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 AAK1 0 genome.wustl.edu 37 2 69732700 69732700 + Splice_Site SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 69732700 69732700 C T SNP AAK1 ENST00000409085 human ensembl 74_37 -1 known splice_site c.2269+1 e15+1 1.000 - - - no_errors AAK1 HGNC ENSG00000115977 31 0 0.00 18 3 14.29 ABCA12 0 genome.wustl.edu 37 2 215940284 215940284 + Frame_Shift_Del DEL A A - TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 215940284 215940284 A - DEL ABCA12 ENST00000412081 human ensembl 74_37 -1 novel frame_shift_del c.220 p.S74fs 0.082 NULL NULL - no_errors ABCA12 HGNC ENSG00000144452 tier1 16 0 0.00 27 7 20.59 ABCA12 0 genome.wustl.edu 37 2 215802332 215802332 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 215802332 215802332 G T SNP ABCA12 ENST00000272895 human ensembl 74_37 -1 known silent c.7444 p.R2482 1.000 pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA12 HGNC ENSG00000144452 16 0 0.00 24 2 7.69 ABCF2 0 genome.wustl.edu 37 7 150915852 150915852 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 150915852 150915852 G T SNP ABCF2 ENST00000222388 human ensembl 74_37 -1 known silent c.1125 p.V375 0.741 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF2 HGNC ENSG00000033050 59 0 0.00 60 4 6.25 ACCS 0 genome.wustl.edu 37 11 44095008 44095008 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 44095008 44095008 C T SNP ACCS ENST00000263776 human ensembl 74_37 +1 known silent c.360 p.R120 0.038 pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase - no_errors ACCS HGNC ENSG00000110455 tier1 - - 42 0 0.00 24 17 41.46 ACSF2 0 genome.wustl.edu 37 17 48551099 48551099 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 48551099 48551099 G T SNP ACSF2 ENST00000300441 human ensembl 74_37 +1 known missense c.1549 p.G517C 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSF2 HGNC ENSG00000167107 25 0 0.00 18 2 10.00 ADAMTSL2 0 genome.wustl.edu 37 9 136405772 136405772 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 136405772 136405772 G T SNP ADAMTSL2 ENST00000393061 human ensembl 74_37 +1 known silent c.792 p.V264 0.980 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTSL2 HGNC ENSG00000197859 tier1 - - 39 0 0.00 48 4 7.69 ADPRHL2 0 genome.wustl.edu 37 1 36557343 36557343 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 36557343 36557343 G T SNP ADPRHL2 ENST00000373178 human ensembl 74_37 +1 known missense c.433 p.G145W 1.000 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 pfam_Ribosyl_crysJ1,superfamily_Ribosyl_crysJ1 - no_errors ADPRHL2 HGNC ENSG00000116863 27 0 0.00 30 2 6.25 AEBP1 0 genome.wustl.edu 37 7 44149591 44149591 + RNA SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 44149591 44149591 C T SNP AEBP1 ENST00000454218 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 9 0 0.00 6 6 50.00 AFTPH 0 genome.wustl.edu 37 2 64794826 64794826 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 64794826 64794826 G T SNP AFTPH ENST00000422803 human ensembl 74_37 +1 known missense c.2066 p.R689I 1.000 NULL NULL - no_errors AFTPH HGNC ENSG00000119844 18 0 0.00 24 4 14.29 AIF1 0 genome.wustl.edu 37 6 31583913 31583913 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 31583913 31583913 G T SNP AIF1 ENST00000376059 human ensembl 74_37 +1 known missense c.187 p.G63C 0.999 pfscan_EF_hand_dom pfscan_EF_hand_dom - no_errors AIF1 HGNC ENSG00000204472 tier1 - - 53 0 0.00 51 5 8.93 ALDH8A1 0 genome.wustl.edu 37 6 135239827 135239827 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 135239827 135239827 G A SNP ALDH8A1 ENST00000265605 human ensembl 74_37 -1 known missense c.1190 p.T397M 1.000 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH8A1 HGNC ENSG00000118514 tier1 rs150799987 - 17 0 0.00 12 10 45.45 ALPK2 0 genome.wustl.edu 37 18 56203296 56203296 + Missense_Mutation SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 56203296 56203296 C G SNP ALPK2 ENST00000361673 human ensembl 74_37 -1 known missense c.4123 p.D1375H 0.000 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK2 HGNC ENSG00000198796 tier1 - - 18 0 0.00 11 6 35.29 ANAPC1 0 genome.wustl.edu 37 2 112605344 112605344 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 112605344 112605344 G T SNP ANAPC1 ENST00000341068 human ensembl 74_37 -1 known nonsense c.1749 p.Y583* 0.959 NULL NULL - no_errors ANAPC1 HGNC ENSG00000153107 tier1 - - 74 0 0.00 58 39 40.21 ANKRD12 0 genome.wustl.edu 37 18 9258860 9258860 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 9258860 9258860 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known silent c.5595 p.D1865 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 rs149491789 - 23 0 0.00 5 10 66.67 ANKRD30BP2 0 genome.wustl.edu 37 21 14417520 14417520 + RNA SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 21 14417520 14417520 A G SNP ANKRD30BP2 ENST00000471407 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors ANKRD30BP2 HGNC ENSG00000224309 tier1 - - 92 0 0.00 103 31 23.13 ANKRD44 0 genome.wustl.edu 37 2 197986194 197986194 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 197986194 197986194 G A SNP ANKRD44 ENST00000328737 human ensembl 74_37 -1 known silent c.693 p.N231 0.039 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD44 HGNC ENSG00000065413 tier1 - - 18 0 0.00 13 15 53.57 AOC1 0 genome.wustl.edu 37 7 150556093 150556093 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 150556093 150556093 C T SNP AOC1 ENST00000416793 human ensembl 74_37 +1 known silent c.1813 p.L605 1.000 pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase - no_errors AOC1 HGNC ENSG00000002726 41 0 0.00 47 3 6.00 AP5S1 0 genome.wustl.edu 37 20 3804698 3804698 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 20 3804698 3804698 G T SNP AP5S1 ENST00000246041 human ensembl 74_37 +1 known silent c.357 p.S119 0.001 NULL NULL - no_errors AP5S1 HGNC ENSG00000125843 tier1 - - 57 0 0.00 37 18 32.73 APBA3 0 genome.wustl.edu 37 19 3752887 3752887 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 3752887 3752887 C T SNP APBA3 ENST00000316757 human ensembl 74_37 -1 known silent c.1113 p.P371 0.009 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA3 HGNC ENSG00000011132 tier1 - - 40 0 0.00 29 15 34.09 APLNR 0 genome.wustl.edu 37 11 57003456 57003456 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 57003456 57003456 C A SNP APLNR ENST00000257254 human ensembl 74_37 -1 known missense c.1023 p.E341D 0.999 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM,prints_APJ_rcpt,prints_GPCR_Rhodpsn,prints_ATII_rcpt - no_errors APLNR HGNC ENSG00000134817 tier1 - - 45 0 0.00 29 11 27.50 ARAF 0 genome.wustl.edu 37 X 47426460 47426460 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 47426460 47426460 A C SNP ARAF ENST00000377045 human ensembl 74_37 +1 known missense c.803 p.K268T 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Raf-like_ras-bd,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,smart_Raf-like_ras-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Raf-like_ras-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_DAG/PE-bd - no_errors ARAF HGNC ENSG00000078061 tier1 - - 33 0 0.00 15 17 53.12 ARAP1 0 genome.wustl.edu 37 11 72422123 72422123 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 72422123 72422123 G T SNP ARAP1 ENST00000393609 human ensembl 74_37 -1 known missense c.1156 p.Q386K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 26 0 0.00 25 2 7.41 ARHGAP21 0 genome.wustl.edu 37 10 24874962 24874962 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 24874962 24874962 C T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known missense c.4256 p.R1419H 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP21 HGNC ENSG00000107863 tier1 - - 32 0 0.00 36 19 34.55 ARHGAP28 0 genome.wustl.edu 37 18 6898517 6898517 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 6898517 6898517 A G SNP ARHGAP28 ENST00000400091 human ensembl 74_37 +1 known missense c.2113 p.N705D 0.011 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP28 HGNC ENSG00000088756 tier1 - - 38 0 0.00 18 9 33.33 ARHGAP29 0 genome.wustl.edu 37 1 94650552 94650552 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 94650552 94650552 A C SNP ARHGAP29 ENST00000260526 human ensembl 74_37 -1 known missense c.1985 p.L662R 0.997 NULL pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom - no_errors ARHGAP29 HGNC ENSG00000137962 tier1 - - 23 0 0.00 12 13 50.00 ARHGAP40 0 genome.wustl.edu 37 20 37267439 37267439 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 20 37267439 37267439 G A SNP ARHGAP40 ENST00000373345 human ensembl 74_37 +1 known missense c.918 p.M306I 0.000 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors ARHGAP40 HGNC ENSG00000124143 tier1 - - 66 0 0.00 51 30 37.04 ARHGEF12 0 genome.wustl.edu 37 11 120328447 120328447 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 120328447 120328447 C T SNP ARHGEF12 ENST00000356641 human ensembl 74_37 +1 known missense c.2150 p.T717I 1.000 NULL pfam_RGS-like_dom,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 tier1 - - 37 0 0.00 35 5 12.50 ARHGEF38 0 genome.wustl.edu 37 4 106580493 106580493 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 106580493 106580493 G T SNP ARHGEF38 ENST00000420470 human ensembl 74_37 +1 putative missense c.1516 p.A506S 0.000 pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom pfam_DH-domain,pfam_BAR_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF38 HGNC ENSG00000236699 tier1 - - 25 0 0.00 29 4 12.12 ARHGEF40 0 genome.wustl.edu 37 14 21550545 21550545 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 21550545 21550545 A G SNP ARHGEF40 ENST00000298694 human ensembl 74_37 +1 known missense c.3394 p.R1132G 1.000 pfam_DH-domain,superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF40 HGNC ENSG00000165801 tier1 - - 11 0 0.00 8 9 52.94 ARID1A 0 genome.wustl.edu 37 1 27101252 27101252 + Nonsense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 27101252 27101252 C T SNP ARID1A ENST00000324856 human ensembl 74_37 +1 known nonsense c.4534 p.Q1512* 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 ARID1A HGNC ENSG00000117713 tier1 - - 34 0 0.00 26 17 39.53 ARMC2 0 genome.wustl.edu 37 6 109286189 109286189 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 109286189 109286189 G T SNP ARMC2 ENST00000392644 human ensembl 74_37 +1 known silent c.2292 p.V764 1.000 superfamily_ARM-type_fold,smart_Armadillo superfamily_ARM-type_fold,smart_Armadillo - no_errors ARMC2 HGNC ENSG00000118690 tier1 - - 41 0 0.00 52 4 7.14 ARMC4 0 genome.wustl.edu 37 10 28250550 28250550 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 28250550 28250550 C A SNP ARMC4 ENST00000305242 human ensembl 74_37 -1 known missense c.1333 p.A445S 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,superfamily_GSKIP_dom,smart_Armadillo,pfscan_Armadillo - no_errors ARMC4 HGNC ENSG00000169126 30 0 0.00 35 2 5.41 ASF1A 0 genome.wustl.edu 37 6 119226836 119226836 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 119226836 119226836 G T SNP ASF1A ENST00000229595 human ensembl 74_37 +1 known missense c.245 p.G82V 1.000 pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like pfam_Histone_chaperone_ASF1-like,superfamily_Histone_chaperone_ASF1-like - no_errors ASF1A HGNC ENSG00000111875 30 0 0.00 44 4 8.33 ASTN1 0 genome.wustl.edu 37 1 176845742 176845742 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 176845742 176845742 G A SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.3418 p.R1140W 0.995 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 25 0 0.00 15 21 58.33 ATAD1 0 genome.wustl.edu 37 10 89530710 89530710 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 89530710 89530710 G T SNP ATAD1 ENST00000308448 human ensembl 74_37 -1 known missense c.779 p.P260H 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors ATAD1 HGNC ENSG00000138138 tier1 - - 20 0 0.00 7 3 30.00 ATG9B 0 genome.wustl.edu 37 7 150716292 150716292 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 150716292 150716292 G A SNP ATG9B ENST00000377974 human ensembl 74_37 -1 known missense c.1133 p.P378L 1.000 pfam_Autophagy-rel_prot_9 pfam_Autophagy-rel_prot_9 - no_errors ATG9B HGNC ENSG00000181652 tier1 - - 18 0 0.00 20 5 20.00 ATP1A2 0 genome.wustl.edu 37 1 160098836 160098836 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 160098836 160098836 G A SNP ATP1A2 ENST00000361216 human ensembl 74_37 +1 known missense c.1283 p.R428H 1.000 pfam_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP1A2 HGNC ENSG00000018625 tier1 - - 31 0 0.00 35 11 23.91 AVPR1A 0 genome.wustl.edu 37 12 63541337 63541337 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 63541337 63541337 G T SNP AVPR1A ENST00000299178 human ensembl 74_37 -1 known silent c.1059 p.G353 0.862 pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_DUF1856,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Vprs_V1A_rcpt,prints_Vasoprsn_rcpt,prints_GPCR_Rhodpsn - no_errors AVPR1A HGNC ENSG00000166148 46 0 0.00 52 3 5.45 BAI1 0 genome.wustl.edu 37 8 143561135 143561135 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 143561135 143561135 G A SNP BAI1 ENST00000323289 human ensembl 74_37 +1 known missense c.1808 p.R603Q 0.999 smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom 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 tier1 - - 44 0 0.00 11 26 70.27 BBOX1 0 genome.wustl.edu 37 11 27147227 27147227 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 27147227 27147227 G A SNP BBOX1 ENST00000263182 human ensembl 74_37 +1 known missense c.863 p.R288H 1.000 pfam_Taurine_dOase,tigrfam_2-oxoglut_dOase pfam_Taurine_dOase,pfam_DUF971,tigrfam_2-oxoglut_dOase - no_errors BBOX1 HGNC ENSG00000129151 27 0 0.00 31 2 6.06 BCAR1 0 genome.wustl.edu 37 16 75263637 75263637 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 75263637 75263637 G A SNP BCAR1 ENST00000418647 human ensembl 74_37 -1 known silent c.2523 p.I841 0.351 pfam_CAS_DUF3513 pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors BCAR1 HGNC ENSG00000050820 tier1 rs141865631 - 48 0 0.00 9 28 75.68 BCL9L 0 genome.wustl.edu 37 11 118768466 118768467 + RNA INS - - TT TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 118768466 118768467 - TT INS BCL9L ENST00000526143 human ensembl 74_37 -1 known rna NULL NULL 0.859:0.885 - - - no_errors BCL9L HGNC ENSG00000186174 tier1 16 0 0.00 24 3 11.11 BDP1 0 genome.wustl.edu 37 5 70766232 70766233 + Frame_Shift_Ins INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 70766232 70766233 - T INS BDP1 ENST00000358731 human ensembl 74_37 +1 known frame_shift_ins c.930_931 p.L312fs 1.000:1.000 superfamily_Homeodomain-like,smart_SANT/Myb superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 20 0 0.00 21 2 8.70 BICD2 0 genome.wustl.edu 37 9 95482726 95482726 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 95482726 95482726 G A SNP BICD2 ENST00000356884 human ensembl 74_37 -1 known silent c.918 p.G306 0.001 pfam_Bicaudal-D_microtubule-assoc pfam_Bicaudal-D_microtubule-assoc - no_errors BICD2 HGNC ENSG00000185963 tier1 - - 46 0 0.00 44 34 43.59 BNIP3P1 0 genome.wustl.edu 37 14 28734247 28734247 + RNA SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 28734247 28734247 A G SNP BNIP3P1 ENST00000550043 human ensembl 74_37 +1 known rna NULL NULL 0.964 - - - no_errors BNIP3P1 HGNC ENSG00000197358 tier1 - - 57 0 0.00 26 17 39.53 BRINP1 0 genome.wustl.edu 37 9 121929731 121929731 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 121929731 121929731 G T SNP BRINP1 ENST00000265922 human ensembl 74_37 -1 known missense c.1917 p.D639E 1.000 NULL pfam_MACPF,smart_MACPF - no_errors BRINP1 HGNC ENSG00000078725 tier1 - - 29 0 0.00 16 3 15.79 BRWD3 0 genome.wustl.edu 37 X 79939516 79939516 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 79939516 79939516 T C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.4226 p.K1409R 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 75 0 0.00 51 30 37.04 BRWD3 0 genome.wustl.edu 37 X 79947627 79947627 + Nonsense_Mutation SNP T T A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 79947627 79947627 T A SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known nonsense c.3286 p.K1096* 1.000 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 29 0 0.00 24 20 45.45 BRWD3 0 genome.wustl.edu 37 X 79999527 79999527 + RNA SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 79999527 79999527 T C SNP BRWD3 ENST00000478415 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 35 0 0.00 38 22 36.67 BTAF1 0 genome.wustl.edu 37 10 93719738 93719738 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 93719738 93719738 G T SNP BTAF1 ENST00000265990 human ensembl 74_37 +1 known missense c.1090 p.V364L 1.000 superfamily_ARM-type_fold pfam_DUF3535,pfam_SNF2_N,pfam_HEAT,pfam_Helicase_C,superfamily_ARM-type_fold,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors BTAF1 HGNC ENSG00000095564 tier1 - - 64 0 0.00 64 4 5.88 BTBD7 0 genome.wustl.edu 37 14 93760733 93760733 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 93760733 93760733 G T SNP BTBD7 ENST00000334746 human ensembl 74_37 -1 known missense c.633 p.D211E 0.999 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 tier1 - - 31 0 0.00 33 4 10.81 C10orf76 0 genome.wustl.edu 37 10 103771512 103771512 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 103771512 103771512 G T SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.799 p.Q267K 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 20 0 0.00 19 4 17.39 C11orf54 0 genome.wustl.edu 37 11 93488460 93488460 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 93488460 93488460 G T SNP C11orf54 ENST00000331239 human ensembl 74_37 +1 known missense c.415 p.G139W 1.000 pfam_DUF1907 pfam_DUF1907 - no_errors C11orf54 HGNC ENSG00000182919 70 0 0.00 65 4 5.80 C12orf55 0 genome.wustl.edu 37 12 97038026 97038026 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 97038026 97038026 A C SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative missense c.4387 p.S1463R 0.000 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 28 0 0.00 6 19 76.00 C16orf96 0 genome.wustl.edu 37 16 4626216 4626216 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 4626216 4626216 G A SNP C16orf96 ENST00000444310 human ensembl 74_37 +1 known missense c.1735 p.A579T 0.003 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 tier1 - - 18 0 0.00 12 8 40.00 C19orf44 0 genome.wustl.edu 37 19 16620485 16620485 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 16620485 16620485 C T SNP C19orf44 ENST00000221671 human ensembl 74_37 +1 known missense c.1325 p.S442F 0.002 NULL NULL - no_errors C19orf44 HGNC ENSG00000105072 tier1 - - 11 0 0.00 11 7 38.89 C2orf80 0 genome.wustl.edu 37 2 209045468 209045468 + Splice_Site SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 209045468 209045468 C T SNP C2orf80 ENST00000341287 human ensembl 74_37 -1 known splice_site c.366+1 e5+1 0.999 - - - no_errors C2orf80 HGNC ENSG00000188674 tier1 - - 16 0 0.00 15 10 40.00 C7orf10 0 genome.wustl.edu 37 7 40498755 40498755 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 40498755 40498755 G T SNP C7orf10 ENST00000309930 human ensembl 74_37 +1 known missense c.965 p.R322L 1.000 superfamily_CoA-Trfase_III_dom pfam_CoA-Trfase_fam_III,superfamily_CoA-Trfase_III_dom - no_errors C7orf10 HGNC ENSG00000175600 tier1 - - 49 0 0.00 60 5 7.69 CACHD1 0 genome.wustl.edu 37 1 65145405 65145405 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 65145405 65145405 G T SNP CACHD1 ENST00000371073 human ensembl 74_37 +1 known silent c.3372 p.R1124 0.244 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 44 0 0.00 46 4 8.00 CACNB1 0 genome.wustl.edu 37 17 37342801 37342801 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 37342801 37342801 G T SNP CACNB1 ENST00000394303 human ensembl 74_37 -1 known silent c.576 p.S192 1.000 superfamily_SH3_domain pfam_GK/Ca_channel_bsu,pfam_VDCC_L_bsu,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_GK/Ca_channel_bsu,pfscan_SH3_domain,prints_VDCC_L_bsu,prints_VDCC_L_b1su - no_errors CACNB1 HGNC ENSG00000067191 tier1 - - 72 0 0.00 81 6 6.90 CAMTA1 0 genome.wustl.edu 37 1 7792537 7792537 + Nonsense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 7792537 7792537 C T SNP CAMTA1 ENST00000303635 human ensembl 74_37 +1 known nonsense c.2944 p.R982* 1.000 NULL pfam_CG-1_dom,pfam_IPT,pfam_IQ_motif_EF-hand-BS,superfamily_Ig_E-set,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS - no_errors CAMTA1 HGNC ENSG00000171735 14 0 0.00 20 5 20.00 CAND2 0 genome.wustl.edu 37 3 12858855 12858855 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 12858855 12858855 G A SNP CAND2 ENST00000456430 human ensembl 74_37 +1 known silent c.2424 p.V808 1.000 superfamily_ARM-type_fold pfam_TATA-bd_TIP120,pfam_HEAT,superfamily_ARM-type_fold - no_errors CAND2 HGNC ENSG00000144712 tier1 - - 44 0 0.00 29 13 30.95 CANX 0 genome.wustl.edu 37 5 179147423 179147423 + Silent SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 179147423 179147423 A G SNP CANX ENST00000415618 human ensembl 74_37 +1 known silent c.1149 p.G383 0.970 pfam_Calret/calnex,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex pfam_Calret/calnex,superfamily_ConA-like_lec_gl_sf,superfamily_Calreticulin/calnexin_P_dom,prints_Calret/calnex - no_errors CANX HGNC ENSG00000127022 tier1 - - 65 0 0.00 50 4 7.41 CBLC 0 genome.wustl.edu 37 19 45296802 45296802 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 45296802 45296802 G T SNP CBLC ENST00000270279 human ensembl 74_37 +1 known missense c.1209 p.Q403H 0.000 NULL pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Adaptor_Cbl_N_hlx,pfam_Znf_C3HC4_RING-type,superfamily_Adaptor_Cbl_N_hlx,smart_Znf_RING,pfscan_Znf_RING - no_errors CBLC HGNC ENSG00000142273 tier1 - - 42 0 0.00 34 4 10.53 CBX6 0 genome.wustl.edu 37 22 39262762 39262762 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 39262762 39262762 C T SNP CBX6 ENST00000407418 human ensembl 74_37 -1 known missense c.691 p.A231T 0.912 NULL pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr - no_errors CBX6 HGNC ENSG00000183741 tier1 - - 31 0 0.00 18 16 47.06 CCDC141 0 genome.wustl.edu 37 2 179825996 179825996 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 179825996 179825996 T G SNP CCDC141 ENST00000420890 human ensembl 74_37 -1 known missense c.741 p.Q247H 1.000 NULL pfam_Ig_I-set,pfam_Spectrin_repeat,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CCDC141 HGNC ENSG00000163492 tier1 - - 50 0 0.00 39 23 37.10 CCDC170 0 genome.wustl.edu 37 6 151857458 151857458 + Silent SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 151857458 151857458 T G SNP CCDC170 ENST00000367290 human ensembl 74_37 +1 known silent c.63 p.T21 0.000 NULL superfamily_Prefoldin,superfamily_Smac_DIABLO-like - no_errors CCDC170 HGNC ENSG00000120262 tier1 - - 21 0 0.00 21 9 30.00 CCNK 0 genome.wustl.edu 37 14 99959174 99959174 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 99959174 99959174 G A SNP CCNK ENST00000389879 human ensembl 74_37 +1 known missense c.160 p.A54T 1.000 pfam_Cyclin_N,superfamily_Cyclin-like pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors CCNK HGNC ENSG00000090061 tier1 - - 14 0 0.00 10 5 33.33 CD163L1 0 genome.wustl.edu 37 12 7527243 7527243 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 7527243 7527243 G A SNP CD163L1 ENST00000313599 human ensembl 74_37 -1 known silent c.3204 p.S1068 0.099 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR - no_errors CD163L1 HGNC ENSG00000177675 19 0 0.00 16 2 11.11 CD1E 0 genome.wustl.edu 37 1 158325803 158325803 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 158325803 158325803 C A SNP CD1E ENST00000368167 human ensembl 74_37 +1 known missense c.812 p.A271E 0.002 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like_dom pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1E HGNC ENSG00000158488 tier1 - - 50 0 0.00 33 26 44.07 CD93 0 genome.wustl.edu 37 20 23066708 23066708 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 20 23066708 23066708 G A SNP CD93 ENST00000246006 human ensembl 74_37 -1 known missense c.122 p.S41L 1.000 pirsf_CD93/CD141,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pirsf_CD93/CD141,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_MFS_dom_general_subst_transpt,smart_C-type_lectin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_C-type_lectin - no_errors CD93 HGNC ENSG00000125810 tier1 - - 15 0 0.00 17 9 34.62 CDC42BPA 0 genome.wustl.edu 37 1 227288919 227288919 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 227288919 227288919 G T SNP CDC42BPA ENST00000334218 human ensembl 74_37 -1 known missense c.2023 p.P675T 1.000 NULL pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CDC42BPA HGNC ENSG00000143776 31 0 0.00 28 3 9.68 CDCA7L 0 genome.wustl.edu 37 7 21946041 21946041 + Missense_Mutation SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 21946041 21946041 C G SNP CDCA7L ENST00000406877 human ensembl 74_37 -1 known missense c.787 p.G263R 1.000 NULL pfam_Znf-4CXXC_R1 - no_errors CDCA7L HGNC ENSG00000164649 47 0 0.00 17 2 10.53 CDH11 0 genome.wustl.edu 37 16 65016132 65016132 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 65016132 65016132 A C SNP CDH11 ENST00000268603 human ensembl 74_37 -1 known missense c.1072 p.F358V 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH11 HGNC ENSG00000140937 tier1 - - 67 0 0.00 13 20 60.61 CDH20 0 genome.wustl.edu 37 18 59206286 59206286 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 59206286 59206286 G T SNP CDH20 ENST00000262717 human ensembl 74_37 +1 known missense c.1438 p.V480F 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH20 HGNC ENSG00000101542 tier1 - - 53 0 0.00 37 4 9.76 CDH6 0 genome.wustl.edu 37 5 31267714 31267714 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 31267714 31267714 A C SNP CDH6 ENST00000265071 human ensembl 74_37 +1 known missense c.134 p.K45T 0.414 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 56 0 0.00 38 26 40.62 CDH6 0 genome.wustl.edu 37 5 31318069 31318069 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 31318069 31318069 G T SNP CDH6 ENST00000514738 human ensembl 74_37 +1 putative silent c.1755 p.V585 1.000 NULL pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH6 HGNC ENSG00000113361 tier1 - - 24 0 0.00 19 9 32.14 CDK2AP1 0 genome.wustl.edu 37 12 123746286 123746286 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 123746286 123746286 G T SNP CDK2AP1 ENST00000261692 human ensembl 74_37 -1 known silent c.345 p.S115 1.000 pirsf_CDK2-associated_2 pfam_Cyclin-dep_kinase2-assoc_pr,pirsf_CDK2-associated_2 - no_errors CDK2AP1 HGNC ENSG00000111328 tier1 - - 18 0 0.00 14 4 22.22 CDR1 0 genome.wustl.edu 37 X 139865773 139865773 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 139865773 139865773 G T SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known missense c.759 p.F253L 0.026 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 70 0 0.00 68 4 5.56 CECR2 0 genome.wustl.edu 37 22 17983960 17983960 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 17983960 17983960 G A SNP CECR2 ENST00000400573 human ensembl 74_37 +1 novel missense c.716 p.R239H 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors CECR2 HGNC ENSG00000099954 tier1 - - 28 0 0.00 19 13 40.62 CELA2B 0 genome.wustl.edu 37 1 15813780 15813780 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 15813780 15813780 G T SNP CELA2B ENST00000375910 human ensembl 74_37 +1 known nonsense c.640 p.G214* 1.000 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors CELA2B HGNC ENSG00000215704 tier1 - - 63 0 0.00 47 4 7.84 CEP57L1 0 genome.wustl.edu 37 6 109481828 109481828 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 109481828 109481828 G T SNP CEP57L1 ENST00000359793 human ensembl 74_37 +1 known missense c.1070 p.C357F 0.016 pfam_Cep57_MT-bd_dom pfam_Cep57_MT-bd_dom - no_errors CEP57L1 HGNC ENSG00000183137 tier1 - - 23 0 0.00 19 4 17.39 CFHR5 0 genome.wustl.edu 37 1 196952103 196952103 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 196952103 196952103 A C SNP CFHR5 ENST00000367414 human ensembl 74_37 +1 known missense c.219 p.E73D 0.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 tier1 - - 47 0 0.00 7 17 70.83 CHAMP1 0 genome.wustl.edu 37 13 115089492 115089492 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 13 115089492 115089492 G T SNP CHAMP1 ENST00000361283 human ensembl 74_37 +1 known missense c.175 p.A59S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CHAMP1 HGNC ENSG00000198824 16 0 0.00 24 3 11.11 CHIA 0 genome.wustl.edu 37 1 111861192 111861192 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 111861192 111861192 C A SNP CHIA ENST00000343320 human ensembl 74_37 +1 known missense c.807 p.H269Q 0.172 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom - no_errors CHIA HGNC ENSG00000134216 tier1 - - 38 0 0.00 23 20 46.51 CMYA5 0 genome.wustl.edu 37 5 79027139 79027140 + Frame_Shift_Ins INS - - CATC TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 79027139 79027140 - CATC INS CMYA5 ENST00000446378 human ensembl 74_37 +1 known frame_shift_ins c.2551_2552 p.E853fs 0.000:0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 tier1 68 0 0.00 10 14 58.33 CNN1 0 genome.wustl.edu 37 19 11649767 11649767 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 11649767 11649767 G T SNP CNN1 ENST00000252456 human ensembl 74_37 +1 known missense c.25 p.G9C 1.000 superfamily_CH-domain,prints_SM22_calponin pfam_Calponin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain,pfscan_Calponin_repeat,prints_SM22_calponin,prints_Calponin - no_errors CNN1 HGNC ENSG00000130176 47 0 0.00 48 4 7.69 CNTLN 0 genome.wustl.edu 37 9 17135344 17135345 + Frame_Shift_Ins INS - - A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 17135344 17135345 - A INS CNTLN ENST00000380647 human ensembl 74_37 +1 known frame_shift_ins c.281_282 p.E95fs 0.947:0.972 NULL superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 tier1 27 0 0.00 24 7 22.58 CNTN5 0 genome.wustl.edu 37 11 100061924 100061924 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 100061924 100061924 C T SNP CNTN5 ENST00000279463 human ensembl 74_37 +1 known silent c.1647 p.Y549 0.288 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN5 HGNC ENSG00000149972 tier1 - - 38 0 0.00 22 25 53.19 CNTRL 0 genome.wustl.edu 37 9 123888117 123888117 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 123888117 123888117 G A SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.1928 p.R643Q 0.970 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 48 0 0.00 22 14 38.89 COL11A1 0 genome.wustl.edu 37 1 103471658 103471658 + Missense_Mutation SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 103471658 103471658 C G SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.1793 p.G598A 1.000 pfam_Collagen 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 - - 25 0 0.00 12 9 39.13 COL24A1 0 genome.wustl.edu 37 1 86430729 86430729 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 86430729 86430729 T C SNP COL24A1 ENST00000370571 human ensembl 74_37 -1 known missense c.2480 p.K827R 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C - no_errors COL24A1 HGNC ENSG00000171502 22 0 0.00 48 4 7.69 COL6A6 0 genome.wustl.edu 37 3 130394219 130394219 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 130394219 130394219 G T SNP COL6A6 ENST00000358511 human ensembl 74_37 +1 known missense c.6770 p.S2257I 0.000 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A6 HGNC ENSG00000206384 tier1 - - 21 0 0.00 14 3 17.65 COL9A2 0 genome.wustl.edu 37 1 40779928 40779928 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 40779928 40779928 G T SNP COL9A2 ENST00000372748 human ensembl 74_37 -1 known silent c.198 p.G66 0.994 pfam_Collagen pfam_Collagen - no_errors COL9A2 HGNC ENSG00000049089 24 0 0.00 27 3 10.00 COPA 0 genome.wustl.edu 37 1 160283886 160283886 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 160283886 160283886 G T SNP COPA ENST00000368069 human ensembl 74_37 -1 known silent c.736 p.R246 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Coatomer_asu_C,pfam_Coatomer_WD-assoc_reg,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Coatomer_asu,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors COPA HGNC ENSG00000122218 8 0 0.00 23 3 11.54 CPB1 0 genome.wustl.edu 37 3 148562486 148562486 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 148562486 148562486 G T SNP CPB1 ENST00000282957 human ensembl 74_37 +1 known missense c.710 p.R237L 1.000 pfam_Peptidase_M14,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14 - no_errors CPB1 HGNC ENSG00000153002 40 0 0.00 50 3 5.66 CPED1 0 genome.wustl.edu 37 7 120655798 120655798 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 120655798 120655798 C A SNP CPED1 ENST00000310396 human ensembl 74_37 +1 known missense c.329 p.T110K 0.000 NULL NULL - no_errors CPED1 HGNC ENSG00000106034 tier1 - - 27 0 0.00 16 9 36.00 CRB1 0 genome.wustl.edu 37 1 197297562 197297562 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 197297562 197297562 C T SNP CRB1 ENST00000367400 human ensembl 74_37 +1 known silent c.81 p.C27 0.930 NULL pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors CRB1 HGNC ENSG00000134376 tier1 - - 22 0 0.00 12 3 20.00 CREBBP 0 genome.wustl.edu 37 16 3789596 3789596 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 3789596 3789596 G T SNP CREBBP ENST00000262367 human ensembl 74_37 -1 known nonsense c.4263 p.C1421* 0.998 pfam_Histone_H3-K56_AcTrfase_RTT109 pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain - no_errors CREBBP HGNC ENSG00000005339 tier1 - - 23 0 0.00 22 4 15.38 CREBRF 0 genome.wustl.edu 37 5 172539365 172539365 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 172539365 172539365 G T SNP CREBRF ENST00000540014 human ensembl 74_37 +1 known missense c.1670 p.G557V 1.000 NULL NULL - no_errors CREBRF HGNC ENSG00000164463 tier1 - - 59 0 0.00 50 4 7.41 CRMP1 0 genome.wustl.edu 37 4 5830297 5830297 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 5830297 5830297 G T SNP CRMP1 ENST00000324989 human ensembl 74_37 -1 known missense c.1722 p.N574K 0.002 superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase - no_errors CRMP1 HGNC ENSG00000072832 50 0 0.00 35 3 7.89 CSRNP3 0 genome.wustl.edu 37 2 166535293 166535293 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 166535293 166535293 G A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known missense c.788 p.R263H 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 tier1 - - 59 0 0.00 41 20 32.79 CTNNB1 0 genome.wustl.edu 37 3 41266610 41266610 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 41266610 41266610 T C SNP CTNNB1 ENST00000349496 human ensembl 74_37 +1 known missense c.407 p.V136A 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,prints_Beta-catenin - no_errors CTNNB1 HGNC ENSG00000168036 tier1 - - 25 0 0.00 5 13 72.22 CTNND2 0 genome.wustl.edu 37 5 11364954 11364954 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 11364954 11364954 T C SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known missense c.1226 p.E409G 1.000 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 16 0 0.00 9 3 25.00 CWF19L2 0 genome.wustl.edu 37 11 107300162 107300162 + Nonsense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 107300162 107300162 G A SNP CWF19L2 ENST00000282251 human ensembl 74_37 -1 known nonsense c.796 p.Q266* 1.000 NULL pfam_Cwf19-like_C_dom-1,pfam_Cwf19-like_C_dom-2,superfamily_HIT-like - no_errors CWF19L2 HGNC ENSG00000152404 tier1 - - 27 0 0.00 12 11 47.83 CYP1A1 0 genome.wustl.edu 37 15 75014808 75014808 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 75014808 75014808 G T SNP CYP1A1 ENST00000379727 human ensembl 74_37 -1 known missense c.631 p.H211N 0.134 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP1,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1A1 HGNC ENSG00000140465 35 0 0.00 53 4 7.02 CYP2F1 0 genome.wustl.edu 37 19 41631428 41631428 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 41631428 41631428 G A SNP CYP2F1 ENST00000331105 human ensembl 74_37 +1 known missense c.1183 p.V395I 0.986 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_CYP2_fam,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2F1 HGNC ENSG00000197446 tier1 - - 28 0 0.00 27 5 15.62 CYP46A1 0 genome.wustl.edu 37 14 100191745 100191745 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 100191745 100191745 G T SNP CYP46A1 ENST00000261835 human ensembl 74_37 +1 known missense c.1194 p.M398I 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP46A1 HGNC ENSG00000036530 tier1 - - 47 0 0.00 40 4 9.09 CYP51A1 0 genome.wustl.edu 37 7 91743071 91743071 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 91743071 91743071 G T SNP CYP51A1 ENST00000003100 human ensembl 74_37 -1 known missense c.1438 p.L480I 1.000 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP51A1 HGNC ENSG00000001630 22 0 0.00 35 2 5.41 DCLK1 0 genome.wustl.edu 37 13 36382456 36382456 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 13 36382456 36382456 T G SNP DCLK1 ENST00000360631 human ensembl 74_37 -1 known missense c.1768 p.S590R 1.000 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_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_dom - no_errors DCLK1 HGNC ENSG00000133083 tier1 - - 17 0 0.00 6 12 66.67 DCST2 0 genome.wustl.edu 37 1 155002614 155002614 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 155002614 155002614 G T SNP DCST2 ENST00000368424 human ensembl 74_37 -1 known missense c.1123 p.L375M 0.280 pfam_DC_STAMP-like pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 tier1 - - 42 0 0.00 42 4 8.70 DDX17 0 genome.wustl.edu 37 22 38894461 38894461 + Missense_Mutation SNP G G C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 38894461 38894461 G C SNP DDX17 ENST00000396821 human ensembl 74_37 -1 known missense c.656 p.S219C 1.000 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX17 HGNC ENSG00000100201 tier1 - - 27 0 0.00 15 10 40.00 DEF8 0 genome.wustl.edu 37 16 90027487 90027487 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 90027487 90027487 G T SNP DEF8 ENST00000268676 human ensembl 74_37 +1 known silent c.846 p.R282 0.941 NULL pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DEF8 HGNC ENSG00000140995 tier1 - - 18 0 0.00 10 3 23.08 DENND4A 0 genome.wustl.edu 37 15 65957686 65957686 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 65957686 65957686 G T SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.5353 p.H1785N 1.000 NULL pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 tier1 - - 41 0 0.00 36 4 10.00 DHX8 0 genome.wustl.edu 37 17 41576241 41576241 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 41576241 41576241 G A SNP DHX8 ENST00000262415 human ensembl 74_37 +1 known missense c.1312 p.E438K 1.000 NULL pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_NA-bd_OB-fold,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX8 HGNC ENSG00000067596 tier1 - - 31 0 0.00 17 14 45.16 DNAH10 0 genome.wustl.edu 37 12 124298415 124298415 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 124298415 124298415 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known missense c.3382 p.D1128Y 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 45 0 0.00 38 7 15.56 DNAH10 0 genome.wustl.edu 37 12 124330608 124330608 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 124330608 124330608 G T SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known silent c.5367 p.T1789 0.077 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_PyrdxlP-dep_Trfase,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 35 0 0.00 34 2 5.56 DNAH11 0 genome.wustl.edu 37 7 21857862 21857862 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 21857862 21857862 G T SNP DNAH11 ENST00000328843 human ensembl 74_37 +1 known missense c.10617 p.L3539F 1.000 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 46 0 0.00 32 5 13.51 DNAH5 0 genome.wustl.edu 37 5 13736028 13736028 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 13736028 13736028 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known silent c.11469 p.G3823 0.998 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 13 0 0.00 14 5 26.32 DNAH5 0 genome.wustl.edu 37 5 13793813 13793813 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 13793813 13793813 G T SNP DNAH5 ENST00000265104 human ensembl 74_37 -1 known missense c.8035 p.L2679M 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DNAH5 HGNC ENSG00000039139 18 0 0.00 8 8 50.00 DNAH7 0 genome.wustl.edu 37 2 196863913 196863913 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 196863913 196863913 G A SNP DNAH7 ENST00000410072 human ensembl 74_37 -1 known silent c.1407 p.V469 0.000 NULL NULL - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 14 0 0.00 6 8 57.14 DNAJC13 0 genome.wustl.edu 37 3 132175410 132175410 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 132175410 132175410 G T SNP DNAJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.1165 p.A389S 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DNAJC13 HGNC ENSG00000138246 tier1 - - 28 0 0.00 23 4 14.81 DNAJC6 0 genome.wustl.edu 37 1 65855049 65855049 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 65855049 65855049 G T SNP DNAJC6 ENST00000371069 human ensembl 74_37 +1 known missense c.1304 p.W435L 1.000 NULL pfam_Tensin_phosphatase_C2-dom,pfam_DnaJ_domain,superfamily_DnaJ_domain,superfamily_C2_dom,smart_DnaJ_domain,pfscan_Tyr/Dual-sp_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom,pfscan_DnaJ_domain - no_errors DNAJC6 HGNC ENSG00000116675 42 0 0.00 68 4 5.56 DNALI1 0 genome.wustl.edu 37 1 38027197 38027197 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 38027197 38027197 G T SNP DNALI1 ENST00000296218 human ensembl 74_37 +1 known missense c.503 p.R168M 1.000 pfam_Axonemal_dynein_light_chain pfam_Axonemal_dynein_light_chain - no_errors DNALI1 HGNC ENSG00000163879 40 0 0.00 41 4 8.89 DNER 0 genome.wustl.edu 37 2 230456533 230456535 + In_Frame_Del DEL GCT GCT - TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 GCT GCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 230456533 230456535 GCT - DEL DNER ENST00000341772 human ensembl 74_37 -1 known in_frame_del c.348_346 p.S116in_frame_del 0.003:0.004:0.006 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_EGF_extracell,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors DNER HGNC ENSG00000187957 tier1 16 0 0.00 29 4 12.12 DNM1L 0 genome.wustl.edu 37 12 32896340 32896340 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 32896340 32896340 G T SNP DNM1L ENST00000553257 human ensembl 74_37 +1 known missense c.2246 p.W749L 1.000 NULL pfam_Dynamin_central,pfam_Dynamin_GTPase,pfam_GED,superfamily_P-loop_NTPase,smart_Dynamin_GTPase,smart_GED,prints_Dynamin_SF - no_errors DNM1L HGNC ENSG00000087470 21 0 0.00 33 4 10.81 DNMBP 0 genome.wustl.edu 37 10 101637038 101637038 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 101637038 101637038 G T SNP DNMBP ENST00000342239 human ensembl 74_37 -1 known nonsense c.4676 p.S1559* 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_BAR_dom,pfscan_BAR_dom,pfscan_SH3_domain,pfscan_DH-domain,prints_p67phox,prints_Spectrin_alpha_SH3 - no_errors DNMBP HGNC ENSG00000107554 64 0 0.00 47 3 6.00 DRD4 0 genome.wustl.edu 37 11 640565 640565 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 640565 640565 C T SNP DRD4 ENST00000176183 human ensembl 74_37 +1 known missense c.1222 p.R408C 1.000 prints_GPCR_Rhodpsn,prints_Dopamine_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Dopamine_D4_rcpt,prints_Dopamine_rcpt - no_errors DRD4 HGNC ENSG00000069696 tier1 - - 38 0 0.00 32 17 34.69 DSG4 0 genome.wustl.edu 37 18 28993361 28993361 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 28993361 28993361 G T SNP DSG4 ENST00000359747 human ensembl 74_37 +1 known missense c.2983 p.D995Y 0.399 NULL pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmosomal_cadherin - no_errors DSG4 HGNC ENSG00000175065 tier1 - - 46 0 0.00 59 4 6.35 DYRK1A 0 genome.wustl.edu 37 21 38853058 38853059 + Frame_Shift_Ins INS - - A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 21 38853058 38853059 - A INS DYRK1A ENST00000398960 human ensembl 74_37 +1 known frame_shift_ins c.446_447 p.N151fs 1.000:0.984 superfamily_Kinase-like_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 DYRK1A HGNC ENSG00000157540 tier1 26 0 0.00 19 6 24.00 EEF1A2 0 genome.wustl.edu 37 20 62127339 62127339 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 20 62127339 62127339 G A SNP EEF1A2 ENST00000217182 human ensembl 74_37 -1 known missense c.194 p.A65V 1.000 pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,tigrfam_Transl_elong_EF1A_euk/arc pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc - no_errors EEF1A2 HGNC ENSG00000101210 tier1 - - 37 0 0.00 43 18 29.51 EFCAB5 0 genome.wustl.edu 37 17 28295948 28295948 + Silent SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 28295948 28295948 A G SNP EFCAB5 ENST00000394835 human ensembl 74_37 +1 known silent c.330 p.P110 0.000 NULL pfscan_EF_hand_dom - no_errors EFCAB5 HGNC ENSG00000176927 tier1 - - 14 0 0.00 4 7 63.64 EGLN2 0 genome.wustl.edu 37 19 41306597 41306597 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 41306597 41306597 G T SNP EGLN2 ENST00000303961 human ensembl 74_37 +1 known silent c.120 p.L40 1.000 NULL pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors EGLN2 HGNC ENSG00000269858 tier1 - - 42 0 0.00 44 5 10.20 EHBP1 0 genome.wustl.edu 37 2 63176034 63176034 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 63176034 63176034 G T SNP EHBP1 ENST00000263991 human ensembl 74_37 +1 known nonsense c.2158 p.E720* 0.002 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain - no_errors EHBP1 HGNC ENSG00000115504 30 0 0.00 29 2 6.45 EIF3F 0 genome.wustl.edu 37 11 8015982 8015982 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 8015982 8015982 G T SNP EIF3F ENST00000537635 human ensembl 74_37 +1 known missense c.708 p.M236I 1.000 smart_JAB_MPN_dom pfam_JAB_MPN_dom,smart_JAB_MPN_dom - no_errors EIF3F HGNC ENSG00000175390 tier1 - - 41 0 0.00 36 4 10.00 ELFN1 0 genome.wustl.edu 37 7 1785372 1785372 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 1785372 1785372 C T SNP ELFN1 ENST00000424383 human ensembl 74_37 +1 known silent c.1140 p.C380 0.489 superfamily_Fibronectin_type3 superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors ELFN1 HGNC ENSG00000225968 tier1 - - 48 0 0.00 22 10 31.25 EMID1 0 genome.wustl.edu 37 22 29651284 29651284 + Nonsense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 29651284 29651284 C T SNP EMID1 ENST00000404820 human ensembl 74_37 +1 novel nonsense c.1144 p.Q382* 1.000 NULL pfam_Collagen,pfam_EMI_domain,pfscan_EMI_domain - no_errors EMID1 HGNC ENSG00000186998 tier1 - - 32 0 0.00 35 4 10.26 EMR1 0 genome.wustl.edu 37 19 6935064 6935064 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 6935064 6935064 G A SNP EMR1 ENST00000312053 human ensembl 74_37 +1 known missense c.2356 p.E786K 0.910 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd_dom,pfam_GPS_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like - no_errors EMR1 HGNC ENSG00000174837 tier1 - - 60 0 0.00 46 4 8.00 ENSG00000185710 0 genome.wustl.edu 37 16 21893326 21893326 + RNA DEL A A - TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 21893326 21893326 A 0 DEL ENSG00000185710 ENST00000543702 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-645C24.2 Clone_based_vega_gene ENSG00000185710 48 0 0.00 35 21 37.50 ENSG00000214719 0 genome.wustl.edu 37 17 28960350 28960351 + RNA INS - - A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 28960350 28960351 - A INS ENSG00000214719 ENST00000398849 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors AC005562.1 Clone_based_vega_gene ENSG00000214719 tier1 69 0 0.00 62 30 32.61 ENSG00000216032 0 genome.wustl.edu 37 X 145072451 145072451 + RNA SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 145072451 145072451 A C SNP ENSG00000216032 ENST00000401213 human ensembl 74_37 -1 novel rna NULL NULL 0.000 - - - no_errors AL445258.1 Clone_based_ensembl_gene ENSG00000216032 tier1 - - 30 0 0.00 18 8 30.77 ENSG00000223697 0 genome.wustl.edu 37 8 133854714 133854715 + RNA INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 133854714 133854715 - T INS ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.003 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 tier1 10 0 0.00 4 2 33.33 ENSG00000234864 0 genome.wustl.edu 37 10 43197597 43197597 + RNA SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 43197597 43197597 G A SNP ENSG00000234864 ENST00000439913 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors AL022344.5 Clone_based_vega_gene ENSG00000234864 tier1 - - 43 0 0.00 48 4 7.69 ENSG00000239642 0 genome.wustl.edu 37 5 131214704 131214704 + RNA SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 131214704 131214704 A C SNP ENSG00000239642 ENST00000439905 human ensembl 74_37 -1 known rna NULL NULL 0.206 - - - no_errors AC034228.7 Clone_based_vega_gene ENSG00000239642 tier1 - - 16 0 0.00 11 11 50.00 ENSG00000242048 0 genome.wustl.edu 37 7 151504031 151504031 + RNA DEL A A - TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 151504031 151504031 A - DEL ENSG00000242048 ENST00000462083 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors RP13-452N2.1 Clone_based_vega_gene ENSG00000242048 tier1 10 0 0.00 18 4 18.18 ENSG00000252831 0 genome.wustl.edu 37 5 141913840 141913840 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 141913840 141913840 G T SNP ENSG00000252831 ENST00000517022 human ensembl 74_37 -1 novel rna NULL NULL 0.030 - - - no_errors AC005215.1 Clone_based_ensembl_gene ENSG00000252831 tier1 - - 14 0 0.00 7 4 36.36 ENSG00000257129 0 genome.wustl.edu 37 12 108305201 108305201 + RNA SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 108305201 108305201 T G SNP ENSG00000257129 ENST00000547829 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-554D14.1 Clone_based_vega_gene ENSG00000257129 tier1 - - 9 0 0.00 6 4 40.00 EPB41L3 0 genome.wustl.edu 37 18 5397308 5397308 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 5397308 5397308 C T SNP EPB41L3 ENST00000341928 human ensembl 74_37 -1 known missense c.2590 p.V864M 0.988 pirsf_Band_41_protein pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB_dom,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L3 HGNC ENSG00000082397 tier1 - - 14 0 0.00 12 4 25.00 ERAP2 0 genome.wustl.edu 37 5 96253165 96253165 + Splice_Site SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 96253165 96253165 G T SNP ERAP2 ENST00000437043 human ensembl 74_37 +1 known splice_site c.2740-1 e18-1 1.000 - - - no_errors ERAP2 HGNC ENSG00000164308 38 0 0.00 16 2 11.11 ERBB3 0 genome.wustl.edu 37 12 56495099 56495099 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 56495099 56495099 G T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.3456 p.E1152D 0.998 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB3 HGNC ENSG00000065361 tier1 - - 22 0 0.00 18 3 14.29 ERBB4 0 genome.wustl.edu 37 2 212251633 212251633 + Silent SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 212251633 212251633 T C SNP ERBB4 ENST00000342788 human ensembl 74_37 -1 known silent c.3426 p.R1142 1.000 pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ERBB4 HGNC ENSG00000178568 tier1 - - 101 0 0.00 63 49 43.75 ERC2 0 genome.wustl.edu 37 3 55544641 55544641 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 55544641 55544641 G T SNP ERC2 ENST00000469720 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors ERC2 HGNC ENSG00000187672 tier1 - - 29 0 0.00 11 4 26.67 EVC2 0 genome.wustl.edu 37 4 5544884 5544884 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 5544884 5544884 A C SNP EVC2 ENST00000344938 human ensembl 74_37 -1 known missense c.3715 p.L1239V 0.001 NULL pfam_Limbin - no_errors EVC2 HGNC ENSG00000173040 tier1 - - 27 0 0.00 22 7 24.14 EZR 0 genome.wustl.edu 37 6 159190425 159190425 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 159190425 159190425 G T SNP EZR ENST00000337147 human ensembl 74_37 -1 known missense c.1277 p.A426D 0.979 pirsf_ERM,pfam_ERM_C_dom pirsf_ERM,pfam_ERM_C_dom,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin_tail,smart_Band_41_domain,prints_Ez/rad/moesin_like,prints_Band_41_fam,pfscan_FERM_domain - no_errors EZR HGNC ENSG00000092820 21 0 0.00 29 2 6.45 FAM107B 0 genome.wustl.edu 37 10 14709635 14709635 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 14709635 14709635 G T SNP FAM107B ENST00000181796 human ensembl 74_37 -1 known nonsense c.467 p.S156* 0.968 NULL pfam_DUF1151 - no_errors FAM107B HGNC ENSG00000065809 tier1 - - 40 0 0.00 61 4 6.15 FAM122A 0 genome.wustl.edu 37 9 71395941 71395941 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 71395941 71395941 G T SNP FAM122A ENST00000394264 human ensembl 74_37 +1 known missense c.861 p.K287N 1.000 NULL NULL - no_errors FAM122A HGNC ENSG00000187866 40 0 0.00 37 4 9.76 FAM122B 0 genome.wustl.edu 37 X 133906176 133906176 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 133906176 133906176 G T SNP FAM122B ENST00000343004 human ensembl 74_37 -1 known missense c.794 p.P265H 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 23 0 0.00 31 4 11.43 FAM157C 0 genome.wustl.edu 37 16 90229187 90229187 + RNA SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 90229187 90229187 G A SNP FAM157C ENST00000570230 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM157C HGNC ENSG00000260528 tier1 - - 32 0 0.00 24 16 40.00 FAM163A 0 genome.wustl.edu 37 1 179783228 179783228 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 179783228 179783228 C T SNP FAM163A ENST00000341785 human ensembl 74_37 +1 known silent c.408 p.S136 0.280 NULL NULL - no_errors FAM163A HGNC ENSG00000143340 tier1 - - 25 0 0.00 34 11 24.44 FAM179B 0 genome.wustl.edu 37 14 45542540 45542540 + Missense_Mutation SNP G G C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 45542540 45542540 G C SNP FAM179B ENST00000361577 human ensembl 74_37 +1 known missense c.4939 p.E1647Q 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FAM179B HGNC ENSG00000198718 tier1 - - 40 0 0.00 14 6 30.00 FAM186B 0 genome.wustl.edu 37 12 49993827 49993827 + Silent SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 49993827 49993827 C A SNP FAM186B ENST00000257894 human ensembl 74_37 -1 known silent c.1596 p.R532 0.004 NULL NULL - no_errors FAM186B HGNC ENSG00000135436 tier1 - - 37 0 0.00 36 17 32.08 FAM230B 0 genome.wustl.edu 37 22 21538079 21538079 + RNA SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 21538079 21538079 A G SNP FAM230B ENST00000451257 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors FAM230B HGNC ENSG00000215498 25 0 0.00 79 7 8.14 FAM47C 0 genome.wustl.edu 37 X 37028366 37028366 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 37028366 37028366 C T SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1883 p.S628F 0.008 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 115 0 0.00 53 42 44.21 FARSB 0 genome.wustl.edu 37 2 223478626 223478626 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 223478626 223478626 G T SNP FARSB ENST00000281828 human ensembl 74_37 -1 known missense c.1366 p.P456T 1.000 tigrfam_Phe-tRNA-synth_IIc_bsu_arc pfam_B3/B4_tRNA-bd,pfam_tRNA_synthase_B5-dom,superfamily_DNA-bd_dom_put,superfamily_Phe-tRNA_synthase_B3/B4,smart_B3/B4_tRNA-bd,smart_tRNA_synthase_B5-dom,tigrfam_Phe-tRNA-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 tier1 - - 29 0 0.00 37 4 9.76 FAT1 0 genome.wustl.edu 37 4 187629119 187629119 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 187629119 187629119 C T SNP FAT1 ENST00000441802 human ensembl 74_37 -1 known silent c.1863 p.S621 0.908 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,prints_Cadherin,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin - no_errors FAT1 HGNC ENSG00000083857 tier1 - - 26 0 0.00 24 5 17.24 FAT3 0 genome.wustl.edu 37 11 92533265 92533265 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 92533265 92533265 G T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.7086 p.L2362F 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 30 0 0.00 49 4 7.55 FAT4 0 genome.wustl.edu 37 4 126372688 126372688 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 126372688 126372688 A C SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.10517 p.N3506T 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 29 0 0.00 18 7 28.00 FATE1 0 genome.wustl.edu 37 X 150884596 150884596 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 150884596 150884596 C A SNP FATE1 ENST00000370350 human ensembl 74_37 +1 known missense c.5 p.A2E 0.090 NULL pfam_FATE/Miff/Tango-11 - no_errors FATE1 HGNC ENSG00000147378 tier1 - - 16 0 0.00 14 6 30.00 FBN2 0 genome.wustl.edu 37 5 127645012 127645012 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 127645012 127645012 C A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.5280 p.R1760S 1.000 pirsf_FBN,pfam_TB_dom,superfamily_TB_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 34 0 0.00 5 19 76.00 FBN3 0 genome.wustl.edu 37 19 8145962 8145962 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 8145962 8145962 G T SNP FBN3 ENST00000270509 human ensembl 74_37 -1 known missense c.7378 p.L2460I 1.000 pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN3 HGNC ENSG00000142449 tier1 - - 75 0 0.00 70 4 5.41 FBP2 0 genome.wustl.edu 37 9 97355869 97355869 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 97355869 97355869 G T SNP FBP2 ENST00000375337 human ensembl 74_37 -1 known nonsense c.140 p.S47* 1.000 pfam_FBPase_class-1/SBPase,prints_FBPtase pfam_FBPase_class-1/SBPase,pfam_Inositol_monophosphatase,prints_FBPtase,prints_SBPase - no_errors FBP2 HGNC ENSG00000130957 53 0 0.00 40 3 6.98 FBXW2 0 genome.wustl.edu 37 9 123527004 123527004 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 123527004 123527004 G T SNP FBXW2 ENST00000608872 human ensembl 74_37 -1 known missense c.1198 p.R400S 1.000 superfamily_WD40_repeat_dom pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW2 HGNC ENSG00000119402 20 0 0.00 18 2 10.00 FCGBP 0 genome.wustl.edu 37 19 40364341 40364341 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 40364341 40364341 C T SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known silent c.14301 p.S4767 0.000 pfam_TIL_dom,superfamily_TIL_dom,smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 rs143346927 - 72 0 0.00 43 23 34.85 FFAR3 0 genome.wustl.edu 37 19 35850546 35850546 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 35850546 35850546 G A SNP FFAR3 ENST00000327809 human ensembl 74_37 +1 known missense c.754 p.G252S 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_orph - no_errors FFAR3 HGNC ENSG00000185897 tier1 - - 227 0 0.00 202 73 26.45 FGF13 0 genome.wustl.edu 37 X 137715091 137715091 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 137715091 137715091 T G SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.688 p.S230R 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 38 0 0.00 33 10 23.26 FHL5 0 genome.wustl.edu 37 6 97058632 97058632 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 97058632 97058632 G T SNP FHL5 ENST00000326771 human ensembl 74_37 +1 known missense c.689 p.S230I 0.921 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors FHL5 HGNC ENSG00000112214 26 0 0.00 46 3 6.12 FILIP1 0 genome.wustl.edu 37 6 76023490 76023490 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 76023490 76023490 G T SNP FILIP1 ENST00000237172 human ensembl 74_37 -1 known missense c.2058 p.H686Q 1.000 NULL pfam_Cortactin-binding_p2_N,prints_Tropomyosin - no_errors FILIP1 HGNC ENSG00000118407 tier1 - - 56 0 0.00 72 4 5.26 FMNL1 0 genome.wustl.edu 37 17 43314658 43314658 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 43314658 43314658 G T SNP FMNL1 ENST00000328118 human ensembl 74_37 +1 known missense c.734 p.S245I 1.000 pfam_GTPase-bd,superfamily_ARM-type_fold pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL1 HGNC ENSG00000184922 tier1 - - 34 0 0.00 42 4 8.51 FMNL3 0 genome.wustl.edu 37 12 50043574 50043574 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 50043574 50043574 C T SNP FMNL3 ENST00000293590 human ensembl 74_37 -1 known missense c.2135 p.R712H 1.000 pfam_FH2_Formin,smart_FH2_Formin pfam_FH2_Formin,pfam_FH3_dom,pfam_GTPase-bd,superfamily_ARM-type_fold,smart_FH2_Formin - no_errors FMNL3 HGNC ENSG00000161791 tier1 - - 18 0 0.00 13 9 40.91 FOXK1 0 genome.wustl.edu 37 7 4799119 4799119 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 4799119 4799119 C T SNP FOXK1 ENST00000328914 human ensembl 74_37 +1 known missense c.1589 p.T530I 0.366 NULL pfam_TF_fork_head,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,smart_TF_fork_head,pfscan_FHA_dom,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXK1 HGNC ENSG00000164916 tier1 - - 61 0 0.00 49 25 33.78 FRMD1 0 genome.wustl.edu 37 6 168475955 168475955 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 168475955 168475955 C T SNP FRMD1 ENST00000283309 human ensembl 74_37 -1 known missense c.274 p.A92T 0.758 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain - no_errors FRMD1 HGNC ENSG00000153303 tier1 - - 10 0 0.00 7 4 36.36 FRMD3 0 genome.wustl.edu 37 9 85862863 85862863 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 85862863 85862863 G T SNP FRMD3 ENST00000304195 human ensembl 74_37 -1 known missense c.1764 p.H588Q 0.519 NULL pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FRMD3 HGNC ENSG00000172159 tier1 - - 36 0 0.00 42 4 8.70 FSHR 0 genome.wustl.edu 37 2 49195944 49195944 + Silent SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 49195944 49195944 A C SNP FSHR ENST00000406846 human ensembl 74_37 -1 known silent c.747 p.T249 0.908 NULL pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_7TM,prints_FSH_rcpt,prints_Gphrmn_rcpt_fam,prints_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 tier1 - - 19 0 0.00 9 7 43.75 FSTL5 0 genome.wustl.edu 37 4 162697220 162697220 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 162697220 162697220 T C SNP FSTL5 ENST00000306100 human ensembl 74_37 -1 known missense c.416 p.K139R 1.000 NULL pfam_Ig_I-set,pfam_Kazal_dom,pfam_Ig_V-set,smart_Kazal_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_EF_hand_dom,pfscan_Ig-like_dom - no_errors FSTL5 HGNC ENSG00000168843 tier1 - - 17 0 0.00 12 5 29.41 FUK 0 genome.wustl.edu 37 16 70501299 70501299 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 70501299 70501299 G T SNP FUK ENST00000378912 human ensembl 74_37 +1 known silent c.603 p.R201 0.997 pfam_Fucokinase pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase - no_errors FUK HGNC ENSG00000157353 tier1 - - 30 0 0.00 69 4 5.48 FZD9 0 genome.wustl.edu 37 7 72849881 72849881 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 72849881 72849881 T C SNP FZD9 ENST00000344575 human ensembl 74_37 +1 known missense c.1544 p.F515S 1.000 pfam_Frizzled,pfscan_GPCR_2-like,prints_Frizzled pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled - no_errors FZD9 HGNC ENSG00000188763 tier1 - - 15 0 0.00 13 7 35.00 GABRA2 0 genome.wustl.edu 37 4 46252548 46252548 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 46252548 46252548 A G SNP GABRA2 ENST00000540012 human ensembl 74_37 -1 known missense c.1148 p.L383P 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa2_rcpt,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa2_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors GABRA2 HGNC ENSG00000151834 tier1 - - 31 0 0.00 14 10 41.67 GABRA5 0 genome.wustl.edu 37 15 27193133 27193133 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 27193133 27193133 A G SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known missense c.1142 p.K381R 0.987 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABBAa5_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 tier1 - - 21 0 0.00 11 5 31.25 GABRA5 0 genome.wustl.edu 37 15 27193248 27193248 + Nonsense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 27193248 27193248 C A SNP GABRA5 ENST00000335625 human ensembl 74_37 +1 known nonsense c.1257 p.Y419* 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAa_rcpt,prints_GABAA_rcpt,prints_GABBAa5_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRA5 HGNC ENSG00000186297 tier1 - - 22 0 0.00 8 13 61.90 GABRE 0 genome.wustl.edu 37 X 151143045 151143045 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 151143045 151143045 G T SNP GABRE ENST00000370328 human ensembl 74_37 -1 known nonsense c.53 p.S18* 0.003 NULL pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAe_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRE HGNC ENSG00000102287 40 0 0.00 23 4 14.81 GALNT15 0 genome.wustl.edu 37 3 16237412 16237412 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 16237412 16237412 G T SNP GALNT15 ENST00000339732 human ensembl 74_37 +1 known missense c.685 p.V229L 1.000 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT15 HGNC ENSG00000131386 45 0 0.00 35 2 5.41 GBP4 0 genome.wustl.edu 37 1 89659042 89659042 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 89659042 89659042 G T SNP GBP4 ENST00000355754 human ensembl 74_37 -1 known missense c.417 p.S139R 0.988 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 GBP4 HGNC ENSG00000162654 tier1 - - 40 0 0.00 44 4 8.33 GLI1 0 genome.wustl.edu 37 12 57863271 57863271 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 57863271 57863271 G T SNP GLI1 ENST00000228682 human ensembl 74_37 +1 known missense c.1366 p.G456W 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI1 HGNC ENSG00000111087 40 0 0.00 49 3 5.77 GNGT1 0 genome.wustl.edu 37 7 93536047 93536047 + Splice_Site SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 93536047 93536047 G T SNP GNGT1 ENST00000248572 human ensembl 74_37 +1 known splice_site c.1-1 e1-1 0.000 - - - no_errors GNGT1 HGNC ENSG00000127928 tier1 - - 28 0 0.00 20 3 13.04 GOLGA6L7P 0 genome.wustl.edu 37 15 29093679 29093679 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 29093679 29093679 G T SNP GOLGA6L7P ENST00000569815 human ensembl 74_37 -1 putative rna NULL NULL 0.008 - - - no_errors GOLGA6L7P HGNC ENSG00000261649 tier1 - - 27 0 0.00 13 9 40.91 GPR107 0 genome.wustl.edu 37 9 132854566 132854566 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 132854566 132854566 G T SNP GPR107 ENST00000372410 human ensembl 74_37 +1 known missense c.769 p.A257S 0.996 pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt pfam_TM_rcpt_euk,pfam_Intimal_thickness-rel_rcpt - no_errors GPR107 HGNC ENSG00000148358 tier1 - - 30 0 0.00 25 4 13.79 GPR155 0 genome.wustl.edu 37 2 175333663 175333663 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 175333663 175333663 T G SNP GPR155 ENST00000295500 human ensembl 74_37 -1 known missense c.1159 p.S387R 1.000 NULL pfam_Auxin_eff,pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom - no_errors GPR155 HGNC ENSG00000163328 tier1 - - 18 0 0.00 9 5 35.71 GPR4 0 genome.wustl.edu 37 19 46094360 46094360 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 46094360 46094360 G T SNP GPR4 ENST00000323040 human ensembl 74_37 -1 known silent c.765 p.P255 0.994 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_GPR4_orph,prints_GPCR_Rhodpsn,prints_Psych_rcpt - no_errors GPR4 HGNC ENSG00000177464 tier1 - - 28 0 0.00 36 4 10.00 GPRC6A 0 genome.wustl.edu 37 6 117114295 117114295 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 117114295 117114295 G T SNP GPRC6A ENST00000310357 human ensembl 74_37 -1 known silent c.1791 p.L597 0.015 pfscan_GPCR_3_C pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_vmron_rcpt_2 - no_errors GPRC6A HGNC ENSG00000173612 tier1 - - 20 0 0.00 22 4 15.38 GRIK5 0 genome.wustl.edu 37 19 42525545 42525545 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 42525545 42525545 G T SNP GRIK5 ENST00000301218 human ensembl 74_37 -1 known silent c.1779 p.G593 0.998 pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt - no_errors GRIK5 HGNC ENSG00000105737 tier1 - - 35 0 0.00 24 11 31.43 GRIPAP1 0 genome.wustl.edu 37 X 48847591 48847591 + RNA SNP G G C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 48847591 48847591 G C SNP GRIPAP1 ENST00000473581 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors GRIPAP1 HGNC ENSG00000068400 tier1 - - 9 0 0.00 13 7 35.00 GRM6 0 genome.wustl.edu 37 5 178410025 178410025 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 178410025 178410025 G T SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known silent c.2322 p.G774 0.001 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 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_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 44 0 0.00 27 2 6.90 GVINP1 0 genome.wustl.edu 37 11 6736736 6736736 + RNA SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 6736736 6736736 G A SNP GVINP1 ENST00000526769 human ensembl 74_37 -1 known rna NULL NULL 0.991 - - - no_errors GVINP1 HGNC ENSG00000254838 tier1 - - 30 0 0.00 23 11 32.35 HACL1 0 genome.wustl.edu 37 3 15609465 15609465 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 15609465 15609465 A C SNP HACL1 ENST00000321169 human ensembl 74_37 -1 known missense c.1295 p.F432C 1.000 pfam_TPP_enzyme-bd_C pfam_Thiamin_PyroP_enz_TPP-bd_dom,pfam_Thiamin_PyroP_enz_cen_dom,pfam_TPP_enzyme-bd_C,pfam_CO_DH_CoA_synth - no_errors HACL1 HGNC ENSG00000131373 tier1 - - 30 0 0.00 18 13 41.94 HIP1 0 genome.wustl.edu 37 7 75174482 75174482 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 75174482 75174482 G T SNP HIP1 ENST00000336926 human ensembl 74_37 -1 known missense c.2564 p.T855K 1.000 pfam_ILWEQ_dom,smart_ILWEQ_dom,pfscan_ILWEQ_dom pfam_ANTH_dom,pfam_ILWEQ_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,superfamily_ARM-type_fold,superfamily_Prefoldin,smart_Epsin-like_N,smart_ILWEQ_dom,pfscan_Epsin-like_N,pfscan_ILWEQ_dom - no_errors HIP1 HGNC ENSG00000127946 33 0 0.00 30 3 9.09 HMCN1 0 genome.wustl.edu 37 1 186056742 186056742 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 186056742 186056742 G T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known missense c.9328 p.A3110S 0.130 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 46 0 0.00 58 4 6.45 HMCN1 0 genome.wustl.edu 37 1 186094842 186094843 + Frame_Shift_Ins INS - - A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 186094842 186094843 - A INS HMCN1 ENST00000271588 human ensembl 74_37 +1 known frame_shift_ins c.12606_12607 p.D4204fs 1.000:1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 31 0 0.00 18 26 59.09 HSD17B12 0 genome.wustl.edu 37 11 43772501 43772501 + Silent SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 43772501 43772501 A G SNP HSD17B12 ENST00000278353 human ensembl 74_37 +1 known silent c.201 p.A67 1.000 pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B12 HGNC ENSG00000149084 tier1 - - 38 0 0.00 37 12 24.49 HSPG2 0 genome.wustl.edu 37 1 22172708 22172708 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 22172708 22172708 G T SNP HSPG2 ENST00000374695 human ensembl 74_37 -1 known missense c.8357 p.A2786D 0.680 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 51 0 0.00 62 4 6.06 HUWE1 0 genome.wustl.edu 37 X 53575167 53575167 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 53575167 53575167 C T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.10103 p.G3368D 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 36 0 0.00 16 17 51.52 HUWE1 0 genome.wustl.edu 37 X 53596600 53596600 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 53596600 53596600 G T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.6500 p.A2167D 1.000 NULL pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 29 0 0.00 34 4 10.53 HUWE1 0 genome.wustl.edu 37 X 53658551 53658551 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 53658551 53658551 G T SNP HUWE1 ENST00000262854 human ensembl 74_37 -1 known missense c.661 p.L221I 1.000 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/Ts_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 tier1 - - 30 0 0.00 27 13 32.50 HYDIN 0 genome.wustl.edu 37 16 71098610 71098610 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 71098610 71098610 G T SNP HYDIN ENST00000448089 human ensembl 74_37 -1 known missense c.2209 p.Q737K 1.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 33 0 0.00 33 2 5.71 ICA1L 0 genome.wustl.edu 37 2 203693680 203693680 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 203693680 203693680 C T SNP ICA1L ENST00000358299 human ensembl 74_37 -1 known missense c.53 p.R18K 1.000 pfam_AH_dom pfam_Islet_autoAg_Ica1_C,pfam_AH_dom,pfscan_AH_dom - no_errors ICA1L HGNC ENSG00000163596 tier1 - - 46 0 0.00 27 12 30.00 ICAM2 0 genome.wustl.edu 37 17 62082507 62082507 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 62082507 62082507 G T SNP ICAM2 ENST00000412356 human ensembl 74_37 -1 known silent c.288 p.S96 0.000 pfam_ICAM_N pfam_ICAM_N,prints_ICAM_VCAM_N,prints_ICAM - no_errors ICAM2 HGNC ENSG00000108622 tier1 - - 54 0 0.00 72 4 5.26 IFNA16 0 genome.wustl.edu 37 9 21217165 21217165 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 21217165 21217165 A C SNP IFNA16 ENST00000380216 human ensembl 74_37 -1 known missense c.140 p.I47S 0.006 pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core pfam_Interferon_alpha/beta/delta,superfamily_4_helix_cytokine-like_core,smart_Interferon_alpha/beta/delta,prints_Interferon_alpha/beta/delta - no_errors IFNA16 HGNC ENSG00000147885 tier1 - - 70 0 0.00 58 36 38.30 IGDCC3 0 genome.wustl.edu 37 15 65667684 65667684 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 65667684 65667684 C T SNP IGDCC3 ENST00000327987 human ensembl 74_37 -1 known missense c.160 p.V54I 0.131 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom 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 IGDCC3 HGNC ENSG00000174498 tier1 - - 28 0 0.00 9 8 47.06 IGSF22 0 genome.wustl.edu 37 11 18739479 18739479 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 18739479 18739479 C T SNP IGSF22 ENST00000513874 human ensembl 74_37 -1 known silent c.972 p.L324 0.866 smart_Ig_sub 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 IGSF22 HGNC ENSG00000179057 tier1 - - 55 0 0.00 57 4 6.56 IL13RA2 0 genome.wustl.edu 37 X 114242551 114242551 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 114242551 114242551 A C SNP IL13RA2 ENST00000243213 human ensembl 74_37 -1 known missense c.941 p.I314S 1.000 superfamily_Fibronectin_type3 pfam_IL-6_rcpt_alpha-bd,superfamily_Fibronectin_type3 - no_errors IL13RA2 HGNC ENSG00000123496 tier1 - - 80 0 0.00 53 31 36.90 IL27 0 genome.wustl.edu 37 16 28515212 28515212 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 28515212 28515212 T C SNP IL27 ENST00000356897 human ensembl 74_37 -1 known missense c.191 p.Q64R 0.027 superfamily_4_helix_cytokine-like_core superfamily_4_helix_cytokine-like_core - no_errors IL27 HGNC ENSG00000197272 tier1 - - 16 0 0.00 13 6 31.58 ILDR2 0 genome.wustl.edu 37 1 166892005 166892005 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 166892005 166892005 C A SNP ILDR2 ENST00000271417 human ensembl 74_37 -1 known missense c.1036 p.D346Y 0.364 NULL pfam_LISCH7,smart_Ig_sub - no_errors ILDR2 HGNC ENSG00000143195 tier1 - - 32 0 0.00 26 28 51.85 ING5 0 genome.wustl.edu 37 2 242659480 242659480 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 242659480 242659480 G T SNP ING5 ENST00000482774 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors ING5 HGNC ENSG00000168395 tier1 - - 45 0 0.00 43 4 8.51 INPP5B 0 genome.wustl.edu 37 1 38406367 38406367 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 38406367 38406367 G T SNP INPP5B ENST00000373023 human ensembl 74_37 -1 known silent c.384 p.A128 0.996 NULL pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors INPP5B HGNC ENSG00000204084 tier1 - - 38 0 0.00 45 4 8.16 INPP5F 0 genome.wustl.edu 37 10 121580378 121580378 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 121580378 121580378 G T SNP INPP5F ENST00000361976 human ensembl 74_37 +1 known missense c.1907 p.R636I 1.000 pfam_Inositol_phosphatase pfam_Syja_N,pfam_Inositol_phosphatase,pfscan_Syja_N - no_errors INPP5F HGNC ENSG00000198825 tier1 - - 40 0 0.00 61 4 6.15 INTS6 0 genome.wustl.edu 37 13 51963521 51963521 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 13 51963521 51963521 G T SNP INTS6 ENST00000420668 human ensembl 74_37 -1 known nonsense c.489 p.C163* 1.000 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 tier1 - - 36 0 0.00 47 4 7.84 IPO8 0 genome.wustl.edu 37 12 30787065 30787065 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 30787065 30787065 G T SNP IPO8 ENST00000256079 human ensembl 74_37 -1 known missense c.2851 p.L951I 0.998 superfamily_ARM-type_fold pfam_Importin-beta_N,pfam_Cse1,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N - no_errors IPO8 HGNC ENSG00000133704 47 0 0.00 46 4 8.00 IQSEC2 0 genome.wustl.edu 37 X 53263497 53263497 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 53263497 53263497 G A SNP IQSEC2 ENST00000396435 human ensembl 74_37 -1 known silent c.4371 p.P1457 0.993 NULL pfam_Sec7_dom,superfamily_Sec7_dom,superfamily_P-loop_NTPase,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7_dom - no_errors IQSEC2 HGNC ENSG00000124313 tier1 - - 8 0 0.00 6 8 57.14 ITGA10 0 genome.wustl.edu 37 1 145539689 145539689 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 145539689 145539689 A G SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known missense c.3121 p.S1041G 1.000 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 25 0 0.00 14 17 54.84 ITGB4 0 genome.wustl.edu 37 17 73736505 73736505 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 73736505 73736505 G A SNP ITGB4 ENST00000200181 human ensembl 74_37 +1 known missense c.2513 p.R838Q 0.997 pirsf_Integrin_bsu-4 pirsf_Integrin_bsu-4,pfam_Integrin_bsu_N,pfam_Fibronectin_type3,pfam_Calx_beta,pfam_Integrin_bsu_tail,pfam_EGF_extracell,superfamily_Fibronectin_type3,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like_fold,smart_Integrin_bsu_N,smart_Calx_beta,smart_Fibronectin_type3,prints_Integrin_bsu,pfscan_Fibronectin_type3 - no_errors ITGB4 HGNC ENSG00000132470 tier1 - - 32 0 0.00 11 18 62.07 ITSN2 0 genome.wustl.edu 37 2 24432863 24432863 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 24432863 24432863 G T SNP ITSN2 ENST00000355123 human ensembl 74_37 -1 known silent c.4297 p.R1433 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_dom,superfamily_DH-domain,superfamily_C2_dom,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_dom,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_dom,pfscan_EF_hand_dom,pfscan_EPS15_homology,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox - no_errors ITSN2 HGNC ENSG00000198399 49 0 0.00 50 3 5.56 IZUMO3 0 genome.wustl.edu 37 9 24543261 24543261 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 24543261 24543261 T C SNP IZUMO3 ENST00000543880 human ensembl 74_37 -1 novel missense c.686 p.E229G 0.000 NULL NULL - no_errors IZUMO3 HGNC ENSG00000205442 tier1 - - 26 0 0.00 34 20 37.04 JAG2 0 genome.wustl.edu 37 14 105622219 105622219 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 105622219 105622219 G A SNP JAG2 ENST00000331782 human ensembl 74_37 -1 known missense c.583 p.R195C 0.998 pfam_DSL,smart_DSL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom,pfscan_VWF_C - no_errors JAG2 HGNC ENSG00000184916 tier1 - - 32 0 0.00 10 10 50.00 JSRP1 0 genome.wustl.edu 37 19 2255274 2255274 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 2255274 2255274 C T SNP JSRP1 ENST00000300961 human ensembl 74_37 -1 known missense c.40 p.G14S 0.947 NULL NULL - no_errors JSRP1 HGNC ENSG00000167476 tier1 rs150323105 - 56 0 0.00 52 22 29.73 KBTBD3 0 genome.wustl.edu 37 11 105923578 105923578 + Nonstop_Mutation SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 105923578 105923578 C G SNP KBTBD3 ENST00000526793 human ensembl 74_37 -1 known nonstop c.1838 p.*613S 0.005 NULL pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KBTBD3 HGNC ENSG00000182359 tier1 - - 23 0 0.00 19 12 38.71 KCNJ12 0 genome.wustl.edu 37 17 21319673 21319673 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 21319673 21319673 T G SNP KCNJ12 ENST00000331718 human ensembl 74_37 +1 known missense c.1019 p.I340S 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2 - no_errors KCNJ12 HGNC ENSG00000184185 tier1 - - 66 0 0.00 74 7 8.64 KCNJ9 0 genome.wustl.edu 37 1 160054260 160054260 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 160054260 160054260 C T SNP KCNJ9 ENST00000368088 human ensembl 74_37 +1 known missense c.440 p.S147F 1.000 pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.3 - no_errors KCNJ9 HGNC ENSG00000162728 tier1 - - 46 0 0.00 55 4 6.78 KIAA0319 0 genome.wustl.edu 37 6 24547478 24547478 + Missense_Mutation SNP T T A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 24547478 24547478 T A SNP KIAA0319 ENST00000378214 human ensembl 74_37 -1 known missense c.3134 p.K1045M 0.192 NULL pfam_PKD/REJ-like,superfamily_PKD_dom,smart_MANSC_N,smart_Fibronectin_type3,smart_PKD/Chitinase_dom,pfscan_MANSC,pfscan_PKD_dom - no_errors KIAA0319 HGNC ENSG00000137261 tier1 - - 40 0 0.00 38 20 33.90 KIAA1033 0 genome.wustl.edu 37 12 105512234 105512234 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 105512234 105512234 G T SNP KIAA1033 ENST00000332180 human ensembl 74_37 +1 known missense c.446 p.C149F 1.000 NULL NULL - no_errors KIAA1033 HGNC ENSG00000136051 36 0 0.00 41 4 8.89 KIAA1199 0 genome.wustl.edu 37 15 81221497 81221497 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 81221497 81221497 G T SNP KIAA1199 ENST00000220244 human ensembl 74_37 +1 known missense c.2594 p.R865M 1.000 superfamily_Pectin_lyase_fold/virulence pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence - no_errors KIAA1199 HGNC ENSG00000103888 37 0 0.00 25 3 10.71 KIAA1429 0 genome.wustl.edu 37 8 95539448 95539448 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 95539448 95539448 C A SNP KIAA1429 ENST00000297591 human ensembl 74_37 -1 known missense c.1024 p.D342Y 1.000 NULL superfamily_ARM-type_fold - no_errors KIAA1429 HGNC ENSG00000164944 28 0 0.00 20 2 9.09 KIAA1524 0 genome.wustl.edu 37 3 108287026 108287026 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 108287026 108287026 C A SNP KIAA1524 ENST00000295746 human ensembl 74_37 -1 known missense c.1249 p.A417S 0.975 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors KIAA1524 HGNC ENSG00000163507 tier1 - - 36 0 0.00 25 9 25.71 KIAA1804 0 genome.wustl.edu 37 1 233511698 233511699 + Frame_Shift_Del DEL AC AC - TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 AC AC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 233511698 233511699 AC - DEL KIAA1804 ENST00000366624 human ensembl 74_37 +1 known frame_shift_del c.1712_1713 p.T572fs 1.000:0.997 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 tier1 32 0 0.00 8 21 72.41 KIAA1841 0 genome.wustl.edu 37 2 61331022 61331022 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 61331022 61331022 G T SNP KIAA1841 ENST00000356719 human ensembl 74_37 +1 known missense c.1400 p.R467L 0.471 NULL pfam_DUF3342,superfamily_BTB/POZ_fold,superfamily_Homeodomain-like - no_errors KIAA1841 HGNC ENSG00000162929 57 0 0.00 52 3 5.45 KIAA2018 0 genome.wustl.edu 37 3 113377481 113377482 + Frame_Shift_Ins INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 113377481 113377482 - T INS KIAA2018 ENST00000316407 human ensembl 74_37 -1 known frame_shift_ins c.3048_3047 p.N1016fs 0.174:0.827 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 18 0 0.00 19 3 13.64 KIR2DL4 0 genome.wustl.edu 37 19 55315144 55315144 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 55315144 55315144 T C SNP KIR2DL4 ENST00000345540 human ensembl 74_37 +1 known missense c.38 p.L13P 0.494 NULL pfam_Immunoglobulin,smart_Ig_sub - no_errors KIR2DL4 HGNC ENSG00000189013 tier1 - - 9 0 0.00 3 3 50.00 KITLG 0 genome.wustl.edu 37 12 88887102 88887102 + RNA SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 88887102 88887102 A G SNP KITLG ENST00000378535 human ensembl 74_37 -1 known rna NULL NULL 0.997 - - - no_errors KITLG HGNC ENSG00000049130 tier1 - - 61 0 0.00 15 15 50.00 KPNA5 0 genome.wustl.edu 37 6 117023196 117023196 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 117023196 117023196 G T SNP KPNA5 ENST00000356348 human ensembl 74_37 +1 known missense c.450 p.W150C 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB - no_errors KPNA5 HGNC ENSG00000196911 27 0 0.00 30 2 6.25 KRT32 0 genome.wustl.edu 37 17 39616470 39616470 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 39616470 39616470 G T SNP KRT32 ENST00000225899 human ensembl 74_37 -1 known silent c.1239 p.S413 0.019 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 tier1 - - 73 0 0.00 58 5 7.94 KRTAP10-7 0 genome.wustl.edu 37 21 46021305 46021305 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 21 46021305 46021305 A C SNP KRTAP10-7 ENST00000380102 human ensembl 74_37 +1 known missense c.784 p.T262P 0.000 NULL NULL - no_errors KRTAP10-7 HGNC ENSG00000205441 tier1 - - 74 0 0.00 58 44 43.14 KRTAP12-3 0 genome.wustl.edu 37 21 46078017 46078017 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 21 46078017 46078017 A G SNP KRTAP12-3 ENST00000397907 human ensembl 74_37 +1 known missense c.121 p.T41A 0.000 NULL NULL - no_errors KRTAP12-3 HGNC ENSG00000205439 tier1 - - 39 0 0.00 30 13 30.23 LAMA1 0 genome.wustl.edu 37 18 6959467 6959467 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 6959467 6959467 C T SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7651 p.G2551R 0.981 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,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 - - 17 0 0.00 25 6 19.35 LAMC1 0 genome.wustl.edu 37 1 183095293 183095293 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 183095293 183095293 G T SNP LAMC1 ENST00000258341 human ensembl 74_37 +1 known missense c.2840 p.C947F 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 70 0 0.00 94 5 5.05 LBX1 0 genome.wustl.edu 37 10 102988555 102988555 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 102988555 102988555 G A SNP LBX1 ENST00000370193 human ensembl 74_37 -1 known silent c.18 p.D6 0.998 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors LBX1 HGNC ENSG00000138136 tier1 - - 23 0 0.00 16 14 46.67 LCNL1 0 genome.wustl.edu 37 9 139878960 139878960 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 139878960 139878960 G T SNP LCNL1 ENST00000408973 human ensembl 74_37 +1 known missense c.141 p.Q47H 0.937 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCNL1 HGNC ENSG00000214402 tier1 - - 34 0 0.00 41 5 10.87 LCOR 0 genome.wustl.edu 37 10 98715549 98715549 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 98715549 98715549 G T SNP LCOR ENST00000356016 human ensembl 74_37 +1 known missense c.1172 p.G391V 1.000 pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq - no_errors LCOR HGNC ENSG00000196233 18 0 0.00 12 3 20.00 LETM2 0 genome.wustl.edu 37 8 38260109 38260109 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 38260109 38260109 G T SNP LETM2 ENST00000379957 human ensembl 74_37 +1 known missense c.1051 p.G351W 1.000 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 27 0 0.00 35 3 7.89 LHPP 0 genome.wustl.edu 37 10 126185530 126185530 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 126185530 126185530 G T SNP LHPP ENST00000368842 human ensembl 74_37 +1 known silent c.468 p.G156 0.886 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_hyp2,tigrfam_HAD-SF_hydro_IIA - no_errors LHPP HGNC ENSG00000107902 tier1 rs146652970 - 26 0 0.00 34 4 10.53 LILRB5 0 genome.wustl.edu 37 19 54756400 54756400 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 54756400 54756400 C T SNP LILRB5 ENST00000450632 human ensembl 74_37 -1 known missense c.1460 p.R487H 0.000 NULL smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LILRB5 HGNC ENSG00000105609 tier1 - - 18 0 0.00 21 21 50.00 LINC00221 0 genome.wustl.edu 37 14 106950223 106950223 + RNA SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 106950223 106950223 T C SNP LINC00221 ENST00000334298 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors LINC00221 HGNC ENSG00000187156 tier1 - - 65 0 0.00 37 18 32.73 LINC00469 0 genome.wustl.edu 37 17 71819917 71819917 + RNA SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 71819917 71819917 G A SNP LINC00469 ENST00000321800 human ensembl 74_37 -1 known rna NULL NULL 0.038 - - - no_errors LINC00469 HGNC ENSG00000177338 tier1 - - 39 0 0.00 11 20 64.52 LIPG 0 genome.wustl.edu 37 18 47107823 47107823 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 47107823 47107823 G T SNP LIPG ENST00000261292 human ensembl 74_37 +1 known missense c.832 p.V278F 0.924 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase,prints_Lipo_Lipase,prints_Lipase_hep - no_errors LIPG HGNC ENSG00000101670 35 0 0.00 34 2 5.56 LMX1B 0 genome.wustl.edu 37 9 129455488 129455488 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 129455488 129455488 C T SNP LMX1B ENST00000355497 human ensembl 74_37 +1 known silent c.627 p.S209 0.989 superfamily_Homeodomain-like pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LMX1B HGNC ENSG00000136944 tier1 - - 50 0 0.00 19 24 55.81 LOC101929438 0 genome.wustl.edu 37 1 144520978 144520978 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 144520978 144520978 G T SNP LOC101929438 ENST00000411941 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-640M9.1 Clone_based_vega_gene ENSG00000236943 tier1 - - 63 0 0.00 43 45 51.14 LOXHD1 0 genome.wustl.edu 37 18 44127006 44127006 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 44127006 44127006 G A SNP LOXHD1 ENST00000536736 human ensembl 74_37 -1 known silent c.3366 p.C1122 1.000 pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom - no_errors LOXHD1 HGNC ENSG00000167210 30 0 0.00 31 3 8.82 LPAR1 0 genome.wustl.edu 37 9 113704324 113704324 + Missense_Mutation SNP A A T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 113704324 113704324 A T SNP LPAR1 ENST00000538760 human ensembl 74_37 -1 known missense c.173 p.I58N 1.000 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_GPCR_Rhodpsn - no_errors LPAR1 HGNC ENSG00000198121 tier1 - - 14 0 0.00 18 10 35.71 LRFN1 0 genome.wustl.edu 37 19 39799033 39799033 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 39799033 39799033 C T SNP LRFN1 ENST00000248668 human ensembl 74_37 -1 known missense c.1556 p.G519E 0.178 superfamily_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN1 HGNC ENSG00000128011 tier1 - - 13 0 0.00 9 8 47.06 LRP1B 0 genome.wustl.edu 37 2 140997075 140997075 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 140997075 140997075 C T SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known missense c.13351 p.V4451I 1.000 NULL pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 27 0 0.00 31 2 6.06 LRRC16A 0 genome.wustl.edu 37 6 25620262 25620262 + RNA SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 25620262 25620262 C G SNP LRRC16A ENST00000476458 human ensembl 74_37 +1 known rna NULL NULL 0.803 - - - no_errors LRRC16A HGNC ENSG00000079691 tier1 - - 24 0 0.00 23 14 37.84 LRRC8C 0 genome.wustl.edu 37 1 90178646 90178646 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 90178646 90178646 C T SNP LRRC8C ENST00000370454 human ensembl 74_37 +1 known missense c.517 p.R173W 0.183 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8C HGNC ENSG00000171488 tier1 - - 27 0 0.00 37 17 31.48 LRRK2 0 genome.wustl.edu 37 12 40677810 40677810 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 40677810 40677810 G T SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2375 p.R792M 0.006 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 28 0 0.00 20 10 33.33 LRRTM4 0 genome.wustl.edu 37 2 77746109 77746109 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 77746109 77746109 T C SNP LRRTM4 ENST00000409911 human ensembl 74_37 -1 known missense c.889 p.T297A 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM4 HGNC ENSG00000176204 tier1 - - 22 0 0.00 27 13 32.50 LY75 0 genome.wustl.edu 37 2 160692031 160692031 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 160692031 160692031 G A SNP LY75 ENST00000554112 human ensembl 74_37 -1 known silent c.3633 p.C1211 0.007 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors LY75 HGNC ENSG00000054219 tier1 - - 42 0 0.00 27 20 42.55 MACF1 0 genome.wustl.edu 37 1 39906684 39906684 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 39906684 39906684 G T SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known nonsense c.12280 p.E4094* 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 52 0 0.00 74 5 6.33 MAGEA10 0 genome.wustl.edu 37 X 151304073 151304073 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 151304073 151304073 C T SNP MAGEA10 ENST00000244096 human ensembl 74_37 -1 known missense c.20 p.R7H 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA10 HGNC ENSG00000124260 tier1 rs145553450 - 46 0 0.00 25 15 37.50 MAPK8 0 genome.wustl.edu 37 10 49634074 49634074 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 49634074 49634074 G T SNP MAPK8 ENST00000360332 human ensembl 74_37 +1 known missense c.832 p.V278F 1.000 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,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_JNK - no_errors MAPK8 HGNC ENSG00000107643 tier1 - - 32 0 0.00 17 3 15.00 MATN2 0 genome.wustl.edu 37 8 98943561 98943561 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 98943561 98943561 G T SNP MATN2 ENST00000254898 human ensembl 74_37 +1 known missense c.523 p.D175Y 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_Matrilin_coiled-coil_trimer,smart_VWF_A,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN2 HGNC ENSG00000132561 26 0 0.00 19 2 9.52 MBD1 0 genome.wustl.edu 37 18 47799993 47799993 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 47799993 47799993 C T SNP MBD1 ENST00000424334 human ensembl 74_37 -1 known missense c.1540 p.A514T 0.996 NULL pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 tier1 - - 32 0 0.00 40 4 8.89 MDGA1 0 genome.wustl.edu 37 6 37606423 37606423 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 37606423 37606423 G A SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known missense c.2569 p.R857W 1.000 pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,smart_MAM_dom,pfscan_MAM_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 16 0 0.00 9 12 57.14 MDGA1 0 genome.wustl.edu 37 6 37626178 37626178 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 37626178 37626178 C T SNP MDGA1 ENST00000297153 human ensembl 74_37 -1 known silent c.225 p.T75 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA1 HGNC ENSG00000112139 tier1 - - 35 0 0.00 29 13 30.95 MFAP1 0 genome.wustl.edu 37 15 44107214 44107214 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 44107214 44107214 C T SNP MFAP1 ENST00000267812 human ensembl 74_37 -1 known missense c.358 p.V120I 0.998 NULL pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 tier1 - - 52 0 0.00 23 17 42.50 MICAL2 0 genome.wustl.edu 37 11 12264300 12264300 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 12264300 12264300 G T SNP MICAL2 ENST00000256194 human ensembl 74_37 +1 known missense c.2639 p.G880V 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,pfam_FAD_bind_dom,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL2 HGNC ENSG00000133816 tier1 - - 23 0 0.00 12 3 20.00 MID1 0 genome.wustl.edu 37 X 10437871 10437871 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 10437871 10437871 G T SNP MID1 ENST00000317552 human ensembl 74_37 -1 known missense c.1151 p.P384H 1.000 superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID1 HGNC ENSG00000101871 tier1 - - 11 0 0.00 7 4 36.36 MID2 0 genome.wustl.edu 37 X 107159335 107159335 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 107159335 107159335 C A SNP MID2 ENST00000262843 human ensembl 74_37 +1 known missense c.1177 p.L393I 0.999 superfamily_Fibronectin_type3 pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors MID2 HGNC ENSG00000080561 tier1 - - 21 0 0.00 18 9 33.33 MIPOL1 0 genome.wustl.edu 37 14 37754580 37754580 + Missense_Mutation SNP G G C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 37754580 37754580 G C SNP MIPOL1 ENST00000327441 human ensembl 74_37 +1 known missense c.551 p.R184T 1.000 NULL NULL - no_errors MIPOL1 HGNC ENSG00000151338 tier1 - - 52 0 0.00 41 27 39.71 MIR1293 0 genome.wustl.edu 37 12 50627994 50627995 + RNA INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 50627994 50627995 - T INS MIR1293 ENST00000408677 human ensembl 74_37 -1 known rna NULL NULL 0.533:0.541 - - - no_errors MIR1293 HGNC ENSG00000221604 tier1 15 0 0.00 17 2 10.53 MIR548A1 0 genome.wustl.edu 37 6 18572021 18572021 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 18572021 18572021 G T SNP MIR548A1 ENST00000385041 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors MIR548A1 HGNC ENSG00000207775 29 0 0.00 37 4 9.76 MIR624 0 genome.wustl.edu 37 14 31483858 31483858 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 31483858 31483858 G T SNP MIR624 ENST00000385217 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR624 HGNC ENSG00000207952 tier1 - - 48 0 0.00 76 4 5.00 MOB3B 0 genome.wustl.edu 37 9 27455333 27455333 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 27455333 27455333 G A SNP MOB3B ENST00000262244 human ensembl 74_37 -1 known silent c.216 p.N72 1.000 pfam_Mob1_phocein,superfamily_Mob1_phocein pfam_Mob1_phocein,superfamily_Mob1_phocein - no_errors MOB3B HGNC ENSG00000120162 tier1 - - 32 0 0.00 16 11 37.93 MRPS17 0 genome.wustl.edu 37 7 56022767 56022767 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 56022767 56022767 G T SNP MRPS17 ENST00000285298 human ensembl 74_37 +1 known nonsense c.289 p.G97* 0.999 superfamily_NA-bd_OB-fold pfam_Ribosomal_S17,superfamily_NA-bd_OB-fold - no_errors MRPS17 HGNC ENSG00000239789 15 0 0.00 58 4 6.45 MTFMT 0 genome.wustl.edu 37 15 65312612 65312613 + Splice_Site INS - - A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 65312612 65312613 - A INS MTFMT ENST00000220058 human ensembl 74_37 -1 known splice_site_ins c.646-3_646-2 e5-2 0.991:0.138 - - - no_errors MTFMT HGNC ENSG00000103707 tier1 8 0 0.00 6 4 40.00 MTFMT 0 genome.wustl.edu 37 15 65295576 65295576 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 65295576 65295576 G T SNP MTFMT ENST00000220058 human ensembl 74_37 -1 known silent c.994 p.R332 0.104 pfam_Formyl_trans_C,superfamily_Formyl_transferase_C-like,tigrfam_Fmt pfam_Formyl_transf_N,pfam_Formyl_trans_C,superfamily_Formyl_transf_N,superfamily_Formyl_transferase_C-like,tigrfam_Fmt - no_errors MTFMT HGNC ENSG00000103707 26 0 0.00 26 2 7.14 MTMR6 0 genome.wustl.edu 37 13 25831386 25831386 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 13 25831386 25831386 G T SNP MTMR6 ENST00000381801 human ensembl 74_37 -1 known missense c.1043 p.S348Y 1.000 smart_Tyr_Pase_cat pfam_Myotubularin-like_Pase_dom,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 21 0 0.00 31 4 11.43 MTMR8 0 genome.wustl.edu 37 X 63444240 63444240 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 63444240 63444240 A C SNP MTMR8 ENST00000453546 human ensembl 74_37 -1 known missense c.2057 p.I686S 1.000 pfam_SOCS_C,smart_SOCS_C pfam_Myotubularin-like_Pase_dom,pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors MTMR8 HGNC ENSG00000102043 tier1 - - 50 0 0.00 32 14 30.43 MTPAP 0 genome.wustl.edu 37 10 30657516 30657516 + RNA SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 30657516 30657516 T G SNP MTPAP ENST00000471055 human ensembl 74_37 -1 known rna NULL NULL 0.150 - - - no_errors MTPAP HGNC ENSG00000107951 tier1 - - 43 0 0.00 35 20 36.36 MUC16 0 genome.wustl.edu 37 19 9019293 9019293 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 9019293 9019293 A G SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.37594 p.S12532P 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 40 0 0.00 25 13 34.21 MUC16 0 genome.wustl.edu 37 19 9074068 9074068 + Missense_Mutation SNP A A T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 9074068 9074068 A T SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.13378 p.L4460M 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 65 0 0.00 44 21 32.31 MUC16 0 genome.wustl.edu 37 19 9089865 9089865 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 9089865 9089865 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known silent c.1950 p.S650 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 37 0 0.00 32 19 37.25 MUC17 0 genome.wustl.edu 37 7 100677506 100677506 + Missense_Mutation SNP G G C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 100677506 100677506 G C SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.2809 p.V937L 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 72 0 0.00 34 31 47.69 MYCBP2 0 genome.wustl.edu 37 13 77807343 77807343 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 13 77807343 77807343 G T SNP MYCBP2 ENST00000407578 human ensembl 74_37 -1 known silent c.2685 p.A895 1.000 superfamily_RCC1/BLIP-II,superfamily_ARM-type_fold pfam_PHR,pfam_Reg_chr_condens,pfam_Filamin/ABP280_repeat-like,superfamily_RCC1/BLIP-II,superfamily_Galactose-bd-like,superfamily_Ig_E-set,superfamily_ARM-type_fold,smart_Znf_RING,pfscan_Filamin/ABP280_repeat-like,pfscan_Znf_RING,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors MYCBP2 HGNC ENSG00000005810 tier1 - - 43 0 0.00 18 3 14.29 MYO18B 0 genome.wustl.edu 37 22 26423549 26423549 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 26423549 26423549 G A SNP MYO18B ENST00000335473 human ensembl 74_37 +1 known missense c.7609 p.G2537S 0.000 NULL pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,superfamily_tRNA-bd_arm,superfamily_Ribosomal_zn-bd,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO18B HGNC ENSG00000133454 13 0 0.00 8 4 33.33 MYO5A 0 genome.wustl.edu 37 15 52675383 52675383 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 52675383 52675383 G T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known missense c.1917 p.F639L 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 tier1 - - 32 0 0.00 36 4 10.00 MYO5A 0 genome.wustl.edu 37 15 52668563 52668563 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 52668563 52668563 G T SNP MYO5A ENST00000358212 human ensembl 74_37 -1 known silent c.2401 p.R801 1.000 pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 31 0 0.00 32 3 8.33 MYOM2 0 genome.wustl.edu 37 8 2092797 2092797 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 2092797 2092797 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.4290 p.D1430 0.197 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom 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 MYOM2 HGNC ENSG00000036448 tier1 - - 18 0 0.00 5 5 50.00 NAP1L3 0 genome.wustl.edu 37 X 92928150 92928150 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 92928150 92928150 T C SNP NAP1L3 ENST00000373079 human ensembl 74_37 -1 known missense c.154 p.S52G 0.006 NULL pfam_NAP_family - no_errors NAP1L3 HGNC ENSG00000186310 tier1 - - 64 0 0.00 26 20 43.48 NBPF15 0 genome.wustl.edu 37 1 148579636 148579636 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 148579636 148579636 T C SNP NBPF15 ENST00000369187 human ensembl 74_37 +1 known missense c.206 p.F69S 0.009 NULL pfam_NBPF_dom - no_errors NBPF15 HGNC ENSG00000243452 tier1 rs200012164 - 19 0 0.00 25 6 19.35 NCAM2 0 genome.wustl.edu 37 21 22790836 22790836 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 21 22790836 22790836 C A SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.1427 p.T476K 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 25 0 0.00 25 2 7.41 NCAM2 0 genome.wustl.edu 37 21 22849731 22849731 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 21 22849731 22849731 G T SNP NCAM2 ENST00000400546 human ensembl 74_37 +1 known missense c.2016 p.L672F 0.995 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom,prints_Neural_cell_adh - no_errors NCAM2 HGNC ENSG00000154654 43 0 0.00 38 2 5.00 NCOA1 0 genome.wustl.edu 37 2 24949514 24949514 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 24949514 24949514 G T SNP NCOA1 ENST00000348332 human ensembl 74_37 +1 known missense c.2656 p.G886C 0.981 pirsf_Nuclear_rcpt_coactivator pfam_DUF1518,pfam_SRC-1,pfam_Nuc_rcpt_coact_Ncoa-typ,pfam_PAS_fold,superfamily_PAS,superfamily_Nuc_rcpt_coact,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,pirsf_Nuclear_rcpt_coactivator,pfscan_PAS,pfscan_bHLH_dom - no_errors NCOA1 HGNC ENSG00000084676 55 0 0.00 57 4 6.56 NDP 0 genome.wustl.edu 37 X 43809159 43809159 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 43809159 43809159 G T SNP NDP ENST00000378062 human ensembl 74_37 -1 known nonsense c.288 p.C96* 1.000 pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis pfam_Cys_knot,pfam_DAN,smart_Cys_knot_C,pfscan_Cys_knot_C,prints_Norrie_dis - no_errors NDP HGNC ENSG00000124479 62 0 0.00 71 4 5.33 NEK1 0 genome.wustl.edu 37 4 170459006 170459006 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 170459006 170459006 C T SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known missense c.1619 p.R540Q 1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 40 0 0.00 44 3 6.38 NF1 0 genome.wustl.edu 37 17 29652954 29652954 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 29652954 29652954 G A SNP NF1 ENST00000358273 human ensembl 74_37 +1 known missense c.4952 p.S1651N 1.000 superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 26 0 0.00 36 4 10.00 NLRP10 0 genome.wustl.edu 37 11 7981789 7981789 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 7981789 7981789 G T SNP NLRP10 ENST00000328600 human ensembl 74_37 -1 known missense c.1370 p.A457D 0.000 NULL pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP10 HGNC ENSG00000182261 27 0 0.00 28 2 6.67 NLRP9 0 genome.wustl.edu 37 19 56223931 56223931 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 56223931 56223931 C T SNP NLRP9 ENST00000332836 human ensembl 74_37 -1 known missense c.2527 p.D843N 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 13 0 0.00 15 4 21.05 NOS2 0 genome.wustl.edu 37 17 26114756 26114756 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 26114756 26114756 G T SNP NOS2 ENST00000313735 human ensembl 74_37 -1 known missense c.415 p.L139I 1.000 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS2 HGNC ENSG00000007171 37 0 0.00 32 3 8.57 NPIPB4 0 genome.wustl.edu 37 16 21854859 21854859 + Silent SNP G G C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 21854859 21854859 G C SNP NPIPB4 ENST00000415645 human ensembl 74_37 -1 known silent c.393 p.S131 0.001 NULL NULL - no_errors NPIPB4 HGNC ENSG00000185864 tier1 - - 256 0 0.00 229 39 14.50 NPR1 0 genome.wustl.edu 37 1 153659784 153659784 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 153659784 153659784 G T SNP NPR1 ENST00000368680 human ensembl 74_37 +1 known nonsense c.2044 p.E682* 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Peripla_BP_I,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors NPR1 HGNC ENSG00000169418 29 0 0.00 35 3 7.89 NR6A1 0 genome.wustl.edu 37 9 127289130 127289130 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 127289130 127289130 G T SNP NR6A1 ENST00000487099 human ensembl 74_37 -1 known missense c.1129 p.H377N 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR6A1 HGNC ENSG00000148200 tier1 - - 53 0 0.00 37 4 9.76 NRG1 0 genome.wustl.edu 37 8 32607049 32607050 + RNA INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 32607049 32607050 - T INS NRG1 ENST00000523681 human ensembl 74_37 +1 known rna NULL NULL 0.999:1.000 - - - no_errors NRG1 HGNC ENSG00000157168 tier1 42 0 0.00 23 12 34.29 NRP1 0 genome.wustl.edu 37 10 33552787 33552787 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 33552787 33552787 G T SNP NRP1 ENST00000265371 human ensembl 74_37 -1 known missense c.445 p.Q149K 1.000 pirsf_Neuropilin,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_Neuropilin,pfam_CUB_dom,pfam_Coagulation_fac_5/8-C_type_dom,pfam_MAM_dom,pfam_Neuropilin1_C,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_CUB_dom,smart_CUB_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_MAM_dom,prints_MAM_dom,pfscan_CUB_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_MAM_dom - no_errors NRP1 HGNC ENSG00000099250 55 0 0.00 48 4 7.69 NTRK3 0 genome.wustl.edu 37 15 88799256 88799256 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 88799256 88799256 G A SNP NTRK3 ENST00000360948 human ensembl 74_37 -1 known silent c.129 p.I43 1.000 pfam_LRR-contain_N,smart_LRR-contain_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 tier1 - - 48 0 0.00 41 13 24.07 NUAK1 0 genome.wustl.edu 37 12 106464597 106464597 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 106464597 106464597 G A SNP NUAK1 ENST00000261402 human ensembl 74_37 -1 known missense c.787 p.R263W 1.000 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,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors NUAK1 HGNC ENSG00000074590 tier1 - - 41 0 0.00 17 14 45.16 NUMB 0 genome.wustl.edu 37 14 73759488 73759488 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 73759488 73759488 G T SNP NUMB ENST00000355058 human ensembl 74_37 -1 known missense c.404 p.T135N 1.000 pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMB HGNC ENSG00000133961 tier1 - - 31 0 0.00 35 4 10.26 NUP210L 0 genome.wustl.edu 37 1 154091161 154091161 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 154091161 154091161 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.1450 p.R484C 0.999 superfamily_Invasin/intimin_cell_adhesion pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 36 0 0.00 53 3 5.36 OGT 0 genome.wustl.edu 37 X 70767756 70767756 + Splice_Site SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 70767756 70767756 G T SNP OGT ENST00000373719 human ensembl 74_37 +1 known splice_site c.532-1 e5-1 1.000 - - - no_errors OGT HGNC ENSG00000147162 tier1 - - 52 0 0.00 48 5 9.43 OPCML 0 genome.wustl.edu 37 11 132306622 132306622 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 132306622 132306622 T G SNP OPCML ENST00000541867 human ensembl 74_37 -1 known missense c.716 p.K239T 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors OPCML HGNC ENSG00000183715 tier1 - - 24 0 0.00 12 5 29.41 OPRL1 0 genome.wustl.edu 37 20 62729766 62729766 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 20 62729766 62729766 C T SNP OPRL1 ENST00000336866 human ensembl 74_37 +1 known missense c.727 p.R243C 0.133 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_Neuropept_B/W_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt - no_errors OPRL1 HGNC ENSG00000125510 tier1 - - 33 0 0.00 16 11 40.74 OR13C8 0 genome.wustl.edu 37 9 107331770 107331770 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 107331770 107331770 G A SNP OR13C8 ENST00000335040 human ensembl 74_37 +1 known missense c.322 p.G108R 0.944 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 OR13C8 HGNC ENSG00000186943 tier1 - - 36 0 0.00 30 21 41.18 OR2M2 0 genome.wustl.edu 37 1 248343315 248343315 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 248343315 248343315 T G SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.28 p.S10A 0.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 tier1 - - 75 0 0.00 14 16 53.33 OR2T6 0 genome.wustl.edu 37 1 248551709 248551709 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 248551709 248551709 C T SNP OR2T6 ENST00000355728 human ensembl 74_37 +1 known missense c.800 p.T267I 0.391 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR2T6 HGNC ENSG00000198104 tier1 - - 46 0 0.00 11 13 54.17 OR4A47 0 genome.wustl.edu 37 11 48510431 48510431 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 48510431 48510431 C A SNP OR4A47 ENST00000446524 human ensembl 74_37 +1 known missense c.87 p.F29L 0.004 prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A47 HGNC ENSG00000237388 tier1 - - 44 0 0.00 43 18 29.51 OR52H1 0 genome.wustl.edu 37 11 5565870 5565870 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 5565870 5565870 A G SNP OR52H1 ENST00000322653 human ensembl 74_37 -1 known missense c.884 p.L295P 0.589 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52H1 HGNC ENSG00000181616 tier1 - - 49 0 0.00 40 13 24.53 OR5T3 0 genome.wustl.edu 37 11 56019748 56019748 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 56019748 56019748 G T SNP OR5T3 ENST00000303059 human ensembl 74_37 +1 known missense c.73 p.G25C 0.000 NULL pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5T3 HGNC ENSG00000172489 34 0 0.00 35 2 5.41 OR6C75 0 genome.wustl.edu 37 12 55759191 55759192 + Frame_Shift_Ins INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 55759191 55759192 - T INS OR6C75 ENST00000343399 human ensembl 74_37 +1 known frame_shift_ins c.297_298 p.I102fs 0.002:0.964 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 OR6C75 HGNC ENSG00000187857 tier1 25 0 0.00 21 10 32.26 OR6N1 0 genome.wustl.edu 37 1 158735897 158735897 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 158735897 158735897 C T SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known silent c.576 p.T192 0.018 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 tier1 - - 19 0 0.00 13 13 50.00 OTUD4 0 genome.wustl.edu 37 4 146064566 146064566 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 146064566 146064566 G A SNP OTUD4 ENST00000447906 human ensembl 74_37 -1 known missense c.1634 p.S545L 1.000 NULL pfam_OTU,pfscan_OTU - no_errors OTUD4 HGNC ENSG00000164164 tier1 - - 16 0 0.00 23 9 28.12 OTUD6A 0 genome.wustl.edu 37 X 69283089 69283089 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 69283089 69283089 G T SNP OTUD6A ENST00000338352 human ensembl 74_37 +1 known missense c.715 p.D239Y 0.000 pfam_OTU,pfscan_OTU pfam_OTU,pfscan_OTU - no_errors OTUD6A HGNC ENSG00000189401 tier1 - - 21 0 0.00 9 8 47.06 P2RY13 0 genome.wustl.edu 37 3 151046141 151046142 + Frame_Shift_Ins INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 151046141 151046142 - T INS P2RY13 ENST00000325602 human ensembl 74_37 -1 known frame_shift_ins c.703_702 p.V234fs 1.000:0.880 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_P2Y13_rcpt,prints_GPCR_Rhodpsn,prints_P2Y14_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors P2RY13 HGNC ENSG00000181631 tier1 17 0 0.00 14 3 17.65 PACS2 0 genome.wustl.edu 37 14 105849726 105849726 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 105849726 105849726 C T SNP PACS2 ENST00000458164 human ensembl 74_37 +1 known silent c.1656 p.P552 0.045 pfam_Phosphofurin_acidic_CS-1 pfam_Phosphofurin_acidic_CS-1 - no_errors PACS2 HGNC ENSG00000179364 tier1 - - 22 0 0.00 15 12 44.44 PAK6 0 genome.wustl.edu 37 15 40566472 40566472 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 40566472 40566472 C T SNP PAK6 ENST00000260404 human ensembl 74_37 +1 known missense c.1873 p.H625Y 1.000 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,pfam_CRIB_dom,superfamily_Kinase-like_dom,smart_CRIB_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRIB_dom,pfscan_Prot_kinase_dom - no_errors PAK6 HGNC ENSG00000137843 tier1 - - 34 0 0.00 23 13 35.14 PANK1 0 genome.wustl.edu 37 10 91353588 91353588 + Missense_Mutation SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 91353588 91353588 C G SNP PANK1 ENST00000307534 human ensembl 74_37 -1 known missense c.1469 p.G490A 1.000 pfam_Type_II_PanK,tigrfam_Type_II_PanK pfam_Type_II_PanK,tigrfam_Type_II_PanK - no_errors PANK1 HGNC ENSG00000152782 50 0 0.00 38 4 9.30 PCDHA12 0 genome.wustl.edu 37 5 140257158 140257158 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 140257158 140257158 A G SNP PCDHA12 ENST00000398631 human ensembl 74_37 +1 known missense c.2101 p.I701V 0.997 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA12 HGNC ENSG00000251664 tier1 - - 30 0 0.00 12 22 64.71 PCDHA7 0 genome.wustl.edu 37 5 140216158 140216158 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 140216158 140216158 C T SNP PCDHA7 ENST00000525929 human ensembl 74_37 +1 known silent c.2190 p.G730 0.061 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 tier1 - - 56 0 0.00 40 4 9.09 PCDHB3 0 genome.wustl.edu 37 5 140482553 140482553 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 140482553 140482553 T G SNP PCDHB3 ENST00000231130 human ensembl 74_37 +1 known missense c.2320 p.F774V 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB3 HGNC ENSG00000113205 tier1 - - 43 0 0.00 11 20 64.52 PCDHB8 0 genome.wustl.edu 37 5 140558592 140558592 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 140558592 140558592 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known missense c.977 p.G326E 0.943 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 tier1 - - 71 0 0.00 38 14 26.92 PCDP1 0 genome.wustl.edu 37 2 120404598 120404598 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 120404598 120404598 G A SNP PCDP1 ENST00000413369 human ensembl 74_37 +1 known missense c.2290 p.E764K 0.988 NULL NULL - no_errors PCDP1 Uniprot_gn ENSG00000163075 tier1 - - 37 0 0.00 24 10 29.41 PCLO 0 genome.wustl.edu 37 7 82578830 82578830 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 82578830 82578830 T G SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11074 p.S3692R 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 28 0 0.00 20 14 41.18 PCLO 0 genome.wustl.edu 37 7 82791891 82791891 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 82791891 82791891 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.18 p.S6R 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 20 0 0.00 16 15 48.39 PDCD6IP 0 genome.wustl.edu 37 3 33879704 33879704 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 33879704 33879704 G T SNP PDCD6IP ENST00000457054 human ensembl 74_37 +1 known nonsense c.1081 p.E361* 1.000 pfam_BRO1_dom,pfscan_BRO1_dom pfam_BRO1_dom,pfscan_BRO1_dom - no_errors PDCD6IP HGNC ENSG00000170248 tier1 - - 71 0 0.00 51 4 7.27 PDE8A 0 genome.wustl.edu 37 15 85681097 85681097 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 85681097 85681097 A G SNP PDE8A ENST00000310298 human ensembl 74_37 +1 known missense c.2453 p.E818G 0.893 NULL pfam_PDEase_catalytic_dom,pfam_Sig_transdc_resp-reg_receiver,pfam_PAS_fold,pfam_PAS_4,superfamily_PAS,superfamily_CheY-like_superfamily,smart_HD/PDEase_dom,pfscan_PAS,prints_PDEase,tigrfam_PAS - no_errors PDE8A HGNC ENSG00000073417 10 0 0.00 11 3 21.43 PDZRN3 0 genome.wustl.edu 37 3 73457313 73457313 + Silent SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 73457313 73457313 T C SNP PDZRN3 ENST00000308537 human ensembl 74_37 -1 putative silent c.1017 p.P339 0.000 superfamily_PDZ,smart_PDZ pfam_PDZ,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,superfamily_PDZ,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors PDZRN3 HGNC ENSG00000121440 tier1 - - 48 0 0.00 15 16 51.61 PEPD 0 genome.wustl.edu 37 19 33882309 33882309 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 33882309 33882309 G T SNP PEPD ENST00000244137 human ensembl 74_37 -1 known missense c.1044 p.S348R 0.000 pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Aminopep_P_N,superfamily_Pept_M24_structural-domain - no_errors PEPD HGNC ENSG00000124299 tier1 - - 38 0 0.00 34 4 10.53 PEX14 0 genome.wustl.edu 37 1 10596278 10596278 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 10596278 10596278 G T SNP PEX14 ENST00000356607 human ensembl 74_37 +1 known silent c.93 p.T31 0.895 pfam_Pex14_N pfam_Pex14_N - no_errors PEX14 HGNC ENSG00000142655 26 0 0.00 24 3 11.11 PFN2 0 genome.wustl.edu 37 3 149683105 149683105 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 149683105 149683105 G T SNP PFN2 ENST00000423691 human ensembl 74_37 -1 putative missense c.440 p.S147Y 1.000 NULL pfam_Profilin_eukaryotes/bac,superfamily_Profilin_eukaryotes/bac,smart_Profilin_eukaryotes/bac,prints_Profilin_chordates - no_errors PFN2 HGNC ENSG00000070087 tier1 - - 46 0 0.00 48 4 7.69 PGAP2 0 genome.wustl.edu 37 11 3844965 3844965 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 3844965 3844965 G T SNP PGAP2 ENST00000465307 human ensembl 74_37 +1 putative missense c.170 p.G57V 0.529 NULL NULL - no_errors PGAP2 HGNC ENSG00000148985 tier1 - - 26 0 0.00 14 12 46.15 PGLYRP3 0 genome.wustl.edu 37 1 153275083 153275083 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 153275083 153275083 A G SNP PGLYRP3 ENST00000290722 human ensembl 74_37 -1 known missense c.530 p.V177A 0.894 pfam_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP3 HGNC ENSG00000159527 tier1 - - 82 0 0.00 61 58 48.74 PHACTR4 0 genome.wustl.edu 37 1 28802626 28802626 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 28802626 28802626 G T SNP PHACTR4 ENST00000373836 human ensembl 74_37 +1 known missense c.1459 p.D487Y 1.000 NULL pfam_RPEL_repeat,smart_RPEL_repeat,pfscan_RPEL_repeat - no_errors PHACTR4 HGNC ENSG00000204138 30 0 0.00 38 2 5.00 PHEX 0 genome.wustl.edu 37 X 22151693 22151693 + Silent SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 22151693 22151693 A G SNP PHEX ENST00000379374 human ensembl 74_37 +1 known silent c.1356 p.K452 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors PHEX HGNC ENSG00000102174 tier1 - - 32 0 0.00 24 18 42.86 PHLPP1 0 genome.wustl.edu 37 18 60527822 60527822 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 60527822 60527822 A C SNP PHLPP1 ENST00000262719 human ensembl 74_37 +1 known missense c.2054 p.N685T 0.001 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 21 0 0.00 12 4 25.00 PHOSPHO1 0 genome.wustl.edu 37 17 47301623 47301623 + Silent SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 47301623 47301623 C A SNP PHOSPHO1 ENST00000413580 human ensembl 74_37 -1 known silent c.864 p.V288 1.000 pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,pirsf_Pase_PHOSPHO-typ,tigrfam_PyrdxlP_Pase-rel,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PHOSPHO1 HGNC ENSG00000173868 tier1 - - 8 0 0.00 11 7 38.89 PIP5K1C 0 genome.wustl.edu 37 19 3656454 3656454 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 3656454 3656454 G T SNP PIP5K1C ENST00000537021 human ensembl 74_37 -1 known silent c.570 p.V190 0.996 pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub pfam_PInositol-4-P-5-kinase_core,smart_PInositol-4P-5-kinase_core_sub - no_errors PIP5K1C HGNC ENSG00000186111 tier1 - - 58 0 0.00 53 4 7.02 PITPNM2 0 genome.wustl.edu 37 12 123497206 123497206 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 123497206 123497206 G A SNP PITPNM2 ENST00000320201 human ensembl 74_37 -1 known silent c.369 p.P123 0.000 pfam_PI_transfer,prints_PI_transfer pfam_PI_transfer,pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD,prints_PI_transfer - no_errors PITPNM2 HGNC ENSG00000090975 tier1 - - 54 0 0.00 44 34 43.59 PIWIL1 0 genome.wustl.edu 37 12 130855864 130855864 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 130855864 130855864 G T SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known missense c.2465 p.W822L 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 29 0 0.00 47 3 6.00 PLBD1 0 genome.wustl.edu 37 12 14695201 14695201 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 14695201 14695201 G T SNP PLBD1 ENST00000240617 human ensembl 74_37 -1 known missense c.360 p.N120K 1.000 pfam_PLipase_B-like pfam_PLipase_B-like - no_errors PLBD1 HGNC ENSG00000121316 tier1 - - 63 0 0.00 70 4 5.41 PLCE1 0 genome.wustl.edu 37 10 96084763 96084763 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 96084763 96084763 G T SNP PLCE1 ENST00000260766 human ensembl 74_37 +1 known nonsense c.6835 p.E2279* 0.998 NULL pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_dom,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,smart_Ras-assoc,pfscan_C2_dom,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C - no_errors PLCE1 HGNC ENSG00000138193 tier1 - - 47 0 0.00 21 3 12.50 PLEC 0 genome.wustl.edu 37 8 144995421 144995421 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 144995421 144995421 G A SNP PLEC ENST00000322810 human ensembl 74_37 -1 known silent c.8979 p.P2993 1.000 smart_Plectin_repeat pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain - no_errors PLEC HGNC ENSG00000178209 tier1 - - 30 0 0.00 29 4 12.12 PLXNB2 0 genome.wustl.edu 37 22 50728606 50728606 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 50728606 50728606 G T SNP PLXNB2 ENST00000359337 human ensembl 74_37 -1 known missense c.408 p.D136E 0.062 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom 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 PLXNB2 HGNC ENSG00000196576 38 0 0.00 50 3 5.66 POLR1E 0 genome.wustl.edu 37 9 37501715 37501715 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 37501715 37501715 G T SNP POLR1E ENST00000377792 human ensembl 74_37 +1 known missense c.1160 p.R387L 1.000 pfam_RNA_pol-assoc_fac_A49-like pfam_RNA_pol-assoc_fac_A49-like - no_errors POLR1E HGNC ENSG00000137054 33 0 0.00 30 2 6.25 PPP1R3A 0 genome.wustl.edu 37 7 113518469 113518469 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 113518469 113518469 T C SNP PPP1R3A ENST00000284601 human ensembl 74_37 -1 known missense c.2678 p.D893G 0.000 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 tier1 - - 24 0 0.00 11 4 26.67 PPP3CC 0 genome.wustl.edu 37 8 22396990 22396990 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 22396990 22396990 G T SNP PPP3CC ENST00000240139 human ensembl 74_37 +1 known nonsense c.1330 p.E444* 1.000 NULL pfam_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP3CC HGNC ENSG00000120910 tier1 - - 90 0 0.00 43 4 8.51 PPP4R4 0 genome.wustl.edu 37 14 94708144 94708144 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 94708144 94708144 G T SNP PPP4R4 ENST00000304338 human ensembl 74_37 +1 known missense c.996 p.Q332H 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors PPP4R4 HGNC ENSG00000119698 tier1 - - 27 0 0.00 16 9 36.00 PRAMEF10 0 genome.wustl.edu 37 1 12953256 12953256 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 12953256 12953256 T C SNP PRAMEF10 ENST00000235347 human ensembl 74_37 -1 known missense c.916 p.T306A 0.000 NULL NULL - no_errors PRAMEF10 HGNC ENSG00000187545 tier1 rs199702833 - 16 0 0.00 8 4 33.33 PRDM15 0 genome.wustl.edu 37 21 43240471 43240471 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 21 43240471 43240471 C T SNP PRDM15 ENST00000269844 human ensembl 74_37 -1 known missense c.3218 p.R1073H 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM15 HGNC ENSG00000141956 tier1 - - 26 0 0.00 26 9 25.71 PRG4 0 genome.wustl.edu 37 1 186276565 186276565 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 186276565 186276565 A G SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known missense c.1714 p.T572A 0.000 NULL pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 33 0 0.00 51 5 8.62 PRKDC 0 genome.wustl.edu 37 8 48734226 48734226 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 48734226 48734226 G T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.9047 p.A3016D 0.536 pfscan_PIK_FAT pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 36 0 0.00 34 5 12.82 PRRG3 0 genome.wustl.edu 37 X 150869442 150869442 + Silent SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 150869442 150869442 T G SNP PRRG3 ENST00000370353 human ensembl 74_37 +1 known silent c.633 p.S211 0.860 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,pfscan_GLA_domain,prints_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 tier1 - - 15 0 0.00 7 10 58.82 PSMA3 0 genome.wustl.edu 37 14 58737135 58737135 + Splice_Site SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 58737135 58737135 G T SNP PSMA3 ENST00000216455 human ensembl 74_37 +1 known splice_site c.591-1 e9-1 1.000 - - - no_errors PSMA3 HGNC ENSG00000100567 67 0 0.00 74 4 5.13 PSPH 0 genome.wustl.edu 37 7 56087300 56087300 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 56087300 56087300 C T SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.268 p.G90S 0.998 pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 tier1 rs75395437 - 38 0 0.00 92 106 53.54 PSPH 0 genome.wustl.edu 37 7 56085002 56085002 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 56085002 56085002 C T SNP PSPH ENST00000275605 human ensembl 74_37 -1 known missense c.346 p.V116I 1.000 pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like pfam_HAD-like_dom,pfam_Pyrimidine_nucleotidase_eu,pfam_Pase_PHOSPHO-typ,superfamily_HAD-like_dom,tigrfam_SerB,tigrfam_HAD-SF_hydro_IB_PSP-like - no_errors PSPH HGNC ENSG00000146733 53 0 0.00 105 8 7.08 PTGER3 0 genome.wustl.edu 37 1 71477998 71477998 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 71477998 71477998 T G SNP PTGER3 ENST00000354608 human ensembl 74_37 -1 known missense c.1067 p.K356T 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfam_7TM_GPCR_serpentine_rcpt_Srbc,pfscan_GPCR_Rhodpsn_7TM,prints_Prostglndn_EP3_rcpt,prints_Prostanoid_rcpt,prints_EP3_rcpt_2,prints_Prostglndn_DP_rcpt,prints_GPCR_Rhodpsn,prints_Thbox_rcpt - no_errors PTGER3 HGNC ENSG00000050628 tier1 - - 39 0 0.00 41 27 39.71 PTPN11 0 genome.wustl.edu 37 12 112924316 112924316 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 112924316 112924316 G T SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known missense c.1262 p.R421L 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 21 0 0.00 36 4 10.00 PTPRA 0 genome.wustl.edu 37 20 3002042 3002042 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 20 3002042 3002042 G T SNP PTPRA ENST00000425918 human ensembl 74_37 +1 known missense c.1162 p.D388Y 1.000 pirsf_Tyr_Pase_rcpt_a/e-type,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_a/e-type,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 - no_errors PTPRA HGNC ENSG00000132670 tier1 - - 42 0 0.00 54 4 6.90 PTPRN 0 genome.wustl.edu 37 2 220162791 220162791 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 220162791 220162791 G A SNP PTPRN ENST00000295718 human ensembl 74_37 -1 known missense c.1703 p.A568V 0.849 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Receptor_IA-2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRN HGNC ENSG00000054356 tier1 - - 51 0 0.00 35 17 32.69 PTRF 0 genome.wustl.edu 37 17 40574673 40574673 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 40574673 40574673 C T SNP PTRF ENST00000357037 human ensembl 74_37 -1 known missense c.443 p.R148H 1.000 NULL NULL - no_errors PTRF HGNC ENSG00000177469 tier1 - - 24 0 0.00 19 14 42.42 PUM2 0 genome.wustl.edu 37 2 20508090 20508090 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 20508090 20508090 G T SNP PUM2 ENST00000361078 human ensembl 74_37 -1 known nonsense c.774 p.Y258* 1.000 NULL pfam_Pumilio_RNA-bd_rpt,superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt,pfscan_Pumilio_RNA-bd_rpt - no_errors PUM2 HGNC ENSG00000055917 12 0 0.00 18 2 10.00 PYGL 0 genome.wustl.edu 37 14 51390756 51390756 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 51390756 51390756 G T SNP PYGL ENST00000216392 human ensembl 74_37 -1 known missense c.591 p.F197L 1.000 pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas pfam_Glyco_trans_35,pirsf_Glyco_trans_35,tigrfam_Glycg_phsphrylas - no_errors PYGL HGNC ENSG00000100504 50 0 0.00 50 3 5.66 PYY2 0 genome.wustl.edu 37 17 26554454 26554454 + RNA SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 26554454 26554454 C T SNP PYY2 ENST00000441253 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors PYY2 HGNC ENSG00000237575 tier1 - - 49 0 0.00 35 17 32.69 QARS 0 genome.wustl.edu 37 3 49141103 49141103 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 49141103 49141103 G T SNP QARS ENST00000306125 human ensembl 74_37 -1 known missense c.412 p.L138M 0.533 pfam_Gln-tRNA-synth_Ib_RNA-bd_N pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,pfam_Gln-tRNA-synth_Ib_RNA-bd_N,pfam_Glu/Gln-tRNA-synth_Ib_codon-bd,pfam_Gln-tRNA-synth_Ib_RNA-bd_2,superfamily_Ribosomal_L25/Gln-tRNA_synth,prints_Glu/Gln-tRNA-synth,tigrfam_Gln-tRNA-synth - no_errors QARS HGNC ENSG00000172053 tier1 - - 24 0 0.00 13 3 18.75 RAB11FIP1 0 genome.wustl.edu 37 8 37730471 37730471 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 37730471 37730471 G T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.1849 p.L617I 0.000 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 35 0 0.00 31 2 6.06 RAB30 0 genome.wustl.edu 37 11 82693420 82693420 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 82693420 82693420 G T SNP RAB30 ENST00000534141 human ensembl 74_37 -1 putative missense c.395 p.P132H 0.998 smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,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 RAB30 HGNC ENSG00000137502 tier1 - - 26 0 0.00 46 4 8.00 RAB4B-EGLN2 0 genome.wustl.edu 37 19 41284251 41284251 + RNA SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 41284251 41284251 A G SNP RAB4B-EGLN2 ENST00000601949 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RAB4B-EGLN2 HGNC ENSG00000171570 tier1 - - 83 0 0.00 62 32 34.04 RAD51 0 genome.wustl.edu 37 15 41011090 41011090 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 41011090 41011090 G A SNP RAD51 ENST00000382643 human ensembl 74_37 +1 known missense c.526 p.A176T 1.000 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,tigrfam_DNA_recomb/repair_Rad51 pfam_DNA_recomb/repair_Rad51_C,pfam_DNA_recomb/repair_RecA,superfamily_P-loop_NTPase,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_AAA+_ATPase,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd,pfscan_RecA_monomer-monomer_interface,tigrfam_DNA_recomb/repair_Rad51 - no_errors RAD51 HGNC ENSG00000051180 tier1 - - 74 0 0.00 67 4 5.63 RAI1 0 genome.wustl.edu 37 17 17700183 17700183 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 17700183 17700183 G T SNP RAI1 ENST00000353383 human ensembl 74_37 +1 known silent c.3921 p.R1307 0.000 NULL smart_Znf_PHD - no_errors RAI1 HGNC ENSG00000108557 11 0 0.00 22 3 12.00 RAI14 0 genome.wustl.edu 37 5 34808690 34808690 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 34808690 34808690 G T SNP RAI14 ENST00000515799 human ensembl 74_37 +1 known silent c.390 p.A130 0.324 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors RAI14 HGNC ENSG00000039560 tier1 - - 52 0 0.00 60 4 6.25 RANBP3 0 genome.wustl.edu 37 19 5951456 5951456 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 5951456 5951456 G A SNP RANBP3 ENST00000340578 human ensembl 74_37 -1 known missense c.230 p.P77L 0.991 NULL pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom - no_errors RANBP3 HGNC ENSG00000031823 tier1 - - 44 0 0.00 34 26 42.62 RANBP6 0 genome.wustl.edu 37 9 6013410 6013410 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 6013410 6013410 T G SNP RANBP6 ENST00000259569 human ensembl 74_37 -1 known missense c.2198 p.E733A 1.000 superfamily_ARM-type_fold pfam_HEAT,superfamily_ARM-type_fold - no_errors RANBP6 HGNC ENSG00000137040 tier1 - - 51 0 0.00 36 5 12.20 RASEF 0 genome.wustl.edu 37 9 85615846 85615846 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 85615846 85615846 G T SNP RASEF ENST00000376447 human ensembl 74_37 -1 known missense c.1402 p.Q468K 0.980 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_Vinculin/catenin,smart_EF_hand_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_hand_dom,tigrfam_Small_GTP-bd_dom - no_errors RASEF HGNC ENSG00000165105 tier1 - - 38 0 0.00 33 4 10.81 RBBP8 0 genome.wustl.edu 37 18 20596862 20596862 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 20596862 20596862 G T SNP RBBP8 ENST00000327155 human ensembl 74_37 +1 known missense c.2429 p.G810V 1.000 pfam_DNA-repair_Sae2/CtIP pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 19 0 0.00 25 4 13.79 RBM4B 0 genome.wustl.edu 37 11 66444293 66444293 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 66444293 66444293 G T SNP RBM4B ENST00000310046 human ensembl 74_37 -1 known missense c.258 p.S86R 0.930 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_Znf_CCHC,smart_RRM_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_RRM_dom - no_errors RBM4B HGNC ENSG00000173914 tier1 - - 106 0 0.00 128 8 5.88 RBMXL3 0 genome.wustl.edu 37 X 114424873 114424873 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 114424873 114424873 A G SNP RBMXL3 ENST00000424776 human ensembl 74_37 +1 known missense c.869 p.E290G 0.027 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 tier1 - - 49 0 0.00 29 15 34.09 REPS1 0 genome.wustl.edu 37 6 139235842 139235842 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 139235842 139235842 G T SNP REPS1 ENST00000450536 human ensembl 74_37 -1 known missense c.1777 p.P593T 1.000 NULL smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors REPS1 HGNC ENSG00000135597 tier1 - - 38 0 0.00 51 4 7.27 RGPD8 0 genome.wustl.edu 37 2 113147112 113147112 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 113147112 113147112 G T SNP RGPD8 ENST00000302558 human ensembl 74_37 -1 known missense c.3410 p.S1137Y 1.000 pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom - no_errors RGPD8 HGNC ENSG00000169629 tier1 - - 130 0 0.00 133 37 21.76 RGS12 0 genome.wustl.edu 37 4 3319606 3319606 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 3319606 3319606 G A SNP RGS12 ENST00000344733 human ensembl 74_37 +1 known missense c.1709 p.G570D 1.000 NULL pfam_Raf-like_ras-bd,pfam_RGS_dom,pfam_PDZ,pfam_GoLoco_motif,superfamily_Regulat_G_prot_signal_superfam,superfamily_PDZ,smart_PDZ,smart_PTB/PI_dom,smart_Regulat_G_prot_signal_superfam,smart_Raf-like_ras-bd,smart_GoLoco_motif,pfscan_GoLoco_motif,pfscan_PDZ,pfscan_PTB/PI_dom,pfscan_Raf-like_ras-bd,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS12 HGNC ENSG00000159788 tier1 - - 34 0 0.00 25 4 13.79 RHOXF2 0 genome.wustl.edu 37 X 119293306 119293306 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 119293306 119293306 C T SNP RHOXF2 ENST00000371388 human ensembl 74_37 +1 known silent c.465 p.R155 0.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors RHOXF2 HGNC ENSG00000131721 tier1 - - 83 0 0.00 84 19 18.45 RIBC1 0 genome.wustl.edu 37 X 53457373 53457373 + Silent SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 53457373 53457373 T C SNP RIBC1 ENST00000375327 human ensembl 74_37 +1 known silent c.693 p.C231 0.002 pfam_RIB43A pfam_RIB43A - no_errors RIBC1 HGNC ENSG00000158423 tier1 - - 10 0 0.00 15 10 40.00 RNH1 0 genome.wustl.edu 37 11 499889 499889 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 499889 499889 G T SNP RNH1 ENST00000354420 human ensembl 74_37 -1 known missense c.383 p.A128E 0.000 smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp - no_errors RNH1 HGNC ENSG00000023191 71 0 0.00 54 3 5.26 RP1L1 0 genome.wustl.edu 37 8 10465226 10465226 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 10465226 10465226 C T SNP RP1L1 ENST00000382483 human ensembl 74_37 -1 known missense c.6382 p.E2128K 0.024 NULL pfam_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom - no_errors RP1L1 HGNC ENSG00000183638 tier1 - - 53 0 0.00 176 19 9.74 RPH3A 0 genome.wustl.edu 37 12 113266162 113266162 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 113266162 113266162 G T SNP RPH3A ENST00000389385 human ensembl 74_37 +1 known missense c.39 p.W13C 1.000 pfam_Znf_FYVE-typ pfam_C2_dom,pfam_Znf_FYVE-typ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom - no_errors RPH3A HGNC ENSG00000089169 tier1 - - 47 0 0.00 57 4 6.56 RPL10L 0 genome.wustl.edu 37 14 47120896 47120896 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 47120896 47120896 T C SNP RPL10L ENST00000298283 human ensembl 74_37 -1 known missense c.44 p.K15R 1.000 pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e pfam_Ribosomal_L10e/L16,superfamily_Ribosomal_L10e/L16,pirsf_Ribosomal_L10e,tigrfam_Ribosomal_L10e - no_errors RPL10L HGNC ENSG00000165496 tier1 - - 50 0 0.00 19 17 47.22 RTL1 0 genome.wustl.edu 37 14 101350670 101350670 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 101350670 101350670 C T SNP RTL1 ENST00000534062 human ensembl 74_37 -1 known silent c.456 p.E152 0.005 NULL pfam_Retrotrans_gag_dom,superfamily_Peptidase_aspartic_dom - no_errors RTL1 HGNC ENSG00000254656 52 0 0.00 61 5 7.58 S100A7L2 0 genome.wustl.edu 37 1 153410796 153410796 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 153410796 153410796 G T SNP S100A7L2 ENST00000368725 human ensembl 74_37 -1 known missense c.43 p.P15T 0.000 NULL pfscan_EF_hand_dom - no_errors S100A7L2 HGNC ENSG00000197364 13 0 0.00 29 4 12.12 SALL1 0 genome.wustl.edu 37 16 51174409 51174409 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 51174409 51174409 G T SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known missense c.1724 p.P575Q 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 16 0 0.00 4 6 60.00 SBNO1 0 genome.wustl.edu 37 12 123829962 123829962 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 123829962 123829962 G A SNP SBNO1 ENST00000420886 human ensembl 74_37 -1 known silent c.393 p.R131 0.893 NULL pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Prismane-like - no_errors SBNO1 HGNC ENSG00000139697 tier1 - - 104 0 0.00 62 40 39.22 SEC11C 0 genome.wustl.edu 37 18 56825870 56825871 + Frame_Shift_Ins INS - - T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 56825870 56825871 - T INS SEC11C ENST00000587834 human ensembl 74_37 +1 known frame_shift_ins c.532_533 p.L179fs 1.000:0.999 tigrfam_Peptidase_S26B pfam_Peptidase_S24_S26,superfamily_Peptidase_S24_S26A/B/C,prints_Peptidase_S26B,tigrfam_Peptidase_S26B - no_errors SEC11C HGNC ENSG00000166562 tier1 53 0 0.00 41 22 34.92 SEC24D 0 genome.wustl.edu 37 4 119673227 119673227 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 119673227 119673227 G T SNP SEC24D ENST00000379735 human ensembl 74_37 -1 known missense c.1634 p.P545Q 1.000 pfam_Sec23/24_trunk_dom pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24D HGNC ENSG00000150961 tier1 - - 40 0 0.00 33 4 10.81 SELP 0 genome.wustl.edu 37 1 169578896 169578896 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 169578896 169578896 G T SNP SELP ENST00000263686 human ensembl 74_37 -1 known silent c.1179 p.V393 0.007 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_C-type_lectin,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELP HGNC ENSG00000174175 28 0 0.00 70 4 5.41 SEPT14 0 genome.wustl.edu 37 7 55910813 55910813 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 55910813 55910813 G T SNP SEPT14 ENST00000388975 human ensembl 74_37 -1 known missense c.380 p.P127Q 0.999 pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin pfam_Cell_div_GTP-bd,superfamily_P-loop_NTPase,pirsf_Septin - no_errors SEPT14 HGNC ENSG00000154997 25 0 0.00 67 4 5.63 SERF2 0 genome.wustl.edu 37 15 44084580 44084580 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 44084580 44084580 C T SNP SERF2 ENST00000448830 human ensembl 74_37 +1 known silent c.6 p.T2 1.000 pfam_Uncharacterised_SERF pfam_Uncharacterised_SERF - no_errors SERF2 HGNC ENSG00000140264 tier1 - - 50 0 0.00 28 13 31.71 SERPINA6 0 genome.wustl.edu 37 14 94776192 94776192 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 94776192 94776192 C A SNP SERPINA6 ENST00000341584 human ensembl 74_37 -1 known missense c.765 p.M255I 1.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINA6 HGNC ENSG00000170099 tier1 - - 42 0 0.00 20 15 42.86 SERPINB9 0 genome.wustl.edu 37 6 2900764 2900764 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 2900764 2900764 C T SNP SERPINB9 ENST00000380698 human ensembl 74_37 -1 known missense c.82 p.V28M 0.549 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Serpin_B9/Maspin - no_errors SERPINB9 HGNC ENSG00000170542 tier1 - - 61 0 0.00 32 19 37.25 SF3B4 0 genome.wustl.edu 37 1 149898421 149898421 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 149898421 149898421 C T SNP SF3B4 ENST00000271628 human ensembl 74_37 -1 known missense c.553 p.E185K 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SF3B4 HGNC ENSG00000143368 tier1 - - 38 0 0.00 40 11 21.57 SH3BP1 0 genome.wustl.edu 37 22 38049875 38049875 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 38049875 38049875 G T SNP SH3BP1 ENST00000357436 human ensembl 74_37 +1 known missense c.1688 p.R563L 0.876 NULL pfam_RhoGAP_dom,pfam_BAR_dom,superfamily_Rho_GTPase_activation_prot,smart_BAR_dom,smart_RhoGAP_dom,pfscan_BAR_dom,pfscan_RhoGAP_dom - no_errors SH3BP1 HGNC ENSG00000100092 69 0 0.00 69 4 5.48 SH3GLB2 0 genome.wustl.edu 37 9 131777085 131777085 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 131777085 131777085 G T SNP SH3GLB2 ENST00000372554 human ensembl 74_37 -1 known missense c.433 p.R145S 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB2 HGNC ENSG00000148341 48 0 0.00 34 2 5.56 SH3PXD2A 0 genome.wustl.edu 37 10 105362805 105362805 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 105362805 105362805 A G SNP SH3PXD2A ENST00000369774 human ensembl 74_37 -1 known missense c.2170 p.S724P 1.000 NULL pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain - no_errors SH3PXD2A HGNC ENSG00000107957 tier1 - - 49 0 0.00 46 21 31.34 SHROOM2 0 genome.wustl.edu 37 X 9864214 9864214 + Missense_Mutation SNP G G C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 9864214 9864214 G C SNP SHROOM2 ENST00000380913 human ensembl 74_37 +1 known missense c.2266 p.A756P 0.183 pfam_ASD1 pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM2 HGNC ENSG00000146950 tier1 - - 57 0 0.00 31 20 39.22 SLC12A1 0 genome.wustl.edu 37 15 48499977 48499977 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 48499977 48499977 T C SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.61 p.F21L 1.000 NULL pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 21 0 0.00 19 10 34.48 SLC12A1 0 genome.wustl.edu 37 15 48527094 48527094 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 48527094 48527094 T G SNP SLC12A1 ENST00000380993 human ensembl 74_37 +1 known missense c.1108 p.F370V 1.000 pfam_AA-permease/SLC12A_dom,tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt2,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A1 HGNC ENSG00000074803 tier1 - - 42 0 0.00 29 20 40.82 SLC12A6 0 genome.wustl.edu 37 15 34544397 34544397 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 34544397 34544397 G T SNP SLC12A6 ENST00000558589 human ensembl 74_37 -1 known missense c.1280 p.P427H 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,pfam_K/Cl_cotranspt_1/3,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A6 HGNC ENSG00000140199 tier1 - - 17 0 0.00 10 3 23.08 SLC22A24 0 genome.wustl.edu 37 11 62850901 62850901 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 62850901 62850901 G A SNP SLC22A24 ENST00000417740 human ensembl 74_37 -1 putative silent c.1099 p.L367 0.793 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 tier1 - - 17 0 0.00 9 4 30.77 SLC25A13 0 genome.wustl.edu 37 7 95906517 95906517 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 95906517 95906517 G T SNP SLC25A13 ENST00000416240 human ensembl 74_37 -1 known missense c.203 p.T68N 1.000 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_EF_hand_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A13 HGNC ENSG00000004864 35 0 0.00 57 4 6.56 SLC25A22 0 genome.wustl.edu 37 11 792616 792616 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 792616 792616 C T SNP SLC25A22 ENST00000320230 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,prints_Mit_carrier,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A22 HGNC ENSG00000177542 12 0 0.00 10 5 33.33 SLC25A36 0 genome.wustl.edu 37 3 140660731 140660731 + RNA SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 140660731 140660731 C T SNP SLC25A36 ENST00000393015 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SLC25A36 HGNC ENSG00000114120 tier1 - - 15 0 0.00 5 9 64.29 SLC25A51 0 genome.wustl.edu 37 9 37888069 37888069 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 37888069 37888069 G T SNP SLC25A51 ENST00000242275 human ensembl 74_37 -1 known missense c.479 p.A160D 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors SLC25A51 HGNC ENSG00000122696 tier1 - - 46 0 0.00 61 4 6.15 SLC30A5 0 genome.wustl.edu 37 5 68423939 68423939 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 68423939 68423939 G T SNP SLC30A5 ENST00000396591 human ensembl 74_37 +1 known nonsense c.2107 p.E703* 1.000 pfam_Cation_efflux,tigrfam_Cation_efflux pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A5 HGNC ENSG00000145740 tier1 - - 28 0 0.00 26 4 13.33 SLC43A1 0 genome.wustl.edu 37 11 57268693 57268693 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 57268693 57268693 G T SNP SLC43A1 ENST00000278426 human ensembl 74_37 -1 known missense c.264 p.S88R 0.650 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC43A1 HGNC ENSG00000149150 22 0 0.00 48 3 5.88 SLC4A1AP 0 genome.wustl.edu 37 2 27886964 27886964 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 27886964 27886964 G A SNP SLC4A1AP ENST00000326019 human ensembl 74_37 +1 known silent c.345 p.E115 0.013 NULL pfam_FHA_dom,pfam_dsRNA-bd_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors SLC4A1AP HGNC ENSG00000163798 tier1 - - 41 0 0.00 18 24 57.14 SLC9A6 0 genome.wustl.edu 37 X 135126796 135126796 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 135126796 135126796 C T SNP SLC9A6 ENST00000370695 human ensembl 74_37 +1 known silent c.2019 p.V673 1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 tier1 - - 48 0 0.00 40 22 35.48 SLC9A7 0 genome.wustl.edu 37 X 46522028 46522028 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 46522028 46522028 C T SNP SLC9A7 ENST00000328306 human ensembl 74_37 -1 known missense c.844 p.A282T 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A7 HGNC ENSG00000065923 tier1 - - 16 0 0.00 4 10 71.43 SLCO2B1 0 genome.wustl.edu 37 11 74880255 74880255 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 74880255 74880255 G T SNP SLCO2B1 ENST00000289575 human ensembl 74_37 +1 known silent c.486 p.L162 0.136 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO2B1 HGNC ENSG00000137491 tier1 - - 27 0 0.00 35 4 10.26 SLCO4C1 0 genome.wustl.edu 37 5 101583021 101583021 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 101583021 101583021 G T SNP SLCO4C1 ENST00000310954 human ensembl 74_37 -1 known nonsense c.1746 p.C582* 0.332 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO4C1 HGNC ENSG00000173930 tier1 - - 35 0 0.00 29 4 12.12 SMCO4 0 genome.wustl.edu 37 11 93212196 93212196 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 93212196 93212196 G A SNP SMCO4 ENST00000298966 human ensembl 74_37 -1 known missense c.160 p.R54C 0.994 NULL NULL - no_errors SMCO4 HGNC ENSG00000166002 tier1 rs202058974 - 29 0 0.00 18 24 57.14 SNAP91 0 genome.wustl.edu 37 6 84315485 84315485 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 84315485 84315485 G T SNP SNAP91 ENST00000369694 human ensembl 74_37 -1 known missense c.1060 p.P354T 1.000 NULL pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 tier1 - - 56 0 0.00 55 4 6.78 SNTG1 0 genome.wustl.edu 37 8 51617305 51617305 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 51617305 51617305 G A SNP SNTG1 ENST00000518864 human ensembl 74_37 +1 known missense c.1184 p.R395Q 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology - no_errors SNTG1 HGNC ENSG00000147481 tier1 - - 23 0 0.00 13 5 27.78 SPAG6 0 genome.wustl.edu 37 10 22690117 22690118 + Frame_Shift_Ins INS - - A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 22690117 22690118 - A INS SPAG6 ENST00000376603 human ensembl 74_37 +1 known frame_shift_ins c.1453_1454 p.C487fs 1.000:1.000 superfamily_ARM-type_fold pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo - no_errors SPAG6 HGNC ENSG00000077327 tier1 29 0 0.00 23 14 37.84 SPATA22 0 genome.wustl.edu 37 17 3346496 3346496 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 3346496 3346496 T C SNP SPATA22 ENST00000397168 human ensembl 74_37 -1 known missense c.872 p.N291S 0.989 NULL NULL - no_errors SPATA22 HGNC ENSG00000141255 tier1 - - 35 0 0.00 24 9 27.27 SPATA31E1 0 genome.wustl.edu 37 9 90503319 90503319 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 90503319 90503319 G T SNP SPATA31E1 ENST00000325643 human ensembl 74_37 +1 known missense c.3917 p.R1306M 0.000 NULL NULL - no_errors SPATA31E1 HGNC ENSG00000177992 tier1 - - 14 0 0.00 4 8 66.67 SPIN2A 0 genome.wustl.edu 37 X 57162331 57162331 + Missense_Mutation SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 57162331 57162331 T C SNP SPIN2A ENST00000374906 human ensembl 74_37 -1 known missense c.700 p.T234A 1.000 pfam_Spin_Ssty pfam_Spin_Ssty - no_errors SPIN2A HGNC ENSG00000147059 47 0 0.00 46 3 6.12 SPON1 0 genome.wustl.edu 37 11 14287100 14287100 + RNA SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 14287100 14287100 C T SNP SPON1 ENST00000310358 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SPON1 HGNC ENSG00000152268 tier1 - - 50 0 0.00 30 22 42.31 SPRED1 0 genome.wustl.edu 37 15 38643496 38643496 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 38643496 38643496 G T SNP SPRED1 ENST00000299084 human ensembl 74_37 +1 known missense c.966 p.K322N 1.000 NULL pfam_Sprouty,pfam_WH1/EVH1,smart_WH1/EVH1,pfscan_WH1/EVH1 - no_errors SPRED1 HGNC ENSG00000166068 21 0 0.00 20 2 9.09 SREK1 0 genome.wustl.edu 37 5 65476025 65476025 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 65476025 65476025 G T SNP SREK1 ENST00000284041 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors SREK1 HGNC ENSG00000153914 tier1 - - 22 0 0.00 12 3 20.00 SRRM1 0 genome.wustl.edu 37 1 24973643 24973643 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 24973643 24973643 G T SNP SRRM1 ENST00000466910 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SRRM1 HGNC ENSG00000133226 tier1 - - 31 0 0.00 42 5 10.64 SRRM4 0 genome.wustl.edu 37 12 119594330 119594330 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 119594330 119594330 G T SNP SRRM4 ENST00000267260 human ensembl 74_37 +1 known silent c.1563 p.R521 1.000 NULL NULL - no_errors SRRM4 HGNC ENSG00000139767 tier1 - - 26 0 0.00 16 15 46.88 STAM2 0 genome.wustl.edu 37 2 153001458 153001458 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 153001458 153001458 G T SNP STAM2 ENST00000263904 human ensembl 74_37 -1 known missense c.461 p.A154D 1.000 superfamily_SH3_domain pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_Ubiquitin-int_motif,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM2 HGNC ENSG00000115145 tier1 - - 34 0 0.00 59 4 6.35 STARD3 0 genome.wustl.edu 37 17 37813294 37813294 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 37813294 37813294 G T SNP STARD3 ENST00000336308 human ensembl 74_37 +1 known nonsense c.253 p.E85* 1.000 pfam_MENTAL pfam_MENTAL,pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,prints_StAR - no_errors STARD3 HGNC ENSG00000131748 42 0 0.00 35 2 5.41 STK17B 0 genome.wustl.edu 37 2 197004398 197004398 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 197004398 197004398 G T SNP STK17B ENST00000263955 human ensembl 74_37 -1 known nonsense c.782 p.S261* 1.000 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 STK17B HGNC ENSG00000081320 tier1 - - 33 0 0.00 42 4 8.70 STON1-GTF2A1L 0 genome.wustl.edu 37 2 48808901 48808901 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 48808901 48808901 A C SNP STON1-GTF2A1L ENST00000309827 human ensembl 74_37 +1 known missense c.1129 p.K377Q 1.000 pfscan_SHD 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 - - 23 0 0.00 25 9 26.47 STXBP3 0 genome.wustl.edu 37 1 109350121 109350121 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 109350121 109350121 G T SNP STXBP3 ENST00000370008 human ensembl 74_37 +1 known missense c.1634 p.R545L 1.000 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP3 HGNC ENSG00000116266 tier1 - - 31 0 0.00 26 4 13.33 SUN1 0 genome.wustl.edu 37 7 881709 881709 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 881709 881709 G T SNP SUN1 ENST00000456758 human ensembl 74_37 +1 known silent c.567 p.R189 0.005 pfam_SUN1 pfam_SUN1,pfam_Sad1_UNC_C - no_errors SUN1 HGNC ENSG00000164828 tier1 - - 52 0 0.00 44 4 8.33 SYDE2 0 genome.wustl.edu 37 1 85656020 85656020 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 85656020 85656020 C A SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known missense c.1161 p.L387F 0.016 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 tier1 - - 31 0 0.00 16 11 40.74 SYN1 0 genome.wustl.edu 37 X 47435959 47435959 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 47435959 47435959 G T SNP SYN1 ENST00000295987 human ensembl 74_37 -1 known silent c.918 p.P306 1.000 pfam_Synapsin_ATP-bd_dom,pfam_ATP-grasp_RimK-type pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_dom,prints_Synapsin - no_errors SYN1 HGNC ENSG00000008056 tier1 - - 54 0 0.00 42 4 8.70 SYNC 0 genome.wustl.edu 37 1 33161294 33161294 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 33161294 33161294 G A SNP SYNC ENST00000409190 human ensembl 74_37 -1 known silent c.405 p.H135 0.672 NULL pfam_IF - no_errors SYNC HGNC ENSG00000162520 19 0 0.00 13 7 35.00 SYNE1 0 genome.wustl.edu 37 6 152738136 152738136 + Missense_Mutation SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 152738136 152738136 T G SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.5436 p.E1812D 0.998 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 - - 22 0 0.00 6 5 45.45 SYNE1 0 genome.wustl.edu 37 6 152737805 152737805 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 152737805 152737805 C A SNP SYNE1 ENST00000265368 human ensembl 74_37 -1 known missense c.5767 p.A1923S 0.997 superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom 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 10 0 0.00 8 3 27.27 SYT16 0 genome.wustl.edu 37 14 62550978 62550978 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 62550978 62550978 C T SNP SYT16 ENST00000430451 human ensembl 74_37 +1 novel missense c.1499 p.S500L 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT16 HGNC ENSG00000139973 tier1 - - 25 0 0.00 18 12 38.71 TAB2 0 genome.wustl.edu 37 6 149699963 149699963 + Silent SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 149699963 149699963 A C SNP TAB2 ENST00000286332 human ensembl 74_37 +1 known silent c.912 p.S304 0.999 NULL pfam_CUE,pfam_Znf_RanBP2,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2 - no_errors TAB2 HGNC ENSG00000055208 20 0 0.00 28 2 6.67 TAF1L 0 genome.wustl.edu 37 9 32630161 32630161 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 32630161 32630161 C A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.5417 p.R1806I 0.654 pirsf_TAF1_animal pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 tier1 - - 75 0 0.00 45 36 44.44 TAF1L 0 genome.wustl.edu 37 9 32630838 32630838 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 32630838 32630838 C A SNP TAF1L ENST00000242310 human ensembl 74_37 -1 known missense c.4740 p.K1580N 1.000 pirsf_TAF1_animal,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain - no_errors TAF1L HGNC ENSG00000122728 50 0 0.00 55 3 5.17 TARS 0 genome.wustl.edu 37 5 33455098 33455098 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 33455098 33455098 G T SNP TARS ENST00000265112 human ensembl 74_37 +1 known missense c.502 p.V168F 1.000 superfamily_Thr/Ala-tRNA-synth_IIc_edit,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-ligase_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS HGNC ENSG00000113407 tier1 - - 27 0 0.00 24 4 14.29 TARS2 0 genome.wustl.edu 37 1 150470031 150470031 + Missense_Mutation SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 150470031 150470031 C G SNP TARS2 ENST00000369064 human ensembl 74_37 +1 known missense c.1046 p.S349C 0.988 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-ligase_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,pfscan_aa-tRNA-synth_II,prints_Thr-tRNA-ligase_IIa,tigrfam_Thr-tRNA-ligase_IIa - no_errors TARS2 HGNC ENSG00000143374 tier1 - - 26 0 0.00 29 9 23.68 TAS1R3 0 genome.wustl.edu 37 1 1269397 1269397 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 1269397 1269397 G A SNP TAS1R3 ENST00000339381 human ensembl 74_37 +1 known silent c.2112 p.P704 0.000 pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3 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 - no_errors TAS1R3 HGNC ENSG00000169962 tier1 - - 29 0 0.00 23 10 30.30 TBC1D17 0 genome.wustl.edu 37 19 50381354 50381354 + RNA SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 50381354 50381354 G A SNP TBC1D17 ENST00000598789 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TBC1D17 HGNC ENSG00000104946 tier1 - - 44 0 0.00 31 20 39.22 TBC1D31 0 genome.wustl.edu 37 8 124154635 124154635 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 124154635 124154635 G T SNP TBC1D31 ENST00000287380 human ensembl 74_37 +1 known missense c.2774 p.R925M 0.073 NULL pfam_Rab-GTPase-TBC_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Rab-GTPase-TBC_dom,smart_WD40_repeat,pfscan_Rab-GTPase-TBC_dom,pfscan_WD40_repeat_dom - no_errors TBC1D31 HGNC ENSG00000156787 27 0 0.00 27 2 6.90 TDRD10 0 genome.wustl.edu 37 1 154492834 154492834 + Nonsense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 154492834 154492834 C T SNP TDRD10 ENST00000368480 human ensembl 74_37 +1 known nonsense c.196 p.Q66* 0.004 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 tier1 - - 56 0 0.00 91 29 24.17 TECTA 0 genome.wustl.edu 37 11 121060584 121060584 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 11 121060584 121060584 G T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.6362 p.C2121F 1.000 smart_EG-like_dom pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 31 0 0.00 9 8 47.06 TENM1 0 genome.wustl.edu 37 X 123514857 123514857 + Silent SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 123514857 123514857 C A SNP TENM1 ENST00000422452 human ensembl 74_37 -1 known silent c.7728 p.G2576 0.925 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD - no_errors TENM1 HGNC ENSG00000009694 tier1 - - 22 0 0.00 21 17 44.74 TENM2 0 genome.wustl.edu 37 5 167675091 167675091 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 167675091 167675091 G T SNP TENM2 ENST00000518659 human ensembl 74_37 +1 known missense c.7147 p.G2383C 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,superfamily_Quino_amine_DH_bsu,superfamily_ConA-like_lec_gl_sf,superfamily_Cytokine_IL1-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM2 HGNC ENSG00000145934 16 0 0.00 23 4 14.81 TFAP2D 0 genome.wustl.edu 37 6 50683161 50683161 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 50683161 50683161 G A SNP TFAP2D ENST00000008391 human ensembl 74_37 +1 known silent c.372 p.S124 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C - no_errors TFAP2D HGNC ENSG00000008197 tier1 - - 34 0 0.00 21 19 47.50 THSD7B 0 genome.wustl.edu 37 2 138320876 138320876 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 138320876 138320876 A G SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known missense c.3233 p.E1078G 1.000 superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 34 0 0.00 38 11 22.45 TICRR 0 genome.wustl.edu 37 15 90145182 90145182 + Missense_Mutation SNP C C G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 90145182 90145182 C G SNP TICRR ENST00000268138 human ensembl 74_37 +1 known missense c.2542 p.R848G 1.000 NULL NULL - no_errors TICRR HGNC ENSG00000140534 tier1 - - 12 0 0.00 9 11 55.00 TIMD4 0 genome.wustl.edu 37 5 156375476 156375476 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 156375476 156375476 G A SNP TIMD4 ENST00000274532 human ensembl 74_37 -1 known silent c.795 p.H265 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors TIMD4 HGNC ENSG00000145850 13 0 0.00 14 2 12.50 TIMP4 0 genome.wustl.edu 37 3 12195084 12195084 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 12195084 12195084 G T SNP TIMP4 ENST00000287814 human ensembl 74_37 -1 known missense c.606 p.D202E 0.991 pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP pfam_Prot_inh_TIMP,superfamily_TIMP-like_OB-fold,smart_Prot_inh_TIMP,pfscan_Netrin_domain - no_errors TIMP4 HGNC ENSG00000157150 25 0 0.00 28 2 6.67 TMC4 0 genome.wustl.edu 37 19 54672292 54672292 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 54672292 54672292 C T SNP TMC4 ENST00000301187 human ensembl 74_37 -1 known missense c.557 p.G186E 0.647 NULL pfam_TMC - no_errors TMC4 HGNC ENSG00000167608 tier1 - - 12 0 0.00 22 5 18.52 TMEM104 0 genome.wustl.edu 37 17 72781696 72781696 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 72781696 72781696 G T SNP TMEM104 ENST00000335464 human ensembl 74_37 +1 known missense c.121 p.G41W 1.000 pfam_AA_transpt_TM pfam_AA_transpt_TM - no_errors TMEM104 HGNC ENSG00000109066 34 0 0.00 37 2 5.13 TMEM144 0 genome.wustl.edu 37 4 159133833 159133833 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 159133833 159133833 G T SNP TMEM144 ENST00000296529 human ensembl 74_37 +1 known missense c.14 p.G5V 0.000 NULL pfam_DUF1632_TMEM144,pfam_Sugar_transport - no_errors TMEM144 HGNC ENSG00000164124 tier1 - - 49 0 0.00 60 4 6.25 TMEM150C 0 genome.wustl.edu 37 4 83406769 83406769 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 83406769 83406769 G T SNP TMEM150C ENST00000449862 human ensembl 74_37 -1 known missense c.645 p.F215L 1.000 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors TMEM150C HGNC ENSG00000249242 tier1 - - 39 0 0.00 45 4 8.16 TMEM179 0 genome.wustl.edu 37 14 105061558 105061558 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 14 105061558 105061558 C T SNP TMEM179 ENST00000556573 human ensembl 74_37 -1 known missense c.466 p.D156N 0.993 NULL NULL - no_errors TMEM179 HGNC ENSG00000258986 tier1 - - 25 0 0.00 17 3 15.00 TMEM43 0 genome.wustl.edu 37 3 14177323 14177323 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 14177323 14177323 G T SNP TMEM43 ENST00000306077 human ensembl 74_37 +1 known missense c.797 p.R266L 1.000 pfam_TMEM43_fam pfam_TMEM43_fam - no_errors TMEM43 HGNC ENSG00000170876 16 0 0.00 24 3 11.11 TNXB 0 genome.wustl.edu 37 6 32037592 32037592 + Frame_Shift_Del DEL T T - TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 32037592 32037592 T - DEL TNXB ENST00000375247 human ensembl 74_37 -1 known frame_shift_del c.5325 p.K1775fs 0.394 superfamily_Fibronectin_type3,smart_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 44 0 0.00 26 2 7.14 TOMM34 0 genome.wustl.edu 37 20 43572202 43572202 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 20 43572202 43572202 G T SNP TOMM34 ENST00000372813 human ensembl 74_37 -1 known silent c.717 p.V239 0.795 pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 43 0 0.00 31 2 6.06 TOX 0 genome.wustl.edu 37 8 60031543 60031543 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 60031543 60031543 C A SNP TOX ENST00000361421 human ensembl 74_37 -1 known missense c.4 p.D2Y 1.000 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX HGNC ENSG00000198846 tier1 - - 25 0 0.00 36 9 20.00 TP53 0 genome.wustl.edu 37 17 7577520 7577521 + In_Frame_Ins INS - - TGG TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 7577520 7577521 - TGG INS TP53 ENST00000269305 human ensembl 74_37 -1 known in_frame_ins c.761_760 p.254in_frame_insT 1.000:1.000 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 161 0 0.00 141 68 32.54 TP53 0 genome.wustl.edu 37 17 7578257 7578257 + Nonsense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 7578257 7578257 C A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known nonsense c.592 p.E198* 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 - - 320 0 0.00 278 151 35.20 TP53BP1 0 genome.wustl.edu 37 15 43724394 43724394 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 43724394 43724394 G T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.3673 p.Q1225K 1.000 NULL pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 68 0 0.00 75 4 5.06 TPO 0 genome.wustl.edu 37 2 1459994 1459994 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 1459994 1459994 C T SNP TPO ENST00000329066 human ensembl 74_37 +1 known silent c.759 p.F253 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors TPO HGNC ENSG00000115705 tier1 - - 20 0 0.00 9 10 52.63 TPP2 0 genome.wustl.edu 37 13 103268839 103268839 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 13 103268839 103268839 G T SNP TPP2 ENST00000376065 human ensembl 74_37 +1 known missense c.484 p.G162C 0.224 pfam_Peptidase_S8/S53_dom,superfamily_Peptidase_S8/S53_dom pfam_Peptidase_S8/S53_dom,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53_dom,prints_Peptidase_S8_subtilisin-rel - no_errors TPP2 HGNC ENSG00000134900 28 0 0.00 17 2 10.00 TRAPPC8 0 genome.wustl.edu 37 18 29487486 29487486 + Nonsense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 29487486 29487486 G T SNP TRAPPC8 ENST00000283351 human ensembl 74_37 -1 known nonsense c.1326 p.C442* 0.998 NULL NULL - no_errors TRAPPC8 HGNC ENSG00000153339 38 0 0.00 32 3 8.57 TRHDE 0 genome.wustl.edu 37 12 72969051 72969051 + Silent SNP T T A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 72969051 72969051 T A SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known silent c.2013 p.T671 0.290 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 27 0 0.00 26 7 21.21 TRIM24 0 genome.wustl.edu 37 7 138189052 138189052 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 138189052 138189052 C T SNP TRIM24 ENST00000343526 human ensembl 74_37 +1 known missense c.382 p.P128S 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain - no_errors TRIM24 HGNC ENSG00000122779 tier1 - - 12 0 0.00 21 5 18.52 TRIM38 0 genome.wustl.edu 37 6 25972225 25972225 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 25972225 25972225 G T SNP TRIM38 ENST00000349458 human ensembl 74_37 +1 known silent c.636 p.L212 0.874 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,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 - no_errors TRIM38 HGNC ENSG00000112343 26 0 0.00 27 2 6.90 TRIML1 0 genome.wustl.edu 37 4 189060790 189060790 + Silent SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 189060790 189060790 A G SNP TRIML1 ENST00000332517 human ensembl 74_37 +1 known silent c.78 p.P26 0.263 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 tier1 - - 22 0 0.00 11 3 21.43 TRIML2 0 genome.wustl.edu 37 4 189012836 189012836 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 189012836 189012836 G A SNP TRIML2 ENST00000512729 human ensembl 74_37 -1 known silent c.855 p.S285 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin - no_errors TRIML2 HGNC ENSG00000179046 tier1 - - 29 0 0.00 21 13 38.24 TROVE2 0 genome.wustl.edu 37 1 193054347 193054347 + RNA DEL A A - TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 193054347 193054347 A - DEL TROVE2 ENST00000460715 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TROVE2 HGNC ENSG00000116747 tier1 22 0 0.00 11 6 35.29 TRPM7 0 genome.wustl.edu 37 15 50870860 50870860 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 15 50870860 50870860 G A SNP TRPM7 ENST00000313478 human ensembl 74_37 -1 known missense c.4594 p.P1532S 1.000 NULL pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase - no_errors TRPM7 HGNC ENSG00000092439 tier1 - - 52 0 0.00 35 27 43.55 TSC1 0 genome.wustl.edu 37 9 135796783 135796783 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 135796783 135796783 G T SNP TSC1 ENST00000298552 human ensembl 74_37 -1 known missense c.704 p.T235N 1.000 pfam_Hamartin pfam_Hamartin,superfamily_ARM-type_fold - no_errors TSC1 HGNC ENSG00000165699 tier1 - - 44 0 0.00 44 4 8.33 TSHZ3 0 genome.wustl.edu 37 19 31769056 31769056 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 31769056 31769056 G T SNP TSHZ3 ENST00000240587 human ensembl 74_37 -1 known missense c.1643 p.P548H 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ3 HGNC ENSG00000121297 tier1 - - 40 0 0.00 40 5 11.11 TTC18 0 genome.wustl.edu 37 10 75053076 75053076 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 75053076 75053076 G T SNP TTC18 ENST00000310715 human ensembl 74_37 -1 known missense c.1925 p.A642E 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC18 HGNC ENSG00000156042 tier1 - - 39 0 0.00 23 4 14.81 TTC28 0 genome.wustl.edu 37 22 28492219 28492219 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 28492219 28492219 G T SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.3725 p.A1242D 1.000 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 45 0 0.00 55 4 6.78 TTC28 0 genome.wustl.edu 37 22 28497217 28497217 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 22 28497217 28497217 C T SNP TTC28 ENST00000397906 human ensembl 74_37 -1 novel missense c.3359 p.R1120H 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC28 HGNC ENSG00000100154 tier1 - - 42 0 0.00 42 20 32.26 TTN 0 genome.wustl.edu 37 2 179590609 179590609 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 179590609 179590609 A C SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.16708 p.F5570V 0.998 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 58 0 0.00 36 23 38.98 TTN 0 genome.wustl.edu 37 2 179649066 179649066 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 179649066 179649066 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.2506 p.G836S 0.999 superfamily_RNaseH-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 23 0 0.00 27 11 28.95 TTN-AS1 0 genome.wustl.edu 37 2 179509215 179509215 + RNA SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 179509215 179509215 G A SNP TTN-AS1 ENST00000418062 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors TTN-AS1 HGNC ENSG00000237298 tier1 - - 23 0 0.00 16 16 50.00 TUBB2B 0 genome.wustl.edu 37 6 3225656 3225656 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 6 3225656 3225656 C T SNP TUBB2B ENST00000259818 human ensembl 74_37 -1 known missense c.667 p.G223R 1.000 superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB2B HGNC ENSG00000137285 tier1 - - 63 0 0.00 33 24 42.11 TUBB3 0 genome.wustl.edu 37 16 90001934 90001934 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 90001934 90001934 C A SNP TUBB3 ENST00000315491 human ensembl 74_37 +1 known missense c.1075 p.R359S 1.000 pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tub_FtsZ_C,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_tubulin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin - no_errors TUBB3 Uniprot_gn ENSG00000258947 47 0 0.00 34 2 5.56 TXNDC2 0 genome.wustl.edu 37 18 9887085 9887085 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 9887085 9887085 G A SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known silent c.609 p.Q203 0.000 pfam_Glutenin pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 tier1 - - 46 0 0.00 38 11 22.45 TXNDC2 0 genome.wustl.edu 37 18 9888020 9888020 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 9888020 9888020 G T SNP TXNDC2 ENST00000306084 human ensembl 74_37 +1 known missense c.1544 p.R515I 0.000 pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold - no_errors TXNDC2 HGNC ENSG00000168454 tier1 - - 56 0 0.00 48 4 7.69 UCK1 0 genome.wustl.edu 37 9 134404446 134404446 + RNA SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 134404446 134404446 C T SNP UCK1 ENST00000459858 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors UCK1 HGNC ENSG00000130717 tier1 - - 36 0 0.00 33 22 40.00 UGT2B11 0 genome.wustl.edu 37 4 70080365 70080365 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 70080365 70080365 C A SNP UGT2B11 ENST00000446444 human ensembl 74_37 -1 known missense c.76 p.V26L 0.895 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT2B11 HGNC ENSG00000213759 tier1 - - 113 0 0.00 70 37 34.58 UNC80 0 genome.wustl.edu 37 2 210806029 210806029 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 210806029 210806029 G T SNP UNC80 ENST00000439458 human ensembl 74_37 +1 known missense c.6533 p.S2178I 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 tier1 - - 87 0 0.00 68 4 5.56 URB2 0 genome.wustl.edu 37 1 229781688 229781688 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 1 229781688 229781688 C T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known missense c.3878 p.A1293V 0.023 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 - - 43 0 0.00 19 18 48.65 USP32P2 0 genome.wustl.edu 37 17 18415649 18415649 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 18415649 18415649 G T SNP USP32P2 ENST00000412260 human ensembl 74_37 -1 known rna NULL NULL 0.074 - - - no_errors USP32P2 HGNC ENSG00000233327 tier1 - - 80 0 0.00 63 4 5.97 VAC14 0 genome.wustl.edu 37 16 70819617 70819617 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 16 70819617 70819617 G A SNP VAC14 ENST00000261776 human ensembl 74_37 -1 known silent c.411 p.D137 0.190 superfamily_ARM-type_fold pfam_VAC14_Fig4p-bd,pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 tier1 rs151275776 - 22 0 0.00 5 7 58.33 VAV1 0 genome.wustl.edu 37 19 6853990 6853990 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 6853990 6853990 G T SNP VAV1 ENST00000602142 human ensembl 74_37 +1 known missense c.2365 p.A789S 1.000 pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH3_domain,prints_SH2,prints_SM22_calponin - no_errors VAV1 HGNC ENSG00000141968 26 0 0.00 29 2 6.45 VAV2 0 genome.wustl.edu 37 9 136671268 136671268 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 9 136671268 136671268 G T SNP VAV2 ENST00000371850 human ensembl 74_37 -1 known silent c.771 p.A257 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_SH3_2,pfam_CAMSAP_CH,pfam_SH3_domain,pfam_SH2,pfam_CH-domain,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_SH3_domain,smart_SH2,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain,prints_SH2,prints_SH3_domain - no_errors VAV2 HGNC ENSG00000160293 tier1 - - 63 0 0.00 70 4 5.41 VAX1 0 genome.wustl.edu 37 10 118893720 118893720 + Silent SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 118893720 118893720 C T SNP VAX1 ENST00000369206 human ensembl 74_37 -1 known silent c.804 p.A268 0.001 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_HTH_motif - no_errors VAX1 HGNC ENSG00000148704 tier1 - - 17 0 0.00 14 13 48.15 VIPR2 0 genome.wustl.edu 37 7 158937138 158937138 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 158937138 158937138 C T SNP VIPR2 ENST00000402066 human ensembl 74_37 -1 novel missense c.326 p.R109H 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_VIP_rcpt_2,prints_GPCR_2_secretin-like,prints_GPCR_2_VIP_rcpt - no_errors VIPR2 HGNC ENSG00000106018 tier1 - - 22 0 0.00 14 3 17.65 VPS4B 0 genome.wustl.edu 37 18 61064444 61064444 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 18 61064444 61064444 G A SNP VPS4B ENST00000238497 human ensembl 74_37 -1 known silent c.915 p.A305 0.901 superfamily_P-loop_NTPase pfam_ATPase_AAA_core,pfam_Vps4_C,pfam_MIT,pfam_IstB_ATP-bd,pfam_ATPase_dyneun-rel_AAA,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_MIT,smart_AAA+_ATPase - no_errors VPS4B HGNC ENSG00000119541 tier1 - - 27 0 0.00 17 9 34.62 VWA8 0 genome.wustl.edu 37 13 42461412 42461412 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 13 42461412 42461412 G T SNP VWA8 ENST00000379310 human ensembl 74_37 -1 known missense c.737 p.P246Q 1.000 pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase pfam_ATPase_dyneun-rel_AAA,pfam_VWF_A,superfamily_P-loop_NTPase,smart_AAA+_ATPase,smart_VWF_A,pfscan_VWF_A - no_errors VWA8 HGNC ENSG00000102763 tier1 - - 23 0 0.00 14 3 17.65 WBP2 0 genome.wustl.edu 37 17 73843603 73843603 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 73843603 73843603 G A SNP WBP2 ENST00000254806 human ensembl 74_37 -1 known missense c.620 p.P207L 0.989 NULL pfam_WW-domain-binding,pfam_GRAM - no_errors WBP2 HGNC ENSG00000132471 21 0 0.00 11 3 21.43 WDFY3 0 genome.wustl.edu 37 4 85731152 85731152 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 85731152 85731152 G T SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.2233 p.Q745K 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 58 0 0.00 61 4 6.15 WDR36 0 genome.wustl.edu 37 5 110461440 110461440 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 110461440 110461440 G T SNP WDR36 ENST00000506538 human ensembl 74_37 +1 known missense c.2653 p.D885Y 0.957 pfam_SSU_processome_Utp21 pfam_SSU_processome_Utp21,pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR36 HGNC ENSG00000134987 46 0 0.00 29 2 6.45 WDR48 0 genome.wustl.edu 37 3 39130733 39130733 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 3 39130733 39130733 G T SNP WDR48 ENST00000302313 human ensembl 74_37 +1 known missense c.1592 p.R531L 1.000 pfam_DUF3337 pfam_DUF3337,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 WDR48 HGNC ENSG00000114742 54 0 0.00 44 3 6.38 WIPF1 0 genome.wustl.edu 37 2 175436912 175436912 + Silent SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 175436912 175436912 G A SNP WIPF1 ENST00000272746 human ensembl 74_37 -1 known silent c.621 p.P207 0.019 NULL smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF1 HGNC ENSG00000115935 tier1 - - 15 0 0.00 12 7 36.84 WRN 0 genome.wustl.edu 37 8 30954306 30954306 + Missense_Mutation SNP G G A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 30954306 30954306 G A SNP WRN ENST00000298139 human ensembl 74_37 +1 known missense c.1921 p.V641I 0.061 pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,tigrfam_DNA_helicase_ATP-dep_RecQ pfam_3'-5'_exonuclease_dom,pfam_Helicase_C,pfam_RQC_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_HRDC_dom,superfamily_P-loop_NTPase,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_RQC_domain,smart_HRDC_dom,pfscan_HRDC_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,tigrfam_DNA_helicase_ATP-dep_RecQ - no_errors WRN HGNC ENSG00000165392 31 0 0.00 34 2 5.56 WWC3 0 genome.wustl.edu 37 X 10096179 10096179 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 10096179 10096179 C T SNP WWC3 ENST00000380861 human ensembl 74_37 +1 known missense c.2258 p.T753I 0.001 NULL superfamily_C2_dom - no_errors WWC3 HGNC ENSG00000047644 tier1 - - 46 0 0.00 51 4 7.27 XIRP2 0 genome.wustl.edu 37 2 168100411 168100411 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 168100411 168100411 G T SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.2509 p.D837Y 1.000 pfam_Actin-binding_Xin_repeat pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 16 0 0.00 19 15 44.12 XIST 0 genome.wustl.edu 37 X 73069583 73069583 + RNA SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 73069583 73069583 A G SNP XIST ENST00000429829 human ensembl 74_37 -1 known rna NULL NULL 0.011 - - - no_errors XIST HGNC ENSG00000229807 tier1 - - 14 0 0.00 15 8 34.78 XKR4 0 genome.wustl.edu 37 8 56015110 56015110 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 8 56015110 56015110 C T SNP XKR4 ENST00000327381 human ensembl 74_37 +1 known missense c.62 p.P21L 1.000 NULL pfam_Transport_prot_XK - no_errors XKR4 HGNC ENSG00000206579 tier1 - - 19 0 0.00 10 7 41.18 XPNPEP2 0 genome.wustl.edu 37 X 128888489 128888489 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 128888489 128888489 G T SNP XPNPEP2 ENST00000371106 human ensembl 74_37 +1 known silent c.1149 p.L383 1.000 superfamily_Pept_M24_structural-domain pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP2 HGNC ENSG00000122121 tier1 - - 57 0 0.00 41 4 8.70 YPEL5 0 genome.wustl.edu 37 2 30381857 30381857 + RNA SNP T T G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 30381857 30381857 T G SNP YPEL5 ENST00000495673 human ensembl 74_37 +1 known rna NULL NULL 0.661 - - - no_errors YPEL5 HGNC ENSG00000119801 tier1 - - 17 0 0.00 11 10 47.62 YPEL5 0 genome.wustl.edu 37 2 30381858 30381858 + RNA SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 30381858 30381858 T C SNP YPEL5 ENST00000495673 human ensembl 74_37 +1 known rna NULL NULL 0.250 - - - no_errors YPEL5 HGNC ENSG00000119801 tier1 - - 16 0 0.00 12 10 45.45 ZBED1 0 genome.wustl.edu 37 X 2407851 2407851 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 2407851 2407851 G T SNP ZBED1 ENST00000381218 human ensembl 74_37 -1 known missense c.910 p.Q304K 0.996 superfamily_RNaseH-like_dom pfam_HATC_dom_C,pfam_Znf_BED_prd,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd - no_errors ZBED1 HGNC ENSG00000214717 tier1 - - 35 0 0.00 33 4 10.81 ZBTB32 0 genome.wustl.edu 37 19 36207122 36207122 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 36207122 36207122 G T SNP ZBTB32 ENST00000262630 human ensembl 74_37 +1 known missense c.1112 p.R371L 0.903 NULL pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB32 HGNC ENSG00000011590 22 0 0.00 21 4 16.00 ZC4H2 0 genome.wustl.edu 37 X 64139828 64139828 + RNA SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 64139828 64139828 G T SNP ZC4H2 ENST00000488608 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZC4H2 HGNC ENSG00000126970 tier1 - - 21 0 0.00 8 13 61.90 ZCCHC5 0 genome.wustl.edu 37 X 77912922 77912922 + Silent SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 77912922 77912922 G T SNP ZCCHC5 ENST00000321110 human ensembl 74_37 -1 known silent c.996 p.L332 0.170 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC5 HGNC ENSG00000179300 tier1 - - 54 0 0.00 24 11 31.43 ZKSCAN5 0 genome.wustl.edu 37 7 99123486 99123486 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 99123486 99123486 G T SNP ZKSCAN5 ENST00000326775 human ensembl 74_37 +1 known missense c.823 p.D275Y 0.861 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,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 ZKSCAN5 HGNC ENSG00000196652 tier1 - - 31 0 0.00 23 20 46.51 ZNF254 0 genome.wustl.edu 37 19 24309740 24309740 + Missense_Mutation SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 24309740 24309740 A G SNP ZNF254 ENST00000357002 human ensembl 74_37 +1 known missense c.938 p.K313R 0.814 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 ZNF254 HGNC ENSG00000213096 tier1 - - 25 0 0.00 12 15 55.56 ZNF257 0 genome.wustl.edu 37 19 22255698 22255698 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 22255698 22255698 G T SNP ZNF257 ENST00000594947 human ensembl 74_37 +1 known missense c.91 p.D31Y 0.899 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF257 HGNC ENSG00000197134 tier1 - - 87 0 0.00 36 28 43.75 ZNF268 0 genome.wustl.edu 37 12 133781005 133781005 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 12 133781005 133781005 G T SNP ZNF268 ENST00000228289 human ensembl 74_37 +1 known missense c.2733 p.Q911H 1.000 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 ZNF268 HGNC ENSG00000090612 tier1 - - 24 0 0.00 18 3 14.29 ZNF430 0 genome.wustl.edu 37 19 21239956 21239956 + Missense_Mutation SNP T T A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 21239956 21239956 T A SNP ZNF430 ENST00000261560 human ensembl 74_37 +1 known missense c.842 p.I281K 0.998 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 ZNF430 HGNC ENSG00000118620 18 0 0.00 24 2 7.69 ZNF438 0 genome.wustl.edu 37 10 31137949 31137949 + Missense_Mutation SNP C C T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 10 31137949 31137949 C T SNP ZNF438 ENST00000361310 human ensembl 74_37 -1 known missense c.1385 p.G462E 0.007 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 tier1 - - 27 0 0.00 18 18 50.00 ZNF454 0 genome.wustl.edu 37 5 178392572 178392572 + Silent SNP T T C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 5 178392572 178392572 T C SNP ZNF454 ENST00000320129 human ensembl 74_37 +1 known silent c.1167 p.C389 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF454 HGNC ENSG00000178187 13 0 0.00 12 2 14.29 ZNF649 0 genome.wustl.edu 37 19 52394846 52394846 + Silent SNP A A G TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 52394846 52394846 A G SNP ZNF649 ENST00000354957 human ensembl 74_37 -1 known silent c.543 p.T181 0.020 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 ZNF649 HGNC ENSG00000198093 tier1 - - 115 0 0.00 90 43 32.33 ZNF655 0 genome.wustl.edu 37 7 99158210 99158210 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 99158210 99158210 G T SNP ZNF655 ENST00000424881 human ensembl 74_37 +1 known missense c.28 p.A10S 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF655 HGNC ENSG00000197343 tier1 - - 56 0 0.00 51 4 7.27 ZNF702P 0 genome.wustl.edu 37 19 53473437 53473437 + RNA SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 19 53473437 53473437 C A SNP ZNF702P ENST00000270443 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ZNF702P HGNC ENSG00000242779 tier1 - - 65 0 0.00 49 4 7.55 ZNF732 0 genome.wustl.edu 37 4 265627 265627 + Missense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 4 265627 265627 C A SNP ZNF732 ENST00000419098 human ensembl 74_37 -1 known missense c.1019 p.G340V 0.940 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 ZNF732 HGNC ENSG00000186777 tier1 - - 21 0 0.00 24 4 14.29 ZNF75D 0 genome.wustl.edu 37 X 134427910 134427910 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f X 134427910 134427910 A C SNP ZNF75D ENST00000370766 human ensembl 74_37 -1 known missense c.157 p.W53G 0.011 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN 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 ZNF75D HGNC ENSG00000186376 tier1 - - 21 0 0.00 17 11 39.29 ZNF804A 0 genome.wustl.edu 37 2 185802136 185802136 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 185802136 185802136 A C SNP ZNF804A ENST00000302277 human ensembl 74_37 +1 known missense c.2013 p.E671D 0.015 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804A HGNC ENSG00000170396 tier1 - - 21 0 0.00 21 14 40.00 ZNF804B 0 genome.wustl.edu 37 7 88966323 88966323 + Missense_Mutation SNP A A C TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 7 88966323 88966323 A C SNP ZNF804B ENST00000333190 human ensembl 74_37 +1 known missense c.4027 p.N1343H 1.000 NULL pfam_Znf_C2H2_jaz - no_errors ZNF804B HGNC ENSG00000182348 tier1 - - 15 0 0.00 11 7 38.89 ZSWIM2 0 genome.wustl.edu 37 2 187693010 187693010 + Nonsense_Mutation SNP C C A TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 2 187693010 187693010 C A SNP ZSWIM2 ENST00000295131 human ensembl 74_37 -1 known nonsense c.1603 p.G535* 0.001 NULL pfam_Znf_SWIM,pfam_Znf_ZZ,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Znf_ZZ - no_errors ZSWIM2 HGNC ENSG00000163012 15 0 0.00 30 2 6.25 ZZEF1 0 genome.wustl.edu 37 17 3912932 3912932 + Missense_Mutation SNP G G T TCGA-L5-A4OJ-01A-11D-A27G-09 TCGA-L5-A4OJ-11A-12D-A27G-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 240ae3a5-496b-4240-86ef-c9e428345a77 9cfe6810-0d93-48ff-b2d6-2758e2a7d40f 17 3912932 3912932 G T SNP ZZEF1 ENST00000381638 human ensembl 74_37 -1 known missense c.8699 p.T2900N 1.000 NULL pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB_dom,smart_EF_hand_dom,smart_Znf_ZZ,pfscan_EF_hand_dom,pfscan_Znf_ZZ - no_errors ZZEF1 HGNC ENSG00000074755 tier1 - - 27 0 0.00 46 5 9.80