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 AARS 0 genome.wustl.edu 37 16 70316635 70316635 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 70316635 70316635 C T SNP AARS ENST00000261772 human ensembl 74_37 -1 known missense c.32 p.R11Q 1.000 pfam_Ala-tRNA-synth_IIc_N,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc pfam_Ala-tRNA-synth_IIc_N,pfam_tRNA_SAD,pfam_Pesterase_DHHA1,superfamily_Ala-tRNA-ligase_IIc_anticod-bd,superfamily_Thr/Ala-tRNA-synth_IIc_edit,smart_tRNA_SAD,prints_Ala-tRNA-lgiase_IIc,pfscan_Ala-tRNA-synth_IIc_core,tigrfam_Ala-tRNA-lgiase_IIc - no_errors AARS HGNC ENSG00000090861 59 0 0.00 73 4 5.19 ABHD12 0 genome.wustl.edu 37 20 25295561 25295561 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 25295561 25295561 C T SNP ABHD12 ENST00000376542 human ensembl 74_37 -1 known missense c.619 p.G207S 1.000 pfam_AB_hydrolase_1,pfam_AB_hydrolase_3 pfam_AB_hydrolase_1,pfam_AB_hydrolase_3 - no_errors ABHD12 HGNC ENSG00000100997 tier1 - - 78 0 0.00 66 11 14.29 ACOX2 0 genome.wustl.edu 37 3 58520773 58520773 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 58520773 58520773 C T SNP ACOX2 ENST00000302819 human ensembl 74_37 -1 known missense c.61 p.D21N 0.997 superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase_NM_dom,pirsf_Acyl-CoA_oxidase - no_errors ACOX2 HGNC ENSG00000168306 tier1 - - 110 0 0.00 58 18 23.68 ACTR10 0 genome.wustl.edu 37 14 58690395 58690395 + Missense_Mutation SNP A A C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 58690395 58690395 A C SNP ACTR10 ENST00000254286 human ensembl 74_37 +1 known missense c.690 p.K230N 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related - no_errors ACTR10 HGNC ENSG00000131966 tier1 - - 93 0 0.00 106 13 10.92 AGAP7 0 genome.wustl.edu 37 10 51465318 51465318 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 51465318 51465318 G T SNP AGAP7 ENST00000374095 human ensembl 74_37 -1 known missense c.1138 p.L380I 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP7 HGNC ENSG00000204169 tier1 - - 243 0 0.00 244 60 19.74 AGBL1 0 genome.wustl.edu 37 15 86822894 86822894 + Silent SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 86822894 86822894 T C SNP AGBL1 ENST00000441037 human ensembl 74_37 +1 known silent c.1962 p.A654 0.006 NULL pfam_Peptidase_M14,superfamily_ARM-type_fold - no_errors AGBL1 HGNC ENSG00000166748 73 0 0.00 59 4 6.35 AGPS 0 genome.wustl.edu 37 2 178305725 178305725 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 178305725 178305725 C G SNP AGPS ENST00000264167 human ensembl 74_37 +1 known missense c.670 p.L224V 1.000 pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2 pfam_FAD-linked_oxidase_C,pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2,superfamily_FAD-linked_Oxase-like_C - no_errors AGPS HGNC ENSG00000018510 tier1 - - 72 0 0.00 67 27 28.72 AHNAK2 0 genome.wustl.edu 37 14 105404547 105404547 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 105404547 105404547 C G SNP AHNAK2 ENST00000333244 human ensembl 74_37 -1 known missense c.17241 p.E5747D 0.000 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 tier1 - - 85 0 0.00 94 11 10.48 ALOX12 0 genome.wustl.edu 37 17 6909289 6909289 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 6909289 6909289 G A SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.1361 p.G454E 0.981 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 tier1 - - 85 0 0.00 84 10 10.64 ANKRD11 0 genome.wustl.edu 37 16 89348761 89348761 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 89348761 89348761 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.4189 p.L1397 0.230 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 24 0 0.00 22 4 15.38 ANKRD11 0 genome.wustl.edu 37 16 89348762 89348762 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 89348762 89348762 G A SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known silent c.4188 p.F1396 0.618 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 25 0 0.00 22 4 15.38 ANKRD11 0 genome.wustl.edu 37 16 89348979 89348979 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 89348979 89348979 G C SNP ANKRD11 ENST00000301030 human ensembl 74_37 -1 known missense c.3971 p.S1324C 0.033 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD11 HGNC ENSG00000167522 tier1 - - 40 0 0.00 48 9 15.79 ANKRD34C 0 genome.wustl.edu 37 15 79586827 79586827 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 79586827 79586827 G A SNP ANKRD34C ENST00000421388 human ensembl 74_37 +1 known missense c.1201 p.G401R 0.996 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD34C HGNC ENSG00000235711 44 0 0.00 67 4 5.63 ANKRD36 0 genome.wustl.edu 37 2 97845601 97845601 + Missense_Mutation SNP A A T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 97845601 97845601 A T SNP ANKRD36 ENST00000420699 human ensembl 74_37 +1 known missense c.1666 p.T556S 0.008 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD36 HGNC ENSG00000135976 tier1 - - 184 0 0.00 263 28 9.62 ANKRD36BP2 0 genome.wustl.edu 37 2 89102984 89102984 + RNA DEL T T - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 89102984 89102984 T 0 DEL ANKRD36BP2 ENST00000393525 human ensembl 74_37 +1 known rna NULL NULL 0.999 - - - no_errors ANKRD36BP2 HGNC ENSG00000230006 10 0 0.00 6 3 33.33 ARHGAP21 0 genome.wustl.edu 37 10 24959283 24959283 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 24959283 24959283 G T SNP ARHGAP21 ENST00000396432 human ensembl 74_37 -1 known nonsense c.107 p.S36* 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 - - 87 0 0.00 83 10 10.75 ARHGAP24 0 genome.wustl.edu 37 4 86916190 86916190 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 4 86916190 86916190 G A SNP ARHGAP24 ENST00000395184 human ensembl 74_37 +1 known silent c.1383 p.R461 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP24 HGNC ENSG00000138639 tier1 - - 61 0 0.00 43 12 21.82 ARHGAP25 0 genome.wustl.edu 37 2 69002786 69002786 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 69002786 69002786 G A SNP ARHGAP25 ENST00000473986 human ensembl 74_37 +1 known missense c.226 p.G76S 0.000 NULL NULL - no_errors ARHGAP25 HGNC ENSG00000163219 tier1 - - 82 0 0.00 114 8 6.56 ARHGAP25 0 genome.wustl.edu 37 2 69015070 69015070 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 69015070 69015070 G A SNP ARHGAP25 ENST00000409202 human ensembl 74_37 +1 known missense c.448 p.A150T 0.925 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom - no_errors ARHGAP25 HGNC ENSG00000163219 76 0 0.00 73 4 5.19 ARHGEF18 0 genome.wustl.edu 37 19 7505303 7505303 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 7505303 7505303 G A SNP ARHGEF18 ENST00000359920 human ensembl 74_37 +1 known missense c.477 p.M159I 1.000 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF18 HGNC ENSG00000104880 45 0 0.00 40 5 11.11 ARID4A 0 genome.wustl.edu 37 14 58796860 58796860 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 58796860 58796860 G T SNP ARID4A ENST00000355431 human ensembl 74_37 +1 known missense c.879 p.K293N 1.000 superfamily_ARID/BRIGHT_DNA-bd pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,smart_Chromo_domain/shadow,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4A HGNC ENSG00000032219 tier1 - - 46 0 0.00 63 4 5.97 ARID4B 0 genome.wustl.edu 37 1 235357397 235357397 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 235357397 235357397 C G SNP ARID4B ENST00000264183 human ensembl 74_37 -1 known missense c.2056 p.D686H 1.000 superfamily_Chromodomain-like pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID4B HGNC ENSG00000054267 tier1 - - 110 0 0.00 127 11 7.97 ARL10 0 genome.wustl.edu 37 5 175795982 175795982 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 175795982 175795982 G C SNP ARL10 ENST00000310389 human ensembl 74_37 +1 known missense c.558 p.K186N 1.000 pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF pfam_Small_GTPase_ARF/SAR,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR - no_errors ARL10 HGNC ENSG00000175414 tier1 - - 161 0 0.00 116 28 19.44 ARMC8 0 genome.wustl.edu 37 3 137928707 137928707 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 137928707 137928707 G C SNP ARMC8 ENST00000469044 human ensembl 74_37 +1 known missense c.94 p.D32H 1.000 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 tier1 - - 66 0 0.00 80 8 9.09 ASB11 0 genome.wustl.edu 37 X 15320924 15320924 + Missense_Mutation SNP A A C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 15320924 15320924 A C SNP ASB11 ENST00000480796 human ensembl 74_37 -1 known missense c.187 p.W63G 1.000 superfamily_Ankyrin_rpt-contain_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,pfscan_SOCS_C - no_errors ASB11 HGNC ENSG00000165192 tier1 - - 53 0 0.00 48 4 7.69 ASTN2 0 genome.wustl.edu 37 9 119976864 119976864 + Missense_Mutation SNP T T G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 119976864 119976864 T G SNP ASTN2 ENST00000313400 human ensembl 74_37 -1 known missense c.788 p.Q263P 1.000 NULL pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF - no_errors ASTN2 HGNC ENSG00000148219 tier1 - - 36 0 0.00 21 14 40.00 ASXL1 0 genome.wustl.edu 37 20 31017787 31017787 + Missense_Mutation SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 31017787 31017787 A G SNP ASXL1 ENST00000375687 human ensembl 74_37 +1 known missense c.649 p.I217V 1.000 NULL NULL - no_errors ASXL1 HGNC ENSG00000171456 tier1 - - 42 0 0.00 42 8 16.00 ATE1 0 genome.wustl.edu 37 10 123659471 123659471 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 123659471 123659471 G C SNP ATE1 ENST00000224652 human ensembl 74_37 -1 known missense c.852 p.F284L 1.000 pirsf_Arg-tRNA-P_Trfase_1_euk pfam_Arg-tRNA-P_Trfase_C,pfam_Arg_tRNA_PTrfase_N,superfamily_Acyl_CoA_acyltransferase,pirsf_Arg-tRNA-P_Trfase_1_euk - no_errors ATE1 HGNC ENSG00000107669 tier1 - - 46 0 0.00 50 7 12.28 ATP1A3 0 genome.wustl.edu 37 19 42492278 42492278 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 42492278 42492278 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.167 p.S56N 1.000 pfam_ATPase_P-typ_cation-transptr_N,smart_ATPase_P-typ_cation-transptr_N,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 ATP1A3 HGNC ENSG00000105409 110 0 0.00 74 4 5.13 ATP9A 0 genome.wustl.edu 37 20 50235275 50235275 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 50235275 50235275 C A SNP ATP9A ENST00000338821 human ensembl 74_37 -1 known missense c.2276 p.R759L 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP9A HGNC ENSG00000054793 tier1 - - 88 0 0.00 71 5 6.58 BAHCC1 0 genome.wustl.edu 37 17 79409094 79409094 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 79409094 79409094 C T SNP BAHCC1 ENST00000307745 human ensembl 74_37 +1 known missense c.719 p.A240V 0.000 NULL pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom - no_errors RP11-1055B8.7 Clone_based_vega_gene ENSG00000171282 43 0 0.00 34 4 10.53 BDP1 0 genome.wustl.edu 37 5 70809019 70809019 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 70809019 70809019 C G SNP BDP1 ENST00000358731 human ensembl 74_37 +1 known missense c.4255 p.L1419V 1.000 NULL superfamily_Homeodomain-like,smart_SANT/Myb - no_errors BDP1 HGNC ENSG00000145734 tier1 - - 102 0 0.00 94 8 7.84 BEND7 0 genome.wustl.edu 37 10 13485270 13485270 + RNA SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 13485270 13485270 G A SNP BEND7 ENST00000480703 human ensembl 74_37 -1 known rna NULL NULL 0.913 - - - no_errors BEND7 HGNC ENSG00000165626 tier1 - - 65 0 0.00 59 8 11.94 BIRC6 0 genome.wustl.edu 37 2 32689617 32689617 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 32689617 32689617 C T SNP BIRC6 ENST00000421745 human ensembl 74_37 +1 known missense c.4982 p.A1661V 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 tier1 - - 68 0 0.00 63 4 5.97 BMP1 0 genome.wustl.edu 37 8 22049619 22049620 + Frame_Shift_Del DEL TA TA - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 TA TA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 22049619 22049620 TA - DEL BMP1 ENST00000306385 human ensembl 74_37 +1 known frame_shift_del c.1135_1136 p.Y379fs 1.000:1.000 pirsf_BMP_1/tolloid-like,pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pirsf_BMP_1/tolloid-like,pfam_CUB_dom,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,smart_Peptidase_Metallo,smart_CUB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,prints_Peptidase_M12A,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors BMP1 HGNC ENSG00000168487 tier1 73 0 0.00 35 6 14.63 BPIFB3 0 genome.wustl.edu 37 20 31652538 31652538 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 31652538 31652538 C T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known missense c.811 p.P271S 0.997 superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 63 0 0.00 53 4 7.02 BRPF1 0 genome.wustl.edu 37 3 9781322 9781322 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 9781322 9781322 C T SNP BRPF1 ENST00000383829 human ensembl 74_37 +1 known silent c.1239 p.C413 0.988 superfamily_Znf_FYVE_PHD,smart_Znf_PHD pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP_dom,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain,prints_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 39 0 0.00 30 2 6.25 C15orf61 0 genome.wustl.edu 37 15 67813772 67813772 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 67813772 67813772 G A SNP C15orf61 ENST00000342683 human ensembl 74_37 +1 known silent c.186 p.Q62 1.000 NULL NULL - no_errors C15orf61 HGNC ENSG00000189227 35 0 0.00 31 5 13.89 C16orf89 0 genome.wustl.edu 37 16 5106102 5106102 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 5106102 5106102 C T SNP C16orf89 ENST00000350219 human ensembl 74_37 -1 known missense c.829 p.E277K 0.774 NULL NULL - no_errors C16orf89 HGNC ENSG00000153446 tier1 - - 87 0 0.00 37 17 30.91 C2orf42 0 genome.wustl.edu 37 2 70377611 70377611 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 70377611 70377611 C T SNP C2orf42 ENST00000264434 human ensembl 74_37 -1 known silent c.1602 p.E534 1.000 NULL NULL - no_errors C2orf42 HGNC ENSG00000115998 tier1 - - 93 0 0.00 76 4 5.00 C6orf106 0 genome.wustl.edu 37 6 34574418 34574418 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 34574418 34574418 G C SNP C6orf106 ENST00000374023 human ensembl 74_37 -1 known missense c.775 p.Q259E 1.000 NULL superfamily_UBA-like - no_errors C6orf106 HGNC ENSG00000196821 tier1 - - 121 0 0.00 92 10 9.80 C7orf49 0 genome.wustl.edu 37 7 134779120 134779120 + RNA SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 134779120 134779120 G T SNP C7orf49 ENST00000459937 human ensembl 74_37 -1 known rna NULL NULL 0.012 - - - no_errors C7orf49 HGNC ENSG00000122783 tier1 - - 73 0 0.00 54 4 6.90 C7orf66 0 genome.wustl.edu 37 7 108524135 108524135 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 108524135 108524135 C T SNP C7orf66 ENST00000379007 human ensembl 74_37 -1 putative missense c.277 p.A93T 0.001 NULL NULL - no_errors C7orf66 HGNC ENSG00000205174 tier1 - - 63 0 0.00 68 20 22.73 CACNA1C-AS1 0 genome.wustl.edu 37 12 2786183 2786184 + RNA INS - - A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 2786183 2786184 - A INS CACNA1C-AS1 ENST00000501371 human ensembl 74_37 -1 known rna NULL NULL 0.733:0.778 - - - no_errors CACNA1C-AS1 HGNC ENSG00000246627 tier1 28 0 0.00 25 5 16.67 CACNA1F 0 genome.wustl.edu 37 X 49076202 49076202 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 49076202 49076202 C G SNP CACNA1F ENST00000376265 human ensembl 74_37 -1 known missense c.2467 p.E823Q 0.008 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su - no_errors CACNA1F HGNC ENSG00000102001 20 0 0.00 15 4 21.05 CADM4 0 genome.wustl.edu 37 19 44130331 44130331 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 44130331 44130331 G A SNP CADM4 ENST00000222374 human ensembl 74_37 -1 known silent c.609 p.N203 1.000 pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_CD80_C2-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM4 HGNC ENSG00000105767 tier1 - - 44 0 0.00 39 6 13.33 CAPN15 0 genome.wustl.edu 37 16 597619 597619 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 597619 597619 G A SNP CAPN15 ENST00000219611 human ensembl 74_37 +1 known missense c.781 p.E261K 1.000 NULL pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN15 HGNC ENSG00000103326 tier1 - - 41 0 0.00 19 8 29.63 CAPZA2 0 genome.wustl.edu 37 7 116502691 116502691 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 116502691 116502691 C G SNP CAPZA2 ENST00000361183 human ensembl 74_37 +1 known missense c.26 p.S9C 1.000 NULL pfam_CapZ_alpha,prints_CapZ_alpha - no_errors CAPZA2 HGNC ENSG00000198898 tier1 - - 8 0 0.00 5 6 54.55 CARD8 0 genome.wustl.edu 37 19 48696374 48696374 + RNA SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 48696374 48696374 G A SNP CARD8 ENST00000600800 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors CARD8 HGNC ENSG00000105483 tier1 - - 69 0 0.00 79 6 7.06 CASKIN2 0 genome.wustl.edu 37 17 73497977 73497977 + Nonsense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 73497977 73497977 G A SNP CASKIN2 ENST00000321617 human ensembl 74_37 -1 known nonsense c.3178 p.Q1060* 0.016 NULL pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_SH3_domain,prints_Ankyrin_rpt - no_errors CASKIN2 HGNC ENSG00000177303 tier1 - - 62 0 0.00 65 4 5.80 CASZ1 0 genome.wustl.edu 37 1 10708141 10708141 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 10708141 10708141 G A SNP CASZ1 ENST00000377022 human ensembl 74_37 -1 known missense c.3214 p.P1072S 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CASZ1 HGNC ENSG00000130940 tier1 - - 102 0 0.00 83 20 19.23 CCDC157 0 genome.wustl.edu 37 22 30772437 30772437 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 22 30772437 30772437 G A SNP CCDC157 ENST00000338306 human ensembl 74_37 +1 known silent c.1962 p.Q654 0.021 NULL superfamily_Prefoldin,superfamily_t-SNARE - no_errors CCDC157 HGNC ENSG00000187860 99 0 0.00 70 4 5.41 CDC23 0 genome.wustl.edu 37 5 137534426 137534426 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 137534426 137534426 G T SNP CDC23 ENST00000394886 human ensembl 74_37 -1 known missense c.700 p.L234M 1.000 pfscan_TPR-contain_dom pfam_APC8,pfam_TPR_1,pfam_Transposase_InsH_N,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CDC23 HGNC ENSG00000094880 43 0 0.00 33 2 5.71 CELP 0 genome.wustl.edu 37 9 135962591 135962593 + RNA DEL TGT TGT - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 TGT TGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 135962591 135962593 TGT - DEL CELP ENST00000411440 human ensembl 74_37 +1 known rna NULL NULL 0.004:0.003:0.001 - - - no_errors CELP HGNC ENSG00000170827 tier1 18 0 0.00 11 4 26.67 CEP97 0 genome.wustl.edu 37 3 101474436 101474436 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 101474436 101474436 G T SNP CEP97 ENST00000327230 human ensembl 74_37 +1 known missense c.891 p.Q297H 1.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors CEP97 HGNC ENSG00000182504 tier1 - - 48 0 0.00 40 4 9.09 CHPF 0 genome.wustl.edu 37 2 220404580 220404580 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 220404580 220404580 G T SNP CHPF ENST00000243776 human ensembl 74_37 -1 known missense c.1853 p.T618K 0.998 pfam_Chond_GalNAc pfam_Chond_GalNAc - no_errors CHPF HGNC ENSG00000123989 57 0 0.00 35 3 7.89 CHST13 0 genome.wustl.edu 37 3 126260800 126260800 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 126260800 126260800 G A SNP CHST13 ENST00000319340 human ensembl 74_37 +1 known silent c.405 p.P135 0.240 pfam_Sulfotransferase pfam_Sulfotransferase - no_errors CHST13 HGNC ENSG00000180767 38 0 0.00 18 4 18.18 CIT 0 genome.wustl.edu 37 12 120128164 120128164 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 120128164 120128164 C T SNP CIT ENST00000261833 human ensembl 74_37 -1 known missense c.5852 p.R1951Q 1.000 pirsf_Citron_Rho-interacting_kinase pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,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,pirsf_Citron_Rho-interacting_kinase,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors CIT HGNC ENSG00000122966 tier1 - - 58 0 0.00 45 10 18.18 CLEC14A 0 genome.wustl.edu 37 14 38724231 38724231 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 38724231 38724231 C A SNP CLEC14A ENST00000342213 human ensembl 74_37 -1 known missense c.997 p.V333F 0.000 NULL superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC14A HGNC ENSG00000176435 tier1 - - 38 0 0.00 35 7 16.67 CLEC17A 0 genome.wustl.edu 37 19 14717876 14717876 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 14717876 14717876 G A SNP CLEC17A ENST00000417570 human ensembl 74_37 +1 known silent c.966 p.G322 0.249 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII - no_errors CLEC17A HGNC ENSG00000187912 tier1 - - 93 0 0.00 64 13 16.88 CLPTM1L 0 genome.wustl.edu 37 5 1344846 1344846 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 1344846 1344846 G A SNP CLPTM1L ENST00000320895 human ensembl 74_37 -1 known silent c.111 p.S37 0.086 pfam_CLPTM1 pfam_CLPTM1 - no_errors CLPTM1L HGNC ENSG00000049656 tier1 - - 37 0 0.00 35 5 12.50 CMTR1 0 genome.wustl.edu 37 6 37414120 37414120 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 37414120 37414120 G A SNP CMTR1 ENST00000373451 human ensembl 74_37 +1 known silent c.339 p.R113 1.000 pfam_G_patch_dom,smart_G_patch_dom,pfscan_G_patch_dom pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_dom,pfscan_G_patch_dom - no_errors CMTR1 HGNC ENSG00000137200 tier1 - - 76 0 0.00 74 12 13.95 CNOT3 0 genome.wustl.edu 37 19 54652448 54652448 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 54652448 54652448 C T SNP CNOT3 ENST00000221232 human ensembl 74_37 +1 known missense c.1376 p.S459F 0.067 pirsf_CCR4-NOT_su3/5 pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5 - no_errors CNOT3 HGNC ENSG00000088038 93 0 0.00 74 4 5.13 CNTN1 0 genome.wustl.edu 37 12 41408098 41408098 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 41408098 41408098 G C SNP CNTN1 ENST00000347616 human ensembl 74_37 +1 known missense c.2182 p.A728P 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,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 CNTN1 HGNC ENSG00000018236 tier1 - - 95 0 0.00 115 7 5.74 CNTRL 0 genome.wustl.edu 37 9 123870109 123870109 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 123870109 123870109 G C SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.838 p.E280Q 1.000 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 69 0 0.00 57 7 10.61 COCH 0 genome.wustl.edu 37 14 31355479 31355479 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 31355479 31355479 G A SNP COCH ENST00000216361 human ensembl 74_37 +1 known missense c.1438 p.D480N 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_LCCL,superfamily_LCCL,smart_LCCL,smart_VWF_A,pfscan_LCCL,pfscan_VWF_A - no_errors COCH HGNC ENSG00000100473 tier1 - - 67 0 0.00 82 11 11.83 COL11A1 0 genome.wustl.edu 37 1 103491477 103491477 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 103491477 103491477 C A SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known missense c.812 p.R271M 0.997 NULL 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 - - 62 0 0.00 53 5 8.62 COL11A1 0 genome.wustl.edu 37 1 103444649 103444649 + Silent SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 103444649 103444649 G T SNP COL11A1 ENST00000358392 human ensembl 74_37 -1 known silent c.2658 p.G886 1.000 NULL 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 59 0 0.00 56 4 6.67 COL4A2-AS2 0 genome.wustl.edu 37 13 111109911 111109911 + RNA SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 13 111109911 111109911 C T SNP COL4A2-AS2 ENST00000458403 human ensembl 74_37 -1 known rna NULL NULL 0.007 - - - no_errors COL4A2-AS2 HGNC ENSG00000224821 tier1 - - 57 0 0.00 50 6 10.71 CYP39A1 0 genome.wustl.edu 37 6 46554852 46554852 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 46554852 46554852 G C SNP CYP39A1 ENST00000275016 human ensembl 74_37 -1 known missense c.1212 p.F404L 0.638 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I - no_errors CYP39A1 HGNC ENSG00000146233 tier1 - - 81 0 0.00 87 29 25.00 CYP4F8 0 genome.wustl.edu 37 19 15734900 15734900 + RNA SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 15734900 15734900 G C SNP CYP4F8 ENST00000325723 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CYP4F8 HGNC ENSG00000186526 tier1 - - 160 0 0.00 150 36 19.35 CYTIP 0 genome.wustl.edu 37 2 158300421 158300421 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 158300421 158300421 C T SNP CYTIP ENST00000264192 human ensembl 74_37 -1 known missense c.112 p.D38N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors CYTIP HGNC ENSG00000115165 tier1 - - 77 0 0.00 96 13 11.71 DAAM2 0 genome.wustl.edu 37 6 39835345 39835345 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 39835345 39835345 G T SNP DAAM2 ENST00000274867 human ensembl 74_37 +1 known missense c.488 p.S163I 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 DAAM2 HGNC ENSG00000146122 tier1 - - 81 0 0.00 76 4 5.00 DAGLA 0 genome.wustl.edu 37 11 61496471 61496471 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 61496471 61496471 C T SNP DAGLA ENST00000257215 human ensembl 74_37 +1 known silent c.840 p.L280 0.997 NULL pfam_Lipase_3 - no_errors DAGLA HGNC ENSG00000134780 tier1 - - 57 0 0.00 43 22 33.85 DDX26B 0 genome.wustl.edu 37 X 134716221 134716221 + RNA SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 134716221 134716221 T C SNP DDX26B ENST00000481429 human ensembl 74_37 +1 known rna NULL NULL 0.998 - - - no_errors DDX26B HGNC ENSG00000165359 tier1 - - 18 0 0.00 17 11 39.29 DDX39A 0 genome.wustl.edu 37 19 14520777 14520777 + Frame_Shift_Del DEL G G - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 14520777 14520777 G - DEL DDX39A ENST00000454233 human ensembl 74_37 -1 known frame_shift_del c.749 p.S250fs 0.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX39A HGNC ENSG00000123136 tier1 51 0 0.00 46 6 11.54 DEK 0 genome.wustl.edu 37 6 18255979 18255979 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 18255979 18255979 G C SNP DEK ENST00000397239 human ensembl 74_37 -1 known missense c.556 p.P186A 1.000 NULL pfam_DEK_C,pfam_SAP_dom,smart_SAP_dom - no_errors DEK HGNC ENSG00000124795 tier1 - - 52 0 0.00 51 5 8.77 DLC1 0 genome.wustl.edu 37 8 12946153 12946153 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 12946153 12946153 C G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known missense c.4135 p.E1379Q 0.991 pfam_START_lipid-bd_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 96 0 0.00 97 15 13.39 DLGAP3 0 genome.wustl.edu 37 1 35370982 35370982 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 35370982 35370982 C T SNP DLGAP3 ENST00000235180 human ensembl 74_37 -1 known missense c.3 p.M1I 1.000 NULL pfam_GKAP - no_errors DLGAP3 HGNC ENSG00000116544 103 0 0.00 71 4 5.33 DLGAP5 0 genome.wustl.edu 37 14 55644016 55644016 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 55644016 55644016 C G SNP DLGAP5 ENST00000247191 human ensembl 74_37 -1 known missense c.813 p.L271F 0.044 NULL pfam_GKAP - no_errors DLGAP5 HGNC ENSG00000126787 tier1 - - 38 0 0.00 42 24 36.36 DNAH3 0 genome.wustl.edu 37 16 21042473 21042473 + Missense_Mutation SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 21042473 21042473 T C SNP DNAH3 ENST00000261383 human ensembl 74_37 -1 known missense c.5333 p.E1778G 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 tier1 - - 66 0 0.00 75 11 12.79 DNAH7 0 genome.wustl.edu 37 2 196671473 196671473 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 196671473 196671473 C T SNP DNAH7 ENST00000312428 human ensembl 74_37 -1 known silent c.10167 p.R3389 1.000 pfam_Dynein_heavy_dom pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_P-loop_NTPase,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_hand_dom - no_errors DNAH7 HGNC ENSG00000118997 tier1 - - 72 0 0.00 70 4 5.41 DNAJC14 0 genome.wustl.edu 37 12 56217248 56217248 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 56217248 56217248 G C SNP DNAJC14 ENST00000317269 human ensembl 74_37 -1 known missense c.1452 p.F484L 1.000 pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DNAJC14 HGNC ENSG00000135392 39 0 0.00 36 3 7.69 DOCK3 0 genome.wustl.edu 37 3 51413181 51413181 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 51413181 51413181 G A SNP DOCK3 ENST00000266037 human ensembl 74_37 +1 known silent c.5415 p.P1805 0.996 NULL pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK3 HGNC ENSG00000088538 86 0 0.00 76 4 5.00 DPY19L2P3 0 genome.wustl.edu 37 7 29727025 29727025 + RNA SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 29727025 29727025 T C SNP DPY19L2P3 ENST00000602965 human ensembl 74_37 +1 known rna NULL NULL 0.238 - - - no_errors AC007276.5 Clone_based_vega_gene ENSG00000227855 tier1 - - 203 0 0.00 181 26 12.56 DSCR3 0 genome.wustl.edu 37 21 38639762 38639763 + RNA INS - - C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 21 38639762 38639763 - C INS DSCR3 ENST00000399000 human ensembl 74_37 -1 known rna NULL NULL 0.001:0.001 - - - no_errors DSCR3 HGNC ENSG00000157538 tier1 27 0 0.00 17 4 19.05 ECE2 0 genome.wustl.edu 37 3 184005730 184005730 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 184005730 184005730 G C SNP ECE2 ENST00000402825 human ensembl 74_37 +1 known missense c.1723 p.E575Q 1.000 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C - no_errors ECE2 HGNC ENSG00000145194 tier1 - - 77 0 0.00 47 14 22.95 EFR3A 0 genome.wustl.edu 37 8 132982840 132982840 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 132982840 132982840 C A SNP EFR3A ENST00000254624 human ensembl 74_37 +1 known missense c.1109 p.S370Y 0.901 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3A HGNC ENSG00000132294 tier1 - - 79 0 0.00 141 16 10.19 EIF2D 0 genome.wustl.edu 37 1 206767028 206767028 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 206767028 206767028 C T SNP EIF2D ENST00000271764 human ensembl 74_37 -1 known missense c.1624 p.D542N 1.000 pfam_TIF_SUI1,superfamily_TIF_SUI1,pfscan_TIF_SUI1 pfam_TIF_SUI1,superfamily_TIF_SUI1,superfamily_SWIB_MDM2_domain,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,pfscan_TIF_SUI1 - no_errors EIF2D HGNC ENSG00000143486 tier1 - - 71 0 0.00 93 5 5.10 ELOVL7 0 genome.wustl.edu 37 5 60053363 60053363 + Nonsense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 60053363 60053363 C T SNP ELOVL7 ENST00000425382 human ensembl 74_37 -1 known nonsense c.609 p.W203* 1.000 pfam_GNS1_SUR4 pfam_GNS1_SUR4 - no_errors ELOVL7 HGNC ENSG00000164181 tier1 - - 71 0 0.00 107 9 7.76 EMR3 0 genome.wustl.edu 37 19 14769356 14769356 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 14769356 14769356 G T SNP EMR3 ENST00000253673 human ensembl 74_37 -1 known missense c.362 p.T121N 0.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_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,prints_GPCR_2_CD97 - no_errors EMR3 HGNC ENSG00000131355 49 0 0.00 52 3 5.45 ENSG00000173213 0 genome.wustl.edu 37 18 73353 73353 + RNA SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 73353 73353 G A SNP ENSG00000173213 ENST00000572530 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-683L23.1 Clone_based_vega_gene ENSG00000173213 tier1 - - 38 0 0.00 40 11 21.57 ENSG00000206113 0 genome.wustl.edu 37 4 2446901 2446901 + RNA SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 4 2446901 2446901 G A SNP ENSG00000206113 ENST00000514556 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-503N18.1 Clone_based_vega_gene ENSG00000206113 tier1 - - 147 0 0.00 73 17 18.89 ENSG00000215022 0 genome.wustl.edu 37 6 13281263 13281263 + RNA SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 13281263 13281263 C T SNP ENSG00000215022 ENST00000606150 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP1-257A7.4 Clone_based_vega_gene ENSG00000215022 tier1 - - 59 0 0.00 52 11 17.46 ENSG00000228436 0 genome.wustl.edu 37 1 39341814 39341814 + RNA SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 39341814 39341814 G C SNP ENSG00000228436 ENST00000443161 human ensembl 74_37 +1 known rna NULL NULL 0.076 - - - no_errors RP5-864K19.4 Clone_based_vega_gene ENSG00000228436 tier1 - - 91 0 0.00 107 16 13.01 ENSG00000234203 0 genome.wustl.edu 37 17 4877798 4877798 + RNA SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 4877798 4877798 G C SNP ENSG00000234203 ENST00000430920 human ensembl 74_37 +1 known rna NULL NULL 0.583 - - - no_errors RP5-1050D4.2 Clone_based_vega_gene ENSG00000234203 tier1 - - 76 0 0.00 72 11 13.10 ENSG00000266981 0 genome.wustl.edu 37 17 33518263 33518263 + RNA SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 33518263 33518263 T C SNP ENSG00000266981 ENST00000590144 human ensembl 74_37 +1 putative rna NULL NULL 0.862 - - - no_errors RP11-799D4.2 Clone_based_vega_gene ENSG00000266981 tier1 - - 26 0 0.00 22 3 12.00 ENSG00000267165 0 genome.wustl.edu 37 18 11852310 11852310 + RNA SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 11852310 11852310 A G SNP ENSG00000267165 ENST00000586474 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors RP11-78A19.3 Clone_based_vega_gene ENSG00000267165 tier1 - - 63 0 0.00 73 14 15.91 ENSG00000267628 0 genome.wustl.edu 37 18 77013611 77013611 + RNA SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 77013611 77013611 C G SNP ENSG00000267628 ENST00000591742 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors RP11-1136J12.1 Clone_based_vega_gene ENSG00000267628 tier1 - - 40 0 0.00 34 14 29.17 EPG5 0 genome.wustl.edu 37 18 43510751 43510751 + Missense_Mutation SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 43510751 43510751 T C SNP EPG5 ENST00000282041 human ensembl 74_37 -1 known missense c.2303 p.N768S 1.000 NULL NULL - no_errors EPG5 HGNC ENSG00000152223 tier1 rs61736031 - 142 0 0.00 75 19 20.21 ERBB3 0 genome.wustl.edu 37 12 56487277 56487277 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 56487277 56487277 C T SNP ERBB3 ENST00000267101 human ensembl 74_37 +1 known missense c.1423 p.R475W 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_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 47 0 0.00 35 2 5.41 ESRRA 0 genome.wustl.edu 37 11 64081786 64081786 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 64081786 64081786 C T SNP ESRRA ENST00000000442 human ensembl 74_37 +1 known missense c.518 p.P173L 0.995 superfamily_Nucl_hormone_rcpt_ligand-bd 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 ESRRA HGNC ENSG00000173153 tier1 - - 95 0 0.00 63 9 12.50 EVC 0 genome.wustl.edu 37 4 5735137 5735137 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 4 5735137 5735137 C T SNP EVC ENST00000264956 human ensembl 74_37 +1 known missense c.677 p.T226M 0.007 NULL NULL - no_errors EVC HGNC ENSG00000072840 39 0 0.00 41 3 6.67 FAM193A 0 genome.wustl.edu 37 4 2696769 2696769 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 4 2696769 2696769 G A SNP FAM193A ENST00000324666 human ensembl 74_37 +1 known silent c.2316 p.E772 1.000 NULL NULL - no_errors FAM193A HGNC ENSG00000125386 tier1 - - 58 0 0.00 50 4 7.41 FAM220A 0 genome.wustl.edu 37 7 6370417 6370417 + Silent SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 6370417 6370417 T C SNP FAM220A ENST00000313324 human ensembl 74_37 -1 known silent c.369 p.E123 0.000 NULL NULL - no_errors FAM220A HGNC ENSG00000178397 tier1 - - 106 0 0.00 102 12 10.53 FAM65A 0 genome.wustl.edu 37 16 67577114 67577114 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 67577114 67577114 C T SNP FAM65A ENST00000422602 human ensembl 74_37 +1 known missense c.2485 p.P829S 0.991 NULL superfamily_ARM-type_fold,superfamily_HR1_rho-bd - no_errors FAM65A HGNC ENSG00000039523 tier1 - - 200 0 0.00 180 39 17.81 FANCB 0 genome.wustl.edu 37 X 14863402 14863402 + Silent SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 14863402 14863402 C G SNP FANCB ENST00000324138 human ensembl 74_37 -1 known silent c.1503 p.L501 0.000 NULL NULL - no_errors FANCB HGNC ENSG00000181544 tier1 - - 35 0 0.00 31 8 20.51 FBXW12 0 genome.wustl.edu 37 3 48423318 48423318 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 48423318 48423318 C G SNP FBXW12 ENST00000296438 human ensembl 74_37 +1 known missense c.1114 p.L372V 0.002 superfamily_Quino_amine_DH_bsu pfam_F-box_dom,superfamily_Quino_amine_DH_bsu,superfamily_F-box_dom,smart_F-box_dom,pfscan_F-box_dom - no_errors FBXW12 HGNC ENSG00000164049 tier1 - - 91 0 0.00 74 11 12.94 FCRL3 0 genome.wustl.edu 37 1 157650813 157650813 + Missense_Mutation SNP T T G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 157650813 157650813 T G SNP FCRL3 ENST00000492769 human ensembl 74_37 -1 known missense c.1933 p.K645Q 0.001 NULL pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL3 HGNC ENSG00000160856 tier1 - - 60 0 0.00 49 11 18.33 FERMT2 0 genome.wustl.edu 37 14 53325210 53325210 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 53325210 53325210 C T SNP FERMT2 ENST00000343279 human ensembl 74_37 -1 known missense c.1949 p.C650Y 1.000 NULL pfam_FERM_central,pfam_Pleckstrin_homology,pfam_FERM_N,superfamily_FERM_central,smart_Band_41_domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors FERMT2 HGNC ENSG00000073712 72 0 0.00 75 4 5.06 FMN2 0 genome.wustl.edu 37 1 240371346 240371346 + Silent SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 240371346 240371346 C A SNP FMN2 ENST00000319653 human ensembl 74_37 +1 known silent c.3234 p.P1078 0.000 pfam_Formin_homology_1,smart_FH2_Formin pfam_FH2_Formin,pfam_Formin_homology_1,smart_FH2_Formin,pfscan_DEP_dom - no_errors FMN2 HGNC ENSG00000155816 tier1 - - 91 0 0.00 46 14 23.33 FNDC3B 0 genome.wustl.edu 37 3 172115069 172115069 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 172115069 172115069 G T SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.3419 p.G1140V 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 tier1 - - 42 0 0.00 41 8 16.33 FRG1B 0 genome.wustl.edu 37 20 29631557 29631557 + Missense_Mutation SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 29631557 29631557 A G SNP FRG1B ENST00000278882 human ensembl 74_37 +1 known missense c.353 p.K118R 1.000 pfam_FRG1 pfam_FRG1,superfamily_Actin_cross-linking - no_errors FRG1B HGNC ENSG00000149531 35 0 0.00 54 5 8.47 FUT10 0 genome.wustl.edu 37 8 33247192 33247192 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 33247192 33247192 G T SNP FUT10 ENST00000327671 human ensembl 74_37 -1 known missense c.501 p.F167L 1.000 pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met pfam_Glyco_trans_10,pirsf_Alpha-1_3-FUT_met - no_errors FUT10 HGNC ENSG00000172728 tier1 - - 97 0 0.00 71 7 8.97 GAS6 0 genome.wustl.edu 37 13 114535349 114535349 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 13 114535349 114535349 C T SNP GAS6 ENST00000357389 human ensembl 74_37 -1 known missense c.1195 p.E399K 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 tier1 - - 50 0 0.00 42 6 12.50 GCG 0 genome.wustl.edu 37 2 163003871 163003871 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 163003871 163003871 C G SNP GCG ENST00000375497 human ensembl 74_37 -1 known missense c.246 p.K82N 1.000 NULL pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 tier1 - - 65 0 0.00 58 9 13.43 GEMIN5 0 genome.wustl.edu 37 5 154291332 154291332 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 154291332 154291332 G A SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.2122 p.H708Y 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 tier1 - - 62 0 0.00 56 4 6.67 GNA15 0 genome.wustl.edu 37 19 3162843 3162843 + Silent SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 3162843 3162843 G T SNP GNA15 ENST00000262958 human ensembl 74_37 +1 known silent c.951 p.T317 0.000 pfam_Gprotein_alpha_su,superfamily_P-loop_NTPase,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_Q - no_errors GNA15 HGNC ENSG00000060558 tier1 - - 80 0 0.00 65 9 12.16 GNPTG 0 genome.wustl.edu 37 16 1412296 1412296 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 1412296 1412296 C T SNP GNPTG ENST00000204679 human ensembl 74_37 +1 known silent c.501 p.L167 0.179 superfamily_Man6P_isomerase_rcpt-bd_dom pfam_PRKCSH,superfamily_Man6P_isomerase_rcpt-bd_dom - no_errors GNPTG HGNC ENSG00000090581 tier1 - - 113 0 0.00 62 17 21.52 GPR158 0 genome.wustl.edu 37 10 25465155 25465155 + Missense_Mutation SNP A A T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 25465155 25465155 A T SNP GPR158 ENST00000376351 human ensembl 74_37 +1 known missense c.806 p.Y269F 1.000 NULL pfam_GPCR_3_C,pfscan_GPCR_3_C - no_errors GPR158 HGNC ENSG00000151025 77 0 0.00 59 5 7.81 GRIA3 0 genome.wustl.edu 37 X 122318457 122318457 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 122318457 122318457 G A SNP GRIA3 ENST00000264357 human ensembl 74_37 +1 known missense c.70 p.G24S 1.000 NULL pfam_Iontro_glu_rcpt,pfam_ANF_lig-bd_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 GRIA3 HGNC ENSG00000125675 tier1 - - 226 0 0.00 161 88 35.34 GRM6 0 genome.wustl.edu 37 5 178413676 178413676 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 178413676 178413676 G A SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.1579 p.R527W 1.000 pfam_GPCR_3_9-Cys_dom 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 tier1 rs149199617 - 72 0 0.00 51 14 21.54 GTF2IRD2P1 0 genome.wustl.edu 37 7 72664015 72664015 + RNA SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 72664015 72664015 C G SNP GTF2IRD2P1 ENST00000425256 human ensembl 74_37 -1 known rna NULL NULL 0.912 - - - no_errors GTF2IRD2P1 HGNC ENSG00000214544 tier1 - - 24 0 0.00 16 6 27.27 GTPBP4 0 genome.wustl.edu 37 10 1061784 1061784 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 1061784 1061784 G C SNP GTPBP4 ENST00000360803 human ensembl 74_37 +1 known missense c.1700 p.S567T 1.000 NULL pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,superfamily_P-loop_NTPase,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors GTPBP4 HGNC ENSG00000107937 tier1 - - 161 0 0.00 134 20 12.99 GYS1 0 genome.wustl.edu 37 19 49484891 49484891 + Nonstop_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 49484891 49484891 C A SNP GYS1 ENST00000540532 human ensembl 74_37 -1 known nonstop c.707 p.*236L 1.000 NULL pfam_Glycogen_synth,pfam_Starch_synth_cat_dom - no_errors GYS1 HGNC ENSG00000104812 tier1 - - 80 0 0.00 58 9 13.43 HBA2 0 genome.wustl.edu 37 16 223305 223305 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 223305 223305 C T SNP HBA2 ENST00000251595 human ensembl 74_37 +1 known missense c.277 p.R93W 0.961 pfam_Globin,superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,prints_Haemoglobin_a,prints_Haemoglobin_pi,pfscan_Globin - no_errors HBA2 HGNC ENSG00000188536 tier1 - - 88 0 0.00 76 10 11.63 HCN1 0 genome.wustl.edu 37 5 45262502 45262502 + Nonsense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 45262502 45262502 G A SNP HCN1 ENST00000303230 human ensembl 74_37 -1 known nonsense c.2194 p.Q732* 1.000 NULL pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG - no_errors HCN1 HGNC ENSG00000164588 55 0 0.00 52 4 7.14 HELZ2 0 genome.wustl.edu 37 20 62192573 62192573 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 62192573 62192573 G A SNP HELZ2 ENST00000467148 human ensembl 74_37 -1 known silent c.7008 p.V2336 0.996 superfamily_P-loop_NTPase superfamily_P-loop_NTPase - no_errors HELZ2 HGNC ENSG00000130589 tier1 - - 68 0 0.00 56 8 12.31 HLA-V 0 genome.wustl.edu 37 6 29761162 29761162 + RNA SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 29761162 29761162 C G SNP HLA-V ENST00000457107 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors HLA-V HGNC ENSG00000181126 tier1 - - 32 0 0.00 35 6 14.63 HMCES 0 genome.wustl.edu 37 3 129009630 129009630 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 129009630 129009630 C G SNP HMCES ENST00000383463 human ensembl 74_37 +1 known missense c.436 p.Q146E 1.000 pfam_DUF159,superfamily_DUF159 pfam_DUF159,superfamily_DUF159 - no_errors HMCES HGNC ENSG00000183624 tier1 - - 133 0 0.00 104 39 27.27 HOXB7 0 genome.wustl.edu 37 17 46687889 46687889 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 46687889 46687889 C T SNP HOXB7 ENST00000239165 human ensembl 74_37 -1 known missense c.392 p.R131Q 1.000 prints_Homeobox_antennapedia pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa,prints_Homeobox_antennapedia - no_errors HOXB7 HGNC ENSG00000260027 tier1 - - 127 0 0.00 98 8 7.55 HRH2 0 genome.wustl.edu 37 5 175111023 175111023 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 175111023 175111023 G A SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.787 p.D263N 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 44 0 0.00 38 2 5.00 HSPG2 0 genome.wustl.edu 37 1 22149948 22149948 + Frame_Shift_Del DEL C C - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 22149948 22149948 C - DEL HSPG2 ENST00000374695 human ensembl 74_37 -1 known frame_shift_del c.13037 p.G4346fs 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA_dom,pfscan_Ig-like_dom,prints_LDrepeatLR_classA_rpt - no_errors HSPG2 HGNC ENSG00000142798 tier1 29 0 0.00 25 3 10.71 IDE 0 genome.wustl.edu 37 10 94274755 94274755 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 94274755 94274755 C G SNP IDE ENST00000265986 human ensembl 74_37 -1 known missense c.706 p.D236H 1.000 superfamily_Metalloenz_LuxS/M16 pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_LuxS/M16 - no_errors IDE HGNC ENSG00000119912 tier1 - - 93 0 0.00 109 16 12.80 IGF2BP1 0 genome.wustl.edu 37 17 47103868 47103868 + Missense_Mutation SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 47103868 47103868 A G SNP IGF2BP1 ENST00000290341 human ensembl 74_37 +1 known missense c.326 p.N109S 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom - no_errors IGF2BP1 HGNC ENSG00000159217 tier1 - - 84 0 0.00 97 34 25.95 IGSF3 0 genome.wustl.edu 37 1 117156526 117156526 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 117156526 117156526 G A SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known silent c.693 p.L231 1.000 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 86 0 0.00 100 11 9.82 IL17F 0 genome.wustl.edu 37 6 52103596 52103596 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 52103596 52103596 G C SNP IL17F ENST00000336123 human ensembl 74_37 -1 known missense c.186 p.I62M 0.034 pfam_IL-17_fam pfam_IL-17_fam,prints_IL-17_chr - no_errors IL17F HGNC ENSG00000112116 tier1 - - 147 0 0.00 123 29 19.08 IL2RG 0 genome.wustl.edu 37 X 70327739 70327739 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 70327739 70327739 C G SNP IL2RG ENST00000374202 human ensembl 74_37 -1 known missense c.957 p.E319D 0.996 NULL pfam_IL-6_rcpt_alpha-bd,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL2RG HGNC ENSG00000147168 tier1 - - 154 0 0.00 119 34 21.94 JAG1 0 genome.wustl.edu 37 20 10653641 10653641 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 10653641 10653641 G T SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known nonsense c.95 p.S32* 1.000 pfam_Notch_ligand_N 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 - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 137 0 0.00 121 33 21.43 JAKMIP1 0 genome.wustl.edu 37 4 6082040 6082040 + Splice_Site SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 4 6082040 6082040 C G SNP JAKMIP1 ENST00000409021 human ensembl 74_37 -1 known splice_site c.1102-1 e6-1 1.000 - - - no_errors JAKMIP1 HGNC ENSG00000152969 tier1 - - 55 0 0.00 40 4 9.09 JPH3 0 genome.wustl.edu 37 16 87637902 87637902 + RNA SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 87637902 87637902 G C SNP JPH3 ENST00000301008 human ensembl 74_37 +1 known rna NULL NULL 0.020 - - - no_errors JPH3 HGNC ENSG00000154118 77 0 0.00 56 4 6.67 KCNJ9 0 genome.wustl.edu 37 1 160054107 160054107 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 160054107 160054107 C G SNP KCNJ9 ENST00000368088 human ensembl 74_37 +1 known missense c.287 p.A96G 0.969 pfam_K_chnl_inward-rec_Kir,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 - - 96 0 0.00 75 5 6.25 KDM6A 0 genome.wustl.edu 37 X 44949070 44949070 + Frame_Shift_Del DEL A A - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 44949070 44949070 A - DEL KDM6A ENST00000382899 human ensembl 74_37 +1 known frame_shift_del c.3652 p.I1218fs 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TPR_1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors KDM6A HGNC ENSG00000147050 tier1 90 0 0.00 56 12 17.65 KERA 0 genome.wustl.edu 37 12 91449833 91449833 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 91449833 91449833 G C SNP KERA ENST00000266719 human ensembl 74_37 -1 known missense c.226 p.L76V 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp - no_errors KERA HGNC ENSG00000139330 tier1 - - 89 0 0.00 70 18 20.45 KIAA0430 0 genome.wustl.edu 37 16 15714339 15714339 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 15714339 15714339 G A SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known silent c.2689 p.L897 0.998 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 tier1 - - 106 0 0.00 107 8 6.84 KIAA0825 0 genome.wustl.edu 37 5 93856381 93856381 + Missense_Mutation SNP T T G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 93856381 93856381 T G SNP KIAA0825 ENST00000427991 human ensembl 74_37 -1 known missense c.542 p.E181A 1.000 NULL NULL - no_errors KIAA0825 HGNC ENSG00000185261 tier1 - - 48 0 0.00 44 9 16.98 KIAA2026 0 genome.wustl.edu 37 9 5922121 5922121 + Missense_Mutation SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 5922121 5922121 A G SNP KIAA2026 ENST00000399933 human ensembl 74_37 -1 novel missense c.3875 p.V1292A 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 tier1 - - 50 0 0.00 68 4 5.56 KIF7 0 genome.wustl.edu 37 15 90176221 90176221 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 90176221 90176221 C G SNP KIF7 ENST00000394412 human ensembl 74_37 -1 known missense c.2725 p.E909Q 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF7 HGNC ENSG00000166813 tier1 - - 70 0 0.00 49 15 22.73 KLHL22 0 genome.wustl.edu 37 22 20825674 20825674 + Missense_Mutation SNP T T A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 22 20825674 20825674 T A SNP KLHL22 ENST00000328879 human ensembl 74_37 -1 known missense c.356 p.N119I 0.997 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL22 HGNC ENSG00000099910 tier1 - - 60 0 0.00 49 47 48.96 KNTC1 0 genome.wustl.edu 37 12 123057522 123057522 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 123057522 123057522 G T SNP KNTC1 ENST00000333479 human ensembl 74_37 +1 known missense c.2058 p.R686S 0.000 NULL pfam_RZZ-complex_KNTC1/ROD_C,superfamily_Quino_amine_DH_bsu,superfamily_WD40_repeat_dom,superfamily_PAH - no_errors KNTC1 HGNC ENSG00000184445 tier1 - - 127 0 0.00 108 12 10.00 KRT6A 0 genome.wustl.edu 37 12 52884424 52884424 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 52884424 52884424 C T SNP KRT6A ENST00000330722 human ensembl 74_37 -1 known missense c.1006 p.E336K 1.000 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6A HGNC ENSG00000205420 tier1 - - 146 0 0.00 141 11 7.24 KRT81 0 genome.wustl.edu 37 12 52681085 52681085 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 52681085 52681085 C A SNP KRT81 ENST00000327741 human ensembl 74_37 -1 known missense c.1048 p.V350L 0.952 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT81 HGNC ENSG00000205426 tier1 - - 58 0 0.00 53 11 17.19 KRTAP22-2 0 genome.wustl.edu 37 21 31962621 31962621 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 21 31962621 31962621 C T SNP KRTAP22-2 ENST00000382830 human ensembl 74_37 -1 known missense c.73 p.G25R 0.001 NULL NULL - no_errors KRTAP22-2 HGNC ENSG00000206106 tier1 - - 82 0 0.00 100 14 12.28 LAMA5 0 genome.wustl.edu 37 20 60912869 60912869 + Missense_Mutation SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 60912869 60912869 T C SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known missense c.2017 p.S673G 0.000 pfam_EGF_laminin,smart_EGF_laminin,smart_EG-like_dom,pfscan_EGF_laminin pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,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,pfscan_TNFR/NGFR_Cys_rich_reg - no_errors LAMA5 HGNC ENSG00000130702 53 0 0.00 31 3 8.82 LGALS3BP 0 genome.wustl.edu 37 17 76969204 76969204 + Nonstop_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 76969204 76969204 C G SNP LGALS3BP ENST00000586720 human ensembl 74_37 -1 known nonstop c.56 p.*19S 0.119 NULL NULL - no_errors LGALS3BP HGNC ENSG00000108679 tier1 - - 29 0 0.00 17 12 40.00 LHX4 0 genome.wustl.edu 37 1 180243439 180243439 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 180243439 180243439 C G SNP LHX4 ENST00000263726 human ensembl 74_37 +1 known missense c.898 p.Q300E 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX4 HGNC ENSG00000121454 tier1 - - 83 0 0.00 66 20 23.26 LINC00052 0 genome.wustl.edu 37 15 88121557 88121558 + RNA DEL CA CA - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 CA CA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 88121557 88121558 CA - DEL LINC00052 ENST00000560153 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors LINC00052 HGNC ENSG00000259527 tier1 52 0 0.00 56 7 11.11 LINC00087 0 genome.wustl.edu 37 X 134232496 134232496 + RNA SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 134232496 134232496 C T SNP LINC00087 ENST00000433425 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors LINC00087 HGNC ENSG00000196972 tier1 - - 151 0 0.00 138 8 5.48 LMLN 0 genome.wustl.edu 37 3 197751587 197751587 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 197751587 197751587 G T SNP LMLN ENST00000330198 human ensembl 74_37 +1 known missense c.1584 p.Q528H 1.000 pfam_Peptidase_M8 pfam_Peptidase_M8 - no_errors LMLN HGNC ENSG00000185621 tier1 - - 72 0 0.00 69 4 5.41 LOC100289580 0 genome.wustl.edu 37 16 88804229 88804229 + RNA SNP A A T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 88804229 88804229 A T SNP LOC100289580 ENST00000440406 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP5-1142A6.2 Clone_based_vega_gene ENSG00000224888 tier1 - - 60 0 0.00 50 9 15.25 LOC100506469 0 genome.wustl.edu 37 19 36035690 36035690 + RNA SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 36035690 36035690 G A SNP LOC100506469 ENST00000588286 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AD000090.2 Clone_based_vega_gene ENSG00000236144 tier1 - - 16 0 0.00 20 24 54.55 LOC101927542 0 genome.wustl.edu 37 1 83912311 83912311 + RNA SNP A A C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 83912311 83912311 A C SNP LOC101927542 ENST00000446227 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-413G15.1 Clone_based_vega_gene ENSG00000231364 29 0 0.00 43 3 6.52 LOC101929948 0 genome.wustl.edu 37 14 19563164 19563164 + RNA SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 19563164 19563164 T C SNP LOC101929948 ENST00000548748 human ensembl 74_37 -1 known rna NULL NULL 0.070 - - - no_errors CTD-2311B13.5 Clone_based_vega_gene ENSG00000258252 tier1 rs199869952 - 13 0 0.00 4 3 42.86 LOC101930611 0 genome.wustl.edu 37 9 131971147 131971147 + Splice_Site SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 131971147 131971147 G T SNP LOC101930611 ENST00000372490 human ensembl 74_37 +1 known splice_site c.NULL NULL 0.000 - - - no_errors RP11-247A12.2 Clone_based_vega_gene ENSG00000204055 tier1 - - 67 0 0.00 49 4 7.55 LOC729739 0 genome.wustl.edu 37 15 74654407 74654407 + RNA SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 74654407 74654407 C G SNP LOC729739 ENST00000562009 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors CTD-2311M21.2 Clone_based_vega_gene ENSG00000260266 tier1 - - 110 0 0.00 76 10 11.63 LRFN5 0 genome.wustl.edu 37 14 42356105 42356105 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 42356105 42356105 C G SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known missense c.277 p.H93D 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 58 0 0.00 51 13 20.31 LUZP2 0 genome.wustl.edu 37 11 24518816 24518816 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 24518816 24518816 G A SNP LUZP2 ENST00000336930 human ensembl 74_37 +1 known silent c.27 p.L9 1.000 NULL NULL - no_errors LUZP2 HGNC ENSG00000187398 tier1 - - 41 0 0.00 47 4 7.84 MAGI1 0 genome.wustl.edu 37 3 65342522 65342522 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 65342522 65342522 G T SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.3920 p.A1307E 0.004 NULL pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 - - 34 0 0.00 30 10 25.00 MAGT1 0 genome.wustl.edu 37 X 77112967 77112967 + Missense_Mutation SNP T T A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 77112967 77112967 T A SNP MAGT1 ENST00000358075 human ensembl 74_37 -1 known missense c.514 p.I172F 1.000 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 tier1 - - 106 0 0.00 63 30 32.26 MAGT1 0 genome.wustl.edu 37 X 77112972 77112974 + In_Frame_Del DEL GTT GTT - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 GTT GTT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 77112972 77112974 GTT - DEL MAGT1 ENST00000358075 human ensembl 74_37 -1 known in_frame_del c.509_507 p.T170in_frame_del 1.000:1.000:0.907 superfamily_Thioredoxin-like_fold pfam_OligosaccharylTrfase_OST3/OST6,superfamily_Thioredoxin-like_fold - no_errors MAGT1 HGNC ENSG00000102158 tier1 103 0 0.00 69 29 29.59 MAP3K14 0 genome.wustl.edu 37 17 43344462 43344465 + RNA DEL CTCA CTCA - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 CTCA CTCA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 43344462 43344465 CTCA - DEL MAP3K14 ENST00000344686 human ensembl 74_37 -1 known rna NULL NULL 1.000:1.000:1.000:0.997 - - - no_errors MAP3K14 HGNC ENSG00000006062 tier1 66 0 0.00 41 5 10.87 MAPK4 0 genome.wustl.edu 37 18 48256223 48256223 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 48256223 48256223 G A SNP MAPK4 ENST00000400384 human ensembl 74_37 +1 known silent c.1763 p.*588 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_MAPK_ERK3/4 - no_errors MAPK4 HGNC ENSG00000141639 tier1 - - 29 0 0.00 18 6 25.00 MAPKAPK2 0 genome.wustl.edu 37 1 206904645 206904646 + RNA DEL GT GT - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 GT GT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 206904645 206904646 GT - DEL MAPKAPK2 ENST00000479009 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors MAPKAPK2 HGNC ENSG00000162889 tier1 39 0 0.00 26 6 18.75 MDGA2 0 genome.wustl.edu 37 14 47504275 47504275 + Silent SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 47504275 47504275 G T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known silent c.1758 p.T586 0.999 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_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 65 0 0.00 76 15 16.48 MED1 0 genome.wustl.edu 37 17 37604113 37604113 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 37604113 37604113 G T SNP MED1 ENST00000300651 human ensembl 74_37 -1 known missense c.70 p.H24N 1.000 NULL pfam_Mediator_Med1_met/fun - no_errors MED1 HGNC ENSG00000125686 58 0 0.00 54 3 5.26 MED14 0 genome.wustl.edu 37 X 40588606 40588606 + RNA DEL A A - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 40588606 40588606 A - DEL MED14 ENST00000463072 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MED14 HGNC ENSG00000180182 tier1 24 0 0.00 20 3 13.04 MEGF8 0 genome.wustl.edu 37 19 42838298 42838298 + Frame_Shift_Del DEL G G - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 42838298 42838298 G - DEL MEGF8 ENST00000251268 human ensembl 74_37 +1 known frame_shift_del c.491 p.G166fs 1.000 smart_EG-like_dom pfam_CUB_dom,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_CUB_dom,smart_EG-like_dom,smart_Plexin-like_fold,smart_EGF-like_Ca-bd_dom,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 tier1 51 0 0.00 42 4 8.70 MFAP3 0 genome.wustl.edu 37 5 153432773 153432773 + Nonsense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 153432773 153432773 C T SNP MFAP3 ENST00000322602 human ensembl 74_37 +1 known nonsense c.589 p.Q197* 1.000 NULL pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors MFAP3 HGNC ENSG00000037749 55 0 0.00 52 3 5.45 MGA 0 genome.wustl.edu 37 15 42057139 42057139 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 42057139 42057139 G A SNP MGA ENST00000219905 human ensembl 74_37 +1 known silent c.7800 p.P2600 0.609 NULL pfam_TF_T-box,pfam_bHLH_dom,superfamily_p53-like_TF_DNA-bd,superfamily_bHLH_dom,smart_TF_T-box,smart_bHLH_dom,pfscan_bHLH_dom,pfscan_TF_T-box,prints_TF_T-box - no_errors MGA HGNC ENSG00000174197 tier1 - - 61 0 0.00 51 28 35.44 MGAM 0 genome.wustl.edu 37 7 141796214 141796214 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 141796214 141796214 G A SNP MGAM ENST00000549489 human ensembl 74_37 +1 known missense c.5003 p.R1668H 0.000 pfam_Glyco_hydro_31 pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Gal_mutarotase_SF_dom,smart_P_trefoil - no_errors MGAM HGNC ENSG00000257335 tier1 - - 94 0 0.00 97 6 5.83 MLLT3 0 genome.wustl.edu 37 9 20414280 20414280 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 20414280 20414280 G A SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known silent c.564 p.S188 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 53 0 0.00 38 2 5.00 MLXIP 0 genome.wustl.edu 37 12 122618301 122618301 + Frame_Shift_Del DEL C C - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 122618301 122618301 C - DEL MLXIP ENST00000319080 human ensembl 74_37 +1 known frame_shift_del c.1499 p.F501fs 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIP HGNC ENSG00000175727 tier1 89 0 0.00 93 13 12.26 MLXIPL 0 genome.wustl.edu 37 7 73030405 73030405 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 73030405 73030405 G A SNP MLXIPL ENST00000313375 human ensembl 74_37 -1 known silent c.396 p.I132 0.998 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors MLXIPL HGNC ENSG00000009950 tier1 - - 82 0 0.00 57 12 17.39 MMP24 0 genome.wustl.edu 37 20 33851658 33851658 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 33851658 33851658 C T SNP MMP24 ENST00000246186 human ensembl 74_37 +1 known silent c.882 p.S294 0.996 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP24 HGNC ENSG00000125966 tier1 - - 61 0 0.00 66 7 9.59 MNAT1 0 genome.wustl.edu 37 14 61278748 61278748 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 61278748 61278748 G A SNP MNAT1 ENST00000261245 human ensembl 74_37 +1 known missense c.464 p.R155Q 0.998 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,pfscan_Ubiquitin-int_motif,tigrfam_MAT1/Tfb3 pirsf_MAT1/Tfb3,pfam_Cdk-activating_kinase_MAT1_cen,smart_Znf_RING,pfscan_Ubiquitin-int_motif,pfscan_Znf_RING,tigrfam_MAT1/Tfb3 - no_errors MNAT1 HGNC ENSG00000020426 tier1 - - 69 0 0.00 100 7 6.54 MOK 0 genome.wustl.edu 37 14 102695441 102695441 + RNA SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 102695441 102695441 C G SNP MOK ENST00000520266 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors MOK HGNC ENSG00000080823 tier1 - - 154 0 0.00 164 16 8.89 MOSPD2 0 genome.wustl.edu 37 X 14929398 14929398 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 14929398 14929398 G T SNP MOSPD2 ENST00000380492 human ensembl 74_37 +1 known missense c.742 p.D248Y 1.000 superfamily_CRAL-TRIO_dom pfam_CRAL-TRIO_dom,pfam_MSP_dom,superfamily_CRAL-TRIO_dom,superfamily_PapD-like,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_MSP_dom - no_errors MOSPD2 HGNC ENSG00000130150 tier1 - - 68 0 0.00 76 4 5.00 MRE11A 0 genome.wustl.edu 37 11 94153333 94153335 + In_Frame_Del DEL ATC ATC - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 ATC ATC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 94153333 94153335 ATC - DEL MRE11A ENST00000323929 human ensembl 74_37 -1 known in_frame_del c.2085_2083 p.D695in_frame_del 0.990:1.000:1.000 pirsf_DNA_repair_Mre11 pfam_Mre11_DNA-bd,pfam_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11 - no_errors MRE11A HGNC ENSG00000020922 tier1 29 0 0.00 35 2 5.41 MTIF2 0 genome.wustl.edu 37 2 55489519 55489519 + Silent SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 55489519 55489519 T C SNP MTIF2 ENST00000263629 human ensembl 74_37 -1 known silent c.264 p.K88 0.999 NULL pfam_EF_GTP-bd_dom,pfam_TIF_IF2_dom3,pfam_Transl_elong_EFTu/EF1A_2,pfam_MIRO-like,pfam_GTP_binding_domain,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,superfamily_P-loop_NTPase,superfamily_TIF_IF2_dom3,superfamily_Transl_B-barrel,tigrfam_Small_GTP-bd_dom - no_errors MTIF2 HGNC ENSG00000085760 tier1 - - 70 0 0.00 85 12 12.37 MTR 0 genome.wustl.edu 37 1 237052504 237052504 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 237052504 237052504 C G SNP MTR ENST00000366577 human ensembl 74_37 +1 known missense c.2875 p.Q959E 0.155 superfamily_VitB12-dep_Met_synth_activ_dom,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,tigrfam_MetH pfam_S_MeTrfase,pfam_VitB12-dep_Met_synth_activ_dom,pfam_Pterin-binding,pfam_Cbl-bd_cap,pfam_Cobalamin-bd,superfamily_VitB12-dep_Met_synth_activ_dom,superfamily_S_MeTrfase,superfamily_Dihydropteroate_synth-like,superfamily_Cobalamin-bd,superfamily_Cbl-bd_cap,pirsf_MetH,pfscan_VitB12-dep_Met_synth_activ_dom,pfscan_S_MeTrfase,pfscan_Pterin-binding,tigrfam_MetH - no_errors MTR HGNC ENSG00000116984 tier1 - - 151 0 0.00 134 30 18.29 MYH6 0 genome.wustl.edu 37 14 23876283 23876283 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 23876283 23876283 C G SNP MYH6 ENST00000356287 human ensembl 74_37 -1 known missense c.150 p.K50N 0.989 pfam_Myosin_N pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 tier1 - - 62 0 0.00 64 13 16.88 MYH7B 0 genome.wustl.edu 37 20 33581979 33581979 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 33581979 33581979 C G SNP MYH7B ENST00000262873 human ensembl 74_37 +1 novel missense c.2601 p.I867M 1.000 superfamily_P-loop_NTPase pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Myosin_S1_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,superfamily_t-SNARE,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7B HGNC ENSG00000078814 tier1 - - 46 0 0.00 54 4 6.90 MYO1A 0 genome.wustl.edu 37 12 57423252 57423252 + Silent SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 57423252 57423252 G C SNP MYO1A ENST00000300119 human ensembl 74_37 -1 known silent c.2844 p.L948 0.318 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYO1A HGNC ENSG00000166866 tier1 - - 71 0 0.00 44 13 22.81 MYO3A 0 genome.wustl.edu 37 10 26482174 26482174 + Silent SNP A A C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 26482174 26482174 A C SNP MYO3A ENST00000265944 human ensembl 74_37 +1 known silent c.4479 p.P1493 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_dom,prints_Myosin_head_motor_dom - no_errors MYO3A HGNC ENSG00000095777 tier1 - - 144 0 0.00 127 8 5.93 NAT9 0 genome.wustl.edu 37 17 72769777 72769777 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 72769777 72769777 G T SNP NAT9 ENST00000357814 human ensembl 74_37 -1 known nonsense c.128 p.S43* 1.000 superfamily_Acyl_CoA_acyltransferase pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 tier1 - - 67 0 0.00 45 4 8.16 NBEA 0 genome.wustl.edu 37 13 35734011 35734011 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 13 35734011 35734011 G T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.3703 p.A1235S 0.990 NULL pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 - - 72 0 0.00 62 4 6.06 NCOR2 0 genome.wustl.edu 37 12 124887058 124887058 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 124887058 124887058 G T SNP NCOR2 ENST00000356219 human ensembl 74_37 -1 known missense c.1532 p.P511H 0.999 NULL pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors NCOR2 HGNC ENSG00000196498 38 0 0.00 34 2 5.56 NEK11 0 genome.wustl.edu 37 3 130889714 130889714 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 130889714 130889714 C G SNP NEK11 ENST00000383366 human ensembl 74_37 +1 known missense c.1382 p.S461C 0.002 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 NEK11 HGNC ENSG00000114670 tier1 - - 117 0 0.00 95 11 10.28 NELL2 0 genome.wustl.edu 37 12 44913936 44913936 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 44913936 44913936 C T SNP NELL2 ENST00000437801 human ensembl 74_37 -1 known missense c.2402 p.C801Y 1.000 pfam_VWF_C,smart_VWC_out,smart_VWF_C,pfscan_VWF_C pfam_EGF-like_Ca-bd_dom,pfam_VWF_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_VWC_out,smart_VWF_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_C - no_errors NELL2 HGNC ENSG00000184613 tier1 - - 76 0 0.00 61 4 6.15 NEXN 0 genome.wustl.edu 37 1 78408248 78408248 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 78408248 78408248 C A SNP NEXN ENST00000334785 human ensembl 74_37 +1 known missense c.1762 p.L588I 0.985 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors NEXN HGNC ENSG00000162614 tier1 - - 79 0 0.00 104 11 9.57 NHSL1 0 genome.wustl.edu 37 6 138751558 138751558 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 138751558 138751558 C T SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known silent c.3936 p.E1312 0.030 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 tier1 - - 78 0 0.00 57 12 17.39 NHSL1 0 genome.wustl.edu 37 6 138751653 138751653 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 138751653 138751653 C T SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known missense c.3841 p.E1281K 0.996 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 tier1 - - 43 0 0.00 31 14 31.11 NHSL1 0 genome.wustl.edu 37 6 138754450 138754450 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 138754450 138754450 G A SNP NHSL1 ENST00000427025 human ensembl 74_37 -1 known silent c.1044 p.L348 0.001 NULL NULL - no_errors NHSL1 HGNC ENSG00000135540 tier1 - - 59 0 0.00 31 9 22.50 NLN 0 genome.wustl.edu 37 5 65088483 65088483 + Splice_Site SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 65088483 65088483 G A SNP NLN ENST00000380985 human ensembl 74_37 +1 known splice_site c.1527+1 e9+1 1.000 - - - no_errors NLN HGNC ENSG00000123213 73 0 0.00 46 4 8.00 NOC4L 0 genome.wustl.edu 37 12 132636906 132636906 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 132636906 132636906 G T SNP NOC4L ENST00000330579 human ensembl 74_37 +1 known missense c.1511 p.R504L 0.004 NULL pfam_CCAAT-binding_factor,superfamily_ARM-type_fold - no_errors NOC4L HGNC ENSG00000184967 tier1 - - 163 0 0.00 120 12 9.02 NOP2 0 genome.wustl.edu 37 12 6669279 6669279 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 6669279 6669279 G A SNP NOP2 ENST00000322166 human ensembl 74_37 -1 known missense c.1774 p.P592S 1.000 NULL pfam_Fmu/NOL1/Nop2p,pfam_P120R,pfam_rRNA_MeTrfase_FtsJ_dom,prints_RCMT,prints_RCMT_NOP2,tigrfam_Nop2p - no_errors NOP2 HGNC ENSG00000111641 tier1 - - 114 0 0.00 108 9 7.63 NOTCH3 0 genome.wustl.edu 37 19 15288489 15288489 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 15288489 15288489 C G SNP NOTCH3 ENST00000263388 human ensembl 74_37 -1 known missense c.4250 p.C1417S 1.000 pirsf_Notch,pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,prints_Notch_dom,pfscan_Notch_dom pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_3,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 30 0 0.00 17 3 14.29 NRCAM 0 genome.wustl.edu 37 7 107789577 107789577 + RNA SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 107789577 107789577 G A SNP NRCAM ENST00000522550 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors NRCAM HGNC ENSG00000091129 tier1 - - 64 0 0.00 94 5 5.05 NTM 0 genome.wustl.edu 37 11 132016295 132016295 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 132016295 132016295 C T SNP NTM ENST00000539799 human ensembl 74_37 +1 known missense c.287 p.T96M 1.000 pfam_Ig_I-set,pfam_Ig_V-set,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 NTM HGNC ENSG00000182667 tier1 - - 68 0 0.00 59 21 26.25 ODF2 0 genome.wustl.edu 37 9 131235307 131235307 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 131235307 131235307 G A SNP ODF2 ENST00000434106 human ensembl 74_37 +1 known missense c.697 p.G233R 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 tier1 - - 68 0 0.00 60 7 10.45 OPN1LW 0 genome.wustl.edu 37 X 153420169 153420169 + Silent SNP T T G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 153420169 153420169 T G SNP OPN1LW ENST00000369951 human ensembl 74_37 +1 known silent c.699 p.A233 0.991 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_Opsin_red/grn,prints_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1LW HGNC ENSG00000102076 tier1 - - 60 0 0.00 49 29 37.18 OR10A6 0 genome.wustl.edu 37 11 7949268 7949268 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 7949268 7949268 G C SNP OR10A6 ENST00000309838 human ensembl 74_37 -1 known missense c.942 p.I314M 0.047 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10A6 HGNC ENSG00000175393 tier1 - - 63 0 0.00 48 15 23.81 OR1C1 0 genome.wustl.edu 37 1 247921358 247921358 + Silent SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 247921358 247921358 C G SNP OR1C1 ENST00000408896 human ensembl 74_37 -1 known silent c.351 p.V117 0.998 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 OR1C1 HGNC ENSG00000221888 tier1 - - 54 0 0.00 61 6 8.96 OR2M2 0 genome.wustl.edu 37 1 248344136 248344136 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 248344136 248344136 C T SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known silent c.849 p.P283 0.030 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 OR2M2 HGNC ENSG00000198601 tier1 - - 107 0 0.00 122 10 7.58 OR8I2 0 genome.wustl.edu 37 11 55861330 55861330 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 55861330 55861330 C G SNP OR8I2 ENST00000302124 human ensembl 74_37 +1 known missense c.547 p.L183V 0.014 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 OR8I2 HGNC ENSG00000172154 tier1 - - 23 0 0.00 30 14 31.82 P2RY10 0 genome.wustl.edu 37 X 78216383 78216383 + Nonsense_Mutation SNP T T A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 78216383 78216383 T A SNP P2RY10 ENST00000171757 human ensembl 74_37 +1 known nonsense c.366 p.C122* 0.148 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors P2RY10 HGNC ENSG00000078589 tier1 - - 20 0 0.00 19 4 17.39 PBRM1 0 genome.wustl.edu 37 3 52597511 52597511 + Splice_Site SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 52597511 52597511 T C SNP PBRM1 ENST00000296302 human ensembl 74_37 -1 known splice_site c.3876-2 e24-2 1.000 - - - no_errors PBRM1 HGNC ENSG00000163939 33 0 0.00 32 2 5.88 PCM1 0 genome.wustl.edu 37 8 17813047 17813047 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 17813047 17813047 G C SNP PCM1 ENST00000325083 human ensembl 74_37 +1 known missense c.1357 p.V453L 0.421 NULL NULL - no_errors PCM1 HGNC ENSG00000078674 tier1 - - 88 0 0.00 101 27 21.09 PDE9A 0 genome.wustl.edu 37 21 44153470 44153470 + Missense_Mutation SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 21 44153470 44153470 T C SNP PDE9A ENST00000291539 human ensembl 74_37 +1 known missense c.502 p.F168L 0.978 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE9A HGNC ENSG00000160191 tier1 - - 126 0 0.00 103 25 19.53 PFDN1 0 genome.wustl.edu 37 5 139682640 139682640 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 139682640 139682640 G C SNP PFDN1 ENST00000261813 human ensembl 74_37 -1 known missense c.19 p.L7V 1.000 NULL pfam_PFD_beta-like,superfamily_Prefoldin - no_errors PFDN1 HGNC ENSG00000113068 tier1 - - 105 0 0.00 82 24 22.64 PGM1 0 genome.wustl.edu 37 1 64089294 64089294 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 64089294 64089294 G C SNP PGM1 ENST00000371083 human ensembl 74_37 +1 known missense c.163 p.E55Q 1.000 pfam_A-D-PHexomutase_a/b/a-I,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 tier1 - - 75 0 0.00 69 8 10.39 PHF16 0 genome.wustl.edu 37 X 46915568 46915568 + Nonsense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 46915568 46915568 C T SNP PHF16 ENST00000218343 human ensembl 74_37 +1 known nonsense c.1528 p.Q510* 1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors PHF16 HGNC ENSG00000102221 tier1 - - 75 0 0.00 67 4 5.63 PI4KA 0 genome.wustl.edu 37 22 21174836 21174836 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 22 21174836 21174836 G C SNP PI4KA ENST00000255882 human ensembl 74_37 -1 known missense c.520 p.Q174E 1.000 superfamily_ARM-type_fold pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PI4KA HGNC ENSG00000241973 tier1 - - 69 0 0.00 120 16 11.76 PIGN 0 genome.wustl.edu 37 18 59749943 59749943 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 59749943 59749943 C G SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.2539 p.E847Q 1.000 pfam_GPI_EtnP_transferase_1_C pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 tier1 - - 62 0 0.00 35 7 16.67 PIWIL1 0 genome.wustl.edu 37 12 130847365 130847365 + Silent SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 130847365 130847365 C G SNP PIWIL1 ENST00000245255 human ensembl 74_37 +1 known silent c.2025 p.L675 0.996 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 tier1 - - 84 0 0.00 71 4 5.33 PLA2G4F 0 genome.wustl.edu 37 15 42444892 42444892 + Nonsense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 42444892 42444892 C A SNP PLA2G4F ENST00000397272 human ensembl 74_37 -1 known nonsense c.595 p.E199* 0.010 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4F HGNC ENSG00000168907 tier1 - - 72 0 0.00 66 9 12.00 PLSCR1 0 genome.wustl.edu 37 3 146251305 146251305 + Missense_Mutation SNP T T G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 146251305 146251305 T G SNP PLSCR1 ENST00000342435 human ensembl 74_37 -1 known missense c.46 p.N16H 0.000 NULL pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR1 HGNC ENSG00000188313 tier1 - - 63 0 0.00 77 10 11.49 PLXNB1 0 genome.wustl.edu 37 3 48455320 48455320 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 48455320 48455320 G C SNP PLXNB1 ENST00000296440 human ensembl 74_37 -1 known missense c.4370 p.S1457C 0.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT,pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNB1 HGNC ENSG00000164050 67 0 0.00 57 3 5.00 POM121 0 genome.wustl.edu 37 7 72413681 72413681 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 72413681 72413681 C T SNP POM121 ENST00000434423 human ensembl 74_37 +1 known missense c.3149 p.P1050L 0.266 NULL NULL - no_errors POM121 HGNC ENSG00000196313 tier1 - - 172 0 0.00 154 9 5.52 POTEC 0 genome.wustl.edu 37 18 14538222 14538222 + Missense_Mutation SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 14538222 14538222 T C SNP POTEC ENST00000358970 human ensembl 74_37 -1 known missense c.548 p.N183S 0.980 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEC HGNC ENSG00000183206 tier1 - - 52 0 0.00 34 13 27.66 PPFIA1 0 genome.wustl.edu 37 11 70218320 70218320 + Splice_Site SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 70218320 70218320 G C SNP PPFIA1 ENST00000253925 human ensembl 74_37 +1 known splice_site c.2866-1 e21-1 1.000 - - - no_errors PPFIA1 HGNC ENSG00000131626 tier1 - - 66 0 0.00 84 13 13.40 PPP1R18 0 genome.wustl.edu 37 6 30652519 30652519 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 30652519 30652519 G T SNP PPP1R18 ENST00000274853 human ensembl 74_37 -1 known missense c.1277 p.P426Q 1.000 NULL NULL - no_errors PPP1R18 HGNC ENSG00000146112 tier1 - - 18 0 0.00 12 4 25.00 PPP1R21 0 genome.wustl.edu 37 2 48698298 48698298 + Missense_Mutation SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 48698298 48698298 A G SNP PPP1R21 ENST00000294952 human ensembl 74_37 +1 known missense c.970 p.S324G 1.000 pfam_KLRAQ/TTKRSYEDQ_C pfam_KLRAQ/TTKRSYEDQ_C,pfam_Unchr_KLRAQ/TTKRSYEDQ_N,superfamily_Ferritin-like_SF - no_errors PPP1R21 HGNC ENSG00000162869 tier1 - - 93 0 0.00 88 11 11.11 PRKDC 0 genome.wustl.edu 37 8 48827892 48827892 + Silent SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 48827892 48827892 C G SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known silent c.2613 p.L871 0.308 NULL 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 - - 73 0 0.00 72 4 5.26 PROX1 0 genome.wustl.edu 37 1 214169993 214169993 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 214169993 214169993 G A SNP PROX1 ENST00000261454 human ensembl 74_37 +1 known missense c.115 p.A39T 1.000 NULL pfam_Homeo_prospero_dom,superfamily_Homeodomain-like - no_errors PROX1 HGNC ENSG00000117707 tier1 - - 79 0 0.00 69 10 12.66 PRPH 0 genome.wustl.edu 37 12 49691473 49691473 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 49691473 49691473 G A SNP PRPH ENST00000257860 human ensembl 74_37 +1 known missense c.1231 p.V411I 0.138 NULL pfam_IF,pfam_Intermed_filament_DNA-bd,prints_Keratin_I - no_errors PRPH HGNC ENSG00000135406 17 0 0.00 28 2 6.67 PSD4 0 genome.wustl.edu 37 2 113943093 113943093 + RNA SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 113943093 113943093 C T SNP PSD4 ENST00000485525 human ensembl 74_37 +1 known rna NULL NULL 0.010 - - - no_errors PSD4 HGNC ENSG00000125637 tier1 - - 16 0 0.00 12 7 36.84 PSKH2 0 genome.wustl.edu 37 8 87076243 87076243 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 87076243 87076243 G C SNP PSKH2 ENST00000276616 human ensembl 74_37 -1 known missense c.803 p.T268R 0.742 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 PSKH2 HGNC ENSG00000147613 tier1 - - 82 0 0.00 92 7 7.07 PTPN13 0 genome.wustl.edu 37 4 87684273 87684273 + Nonsense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 4 87684273 87684273 C G SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known nonsense c.3947 p.S1316* 0.919 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 38 0 0.00 41 6 12.77 PTPRF 0 genome.wustl.edu 37 1 44088769 44088769 + RNA SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 44088769 44088769 G T SNP PTPRF ENST00000496447 human ensembl 74_37 +1 known rna NULL NULL 0.104 - - - no_errors PTPRF HGNC ENSG00000142949 tier1 - - 40 0 0.00 35 4 10.26 PTPRZ1 0 genome.wustl.edu 37 7 121513447 121513447 + RNA SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 121513447 121513447 G A SNP PTPRZ1 ENST00000471837 human ensembl 74_37 +1 known rna NULL NULL 0.011 - - - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 44 0 0.00 35 4 10.26 RAB11FIP1 0 genome.wustl.edu 37 8 37732209 37732209 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 37732209 37732209 G T SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.1446 p.D482E 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 tier1 - - 69 0 0.00 77 9 10.47 RAB15 0 genome.wustl.edu 37 14 65438753 65438753 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 65438753 65438753 G A SNP RAB15 ENST00000533601 human ensembl 74_37 -1 known silent c.42 p.I14 1.000 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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom 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,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB15 HGNC ENSG00000139998 tier1 - - 112 0 0.00 130 8 5.80 RAD51AP2 0 genome.wustl.edu 37 2 17699568 17699568 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 17699568 17699568 C T SNP RAD51AP2 ENST00000399080 human ensembl 74_37 -1 known missense c.115 p.E39K 0.061 NULL NULL - no_errors RAD51AP2 HGNC ENSG00000214842 75 0 0.00 77 5 6.10 RALGAPA1 0 genome.wustl.edu 37 14 36277997 36277997 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 36277997 36277997 C G SNP RALGAPA1 ENST00000258840 human ensembl 74_37 -1 known missense c.45 p.Q15H 1.000 NULL pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom - no_errors RALGAPA1 HGNC ENSG00000174373 tier1 - - 92 0 0.00 58 17 22.67 RB1 0 genome.wustl.edu 37 13 48878083 48878085 + In_Frame_Del DEL CCG CCG - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 CCG CCG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 13 48878083 48878085 CCG 0 DEL RB1 ENST00000267163 human ensembl 74_37 +1 known in_frame_del c.35_37 p.A16in_frame_del 0.009:0.012:0.032 NULL pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 10 0 0.00 4 2 33.33 RBM11 0 genome.wustl.edu 37 21 15588451 15588451 + RNA SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 21 15588451 15588451 A G SNP RBM11 ENST00000468643 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RBM11 HGNC ENSG00000185272 tier1 - - 80 0 0.00 54 12 18.18 RBMX 0 genome.wustl.edu 37 X 135956028 135956028 + RNA DEL G G - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 X 135956028 135956028 G - DEL RBMX ENST00000496459 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RBMX HGNC ENSG00000147274 tier1 18 0 0.00 24 5 17.24 RELN 0 genome.wustl.edu 37 7 103155684 103155684 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 103155684 103155684 G A SNP RELN ENST00000424685 human ensembl 74_37 -1 known silent c.8067 p.A2689 0.008 superfamily_Sialidases pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom - no_errors RELN HGNC ENSG00000189056 tier1 - - 54 0 0.00 78 13 14.13 RIMS2 0 genome.wustl.edu 37 8 105260958 105260958 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 105260958 105260958 C G SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.3506 p.S1169C 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 65 0 0.00 79 15 15.96 RNF167 0 genome.wustl.edu 37 17 4846563 4846563 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 4846563 4846563 C T SNP RNF167 ENST00000262482 human ensembl 74_37 +1 known missense c.560 p.A187V 1.000 NULL pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF167 HGNC ENSG00000108523 tier1 - - 86 0 0.00 74 4 5.13 RPF2 0 genome.wustl.edu 37 6 111346663 111346663 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 111346663 111346663 C A SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known missense c.799 p.H267N 1.000 NULL pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 tier1 - - 50 0 0.00 61 4 6.15 RPL3 0 genome.wustl.edu 37 22 39714546 39714546 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 22 39714546 39714546 G C SNP RPL3 ENST00000216146 human ensembl 74_37 -1 known missense c.55 p.R19G 1.000 superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3 HGNC ENSG00000100316 tier1 - - 116 0 0.00 137 9 6.16 RTN1 0 genome.wustl.edu 37 14 60069967 60069967 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 60069967 60069967 G A SNP RTN1 ENST00000267484 human ensembl 74_37 -1 known missense c.2192 p.S731L 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN1 HGNC ENSG00000139970 tier1 - - 67 0 0.00 106 11 9.40 RYR3 0 genome.wustl.edu 37 15 34064135 34064135 + Nonsense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 34064135 34064135 C G SNP RYR3 ENST00000389232 human ensembl 74_37 +1 known nonsense c.8831 p.S2944* 1.000 superfamily_ARM-type_fold pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 tier1 - - 70 0 0.00 70 9 11.39 SAT2 0 genome.wustl.edu 37 17 7531071 7531071 + RNA DEL G G - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 7531071 7531071 G - DEL SAT2 ENST00000380466 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SAT2 HGNC ENSG00000141504 tier1 45 0 0.00 40 4 9.09 SCUBE2 0 genome.wustl.edu 37 11 9068959 9068959 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 9068959 9068959 G C SNP SCUBE2 ENST00000457346 human ensembl 74_37 -1 known missense c.1946 p.S649C 0.151 NULL pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors SCUBE2 HGNC ENSG00000175356 tier1 - - 70 0 0.00 59 14 19.18 SEC16A 0 genome.wustl.edu 37 9 139342717 139342717 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 139342717 139342717 G A SNP SEC16A ENST00000313084 human ensembl 74_37 -1 known silent c.315 p.L105 0.000 NULL NULL - no_errors SEC16A HGNC ENSG00000148396 tier1 - - 94 0 0.00 66 16 19.51 SEC23IP 0 genome.wustl.edu 37 10 121685688 121685688 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 121685688 121685688 C T SNP SEC23IP ENST00000369075 human ensembl 74_37 +1 known silent c.2262 p.C754 0.000 NULL pfam_DDHD,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_DDHD - no_errors SEC23IP HGNC ENSG00000107651 tier1 - - 77 0 0.00 113 13 10.32 SEH1L 0 genome.wustl.edu 37 18 12987007 12987007 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 12987007 12987007 G T SNP SEH1L ENST00000399892 human ensembl 74_37 +1 known missense c.1217 p.R406L 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors SEH1L HGNC ENSG00000085415 tier1 - - 50 0 0.00 42 4 8.70 SESN3 0 genome.wustl.edu 37 11 94906420 94906420 + Nonstop_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 94906420 94906420 C A SNP SESN3 ENST00000536441 human ensembl 74_37 -1 known nonstop c.1478 p.*493L 1.000 NULL pfam_PA26 - no_errors SESN3 HGNC ENSG00000149212 tier1 - - 49 0 0.00 43 6 12.24 SETD4 0 genome.wustl.edu 37 21 37410456 37410456 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 21 37410456 37410456 G T SNP SETD4 ENST00000332131 human ensembl 74_37 -1 known missense c.1180 p.L394I 0.996 pfam_Rubisco_LSMT_subst-bd,pirsf_Lys_MTase_YDR198C_prd pfam_Rubisco_LSMT_subst-bd,pfam_SET_dom,pirsf_Lys_MTase_YDR198C_prd - no_errors SETD4 HGNC ENSG00000185917 tier1 - - 85 0 0.00 112 6 5.08 SFI1 0 genome.wustl.edu 37 22 32009828 32009828 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 22 32009828 32009828 C A SNP SFI1 ENST00000400288 human ensembl 74_37 +1 known missense c.2983 p.H995N 0.007 NULL superfamily_Cyclin-like - no_errors SFI1 HGNC ENSG00000198089 tier1 - - 116 0 0.00 78 10 11.36 SLC4A9 0 genome.wustl.edu 37 5 139743751 139743751 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 139743751 139743751 G A SNP SLC4A9 ENST00000230993 human ensembl 74_37 +1 known missense c.1439 p.R480H 1.000 pfam_HCO3_transpt_C,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A9 HGNC ENSG00000113073 tier1 - - 78 0 0.00 59 16 21.33 SLC6A20 0 genome.wustl.edu 37 3 45837804 45837804 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 45837804 45837804 C G SNP SLC6A20 ENST00000358525 human ensembl 74_37 -1 known missense c.108 p.Q36H 1.000 pfam_Na/ntran_symport,pfscan_Na/ntran_symport pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_orphan - no_errors SLC6A20 HGNC ENSG00000163817 tier1 - - 58 0 0.00 49 8 14.04 SLIT3 0 genome.wustl.edu 37 5 168119628 168119628 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 168119628 168119628 G T SNP SLIT3 ENST00000519560 human ensembl 74_37 -1 known missense c.3160 p.L1054M 0.998 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors SLIT3 HGNC ENSG00000184347 61 0 0.00 68 4 5.56 SMARCA2 0 genome.wustl.edu 37 9 2161902 2161902 + Missense_Mutation SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 2161902 2161902 A G SNP SMARCA2 ENST00000349721 human ensembl 74_37 +1 known missense c.4198 p.R1400G 1.000 superfamily_Bromodomain,smart_Bromodomain pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 - - 61 0 0.00 47 12 20.34 SMG5 0 genome.wustl.edu 37 1 156231134 156231134 + Silent SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 156231134 156231134 G T SNP SMG5 ENST00000361813 human ensembl 74_37 -1 known silent c.2097 p.L699 0.978 NULL pfam_EST1,smart_PIN_dom - no_errors SMG5 HGNC ENSG00000198952 76 0 0.00 76 4 5.00 SPPL3 0 genome.wustl.edu 37 12 121205249 121205249 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 121205249 121205249 C T SNP SPPL3 ENST00000353487 human ensembl 74_37 -1 known silent c.921 p.G307 0.655 pfam_Peptidase_A22B_SPP,smart_Preselin/SPP pfam_Peptidase_A22B_SPP,smart_Preselin/SPP - no_errors SPPL3 HGNC ENSG00000157837 tier1 - - 139 0 0.00 96 8 7.69 SSPO 0 genome.wustl.edu 37 7 149477372 149477372 + RNA SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 7 149477372 149477372 C T SNP SSPO ENST00000262089 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SSPO HGNC ENSG00000197558 tier1 - - 52 0 0.00 41 8 16.33 SSSCA1 0 genome.wustl.edu 37 11 65338969 65338969 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 65338969 65338969 C G SNP SSSCA1 ENST00000309328 human ensembl 74_37 +1 known missense c.364 p.P122A 0.995 NULL pfam_SSSCA1 - no_errors SSSCA1 HGNC ENSG00000173465 tier1 - - 49 0 0.00 29 15 34.09 SSSCA1 0 genome.wustl.edu 37 11 65339076 65339076 + Silent SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 65339076 65339076 C G SNP SSSCA1 ENST00000309328 human ensembl 74_37 +1 known silent c.471 p.L157 0.977 NULL pfam_SSSCA1 - no_errors SSSCA1 HGNC ENSG00000173465 tier1 - - 77 0 0.00 41 12 22.64 STK11 0 genome.wustl.edu 37 19 1226530 1226530 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 1226530 1226530 G T SNP STK11 ENST00000326873 human ensembl 74_37 +1 known nonsense c.1186 p.E396* 0.749 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 - no_errors STK11 HGNC ENSG00000118046 tier1 - - 70 0 0.00 68 6 8.11 STX16-NPEPL1 0 genome.wustl.edu 37 20 57242559 57242559 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 57242559 57242559 G A SNP STX16-NPEPL1 ENST00000530122 human ensembl 74_37 +1 known missense c.158 p.R53H 1.000 NULL pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX16-NPEPL1 HGNC ENSG00000254995 tier1 - - 36 0 0.00 30 4 11.76 SUSD2 0 genome.wustl.edu 37 22 24583631 24583631 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 22 24583631 24583631 G C SNP SUSD2 ENST00000358321 human ensembl 74_37 +1 known missense c.1984 p.E662Q 0.305 NULL pfam_AMOP,pfam_VWF_type-D,pfam_Sushi_SCR_CCP,pfam_Somatomedin_B_dom,superfamily_Sushi_SCR_CCP,superfamily_Ig_E-set,smart_AMOP,smart_VWF_type-D,smart_Sushi_SCR_CCP,pfscan_AMOP,pfscan_Somatomedin_B_dom,pfscan_Sushi_SCR_CCP - no_errors SUSD2 HGNC ENSG00000099994 tier1 - - 49 0 0.00 29 11 27.50 SWAP70 0 genome.wustl.edu 37 11 9759811 9759811 + Nonsense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 9759811 9759811 C T SNP SWAP70 ENST00000318950 human ensembl 74_37 +1 known nonsense c.1132 p.Q378* 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_EF_hand_dom,pfscan_Pleckstrin_homology - no_errors SWAP70 HGNC ENSG00000133789 tier1 - - 38 0 0.00 20 8 28.57 SYDE2 0 genome.wustl.edu 37 1 85624705 85624705 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 85624705 85624705 C G SNP SYDE2 ENST00000341460 human ensembl 74_37 -1 known missense c.3313 p.E1105Q 0.998 NULL pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_C2_dom,smart_RhoGAP_dom,pfscan_RhoGAP_dom - no_errors SYDE2 HGNC ENSG00000097096 tier1 - - 64 0 0.00 77 19 19.79 TADA2B 0 genome.wustl.edu 37 4 7056573 7056573 + Nonsense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 4 7056573 7056573 C G SNP TADA2B ENST00000310074 human ensembl 74_37 +1 known nonsense c.1055 p.S352* 1.000 superfamily_Homeodomain-like,pirsf_Transcriptional_adaptor_2 pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom - no_errors TADA2B HGNC ENSG00000173011 tier1 - - 73 0 0.00 61 5 7.58 TAPSAR1 0 genome.wustl.edu 37 6 32813308 32813308 + RNA SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 32813308 32813308 G T SNP TAPSAR1 ENST00000412095 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors TAPSAR1 HGNC ENSG00000204261 tier1 - - 61 0 0.00 72 4 5.26 TAS1R1 0 genome.wustl.edu 37 1 6634734 6634734 + Missense_Mutation SNP A A T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 6634734 6634734 A T SNP TAS1R1 ENST00000333172 human ensembl 74_37 +1 known missense c.542 p.Q181L 0.015 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,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 TAS1R1 HGNC ENSG00000173662 tier1 - - 60 0 0.00 63 4 5.97 TEFM 0 genome.wustl.edu 37 17 29231387 29231387 + Silent SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 29231387 29231387 G C SNP TEFM ENST00000581216 human ensembl 74_37 -1 known silent c.192 p.L64 0.984 NULL superfamily_RNaseH-like_dom - no_errors TEFM HGNC ENSG00000172171 tier1 - - 57 0 0.00 59 5 7.81 TEK 0 genome.wustl.edu 37 9 27212803 27212803 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 27212803 27212803 G A SNP TEK ENST00000380036 human ensembl 74_37 +1 known missense c.2785 p.A929T 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Tyr_kin_Tie2_Ig-like_dom-1_N,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TEK HGNC ENSG00000120156 tier1 - - 59 0 0.00 57 4 6.56 TESPA1 0 genome.wustl.edu 37 12 55360994 55360994 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 55360994 55360994 C T SNP TESPA1 ENST00000316577 human ensembl 74_37 -1 known missense c.283 p.E95K 1.000 NULL NULL - no_errors TESPA1 HGNC ENSG00000135426 58 0 0.00 34 4 10.53 THADA 0 genome.wustl.edu 37 2 43514140 43514140 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 43514140 43514140 C T SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.5071 p.E1691K 0.964 superfamily_ARM-type_fold pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 - - 61 0 0.00 69 4 5.48 THBS1 0 genome.wustl.edu 37 15 39874123 39874123 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 39874123 39874123 C T SNP THBS1 ENST00000260356 human ensembl 74_37 +1 known missense c.65 p.P22L 1.000 NULL pfam_Thrombospondin_C,pfam_Thrombospondin_1_rpt,pfam_VWF_C,pfam_Thrombospondin_3-like_rpt,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Thrombospondin_1_rpt,smart_Laminin_G,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors THBS1 HGNC ENSG00000137801 tier1 - - 28 0 0.00 43 4 8.51 THEMIS2 0 genome.wustl.edu 37 1 28211701 28211701 + RNA SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 28211701 28211701 G C SNP THEMIS2 ENST00000492877 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors THEMIS2 HGNC ENSG00000130775 tier1 - - 34 0 0.00 37 6 13.95 THRA 0 genome.wustl.edu 37 17 38240101 38240101 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 38240101 38240101 G A SNP THRA ENST00000264637 human ensembl 74_37 +1 known missense c.236 p.R79H 1.000 pfam_Znf_hrmn_rcpt,smart_Znf_hrmn_rcpt,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Znf_hrmn_rcpt pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ThyrH_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors THRA HGNC ENSG00000126351 58 0 0.00 55 3 5.17 TMEM132C 0 genome.wustl.edu 37 12 129178490 129178490 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 129178490 129178490 G C SNP TMEM132C ENST00000435159 human ensembl 74_37 +1 known missense c.1566 p.W522C 1.000 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 tier1 - - 62 0 0.00 70 4 5.41 TMEM134 0 genome.wustl.edu 37 11 67232074 67232074 + RNA SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 67232074 67232074 C G SNP TMEM134 ENST00000535813 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors TMEM134 HGNC ENSG00000172663 tier1 - - 229 0 0.00 165 35 17.50 TMEM145 0 genome.wustl.edu 37 19 42818572 42818572 + Splice_Site SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 42818572 42818572 G T SNP TMEM145 ENST00000598766 human ensembl 74_37 +1 putative splice_site c.196-1 e3-1 0.043 - - - no_errors TMEM145 HGNC ENSG00000167619 tier1 - - 50 0 0.00 35 4 10.26 TMEM241 0 genome.wustl.edu 37 18 20932234 20932234 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 18 20932234 20932234 G A SNP TMEM241 ENST00000383233 human ensembl 74_37 -1 known missense c.691 p.L231F 0.994 NULL NULL - no_errors TMEM241 HGNC ENSG00000134490 tier1 - - 81 0 0.00 51 25 32.47 TMEM45B 0 genome.wustl.edu 37 11 129727255 129727255 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 11 129727255 129727255 G C SNP TMEM45B ENST00000281441 human ensembl 74_37 +1 known missense c.618 p.Q206H 0.982 pfam_DUF716_TMEM45 pfam_DUF716_TMEM45 - no_errors TMEM45B HGNC ENSG00000151715 tier1 - - 61 0 0.00 59 28 31.46 TMEM59 0 genome.wustl.edu 37 1 54518838 54518838 + Silent SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 54518838 54518838 G T SNP TMEM59 ENST00000234831 human ensembl 74_37 -1 known silent c.24 p.L8 0.806 NULL pfam_Uncharacterised_TMEM59,superfamily_Prot_inh_Kunz-m - no_errors TMEM59 HGNC ENSG00000116209 tier1 - - 124 0 0.00 102 29 22.14 TMF1 0 genome.wustl.edu 37 3 69088142 69088142 + Nonsense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 69088142 69088142 C A SNP TMF1 ENST00000543976 human ensembl 74_37 -1 known nonsense c.1855 p.E619* 1.000 NULL pfam_TMF_TATA-bd,pfam_TMF_DNA-bd - no_errors TMF1 HGNC ENSG00000144747 tier1 - - 40 0 0.00 29 12 29.27 TMPRSS9 0 genome.wustl.edu 37 19 2416673 2416673 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 2416673 2416673 C T SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known missense c.1781 p.A594V 1.000 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 102 0 0.00 59 4 6.35 TMPRSS9 0 genome.wustl.edu 37 19 2425186 2425186 + Silent SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 2425186 2425186 C T SNP TMPRSS9 ENST00000332578 human ensembl 74_37 +1 known silent c.2802 p.I934 1.000 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_polyserase-1,pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Trypsin-like_Pept_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS9 HGNC ENSG00000178297 37 0 0.00 17 4 19.05 TNFRSF1B 0 genome.wustl.edu 37 1 12252971 12252971 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 12252971 12252971 G A SNP TNFRSF1B ENST00000376259 human ensembl 74_37 +1 known silent c.603 p.T201 0.000 NULL pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B - no_errors TNFRSF1B HGNC ENSG00000028137 45 0 0.00 65 4 5.80 TOP1MT 0 genome.wustl.edu 37 8 144403488 144403488 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 144403488 144403488 G A SNP TOP1MT ENST00000329245 human ensembl 74_37 -1 known silent c.1029 p.L343 0.735 pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI - no_errors TOP1MT HGNC ENSG00000184428 tier1 - - 75 0 0.00 67 26 27.96 TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.818 p.R273H 0.864 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 rs28934576 GMAF=0.0005 48 0 0.00 36 11 23.40 TPTE2P1 0 genome.wustl.edu 37 13 25499986 25499986 + RNA SNP A A T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 13 25499986 25499986 A T SNP TPTE2P1 ENST00000434100 human ensembl 74_37 -1 known rna NULL NULL 0.136 - - - no_errors TPTE2P1 HGNC ENSG00000253771 tier1 - - 69 0 0.00 47 4 7.84 TSPYL4 0 genome.wustl.edu 37 6 116574842 116574842 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 116574842 116574842 G T SNP TSPYL4 ENST00000420283 human ensembl 74_37 -1 known missense c.330 p.D110E 0.183 NULL pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 24 0 0.00 35 4 10.26 TTPAL 0 genome.wustl.edu 37 20 43115331 43115331 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 20 43115331 43115331 G C SNP TTPAL ENST00000262605 human ensembl 74_37 +1 known missense c.735 p.E245D 1.000 pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,prints_CRAL-bd_toc_tran - no_errors TTPAL HGNC ENSG00000124120 63 0 0.00 65 10 13.33 UAP1L1 0 genome.wustl.edu 37 9 139973475 139973475 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 9 139973475 139973475 G T SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known nonsense c.718 p.E240* 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 tier1 - - 94 0 0.00 45 16 26.23 UBE3A 0 genome.wustl.edu 37 15 25605546 25605546 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 25605546 25605546 G C SNP UBE3A ENST00000397954 human ensembl 74_37 -1 known missense c.1746 p.I582M 1.000 pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT pfam_HECT,superfamily_HECT,smart_HECT,pirsf_Ubiquitin-protein_ligase_E6-AP,pfscan_HECT - no_errors UBE3A HGNC ENSG00000114062 tier1 - - 59 0 0.00 66 10 13.16 UNC13D 0 genome.wustl.edu 37 17 73827202 73827202 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 73827202 73827202 C T SNP UNC13D ENST00000412096 human ensembl 74_37 -1 known missense c.2602 p.A868T 0.802 pfam_Munc13_subgr_dom-2 pfam_C2_dom,pfam_Munc13_subgr_dom-2,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors UNC13D HGNC ENSG00000092929 tier1 - - 144 0 0.00 70 35 33.33 URB2 0 genome.wustl.edu 37 1 229771164 229771164 + Silent SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 229771164 229771164 G T SNP URB2 ENST00000258243 human ensembl 74_37 +1 known silent c.804 p.T268 0.577 NULL pfam_Urb2/Npa2_C - no_errors URB2 HGNC ENSG00000135763 tier1 - - 41 0 0.00 36 6 14.29 USP3 0 genome.wustl.edu 37 15 63862741 63862741 + Nonsense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 15 63862741 63862741 G T SNP USP3 ENST00000380324 human ensembl 74_37 +1 known nonsense c.871 p.E291* 1.000 pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 pfam_Peptidase_C19/C67,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19/C67 - no_errors USP3 HGNC ENSG00000140455 tier1 - - 71 0 0.00 74 4 5.13 UTP20 0 genome.wustl.edu 37 12 101706052 101706052 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 12 101706052 101706052 C G SNP UTP20 ENST00000261637 human ensembl 74_37 +1 known missense c.2550 p.I850M 1.000 superfamily_ARM-type_fold pfam_DRIM,superfamily_ARM-type_fold - no_errors UTP20 HGNC ENSG00000120800 tier1 - - 91 0 0.00 99 6 5.71 VAC14 0 genome.wustl.edu 37 16 70796488 70796488 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 70796488 70796488 G A SNP VAC14 ENST00000568886 human ensembl 74_37 -1 known missense c.557 p.A186V 1.000 NULL pfam_HEAT,superfamily_ARM-type_fold - no_errors VAC14 HGNC ENSG00000103043 tier1 - - 83 0 0.00 48 15 23.81 VANGL2 0 genome.wustl.edu 37 1 160388955 160388955 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 160388955 160388955 C G SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known missense c.356 p.S119C 0.603 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 tier1 - - 21 0 0.00 9 4 30.77 VCAN 0 genome.wustl.edu 37 5 82818043 82818043 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 5 82818043 82818043 G A SNP VCAN ENST00000265077 human ensembl 74_37 +1 known silent c.3918 p.A1306 0.001 NULL pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like_dom,prints_Link - no_errors VCAN HGNC ENSG00000038427 tier1 - - 55 0 0.00 37 12 24.49 WAPAL 0 genome.wustl.edu 37 10 88196064 88196064 + RNA SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 10 88196064 88196064 T C SNP WAPAL ENST00000484070 human ensembl 74_37 -1 known rna NULL NULL 0.974 - - - no_errors WAPAL HGNC ENSG00000062650 tier1 - - 97 0 0.00 81 20 19.80 WARS 0 genome.wustl.edu 37 14 100801253 100801253 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 100801253 100801253 C G SNP WARS ENST00000355338 human ensembl 74_37 -1 known missense c.1375 p.E459Q 0.951 tigrfam_Trp-tRNA-ligase pfam_aa-tRNA-synth_Ic,pfam_WHEP-TRS,superfamily_S15_NS1_RNA-bd,pfscan_WHEP-TRS,prints_Trp-tRNA-ligase,tigrfam_Trp-tRNA-ligase - no_errors WARS HGNC ENSG00000140105 tier1 - - 63 0 0.00 41 12 22.22 WDR24 0 genome.wustl.edu 37 16 740071 740071 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 740071 740071 G A SNP WDR24 ENST00000248142 human ensembl 74_37 -1 known silent c.90 p.L30 0.001 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR24 HGNC ENSG00000127580 tier1 - - 74 0 0.00 50 7 12.28 WDR6 0 genome.wustl.edu 37 3 49044854 49044854 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 49044854 49044854 C G SNP WDR6 ENST00000395474 human ensembl 74_37 +1 known missense c.80 p.S27W 0.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR6 HGNC ENSG00000178252 tier1 - - 67 0 0.00 43 7 14.00 XCR1 0 genome.wustl.edu 37 3 46062775 46062775 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 3 46062775 46062775 C T SNP XCR1 ENST00000309285 human ensembl 74_37 -1 known missense c.665 p.R222H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_XCR1,prints_GPCR_Rhodpsn,prints_Chemokine_rcpt,prints_Brdyknn_rcpt - no_errors XCR1 HGNC ENSG00000173578 36 0 0.00 33 2 5.71 XPO1 0 genome.wustl.edu 37 2 61726050 61726051 + Splice_Site INS - - A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 61726050 61726051 - A INS XPO1 ENST00000401558 human ensembl 74_37 -1 known splice_site_ins c.591-3_591-2 e7-2 1.000:0.996 - - - no_errors XPO1 HGNC ENSG00000082898 tier1 28 0 0.00 34 5 12.82 ZAK 0 genome.wustl.edu 37 2 174131459 174131459 + Missense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 174131459 174131459 G A SNP ZAK ENST00000375213 human ensembl 74_37 +1 known missense c.2384 p.R795H 0.928 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SAM_type1,pfam_SAM_2,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MLTK Uniprot_gn ENSG00000091436 tier1 - - 32 0 0.00 46 9 16.36 ZBTB24 0 genome.wustl.edu 37 6 109788901 109788901 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 6 109788901 109788901 G T SNP ZBTB24 ENST00000230122 human ensembl 74_37 -1 known missense c.1325 p.S442Y 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB24 HGNC ENSG00000112365 tier1 - - 59 0 0.00 55 5 8.33 ZFAT 0 genome.wustl.edu 37 8 135669872 135669872 + Missense_Mutation SNP T T A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 8 135669872 135669872 T A SNP ZFAT ENST00000377838 human ensembl 74_37 -1 known missense c.128 p.D43V 0.975 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFAT HGNC ENSG00000066827 tier1 - - 118 0 0.00 76 37 32.74 ZFP14 0 genome.wustl.edu 37 19 36853058 36853058 + Missense_Mutation SNP T T C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 36853058 36853058 T C SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known missense c.92 p.Y31C 0.991 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 ZFP14 HGNC ENSG00000142065 tier1 - - 91 0 0.00 266 17 6.01 ZKSCAN2 0 genome.wustl.edu 37 16 25251879 25251879 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 25251879 25251879 C G SNP ZKSCAN2 ENST00000328086 human ensembl 74_37 -1 known missense c.2162 p.R721T 0.906 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,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 ZKSCAN2 HGNC ENSG00000155592 tier1 - - 56 0 0.00 46 4 8.00 ZMYM1 0 genome.wustl.edu 37 1 35563128 35563128 + Nonsense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 35563128 35563128 C A SNP ZMYM1 ENST00000359858 human ensembl 74_37 +1 novel nonsense c.380 p.S127* 0.107 NULL pfam_Znf_MYM,pfam_HATC_dom_C,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM1 HGNC ENSG00000197056 tier1 - - 81 0 0.00 89 17 16.04 ZMYM6 0 genome.wustl.edu 37 1 35472675 35472675 + Nonsense_Mutation SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 35472675 35472675 G A SNP ZMYM6 ENST00000357182 human ensembl 74_37 -1 known nonsense c.1690 p.R564* 0.935 smart_TRASH_dom pfam_Znf_MYM,superfamily_RNaseH-like_dom,smart_TRASH_dom - no_errors ZMYM6 HGNC ENSG00000163867 tier1 - - 84 0 0.00 81 17 17.35 ZNF281 0 genome.wustl.edu 37 1 200378496 200378496 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 1 200378496 200378496 G C SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.338 p.S113W 0.961 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 tier1 - - 99 0 0.00 63 21 25.00 ZNF385B 0 genome.wustl.edu 37 2 180634307 180634307 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 2 180634307 180634307 C A SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.176 p.R59L 1.000 smart_Znf_U1 pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 43 0 0.00 53 4 7.02 ZNF410 0 genome.wustl.edu 37 14 74371761 74371761 + Silent SNP G G A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 14 74371761 74371761 G A SNP ZNF410 ENST00000555044 human ensembl 74_37 +1 known silent c.888 p.L296 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF410 HGNC ENSG00000119725 tier1 - - 90 0 0.00 122 12 8.96 ZNF44 0 genome.wustl.edu 37 19 12383694 12383694 + Missense_Mutation SNP T T A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 12383694 12383694 T A SNP ZNF44 ENST00000393337 human ensembl 74_37 -1 known missense c.1520 p.D507V 0.000 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 ZNF44 HGNC ENSG00000197857 53 0 0.00 73 4 5.19 ZNF568 0 genome.wustl.edu 37 19 37488248 37488248 + Missense_Mutation SNP G G T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 37488248 37488248 G T SNP ZNF568 ENST00000455427 human ensembl 74_37 +1 known missense c.1463 p.R488L 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF568 HGNC ENSG00000198453 tier1 - - 71 0 0.00 52 13 20.00 ZNF624 0 genome.wustl.edu 37 17 16527278 16527278 + Missense_Mutation SNP C C T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 16527278 16527278 C T SNP ZNF624 ENST00000311331 human ensembl 74_37 -1 known missense c.922 p.E308K 0.485 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 ZNF624 HGNC ENSG00000197566 tier1 - - 67 0 0.00 58 10 14.71 ZNF676 0 genome.wustl.edu 37 19 22363402 22363402 + Missense_Mutation SNP C C A TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 22363402 22363402 C A SNP ZNF676 ENST00000397121 human ensembl 74_37 -1 known missense c.1117 p.A373S 0.257 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF676 HGNC ENSG00000196109 tier1 - - 84 0 0.00 81 12 12.90 ZNF681 0 genome.wustl.edu 37 19 23938284 23938284 + Missense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 23938284 23938284 G C SNP ZNF681 ENST00000402377 human ensembl 74_37 -1 known missense c.73 p.Q25E 0.032 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 ZNF681 HGNC ENSG00000196172 tier1 - - 133 0 0.00 121 26 17.69 ZNF720 0 genome.wustl.edu 37 16 31765249 31765249 + Missense_Mutation SNP A A G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 16 31765249 31765249 A G SNP ZNF720 ENST00000398696 human ensembl 74_37 +1 known missense c.179 p.Y60C 0.008 NULL NULL - no_errors ZNF720 HGNC ENSG00000197302 tier1 - - 39 0 0.00 51 14 21.54 ZNF750 0 genome.wustl.edu 37 17 80790253 80790253 + Frame_Shift_Del DEL T T - TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 17 80790253 80790253 T - DEL ZNF750 ENST00000269394 human ensembl 74_37 -1 known frame_shift_del c.78 p.K26fs 1.000 NULL NULL - no_errors ZNF750 HGNC ENSG00000141579 tier1 64 0 0.00 42 19 31.15 ZNF790 0 genome.wustl.edu 37 19 37310963 37310963 + Missense_Mutation SNP C C G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 37310963 37310963 C G SNP ZNF790 ENST00000356725 human ensembl 74_37 -1 known missense c.283 p.E95Q 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF790 HGNC ENSG00000197863 tier1 - - 87 0 0.00 114 10 8.06 ZNF90 0 genome.wustl.edu 37 19 20229526 20229526 + Missense_Mutation SNP A A T TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 20229526 20229526 A T SNP ZNF90 ENST00000418063 human ensembl 74_37 +1 known missense c.1163 p.K388M 0.990 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 ZNF90 HGNC ENSG00000213988 tier1 - - 75 0 0.00 88 7 7.37 ZNF91 0 genome.wustl.edu 37 19 23544105 23544105 + Nonsense_Mutation SNP G G C TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 23544105 23544105 G C SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known nonsense c.1676 p.S559* 0.023 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 ZNF91 HGNC ENSG00000167232 tier1 - - 73 0 0.00 104 15 12.61 ZNF91 0 genome.wustl.edu 37 19 23544477 23544477 + Missense_Mutation SNP T T G TCGA-Z6-A8JD-01A-11D-A36J-09 TCGA-Z6-A8JD-10A-01D-A36M-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 8286ef82-5230-4709-98b7-cc61ceaa6126 e3d3acd9-944a-4f0c-be2f-3958b80e9a55 19 23544477 23544477 T G SNP ZNF91 ENST00000300619 human ensembl 74_37 -1 known missense c.1304 p.K435T 0.004 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 ZNF91 HGNC ENSG00000167232 tier1 - - 53 0 0.00 52 7 11.86