 57 4 6.56 LCT 0 genome.wustl.edu 37 2 136570244 136570244 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 136570244 136570244 G T SNP LCT ENST00000264162 human ensembl 74_37 -1 known missense c.1990 p.P664T 1.000 pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1 - no_errors LCT HGNC ENSG00000115850 68 0 0.00 61 4 6.15 LIMA1 0 genome.wustl.edu 37 12 50616100 50616100 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 50616100 50616100 C T SNP LIMA1 ENST00000394943 human ensembl 74_37 -1 known missense c.334 p.A112T 0.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LIMA1 HGNC ENSG00000050405 62 0 0.00 51 3 5.56 LINC00242 0 genome.wustl.edu 37 6 170190616 170190616 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 170190616 170190616 G T SNP LINC00242 ENST00000437615 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00242 HGNC ENSG00000229214 tier1 - - 49 0 0.00 57 4 6.56 LOC101927516 0 genome.wustl.edu 37 4 141055513 141055513 + RNA SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 141055513 141055513 C A SNP LOC101927516 ENST00000509184 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-392B6.1 Clone_based_vega_gene ENSG00000250698 tier1 - - 56 0 0.00 45 5 10.00 LOC101929664 0 genome.wustl.edu 37 22 30405136 30405136 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 22 30405136 30405136 G T SNP LOC101929664 ENST00000429350 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CTA-85E5.10 Clone_based_vega_gene ENSG00000227117 tier1 - - 55 0 0.00 56 4 6.67 LOC101929948 0 genome.wustl.edu 37 14 19563232 19563232 + RNA SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 19563232 19563232 T C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.050 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 tier1 - - 35 0 0.00 14 4 22.22 LOC400891 0 genome.wustl.edu 37 22 21409444 21409444 + Frame_Shift_Del DEL C C - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 22 21409444 21409444 C - DEL LOC400891 ENST00000342608 human ensembl 74_37 +1 known frame_shift_del c.906 p.Q303fs 1.000 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors AC002472.13 Clone_based_vega_gene ENSG00000187905 tier1 23 0 0.00 5 2 28.57 LPCAT3 0 genome.wustl.edu 37 12 7088683 7088683 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 7088683 7088683 G T SNP LPCAT3 ENST00000261407 human ensembl 74_37 -1 known missense c.736 p.L246M 0.598 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors LPCAT3 HGNC ENSG00000111684 tier1 - - 40 0 0.00 35 4 10.26 LRP2 0 genome.wustl.edu 37 2 170053495 170053495 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 170053495 170053495 C T SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known missense c.8624 p.R2875H 0.007 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 80 0 0.00 58 4 6.35 LRRC3C 0 genome.wustl.edu 37 17 38100505 38100505 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 38100505 38100505 G A SNP LRRC3C ENST00000377924 human ensembl 74_37 +1 known missense c.346 p.A116T 0.014 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC3C HGNC ENSG00000204913 tier1 - - 49 0 0.00 179 23 11.33 LTF 0 genome.wustl.edu 37 3 46497888 46497888 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 46497888 46497888 C T SNP LTF ENST00000231751 human ensembl 74_37 -1 known missense c.208 p.E70K 0.007 pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam pfam_Transferrin_fam,smart_Transferrin_fam,pirsf_Transferrin,prints_Transferrin_fam - no_errors LTF HGNC ENSG00000012223 76 0 0.00 32 2 5.88 LZTR1 0 genome.wustl.edu 37 22 21350282 21350282 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 22 21350282 21350282 G T SNP LZTR1 ENST00000215739 human ensembl 74_37 +1 known missense c.2100 p.M700I 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_Kelch_1,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors LZTR1 HGNC ENSG00000099949 44 0 0.00 49 3 5.77 MAGEE1 0 genome.wustl.edu 37 X 75648431 75648431 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda X 75648431 75648431 C T SNP MAGEE1 ENST00000361470 human ensembl 74_37 +1 known silent c.108 p.L36 0.001 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 tier1 - - 95 0 0.00 19 51 72.86 MAPK15 0 genome.wustl.edu 37 8 144802413 144802413 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 144802413 144802413 C T SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known silent c.735 p.L245 0.054 pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK15 HGNC ENSG00000181085 tier1 rs147473272 - 37 0 0.00 58 26 30.95 MAPK15 0 genome.wustl.edu 37 8 144801009 144801009 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 144801009 144801009 C T SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known silent c.351 p.I117 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK15 HGNC ENSG00000181085 10 0 0.00 23 5 17.86 MAPK15 0 genome.wustl.edu 37 8 144801012 144801012 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 144801012 144801012 C T SNP MAPK15 ENST00000338033 human ensembl 74_37 +1 known silent c.354 p.F118 0.980 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors MAPK15 HGNC ENSG00000181085 10 0 0.00 20 6 22.22 MAPK8IP3 0 genome.wustl.edu 37 16 1817269 1817269 + Missense_Mutation SNP G G C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 1817269 1817269 G C SNP MAPK8IP3 ENST00000250894 human ensembl 74_37 +1 known missense c.3205 p.V1069L 1.000 superfamily_WD40_repeat_dom pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors MAPK8IP3 HGNC ENSG00000138834 tier1 - - 152 0 0.00 90 39 30.00 MDFIC 0 genome.wustl.edu 37 7 114619652 114619652 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 114619652 114619652 G T SNP MDFIC ENST00000393486 human ensembl 74_37 +1 known silent c.309 p.L103 1.000 NULL NULL - no_errors MDFIC HGNC ENSG00000135272 83 0 0.00 82 5 5.75 MED4 0 genome.wustl.edu 37 13 48654029 48654029 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 13 48654029 48654029 G T SNP MED4 ENST00000258648 human ensembl 74_37 -1 known silent c.591 p.G197 0.833 pfam_Mediator_Med4 pfam_Mediator_Med4 - no_errors MED4 HGNC ENSG00000136146 92 0 0.00 56 3 5.08 MEX3C 0 genome.wustl.edu 37 18 48703496 48703496 + Missense_Mutation SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 48703496 48703496 T C SNP MEX3C ENST00000406189 human ensembl 74_37 -1 known missense c.1205 p.N402S 0.997 NULL pfam_KH_dom_type_1,smart_KH_dom,smart_Znf_RING,pfscan_Znf_RING,pfscan_KH_dom_type_1 - no_errors MEX3C HGNC ENSG00000176624 tier1 - - 43 0 0.00 41 20 32.79 MLF2 0 genome.wustl.edu 37 12 6859859 6859859 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 6859859 6859859 G T SNP MLF2 ENST00000564181 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MLF2 HGNC ENSG00000089693 tier1 - - 39 0 0.00 55 4 6.78 MMEL1 0 genome.wustl.edu 37 1 2542738 2542738 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 2542738 2542738 G A SNP MMEL1 ENST00000378412 human ensembl 74_37 -1 known missense c.274 p.P92S 0.989 NULL pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors MMEL1 HGNC ENSG00000142606 tier1 - - 21 0 0.00 10 11 50.00 MON2 0 genome.wustl.edu 37 12 62960230 62960230 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 62960230 62960230 G T SNP MON2 ENST00000393630 human ensembl 74_37 +1 known missense c.4326 p.K1442N 1.000 superfamily_ARM-type_fold pfam_DUF1981_Sec7_assoc,superfamily_ARM-type_fold - no_errors MON2 HGNC ENSG00000061987 tier1 - - 81 0 0.00 65 4 5.80 MROH2B 0 genome.wustl.edu 37 5 41058239 41058239 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 41058239 41058239 C T SNP MROH2B ENST00000399564 human ensembl 74_37 -1 known missense c.682 p.G228R 0.364 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH2B HGNC ENSG00000171495 70 0 0.00 45 3 6.25 MRPS18B 0 genome.wustl.edu 37 6 30593315 30593315 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 30593315 30593315 G T SNP MRPS18B ENST00000259873 human ensembl 74_37 +1 known missense c.518 p.R173L 1.000 NULL pfam_Ribosomal_S18,superfamily_Ribosomal_S18 - no_errors MRPS18B HGNC ENSG00000204568 96 0 0.00 55 3 5.17 MUC16 0 genome.wustl.edu 37 19 9059174 9059174 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 9059174 9059174 C T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.28272 p.P9424 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 91 0 0.00 76 4 5.00 MUC16 0 genome.wustl.edu 37 19 9059772 9059772 + Missense_Mutation SNP A A G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 9059772 9059772 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.27674 p.M9225T 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 64 0 0.00 45 8 15.09 MYH15 0 genome.wustl.edu 37 3 108107869 108107869 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 108107869 108107869 G T SNP MYH15 ENST00000273353 human ensembl 74_37 -1 known missense c.5543 p.A1848D 0.005 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 tier1 - - 86 0 0.00 59 4 6.35 MYH6 0 genome.wustl.edu 37 14 23874914 23874914 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 23874914 23874914 G A SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known silent c.267 p.D89 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_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 - - 91 0 0.00 42 24 36.36 MYRFL 0 genome.wustl.edu 37 12 70345895 70345895 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 70345895 70345895 G T SNP MYRFL ENST00000547771 human ensembl 74_37 +1 putative splice_site c.2192-1 e20-1 0.177 - - - no_errors MYRFL HGNC ENSG00000166268 tier1 - - 61 0 0.00 50 5 9.09 NCOA4 0 genome.wustl.edu 37 10 51586330 51586330 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 51586330 51586330 C T SNP NCOA4 ENST00000374082 human ensembl 74_37 +1 novel missense c.1622 p.A541V 1.000 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 tier1 - - 88 0 0.00 67 5 6.94 NCOR2 0 genome.wustl.edu 37 12 124819756 124819756 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 124819756 124819756 C T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known silent c.6357 p.S2119 0.482 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 tier1 - - 47 0 0.00 31 4 11.43 NKAPL 0 genome.wustl.edu 37 6 28227844 28227844 + Missense_Mutation SNP A A G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 28227844 28227844 A G SNP NKAPL ENST00000343684 human ensembl 74_37 +1 known missense c.695 p.K232R 1.000 NULL pfam_DUF926 - no_errors NKAPL HGNC ENSG00000189134 tier1 - - 59 0 0.00 38 4 9.52 NLGN2 0 genome.wustl.edu 37 17 7311939 7311939 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 7311939 7311939 G T SNP NLGN2 ENST00000302926 human ensembl 74_37 +1 known missense c.365 p.W122L 1.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin - no_errors NLGN2 HGNC ENSG00000169992 tier1 - - 79 0 0.00 62 4 6.06 NMT1 0 genome.wustl.edu 37 17 43180436 43180436 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 43180436 43180436 G T SNP NMT1 ENST00000258960 human ensembl 74_37 +1 known missense c.1111 p.V371L 1.000 pfam_MyristoylCoA_TrFase_C,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase pfam_MyristoylCoA_TrFase_C,pfam_MyristoylCoA_TrFase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_MyristoylCoA_TrFase - no_errors NMT1 HGNC ENSG00000136448 tier1 - - 93 0 0.00 54 4 6.90 NPIPA1 0 genome.wustl.edu 37 16 15045675 15045675 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 15045675 15045675 G A SNP NPIPA1 ENST00000328085 human ensembl 74_37 +1 novel silent c.846 p.A282 0.080 NULL NULL - no_errors NPIPA1 HGNC ENSG00000183426 80 0 0.00 49 4 7.55 NPR3 0 genome.wustl.edu 37 5 32711915 32711915 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 32711915 32711915 G T SNP NPR3 ENST00000265074 human ensembl 74_37 +1 known silent c.33 p.P11 0.951 NULL pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_Ntpep_rcpt - no_errors NPR3 HGNC ENSG00000113389 tier1 - - 61 0 0.00 44 4 8.33 OBFC1 0 genome.wustl.edu 37 10 105659926 105659927 + Frame_Shift_Ins INS - - TGTA TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 105659926 105659927 - TGTA INS OBFC1 ENST00000224950 human ensembl 74_37 -1 known frame_shift_ins c.351_350 p.Q117fs 1.000:1.000 pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 pfam_CST_STN1_C,pfam_NA-bd_OB_tRNA,superfamily_NA-bd_OB-fold,pirsf_CST_STN1 - no_errors OBFC1 HGNC ENSG00000107960 tier1 48 0 0.00 51 13 20.31 OR4C15 0 genome.wustl.edu 37 11 55322152 55322152 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 55322152 55322152 G T SNP OR4C15 ENST00000314644 human ensembl 74_37 +1 known missense c.370 p.A124S 0.955 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C15 HGNC ENSG00000181939 46 0 0.00 49 3 5.77 OR4D2 0 genome.wustl.edu 37 17 56247817 56247817 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 56247817 56247817 G T SNP OR4D2 ENST00000545221 human ensembl 74_37 +1 known missense c.801 p.M267I 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D2 HGNC ENSG00000255713 tier1 - - 74 0 0.00 54 4 6.90 OR4N4 0 genome.wustl.edu 37 15 22382670 22382670 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 22382670 22382670 G T SNP OR4N4 ENST00000328795 human ensembl 74_37 +1 known missense c.198 p.L66F 1.000 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 OR4N4 HGNC ENSG00000183706 tier1 - - 115 0 0.00 84 23 21.30 OR6Y1 0 genome.wustl.edu 37 1 158517559 158517559 + Missense_Mutation SNP C C G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 158517559 158517559 C G SNP OR6Y1 ENST00000302617 human ensembl 74_37 -1 known missense c.337 p.V113L 0.010 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 OR6Y1 HGNC ENSG00000197532 tier1 - - 40 0 0.00 14 27 65.85 OR9A2 0 genome.wustl.edu 37 7 142723727 142723727 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 142723727 142723727 G A SNP OR9A2 ENST00000350513 human ensembl 74_37 -1 known missense c.493 p.R165C 0.996 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR9A2 HGNC ENSG00000179468 67 0 0.00 56 4 6.56 PAXIP1 0 genome.wustl.edu 37 7 154760609 154760611 + In_Frame_Del DEL CTG CTG - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 CTG CTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 154760609 154760611 CTG - DEL PAXIP1 ENST00000397192 human ensembl 74_37 -1 known in_frame_del c.1302_1300 p.Q434in_frame_del 0.998:0.998:0.999 NULL pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PAXIP1 HGNC ENSG00000157212 tier1 27 0 0.00 26 3 10.34 PCDHB2 0 genome.wustl.edu 37 5 140475148 140475148 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 140475148 140475148 C T SNP PCDHB2 ENST00000194155 human ensembl 74_37 +1 known silent c.774 p.P258 0.000 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB2 HGNC ENSG00000112852 tier1 - - 58 0 0.00 29 7 19.44 PCSK5 0 genome.wustl.edu 37 9 78842492 78842492 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 78842492 78842492 G T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.2700 p.Q900H 0.838 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 tier1 - - 58 0 0.00 62 4 6.06 PDE9A 0 genome.wustl.edu 37 21 44189167 44189167 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 21 44189167 44189167 G T SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.1492 p.V498L 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 tier1 - - 68 0 0.00 61 4 6.15 PDP1 0 genome.wustl.edu 37 8 94935236 94935236 + Nonsense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 94935236 94935236 C T SNP PDP1 ENST00000396200 human ensembl 74_37 +1 known nonsense c.1024 p.Q342* 1.000 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 PDP1 HGNC ENSG00000164951 tier1 - - 33 0 0.00 22 5 18.52 PFKFB2 0 genome.wustl.edu 37 1 207252357 207252357 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 207252357 207252357 C A SNP PFKFB2 ENST00000367079 human ensembl 74_37 +1 known missense c.1409 p.P470H 0.000 NULL pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,superfamily_P-loop_NTPase,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB2 HGNC ENSG00000123836 tier1 - - 44 0 0.00 50 4 7.41 PGLS 0 genome.wustl.edu 37 19 17628644 17628644 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 17628644 17628644 G T SNP PGLS ENST00000252603 human ensembl 74_37 +1 known missense c.624 p.K208N 1.000 tigrfam_6-phosphogluconolactonase_DevB tigrfam_6-phosphogluconolactonase_DevB - no_errors PGLS HGNC ENSG00000130313 88 0 0.00 64 4 5.88 PHLPP1 0 genome.wustl.edu 37 18 60646275 60646275 + Nonsense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 60646275 60646275 G T SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known nonsense c.4765 p.E1589* 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 34 0 0.00 49 4 7.55 PI4KA 0 genome.wustl.edu 37 22 21097024 21097024 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 22 21097024 21097024 G T SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.3485 p.T1162N 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 77 0 0.00 49 3 5.77 PIR 0 genome.wustl.edu 37 X 15474054 15474054 + Nonsense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda X 15474054 15474054 C A SNP PIR ENST00000380420 human ensembl 74_37 -1 known nonsense c.397 p.E133* 1.000 superfamily_RmlC_Cupin,pirsf_Pirin pfam_Pirin_C_dom,pfam_Pirin_N_dom,superfamily_RmlC_Cupin,pirsf_Pirin - no_errors PIR HGNC ENSG00000087842 tier1 - - 39 0 0.00 21 3 12.50 PLD1 0 genome.wustl.edu 37 3 171453400 171453400 + Nonsense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 171453400 171453400 C A SNP PLD1 ENST00000351298 human ensembl 74_37 -1 known nonsense c.316 p.E106* 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pirsf_PLipase_D_euk,pfscan_Phox pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD1 HGNC ENSG00000075651 tier1 - - 78 0 0.00 91 5 5.21 PLD5 0 genome.wustl.edu 37 1 242271092 242271092 + Nonsense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 242271092 242271092 G A SNP PLD5 ENST00000536534 human ensembl 74_37 -1 known nonsense c.1120 p.R374* 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 tier1 - - 109 0 0.00 24 87 78.38 PLVAP 0 genome.wustl.edu 37 19 17487876 17487876 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 17487876 17487876 G T SNP PLVAP ENST00000252590 human ensembl 74_37 -1 known silent c.222 p.L74 0.000 pfam_PV-1 pfam_PV-1 - no_errors PLVAP HGNC ENSG00000130300 tier1 - - 66 0 0.00 51 4 7.27 PLXNA4 0 genome.wustl.edu 37 7 131870107 131870107 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 131870107 131870107 C T SNP PLXNA4 ENST00000321063 human ensembl 74_37 -1 known missense c.3109 p.V1037M 0.988 superfamily_Ig_E-set,smart_IPT pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNA4 HGNC ENSG00000221866 tier1 - - 74 0 0.00 31 47 60.26 PLXND1 0 genome.wustl.edu 37 3 129286546 129286546 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 129286546 129286546 C T SNP PLXND1 ENST00000324093 human ensembl 74_37 -1 known missense c.3968 p.R1323H 0.998 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXND1 HGNC ENSG00000004399 tier1 - - 61 0 0.00 36 12 25.00 PMAIP1 0 genome.wustl.edu 37 18 57569920 57569920 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 57569920 57569920 G T SNP PMAIP1 ENST00000316660 human ensembl 74_37 +1 known missense c.100 p.D34Y 1.000 NULL NULL - no_errors PMAIP1 HGNC ENSG00000141682 45 0 0.00 62 4 6.06 PODXL2 0 genome.wustl.edu 37 3 127379570 127379570 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 127379570 127379570 G T SNP PODXL2 ENST00000342480 human ensembl 74_37 +1 known silent c.699 p.V233 0.741 NULL pfam_CD34/Podocalyxin - no_errors PODXL2 HGNC ENSG00000114631 tier1 - - 67 0 0.00 54 4 6.90 POGK 0 genome.wustl.edu 37 1 166810311 166810311 + Missense_Mutation SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 166810311 166810311 T C SNP POGK ENST00000367875 human ensembl 74_37 +1 known missense c.118 p.S40P 0.974 superfamily_Krueppel-associated_box pfam_DDE_SF_endonuclease_CENPB-like,pfam_Brinker_DNA-bd,pfam_HTH_CenpB_DNA-bd_dom,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,superfamily_Homeodomain-like,smart_Krueppel-associated_box,smart_HTH_CenpB_DNA-bd_dom,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel - no_errors POGK HGNC ENSG00000143157 tier1 - - 56 0 0.00 4 21 84.00 PPP1R18 0 genome.wustl.edu 37 6 30653319 30653319 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 30653319 30653319 G T SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known silent c.477 p.A159 0.003 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 40 0 0.00 15 2 11.76 PPP2CB 0 genome.wustl.edu 37 8 30643645 30643645 + RNA SNP T T A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 30643645 30643645 T A SNP PPP2CB ENST00000522113 human ensembl 74_37 -1 putative rna NULL NULL 0.999 - - - no_errors PPP2CB HGNC ENSG00000104695 tier1 - - 81 0 0.00 49 19 27.94 PPP2CB 0 genome.wustl.edu 37 8 30643971 30643971 + RNA SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 30643971 30643971 C T SNP PPP2CB ENST00000522113 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors PPP2CB HGNC ENSG00000104695 tier1 - - 8 0 0.00 4 8 66.67 PRDM5 0 genome.wustl.edu 37 4 121737990 121737990 + Nonsense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 121737990 121737990 G T SNP PRDM5 ENST00000264808 human ensembl 74_37 -1 known nonsense c.740 p.S247* 0.993 smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM5 HGNC ENSG00000138738 66 0 0.00 57 3 5.00 PSME4 0 genome.wustl.edu 37 2 54092485 54092486 + RNA INS - - A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 54092485 54092486 - A INS PSME4 ENST00000476586 human ensembl 74_37 -1 known rna NULL NULL 0.999:0.998 - - - no_errors PSME4 HGNC ENSG00000068878 tier1 15 0 0.00 15 5 25.00 PTPRC 0 genome.wustl.edu 37 1 198711434 198711434 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 198711434 198711434 G T SNP PTPRC ENST00000442510 human ensembl 74_37 +1 known missense c.2635 p.V879L 1.000 pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRC HGNC ENSG00000081237 tier1 - - 94 0 0.00 73 4 5.19 PTPRH 0 genome.wustl.edu 37 19 55697657 55697657 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 55697657 55697657 C T SNP PTPRH ENST00000376350 human ensembl 74_37 -1 known missense c.2714 p.R905H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt 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 PTPRH HGNC ENSG00000080031 tier1 - - 66 0 0.00 75 5 6.25 RAX 0 genome.wustl.edu 37 18 56939807 56939807 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 56939807 56939807 C T SNP RAX ENST00000334889 human ensembl 74_37 -1 known missense c.329 p.R110Q 0.304 NULL pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors RAX HGNC ENSG00000134438 tier1 - - 66 0 0.00 58 12 17.14 RBCK1 0 genome.wustl.edu 37 20 409671 409671 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 20 409671 409671 G T SNP RBCK1 ENST00000356286 human ensembl 74_37 +1 known missense c.1385 p.W462L 1.000 pfam_Znf_C6HC pfam_Znf_C6HC,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Znf_RING,pfscan_Znf_RanBP2,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup - no_errors RBCK1 HGNC ENSG00000125826 19 0 0.00 34 4 10.53 RBL2 0 genome.wustl.edu 37 16 53503977 53503977 + Missense_Mutation SNP G G C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 53503977 53503977 G C SNP RBL2 ENST00000262133 human ensembl 74_37 +1 known missense c.2125 p.V709L 0.927 NULL pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RBL2 HGNC ENSG00000103479 tier1 - - 84 0 0.00 35 25 41.67 RBM11 0 genome.wustl.edu 37 21 15596828 15596828 + Silent SNP A A G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 21 15596828 15596828 A G SNP RBM11 ENST00000400577 human ensembl 74_37 +1 known silent c.402 p.L134 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM11 HGNC ENSG00000185272 tier1 - - 49 0 0.00 22 13 37.14 RBM46 0 genome.wustl.edu 37 4 155749035 155749035 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 155749035 155749035 G T SNP RBM46 ENST00000281722 human ensembl 74_37 +1 known missense c.1418 p.R473L 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM46 HGNC ENSG00000151962 41 0 0.00 38 2 5.00 RBMX2 0 genome.wustl.edu 37 X 129546511 129546511 + Nonsense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda X 129546511 129546511 G T SNP RBMX2 ENST00000305536 human ensembl 74_37 +1 known nonsense c.658 p.E220* 0.167 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMX2 HGNC ENSG00000134597 tier1 - - 47 0 0.00 35 4 10.26 RBP3 0 genome.wustl.edu 37 10 48382047 48382047 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 48382047 48382047 G A SNP RBP3 ENST00000224600 human ensembl 74_37 -1 known missense c.3602 p.S1201L 0.000 pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd - no_errors RBP3 HGNC ENSG00000107618 tier1 - - 82 0 0.00 30 22 42.31 RFX2 0 genome.wustl.edu 37 19 6001944 6001944 + Missense_Mutation SNP G G C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 6001944 6001944 G C SNP RFX2 ENST00000303657 human ensembl 74_37 -1 known missense c.1741 p.L581V 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX2 HGNC ENSG00000087903 tier1 - - 93 0 0.00 76 18 19.15 RHOBTB2 0 genome.wustl.edu 37 8 22852126 22852126 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 22852126 22852126 C T SNP RHOBTB2 ENST00000519685 human ensembl 74_37 +1 putative silent c.30 p.G10 0.017 NULL pfam_BTB_POZ,pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,superfamily_BTB/POZ_fold,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_BTB/POZ-like,pfscan_BTB/POZ-like,prints_Small_GTPase - no_errors RHOBTB2 HGNC ENSG00000008853 tier1 - - 68 0 0.00 35 4 10.26 RIMS2 0 genome.wustl.edu 37 8 105001565 105001565 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 105001565 105001565 G T SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.2960 p.R987L 0.981 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 143 0 0.00 85 5 5.56 RIN2 0 genome.wustl.edu 37 20 19956379 19956379 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 20 19956379 19956379 G T SNP RIN2 ENST00000255006 human ensembl 74_37 +1 known missense c.1857 p.Q619H 1.000 NULL pfam_VPS9,pfam_Ras-assoc,smart_VPS9_subgr,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN2 HGNC ENSG00000132669 66 0 0.00 72 4 5.26 RNF126 0 genome.wustl.edu 37 19 651750 651750 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 651750 651750 C T SNP RNF126 ENST00000292363 human ensembl 74_37 -1 known missense c.304 p.A102T 0.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF126 HGNC ENSG00000070423 tier1 - - 52 0 0.00 33 4 10.81 RPL4 0 genome.wustl.edu 37 15 66791958 66791958 + Silent SNP T T G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 66791958 66791958 T G SNP RPL4 ENST00000307961 human ensembl 74_37 -1 known silent c.1071 p.A357 0.000 NULL pfam_Ribosomal_L4/L1e,superfamily_Ribosomal_L4_dom - no_errors RPL4 HGNC ENSG00000174444 tier1 - - 63 0 0.00 34 22 38.60 RPS3A 0 genome.wustl.edu 37 4 152020849 152020849 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 152020849 152020849 G A SNP RPS3A ENST00000274065 human ensembl 74_37 +1 known silent c.45 p.K15 1.000 pfam_Ribosomal_S3Ae pfam_Ribosomal_S3Ae - no_errors RPS3A HGNC ENSG00000145425 tier1 - - 90 0 0.00 54 16 22.86 RSF1 0 genome.wustl.edu 37 11 77386180 77386180 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 77386180 77386180 G A SNP RSF1 ENST00000308488 human ensembl 74_37 -1 known missense c.3463 p.P1155S 1.000 NULL pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors RSF1 HGNC ENSG00000048649 tier1 - - 58 0 0.00 54 4 6.90 RXFP2 0 genome.wustl.edu 37 13 32348756 32348756 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 13 32348756 32348756 G T SNP RXFP2 ENST00000298386 human ensembl 74_37 +1 known splice_site c.498-1 e6-1 1.000 - - - no_errors RXFP2 HGNC ENSG00000133105 tier1 - - 35 0 0.00 24 3 11.11 RYR1 0 genome.wustl.edu 37 19 38990574 38990574 + Missense_Mutation SNP A A C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 38990574 38990574 A C SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.7241 p.N2414T 1.000 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 40 0 0.00 37 2 5.13 RYR3 0 genome.wustl.edu 37 15 34115234 34115234 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 34115234 34115234 G T SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known missense c.11033 p.G3678V 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 73 0 0.00 72 5 6.49 SACM1L 0 genome.wustl.edu 37 3 45776840 45776840 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 45776840 45776840 G A SNP SACM1L ENST00000389061 human ensembl 74_37 +1 known missense c.1214 p.R405H 0.983 pfscan_Syja_N pfam_Syja_N,pfscan_Syja_N - no_errors SACM1L HGNC ENSG00000211456 tier1 - - 89 0 0.00 58 20 25.64 SCN11A 0 genome.wustl.edu 37 3 38913192 38913194 + In_Frame_Del DEL ACC ACC - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 ACC ACC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 38913192 38913194 ACC - DEL SCN11A ENST00000302328 human ensembl 74_37 -1 known in_frame_del c.3503_3501 p.V1168in_frame_del 1.000:1.000:0.039 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 tier1 56 0 0.00 24 12 33.33 SCN7A 0 genome.wustl.edu 37 2 167279905 167279906 + Frame_Shift_Ins INS - - T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 167279905 167279906 - T INS SCN7A ENST00000409855 human ensembl 74_37 -1 known frame_shift_ins c.2891_2890 p.I964fs 1.000:0.999 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 86 0 0.00 33 19 36.54 SCN7A 0 genome.wustl.edu 37 2 167279908 167279908 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 167279908 167279908 G A SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.2888 p.T963I 1.000 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 86 0 0.00 26 22 45.83 SDK2 0 genome.wustl.edu 37 17 71382003 71382003 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 71382003 71382003 C T SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.4552 p.V1518M 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 51 0 0.00 36 4 10.00 SESTD1 0 genome.wustl.edu 37 2 180047847 180047847 + Nonsense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 180047847 180047847 C A SNP SESTD1 ENST00000428443 human ensembl 74_37 -1 known nonsense c.124 p.E42* 1.000 superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom superfamily_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors SESTD1 HGNC ENSG00000187231 tier1 - - 45 0 0.00 34 20 37.04 SETBP1 0 genome.wustl.edu 37 18 42643578 42643578 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 42643578 42643578 C T SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.4706 p.P1569L 0.954 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 12 0 0.00 6 5 45.45 SH3TC2 0 genome.wustl.edu 37 5 148407138 148407138 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 148407138 148407138 G T SNP SH3TC2 ENST00000515425 human ensembl 74_37 -1 known silent c.2157 p.T719 0.024 NULL pfam_SH3_domain,pfam_TPR_1,superfamily_SH3_domain,smart_SH3_domain,smart_TPR_repeat,pfscan_SH3_domain - no_errors SH3TC2 HGNC ENSG00000169247 tier1 - - 112 0 0.00 58 4 6.45 SIGLEC8 0 genome.wustl.edu 37 19 51958907 51958907 + Silent SNP T T C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 51958907 51958907 T C SNP SIGLEC8 ENST00000321424 human ensembl 74_37 -1 known silent c.816 p.S272 0.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC8 HGNC ENSG00000105366 tier1 - - 58 0 0.00 50 4 7.41 SIGLEC9 0 genome.wustl.edu 37 19 51629013 51629013 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 51629013 51629013 G A SNP SIGLEC9 ENST00000440804 human ensembl 74_37 +1 known missense c.581 p.R194H 0.001 pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,pfscan_Ig-like_dom - no_errors SIGLEC9 HGNC ENSG00000129450 tier1 - - 58 0 0.00 49 16 24.62 SLC22A24 0 genome.wustl.edu 37 11 62886453 62886453 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 62886453 62886453 G A SNP SLC22A24 ENST00000326192 human ensembl 74_37 -1 known missense c.761 p.A254V 0.445 pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 tier1 - - 46 0 0.00 20 24 54.55 SLC6A10P 0 genome.wustl.edu 37 16 32893871 32893871 + RNA SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 32893871 32893871 G A SNP SLC6A10P ENST00000330048 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors SLC6A10P HGNC ENSG00000214617 tier1 - - 125 0 0.00 108 15 12.20 SLC9A1 0 genome.wustl.edu 37 1 27426042 27426043 + RNA DEL AT AT - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 AT AT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 27426042 27426043 AT - DEL SLC9A1 ENST00000490329 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors SLC9A1 HGNC ENSG00000090020 tier1 59 0 0.00 35 5 12.50 SMARCA4 0 genome.wustl.edu 37 19 11134230 11134230 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 11134230 11134230 C T SNP SMARCA4 ENST00000358026 human ensembl 74_37 +1 known missense c.2896 p.R966W 1.000 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,prints_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain - no_errors SMARCA4 HGNC ENSG00000127616 tier1 - - 130 0 0.00 37 66 64.08 SMARCAL1 0 genome.wustl.edu 37 2 217315721 217315721 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 217315721 217315721 G T SNP SMARCAL1 ENST00000357276 human ensembl 74_37 +1 known silent c.2004 p.R668 0.976 pfam_SNF2_N,superfamily_P-loop_NTPase pfam_HARP_dom,pfam_SNF2_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors SMARCAL1 HGNC ENSG00000138375 tier1 - - 56 0 0.00 47 5 9.62 SMC2 0 genome.wustl.edu 37 9 106887225 106887225 + Nonsense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 106887225 106887225 G T SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known nonsense c.2290 p.E764* 1.000 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 52 0 0.00 72 4 5.26 SNX18 0 genome.wustl.edu 37 5 53839223 53839223 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 53839223 53839223 G A SNP SNX18 ENST00000381410 human ensembl 74_37 +1 known silent c.1836 p.Q612 1.000 pfam_Sorting_nexin_WASP-bd-dom,pirsf_Snx9 pfam_Sorting_nexin_WASP-bd-dom,pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_SH3_domain,smart_Phox,pirsf_Snx9,pfscan_Phox,pfscan_SH3_domain - no_errors SNX18 HGNC ENSG00000178996 89 0 0.00 43 3 6.52 SOCS6 0 genome.wustl.edu 37 18 67992306 67992306 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 18 67992306 67992306 C A SNP SOCS6 ENST00000397942 human ensembl 74_37 +1 known silent c.402 p.P134 0.870 NULL pfam_SOCS_C,pfam_SH2,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2 - no_errors SOCS6 HGNC ENSG00000170677 36 0 0.00 37 3 7.50 SP4 0 genome.wustl.edu 37 7 21469411 21469411 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 21469411 21469411 G T SNP SP4 ENST00000222584 human ensembl 74_37 +1 known missense c.628 p.A210S 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SP4 HGNC ENSG00000105866 45 0 0.00 50 3 5.66 SREBF2 0 genome.wustl.edu 37 22 42262949 42262951 + In_Frame_Del DEL GCA GCA - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 GCA GCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 22 42262949 42262951 GCA - DEL SREBF2 ENST00000361204 human ensembl 74_37 +1 known in_frame_del c.203_205 p.S72in_frame_del 0.037:0.043:0.048 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors SREBF2 HGNC ENSG00000198911 tier1 48 0 0.00 21 3 12.50 SSPO 0 genome.wustl.edu 37 7 149493534 149493534 + RNA SNP A A T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 149493534 149493534 A T SNP SSPO ENST00000378016 human ensembl 74_37 +1 known rna NULL NULL 0.925 - - - no_errors SSPO HGNC ENSG00000197558 38 0 0.00 62 4 6.06 SST 0 genome.wustl.edu 37 3 187388067 187388067 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 3 187388067 187388067 G A SNP SST ENST00000287641 human ensembl 74_37 -1 known missense c.13 p.R5C 1.000 pirsf_Somatostatin pfam_Somatostatin/Cortistatin_C,pirsf_Somatostatin - no_errors SST HGNC ENSG00000157005 tier1 - - 28 0 0.00 26 12 31.58 STAB2 0 genome.wustl.edu 37 12 104126960 104126960 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 104126960 104126960 G T SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.5460 p.K1820N 1.000 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 29 0 0.00 42 4 8.70 STARD9 0 genome.wustl.edu 37 15 42983271 42983271 + Missense_Mutation SNP A A T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 42983271 42983271 A T SNP STARD9 ENST00000290607 human ensembl 74_37 +1 known missense c.9495 p.E3165D 0.030 NULL pfam_Kinesin_motor_dom,pfam_START_lipid-bd_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,pfscan_START_lipid-bd_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors STARD9 HGNC ENSG00000159433 tier1 - - 107 0 0.00 71 10 12.35 STEAP1B 0 genome.wustl.edu 37 7 22532994 22532994 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 7 22532994 22532994 G A SNP STEAP1B ENST00000406890 human ensembl 74_37 -1 known silent c.489 p.Y163 0.986 pfam_Fe3_Rdtase_TM_dom pfam_Fe3_Rdtase_TM_dom - no_errors STEAP1B HGNC ENSG00000105889 tier1 - - 85 0 0.00 75 8 9.64 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808057 48808057 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 48808057 48808057 C A SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known silent c.285 p.P95 0.995 NULL pfam_TFIIA_asu/bsu,pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx,pfscan_Clathrin_mu_C,pfscan_SHD - no_errors STON1-GTF2A1L HGNC ENSG00000068781 tier1 - - 67 0 0.00 63 4 5.97 SULF1 0 genome.wustl.edu 37 8 70541858 70541858 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 70541858 70541858 G T SNP SULF1 ENST00000260128 human ensembl 74_37 +1 known missense c.2228 p.G743V 1.000 superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase pfam_Sulfatase,pfam_Extracellular_sulfatase_C,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core,pirsf_Extracellular_sulfatase - no_errors SULF1 HGNC ENSG00000137573 82 0 0.00 33 2 5.71 SV2A 0 genome.wustl.edu 37 1 149877572 149877572 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 149877572 149877572 G T SNP SV2A ENST00000369146 human ensembl 74_37 -1 known silent c.1905 p.S635 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_SV2 - no_errors SV2A HGNC ENSG00000159164 40 0 0.00 53 3 5.36 SYNE1 0 genome.wustl.edu 37 6 152718109 152718109 + Missense_Mutation SNP A A C TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 152718109 152718109 A C SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.7357 p.L2453V 0.001 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 tier1 - - 71 0 0.00 64 17 20.99 SYT16 0 genome.wustl.edu 37 14 62462802 62462802 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 62462802 62462802 C A SNP SYT16 ENST00000446982 human ensembl 74_37 +1 known missense c.65 p.S22Y 1.000 NULL NULL - no_errors SYT16 HGNC ENSG00000139973 37 0 0.00 29 2 6.45 SYT3 0 genome.wustl.edu 37 19 51135719 51135719 + Silent SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 51135719 51135719 C T SNP SYT3 ENST00000338916 human ensembl 74_37 -1 known silent c.498 p.S166 0.867 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,prints_Synaptotagmin,prints_C2_dom,pfscan_C2_dom - no_errors SYT3 HGNC ENSG00000213023 tier1 - - 68 0 0.00 60 4 6.25 TACC2 0 genome.wustl.edu 37 10 123954677 123954677 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 123954677 123954677 C A SNP TACC2 ENST00000334433 human ensembl 74_37 +1 known missense c.5957 p.P1986H 0.933 NULL pfam_TACC - no_errors TACC2 HGNC ENSG00000138162 71 0 0.00 38 4 9.52 TCOF1 0 genome.wustl.edu 37 5 149754266 149754266 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 149754266 149754266 C A SNP TCOF1 ENST00000451292 human ensembl 74_37 +1 known silent c.1170 p.P390 0.405 pfam_TCS_treacle pfam_TCS_treacle,smart_LisH_dimerisation,pfscan_LisH_dimerisation,prints_Treacle-like_TCS - no_errors TCOF1 HGNC ENSG00000070814 tier1 - - 86 0 0.00 41 4 8.89 TDRD9 0 genome.wustl.edu 37 14 104431746 104431746 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 104431746 104431746 C A SNP TDRD9 ENST00000409874 human ensembl 74_37 +1 known missense c.497 p.P166Q 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_Tudor,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,smart_Tudor,pfscan_Tudor,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TDRD9 HGNC ENSG00000156414 54 0 0.00 43 3 6.52 TH 0 genome.wustl.edu 37 11 2192950 2192950 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 11 2192950 2192950 C T SNP TH ENST00000381178 human ensembl 74_37 -1 known missense c.67 p.A23T 0.999 pfam_Tyrosine_hydroxylase_CS,pirsf_Tyrosine_3-monooxygenase-like pfam_Aromatic-AA_hydroxylase_C,pfam_Tyrosine_hydroxylase_CS,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Tyr_3_mOase - no_errors TH HGNC ENSG00000180176 tier1 rs201081519 - 17 0 0.00 6 5 45.45 TIMELESS 0 genome.wustl.edu 37 12 56815969 56815969 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 56815969 56815969 G A SNP TIMELESS ENST00000553532 human ensembl 74_37 -1 known silent c.2445 p.S815 0.000 pfam_TIMELESS_C pfam_TIMELESS_C,pfam_Timeless - no_errors TIMELESS HGNC ENSG00000111602 tier1 - - 37 0 0.00 17 22 56.41 TLE4 0 genome.wustl.edu 37 9 82336771 82336771 + Silent SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 82336771 82336771 C A SNP TLE4 ENST00000376520 human ensembl 74_37 +1 known silent c.2050 p.R684 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE4 HGNC ENSG00000106829 tier1 - - 75 0 0.00 63 4 5.97 TM9SF1 0 genome.wustl.edu 37 14 24662056 24662056 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 24662056 24662056 G A SNP TM9SF1 ENST00000556387 human ensembl 74_37 -1 known silent c.1392 p.V464 1.000 pfam_EMP70 pfam_EMP70,pfam_Snf7 - no_errors TM9SF1 HGNC ENSG00000100926 tier1 - - 73 0 0.00 23 24 51.06 TMED10 0 genome.wustl.edu 37 14 75601607 75601607 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 14 75601607 75601607 G T SNP TMED10 ENST00000303575 human ensembl 74_37 -1 known missense c.641 p.A214D 1.000 NULL pfam_GOLD,pfscan_GOLD - no_errors TMED10 HGNC ENSG00000170348 tier1 - - 94 0 0.00 61 4 6.15 TMEM175 0 genome.wustl.edu 37 4 941669 941669 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 941669 941669 G A SNP TMEM175 ENST00000264771 human ensembl 74_37 +1 known missense c.142 p.A48T 1.000 pfam_DUF1211_TMEM175 pfam_DUF1211_TMEM175 - no_errors TMEM175 HGNC ENSG00000127419 tier1 rs140262376 - 78 0 0.00 32 22 40.74 TMEM30A 0 genome.wustl.edu 37 6 75994133 75994133 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 6 75994133 75994133 G T SNP TMEM30A ENST00000230461 human ensembl 74_37 -1 known missense c.222 p.N74K 1.000 pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk pfam_DUF284_TM_euk,pirsf_DUF284_TM_euk - no_errors TMEM30A HGNC ENSG00000112697 tier1 - - 69 0 0.00 66 5 7.04 TMEM52 0 genome.wustl.edu 37 1 1849569 1849569 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 1849569 1849569 G A SNP TMEM52 ENST00000310991 human ensembl 74_37 -1 known missense c.382 p.R128W 0.576 NULL NULL - no_errors TMEM52 HGNC ENSG00000178821 tier1 - - 101 0 0.00 62 4 6.06 TNS1 0 genome.wustl.edu 37 2 218699888 218699888 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 218699888 218699888 G T SNP TNS1 ENST00000171887 human ensembl 74_37 -1 known missense c.2831 p.P944H 1.000 NULL pfam_PTB,pfam_Tensin_phosphatase_C2-dom,pfam_SH2,superfamily_C2_dom,smart_Tyr_Pase_cat,smart_SH2,smart_PTB/PI_dom,pfscan_SH2,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors TNS1 HGNC ENSG00000079308 tier1 - - 110 0 0.00 87 5 5.43 TOP1MT 0 genome.wustl.edu 37 8 144403487 144403487 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 144403487 144403487 G T SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known missense c.1030 p.R344S 0.742 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI 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 TOP1MT HGNC ENSG00000184428 tier1 - - 70 0 0.00 57 4 6.56 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 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 - 66 0 0.00 17 24 58.54 TRIM7 0 genome.wustl.edu 37 5 180630635 180630635 + Silent SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 180630635 180630635 G T SNP TRIM7 ENST00000274773 human ensembl 74_37 -1 known silent c.528 p.L176 0.872 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM7 HGNC ENSG00000146054 14 0 0.00 15 2 11.76 TRPM4 0 genome.wustl.edu 37 19 49703657 49703657 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 49703657 49703657 C A SNP TRPM4 ENST00000252826 human ensembl 74_37 +1 known missense c.2746 p.L916M 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom - no_errors TRPM4 HGNC ENSG00000130529 tier1 - - 49 0 0.00 48 4 7.69 TTC39B 0 genome.wustl.edu 37 9 15172044 15172044 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 9 15172044 15172044 G T SNP TTC39B ENST00000512701 human ensembl 74_37 -1 known missense c.2022 p.H674Q 0.993 NULL pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat - no_errors TTC39B HGNC ENSG00000155158 tier1 - - 51 0 0.00 47 4 7.84 TTN 0 genome.wustl.edu 37 2 179443708 179443708 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 179443708 179443708 C A SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.60345 p.K20115N 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,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 - - 56 0 0.00 64 5 7.25 TYRO3 0 genome.wustl.edu 37 15 41870293 41870293 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 41870293 41870293 C T SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known missense c.2492 p.A831V 0.216 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 tier1 - - 61 0 0.00 54 19 26.03 UPK1A-AS1 0 genome.wustl.edu 37 19 36159275 36159275 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 36159275 36159275 G T SNP UPK1A-AS1 ENST00000443196 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UPK1A-AS1 HGNC ENSG00000226510 tier1 - - 59 0 0.00 40 4 9.09 USP6NL 0 genome.wustl.edu 37 10 11527902 11527903 + Frame_Shift_Ins INS - - A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 10 11527902 11527903 - A INS USP6NL ENST00000379237 human ensembl 74_37 -1 known frame_shift_ins c.742_741 p.V247fs 1.000:1.000 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 USP6NL HGNC ENSG00000148429 tier1 44 0 0.00 48 9 15.79 UTY 0 genome.wustl.edu 37 Y 15417345 15417345 + Missense_Mutation SNP C C G TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda Y 15417345 15417345 C G SNP UTY ENST00000382896 human ensembl 74_37 -1 known missense c.3343 p.G1115R 1.000 smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors UTY HGNC ENSG00000183878 tier1 - - 34 0 0.00 13 18 58.06 VPS45 0 genome.wustl.edu 37 1 150082514 150082514 + RNA DEL A A - TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 1 150082514 150082514 A - DEL VPS45 ENST00000484306 human ensembl 74_37 +1 known rna NULL NULL 0.965 - - - no_errors VPS45 HGNC ENSG00000136631 tier1 53 0 0.00 43 5 10.42 VSIG1 0 genome.wustl.edu 37 X 107320559 107320559 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda X 107320559 107320559 G T SNP VSIG1 ENST00000415430 human ensembl 74_37 +1 known missense c.1220 p.G407V 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG1 HGNC ENSG00000101842 tier1 - - 65 0 0.00 57 4 6.56 WASH3P 0 genome.wustl.edu 37 15 102516346 102516346 + RNA SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 15 102516346 102516346 G T SNP WASH3P ENST00000557932 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors WASH3P HGNC ENSG00000185596 tier1 - - 312 0 0.00 233 25 9.65 WDR19 0 genome.wustl.edu 37 4 39279751 39279751 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 4 39279751 39279751 G T SNP WDR19 ENST00000399820 human ensembl 74_37 +1 known missense c.3841 p.G1281C 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR19 HGNC ENSG00000157796 tier1 - - 69 0 0.00 43 5 10.42 WFIKKN1 0 genome.wustl.edu 37 16 683091 683091 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 16 683091 683091 G T SNP WFIKKN1 ENST00000319070 human ensembl 74_37 +1 known missense c.681 p.E227D 0.997 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Prot_inh_Kunz-m,pfam_Ig_I-set,pfam_Ig_V-set,pfam_WAP-type_4-diS_core,pfam_Kazal_dom,pfam_Immunoglobulin,pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,superfamily_Prot_inh_Kunz-m,superfamily_WAP-type_4-diS_core,smart_WAP-type_4-diS_core,smart_Ig_sub,smart_Ig_sub2,smart_Prot_inh_Kunz-m,pfscan_Netrin_domain,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like_dom,prints_Prot_inh_Kunz-m - no_errors WFIKKN1 HGNC ENSG00000127578 tier1 - - 44 0 0.00 30 4 11.76 XDH 0 genome.wustl.edu 37 2 31569643 31569643 + Nonsense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 31569643 31569643 C A SNP XDH ENST00000379416 human ensembl 74_37 -1 known nonsense c.3343 p.E1115* 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 99 0 0.00 105 18 14.63 XRCC1 0 genome.wustl.edu 37 19 44056361 44056361 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 44056361 44056361 C T SNP XRCC1 ENST00000262887 human ensembl 74_37 -1 known missense c.890 p.G297D 0.003 NULL pfam_Xrcc1_N,pfam_BRCT_dom,superfamily_Galactose-bd-like,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors XRCC1 HGNC ENSG00000073050 tier1 - - 81 0 0.00 70 4 5.41 ZAP70 0 genome.wustl.edu 37 2 98355845 98355845 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 98355845 98355845 G T SNP ZAP70 ENST00000264972 human ensembl 74_37 +1 known missense c.1744 p.D582Y 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,superfamily_Kinase-like_dom,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_SYK/ZAP70,pfscan_SH2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ZAP70 HGNC ENSG00000115085 tier1 - - 92 0 0.00 63 5 7.35 ZFPM2 0 genome.wustl.edu 37 8 106813630 106813630 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 8 106813630 106813630 G T SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.1320 p.K440N 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 49 0 0.00 30 4 11.76 ZIK1 0 genome.wustl.edu 37 19 58096319 58096319 + Splice_Site SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 58096319 58096319 G T SNP ZIK1 ENST00000597850 human ensembl 74_37 +1 known splice_site c.34-1 e2-1 0.005 - - - no_errors ZIK1 HGNC ENSG00000171649 tier1 - - 48 0 0.00 32 4 11.11 ZNF131 0 genome.wustl.edu 37 5 43173515 43173515 + Missense_Mutation SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 43173515 43173515 G A SNP ZNF131 ENST00000399534 human ensembl 74_37 +1 known missense c.1150 p.A384T 1.000 pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 54 0 0.00 37 2 5.13 ZNF142 0 genome.wustl.edu 37 2 219509734 219509734 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 219509734 219509734 C A SNP ZNF142 ENST00000411696 human ensembl 74_37 -1 known missense c.1505 p.S502I 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 tier1 - - 39 0 0.00 35 4 10.26 ZNF18 0 genome.wustl.edu 37 17 11881520 11881520 + Nonsense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 17 11881520 11881520 G T SNP ZNF18 ENST00000322748 human ensembl 74_37 -1 known nonsense c.1404 p.Y468* 0.011 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF18 HGNC ENSG00000154957 42 0 0.00 33 2 5.71 ZNF217 0 genome.wustl.edu 37 20 52193292 52193292 + Missense_Mutation SNP C C T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 20 52193292 52193292 C T SNP ZNF217 ENST00000302342 human ensembl 74_37 -1 known missense c.2011 p.A671T 0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF217 HGNC ENSG00000171940 81 0 0.00 62 4 5.97 ZNF347 0 genome.wustl.edu 37 19 53644240 53644240 + Missense_Mutation SNP C C A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 19 53644240 53644240 C A SNP ZNF347 ENST00000452676 human ensembl 74_37 -1 known missense c.1844 p.R615M 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 ZNF347 HGNC ENSG00000197937 tier1 - - 79 0 0.00 69 4 5.48 ZNF354C 0 genome.wustl.edu 37 5 178507022 178507022 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 5 178507022 178507022 G T SNP ZNF354C ENST00000315475 human ensembl 74_37 +1 known missense c.1589 p.G530V 0.994 NULL 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 ZNF354C HGNC ENSG00000177932 tier1 - - 61 0 0.00 58 4 6.45 ZNF513 0 genome.wustl.edu 37 2 27603102 27603102 + Silent SNP G G A TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 2 27603102 27603102 G A SNP ZNF513 ENST00000323703 human ensembl 74_37 -1 known silent c.69 p.D23 0.998 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF513 HGNC ENSG00000163795 tier1 - - 144 0 0.00 76 32 29.63 ZNF664 0 genome.wustl.edu 37 12 124497083 124497083 + Missense_Mutation SNP G G T TCGA-JY-A6FB-01A-11D-A33E-09 TCGA-JY-A6FB-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 138d85b0-61a1-4cbd-ae9e-62acd1b86975 85f3edf1-90bf-4475-ac77-633a9b295eda 12 124497083 124497083 G T SNP ZNF664 ENST00000337815 human ensembl 74_37 +1 known missense c.392 p.C131F 0.134 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF664 HGNC ENSG00000179195 tier1 - - 40 0 0.00 55 4 6.78