Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AXDND1 0 genome.wustl.edu 37 1 179452320 179452320 + Missense_Mutation SNP T T G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 1 179452320 179452320 T G SNP AXDND1 ENST00000367618 human ensembl 69_37n +1 known missense c.2055 p.N685K 0.972 NULL pfam_Axonemal_dynein_light_chain - no_errors AXDND1 HGNC ENSG00000162779 183 0 0.00 309 40 11.46 - - - BARD1 0 genome.wustl.edu 37 2 215657118 215657118 + Silent SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 2 215657118 215657118 C T SNP BARD1 ENST00000260947 human ensembl 69_37n -1 known silent c.267 p.P89 1.000 NULL pfam_Ankyrin_rpt,pfam_BRCT_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_BRCT_dom,smart_Ankyrin_rpt,smart_BRCT_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BRCT_dom,pfscan_Znf_RING,prints_Ankyrin_rpt - no_errors BARD1 HGNC ENSG00000138376 128 0 0.00 176 65 26.97 - - - BRIP1 0 genome.wustl.edu 37 17 59821953 59821953 + Splice_Site SNP C C G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 17 59821953 59821953 C G SNP BRIP1 ENST00000259008 human ensembl 69_37n -1 known splice_site c.2098-1 e14-1 1.000 - - - no_errors BRIP1 HGNC ENSG00000136492 299 0 0.00 104 32 23.53 - - - C17orf97 0 genome.wustl.edu 37 17 263606 263606 + Silent SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 17 263606 263606 C T SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known silent c.972 p.G324 0.001 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 18 0 0.00 24 5 17.24 - - - CACNA2D4 0 genome.wustl.edu 37 12 1949960 1949960 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 12 1949960 1949960 C T SNP CACNA2D4 ENST00000537784 human ensembl 69_37n -1 known missense c.337 p.D113N 0.763 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CACNA2D4 HGNC ENSG00000151062 33 0 0.00 37 71 65.74 - - - CRIPAK 0 genome.wustl.edu 37 4 1388375 1388376 + Frame_Shift_Ins INS - - CA TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 4 1388375 1388376 - CA INS CRIPAK ENST00000324803 human ensembl 69_37n +1 known frame_shift_ins c.76_77 p.C27fs 0.039:0.487 NULL smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 41 0 0.00 139 27 16.27 - - - CRIPAK 0 genome.wustl.edu 37 4 1388622 1388623 + Frame_Shift_Ins INS - - CA TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 4 1388622 1388623 - CA INS CRIPAK ENST00000324803 human ensembl 69_37n +1 known frame_shift_ins c.323_324 p.C110fs 0.001:0.028 smart_Post-SET_dom smart_Post-SET_dom - no_errors CRIPAK HGNC ENSG00000179979 17 0 0.00 53 12 18.46 - - - CUL4B 0 genome.wustl.edu 37 X 119694135 119694135 + Missense_Mutation SNP G G C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 X 119694135 119694135 G C SNP CUL4B ENST00000404115 human ensembl 69_37n -1 known missense c.413 p.S138C 0.998 NULL pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology - no_errors CUL4B HGNC ENSG00000158290 48 0 0.00 102 18 15.00 - - - DHTKD1 0 genome.wustl.edu 37 10 12136161 12136161 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 10 12136161 12136161 C T SNP DHTKD1 ENST00000263035 human ensembl 69_37n +1 known missense c.1249 p.R417C 1.000 pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1 - no_errors DHTKD1 HGNC ENSG00000181192 44 0 0.00 131 117 46.99 - - - DIS3L 0 genome.wustl.edu 37 15 66618592 66618592 + Nonsense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 15 66618592 66618592 G A SNP DIS3L ENST00000319212 human ensembl 69_37n +1 known nonsense c.2091 p.W697* 0.999 pfam_RNase_II/R,smart_RNase_II/R pfam_RNase_II/R,smart_RNase_II/R - no_errors DIS3L HGNC ENSG00000166938 100 0 0.00 57 8 12.31 - - - DNA2 0 genome.wustl.edu 37 10 70218891 70218891 + Missense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 10 70218891 70218891 G A SNP DNA2 ENST00000399180 human ensembl 69_37n -1 known missense c.947 p.S316L 0.385 pfam_DNA_replication_fac_Dna2 pfam_DNA_replication_fac_Dna2 - no_errors DNA2 HGNC ENSG00000138346 33 0 0.00 259 49 15.86 - - - DSCAML1 0 genome.wustl.edu 37 11 117342753 117342753 + Splice_Site SNP T T C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 11 117342753 117342753 T C SNP DSCAML1 ENST00000321322 human ensembl 69_37n -1 known splice_site c.2966-2 e15-2 1.000 - - - no_errors DSCAML1 HGNC ENSG00000177103 48 0 0.00 95 76 44.44 - - - DSG4 0 genome.wustl.edu 37 18 28972180 28972182 + In_Frame_Del DEL TCT TCT - TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 18 28972180 28972182 TCT - DEL DSG4 ENST00000359747 human ensembl 69_37n +1 known in_frame_del c.882_884 p.L295in_frame_del 1.000:0.999:0.987 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmoglein,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSG4 HGNC ENSG00000175065 109 0 0.00 137 28 16.97 - - - DYNC1H1 0 genome.wustl.edu 37 14 102452147 102452147 + Missense_Mutation SNP A A G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 14 102452147 102452147 A G SNP DYNC1H1 ENST00000360184 human ensembl 69_37n +1 known missense c.1585 p.N529D 1.000 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase - no_errors DYNC1H1 HGNC ENSG00000197102 101 0 0.00 212 36 14.52 - - - ERP29 0 genome.wustl.edu 37 12 112460034 112460034 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 12 112460034 112460034 C T SNP ERP29 ENST00000261735 human ensembl 69_37n +1 known missense c.364 p.R122W 0.997 pfam_ERp29_N,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29 - no_errors ERP29 HGNC ENSG00000089248 77 0 0.00 90 12 11.76 - - - FAM71B 0 genome.wustl.edu 37 5 156589516 156589516 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 5 156589516 156589516 C T SNP FAM71B ENST00000302938 human ensembl 69_37n -1 known missense c.1760 p.S587N 0.000 NULL pfam_DUF3699 - no_errors FAM71B HGNC ENSG00000170613 179 0 0.00 200 25 11.11 - - - FBXL21 0 genome.wustl.edu 37 5 135273118 135273118 + Missense_Mutation SNP A A T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 5 135273118 135273118 A T SNP FBXL21 ENST00000297158 human ensembl 69_37n +1 known missense c.371 p.D124V 1.000 NULL NULL - pseudogene FBXL21 HGNC ENSG00000164616 47 0 0.00 132 22 14.29 - - - GPR52 0 genome.wustl.edu 37 1 174417939 174417939 + Nonsense_Mutation SNP C C A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 1 174417939 174417939 C A SNP GPR52 ENST00000367685 human ensembl 69_37n +1 known nonsense c.690 p.C230* 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR52 HGNC ENSG00000203737 306 0 0.00 208 127 37.80 - - - GRIN3A 0 genome.wustl.edu 37 9 104499857 104499857 + Silent SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 9 104499857 104499857 C T SNP GRIN3A ENST00000361820 human ensembl 69_37n -1 known silent c.405 p.L135 1.000 NULL pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt - no_errors GRIN3A HGNC ENSG00000198785 15 0 0.00 19 21 52.50 - - - HLA-C 0 genome.wustl.edu 37 6 31238880 31238880 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 6 31238880 31238880 C T SNP HLA-C ENST00000539307 human ensembl 69_37n -1 known missense c.700 p.E234K 0.999 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2 pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-C HGNC ENSG00000204525 19 0 0.00 16 7 30.43 - - - HPS4 0 genome.wustl.edu 37 22 26860227 26860227 + Silent SNP T T G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 22 26860227 26860227 T G SNP HPS4 ENST00000398141 human ensembl 69_37n -1 known silent c.1408 p.R470 0.001 NULL NULL - no_errors HPS4 HGNC ENSG00000100099 92 0 0.00 31 78 71.56 - - - HSD17B6 0 genome.wustl.edu 37 12 57181033 57181033 + Silent SNP T T A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 12 57181033 57181033 T A SNP HSD17B6 ENST00000322165 human ensembl 69_37n +1 known silent c.861 p.A287 0.022 NULL pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors HSD17B6 HGNC ENSG00000025423 69 0 0.00 86 19 18.10 - - - KLHL7 0 genome.wustl.edu 37 7 23163424 23163424 + Missense_Mutation SNP T T G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 7 23163424 23163424 T G SNP KLHL7 ENST00000339077 human ensembl 69_37n +1 known missense c.149 p.V50G 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 34 0 0.00 223 45 16.79 - - - KRTAP1-1 0 genome.wustl.edu 37 17 39197512 39197512 + Frame_Shift_Del DEL C C - TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 17 39197512 39197512 C - DEL KRTAP1-1 ENST00000306271 human ensembl 69_37n -1 known frame_shift_del c.138 p.Q46fs 0.109 pfam_Keratin-assoc pfam_Keratin-assoc - no_errors KRTAP1-1 HGNC ENSG00000188581 45 0 0.00 16 17 51.52 - - - LRRC16B 0 genome.wustl.edu 37 14 24528876 24528876 + Silent SNP T T G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 14 24528876 24528876 T G SNP LRRC16B ENST00000342740 human ensembl 69_37n +1 known silent c.1803 p.T601 0.997 NULL smart_Leu-rich_rpt_RNase_inh_sub-typ - no_errors LRRC16B HGNC ENSG00000186648 10 0 0.00 125 43 25.60 - - - LRRN1 0 genome.wustl.edu 37 3 3888104 3888104 + Missense_Mutation SNP A A C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 3 3888104 3888104 A C SNP LRRN1 ENST00000319331 human ensembl 69_37n +1 known missense c.1779 p.E593D 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors LRRN1 HGNC ENSG00000175928 288 0 0.00 193 77 28.52 - - - LRTM2 0 genome.wustl.edu 37 12 1943503 1943503 + Silent SNP C C A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 12 1943503 1943503 C A SNP LRTM2 ENST00000299194 human ensembl 69_37n +1 known silent c.729 p.P243 1.000 smart_Cys-rich_flank_reg_C pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 19 0 0.00 13 11 45.83 - - - LRTM2 0 genome.wustl.edu 37 12 1943594 1943594 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 12 1943594 1943594 C T SNP LRTM2 ENST00000299194 human ensembl 69_37n +1 known missense c.820 p.P274S 0.994 NULL pfam_Leu-rich_rpt,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM2 HGNC ENSG00000166159 20 0 0.00 16 6 27.27 - - - MAML1 0 genome.wustl.edu 37 5 179195873 179195873 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 5 179195873 179195873 C T SNP MAML1 ENST00000292599 human ensembl 69_37n +1 known missense c.1754 p.P585L 0.948 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML1 HGNC ENSG00000161021 205 0 0.00 69 21 23.33 - - - MDN1 0 genome.wustl.edu 37 6 90426511 90426511 + Missense_Mutation SNP C C G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 6 90426511 90426511 C G SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.6601 p.E2201Q 1.000 smart_AAA+_ATPase,pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 136 0 0.00 89 241 73.03 - - - MUC16 0 genome.wustl.edu 37 19 9048936 9048937 + Frame_Shift_Del DEL AA AA - TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 AA AA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 19 9048936 9048937 AA - DEL MUC16 ENST00000397910 human ensembl 69_37n -1 known frame_shift_del c.32695_32694 p.P10900fs 0.000:0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 706 0 0.00 109 53 32.72 - - - MYBL1 0 genome.wustl.edu 37 8 67485600 67485600 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 8 67485600 67485600 C T SNP MYBL1 ENST00000522677 human ensembl 69_37n -1 known missense c.1612 p.G538R 1.000 pfam_C-myb_C pfam_C-myb_C,pfam_SANT/Myb,pfam_Tscrpt_reg_Wos2-domain,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom - no_errors MYBL1 HGNC ENSG00000185697 281 0 0.00 498 92 15.59 - - - NEB 0 genome.wustl.edu 37 2 152375530 152375532 + In_Frame_Del DEL CTT CTT - TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 CTT CTT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 2 152375530 152375532 CTT - DEL NEB ENST00000397345 human ensembl 69_37n -1 known in_frame_del c.22644_22642 p.K7548in_frame_del 0.987:1.000:1.000 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 54 0 0.00 251 159 38.78 - - - NR4A3 0 genome.wustl.edu 37 9 102609749 102609749 + Silent SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 9 102609749 102609749 C T SNP NR4A3 ENST00000330847 human ensembl 69_37n +1 known silent c.1518 p.F506 1.000 pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Nuc_orph_rcpt,prints_Retinoic_acid_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_NOR1_rcpt,prints_Nuc_orph_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt - no_errors NR4A3 HGNC ENSG00000119508 90 0 0.00 222 54 19.57 - - - NRXN1 0 genome.wustl.edu 37 2 50850528 50850528 + Missense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 2 50850528 50850528 G A SNP NRXN1 ENST00000402717 human ensembl 69_37n -1 known missense c.1058 p.A353V 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN1 HGNC ENSG00000179915 155 0 0.00 207 45 17.86 - - - NSUN6 0 genome.wustl.edu 37 10 18931451 18931451 + Missense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 10 18931451 18931451 G A SNP NSUN6 ENST00000377304 human ensembl 69_37n -1 known missense c.265 p.H89Y 1.000 NULL pfam_Fmu/NOL1/Nop2p,pfam_rRNA_MeTrfase_FtsJ_dom,pfam_PUA,superfamily_PUA-like_domain,prints_RCMT,pfscan_PUA - no_errors NSUN6 HGNC ENSG00000241058 291 0 0.00 124 28 18.42 - - - NUP160 0 genome.wustl.edu 37 11 47859145 47859146 + Frame_Shift_Del DEL CT CT - TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 CT CT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 11 47859145 47859146 CT - DEL NUP160 ENST00000378460 human ensembl 69_37n -1 known frame_shift_del c.779_778 p.S260fs 1.000:1.000 pfam_Nucleoporin_Nup160 pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 315 0 0.00 92 52 36.11 - - - PDS5B 0 genome.wustl.edu 37 13 33275522 33275522 + Silent SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 13 33275522 33275522 C T SNP PDS5B ENST00000315596 human ensembl 69_37n +1 known silent c.1803 p.I601 0.994 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors PDS5B HGNC ENSG00000083642 80 0 0.00 227 132 36.77 - - - PEX6 0 genome.wustl.edu 37 6 42932852 42932852 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 6 42932852 42932852 C T SNP PEX6 ENST00000304611 human ensembl 69_37n -1 known missense c.2627 p.R876Q 1.000 NULL pfam_ATPase_AAA_core,smart_AAA+_ATPase - no_errors PEX6 HGNC ENSG00000124587 81 0 0.00 109 24 17.91 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 74 0 0.00 123 89 41.98 - - - PNLIP 0 genome.wustl.edu 37 10 118315541 118315541 + Missense_Mutation SNP T T G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 10 118315541 118315541 T G SNP PNLIP ENST00000369221 human ensembl 69_37n +1 known missense c.841 p.L281V 0.254 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH,prints_Lipase pfam_Lipase_N,pfam_LipOase_LH2,superfamily_Lipase_LipOase,smart_LipOase_LH2,pirsf_Lipoprotein_lipase_LIPH,pfscan_LipOase_LH2,prints_Lipase,prints_Lipase_panc - no_errors PNLIP HGNC ENSG00000175535 211 0 0.00 212 46 17.83 - - - PRDM1 0 genome.wustl.edu 37 6 106553776 106553776 + Missense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 6 106553776 106553776 G A SNP PRDM1 ENST00000369096 human ensembl 69_37n +1 known missense c.1741 p.A581T 0.998 pfam_Znf_C2H2,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM1,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM1 HGNC ENSG00000057657 74 0 0.00 27 11 28.21 - - - PRLR 0 genome.wustl.edu 37 5 35086314 35086314 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 5 35086314 35086314 C T SNP PRLR ENST00000382002 human ensembl 69_37n -1 known missense c.199 p.E67K 1.000 pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors PRLR HGNC ENSG00000113494 185 0 0.00 91 76 45.24 - - - RBM27 0 genome.wustl.edu 37 5 145641353 145641353 + Missense_Mutation SNP A A G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 5 145641353 145641353 A G SNP RBM27 ENST00000265271 human ensembl 69_37n +1 known missense c.2174 p.H725R 0.944 NULL pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom - no_errors RBM27 HGNC ENSG00000091009 120 0 0.00 28 20 40.82 - - - RBM5 0 genome.wustl.edu 37 3 50154522 50154522 + Nonsense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 3 50154522 50154522 C T SNP RBM5 ENST00000347869 human ensembl 69_37n +1 known nonsense c.2110 p.R704* 0.996 NULL pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 42 0 0.00 157 82 34.31 - - - SALL2 0 genome.wustl.edu 37 14 21991858 21991858 + Missense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 14 21991858 21991858 G A SNP SALL2 ENST00000546363 human ensembl 69_37n -1 putative missense c.1580 p.S527F 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SALL2 HGNC ENSG00000165821 78 0 0.00 54 24 30.77 - - - SLC24A3 0 genome.wustl.edu 37 20 19560658 19560658 + Missense_Mutation SNP C C G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 20 19560658 19560658 C G SNP SLC24A3 ENST00000328041 human ensembl 69_37n +1 known missense c.363 p.F121L 1.000 tigrfam_K-dep_Na/Ca-exchanger-like pfam_NaCa_Exmemb,tigrfam_K-dep_Na/Ca-exchanger-like - no_errors SLC24A3 HGNC ENSG00000185052 67 0 0.00 598 109 15.40 - - - SNCAIP 0 genome.wustl.edu 37 5 121758575 121758575 + Missense_Mutation SNP G G C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 5 121758575 121758575 G C SNP SNCAIP ENST00000379533 human ensembl 69_37n +1 known missense c.284 p.S95T 0.984 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SNCAIP HGNC ENSG00000064692 121 0 0.00 34 52 60.47 - - - SNW1 0 genome.wustl.edu 37 14 78205185 78205185 + Nonsense_Mutation SNP G G A TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 14 78205185 78205185 G A SNP SNW1 ENST00000261531 human ensembl 69_37n -1 known nonsense c.469 p.Q157* 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 127 0 0.00 132 65 32.83 - - - SSPN 0 genome.wustl.edu 37 12 26383694 26383694 + Silent SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 12 26383694 26383694 C T SNP SSPN ENST00000242729 human ensembl 69_37n +1 known silent c.417 p.A139 0.277 pfam_CD20-like pfam_CD20-like - no_errors SSPN HGNC ENSG00000123096 67 0 0.00 135 22 14.01 - - - STAG3L1 0 genome.wustl.edu 37 7 74991317 74991317 + RNA DEL G G - TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 7 74991317 74991317 G - DEL STAG3L1 ENST00000402225 human ensembl 69_37n +1 known rna NULL NULL 0.943 - - - no_errors STAG3L1 HGNC ENSG00000205583 94 0 0.00 40 10 19.23 - - - TPR 0 genome.wustl.edu 37 1 186287865 186287865 + Missense_Mutation SNP C C T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 1 186287865 186287865 C T SNP TPR ENST00000367478 human ensembl 69_37n -1 known missense c.6664 p.V2222M 0.995 NULL pfam_TPR_MLP1_2,superfamily_Prefoldin,superfamily_tRNA-bd_arm - no_errors TPR HGNC ENSG00000047410 126 0 0.00 112 38 25.33 - - - TSG101 0 genome.wustl.edu 37 11 18531179 18531179 + Missense_Mutation SNP T T C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 11 18531179 18531179 T C SNP TSG101 ENST00000251968 human ensembl 69_37n -1 known missense c.391 p.M131V 1.000 pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD pfam_UEV_N,pfam_Steadiness_box,superfamily_UBQ-conjugating_enzyme/RWD - no_errors TSG101 HGNC ENSG00000074319 156 0 0.00 89 17 16.04 - - - TTYH2 0 genome.wustl.edu 37 17 72248454 72248454 + Missense_Mutation SNP G G T TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 17 72248454 72248454 G T SNP TTYH2 ENST00000269346 human ensembl 69_37n +1 known missense c.1198 p.A400S 0.992 pfam_Tweety pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 42 0 0.00 177 35 16.51 - - - UCHL3 0 genome.wustl.edu 37 13 76141383 76141383 + Missense_Mutation SNP A A G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 13 76141383 76141383 A G SNP UCHL3 ENST00000377595 human ensembl 69_37n +1 known missense c.361 p.K121E 1.000 pfam_Peptidase_C12 pfam_Peptidase_C12,prints_Peptidase_C12 - no_errors UCHL3 HGNC ENSG00000118939 244 0 0.00 107 43 28.67 - - - USP51 0 genome.wustl.edu 37 X 55513981 55513981 + Missense_Mutation SNP G G C TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 X 55513981 55513981 G C SNP USP51 ENST00000500968 human ensembl 69_37n -1 known missense c.1392 p.H464Q 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19 - no_errors USP51 HGNC ENSG00000247746 175 0 0.00 189 28 12.90 - - - WHSC1 0 genome.wustl.edu 37 4 1920229 1920229 + Missense_Mutation SNP A A G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 4 1920229 1920229 A G SNP WHSC1 ENST00000382891 human ensembl 69_37n +1 known missense c.1289 p.D430G 0.278 NULL pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,pfam_HMG_superfamily,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_PWWP,smart_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_HMG_superfamily - no_errors WHSC1 HGNC ENSG00000109685 37 0 0.00 73 26 25.74 - - - ZC3H18 0 genome.wustl.edu 37 16 88677692 88677693 + Frame_Shift_Del DEL GA GA - TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 GA GA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 16 88677692 88677693 GA - DEL ZC3H18 ENST00000301011 human ensembl 69_37n +1 known frame_shift_del c.1223_1224 p.E411fs 0.616:0.522 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 8 0 0.00 4 2 33.33 - - - ZFHX4 0 genome.wustl.edu 37 8 77620135 77620135 + Missense_Mutation SNP A A G TCGA-A8-A06R-01A-11D-A015-09 TCGA-A8-A06R-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c6b00eff-6c4e-4d79-a9b1-8fb1f3090816 bf64ab88-5956-4a6a-a303-6a2cbb82f649 8 77620135 77620135 A G SNP ZFHX4 ENST00000521891 human ensembl 69_37n +1 known missense c.2945 p.K982R 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2 - no_errors ZFHX4 HGNC ENSG00000091656 141 0 0.00 188 22 10.48 - - -