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 ABAT 0 genome.wustl.edu 37 16 8868872 8868872 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 16 8868872 8868872 G A SNP ABAT ENST00000268251 human ensembl 69_37n +1 known missense c.1080 p.M360I 1.000 pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4NH2But_aminotransferase_euk - no_errors ABAT HGNC ENSG00000183044 47 0 0.00 27 5 15.62 - - - ABCB4 0 genome.wustl.edu 37 7 87042989 87042989 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 87042989 87042989 C T SNP ABCB4 ENST00000265723 human ensembl 69_37n -1 known silent c.2727 p.L909 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1 pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1 - no_errors ABCB4 HGNC ENSG00000005471 255 0 0.00 210 34 13.93 - - - AFF3 0 genome.wustl.edu 37 2 100209770 100209770 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 100209770 100209770 C G SNP AFF3 ENST00000356421 human ensembl 69_37n -1 known missense c.2428 p.E810Q 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 41 0 0.00 19 9 32.14 - - - ALMS1P 0 genome.wustl.edu 37 2 73912256 73912256 + RNA SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 73912256 73912256 G A SNP ALMS1P ENST00000450720 human ensembl 69_37n +1 known rna NULL NULL 0.001 - - - no_errors ALMS1P HGNC ENSG00000163016 29 0 0.00 21 5 19.23 - - - APOB 0 genome.wustl.edu 37 2 21231741 21231741 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 21231741 21231741 C G SNP APOB ENST00000233242 human ensembl 69_37n -1 known missense c.7999 p.E2667Q 0.981 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 106 0 0.00 64 17 20.99 - - - APOL2 0 genome.wustl.edu 37 22 36624084 36624084 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 22 36624084 36624084 G C SNP APOL2 ENST00000249066 human ensembl 69_37n -1 known missense c.380 p.S127C 0.900 pfam_ApoL pfam_ApoL - no_errors APOL2 HGNC ENSG00000128335 48 0 0.00 24 10 29.41 - - - ASCC3 0 genome.wustl.edu 37 6 101054655 101054655 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 101054655 101054655 C G SNP ASCC3 ENST00000369162 human ensembl 69_37n -1 known missense c.5005 p.D1669H 1.000 pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_AAA+_ATPase,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ASCC3 HGNC ENSG00000112249 119 0 0.00 108 16 12.80 - - - ATIC 0 genome.wustl.edu 37 2 216197123 216197124 + Frame_Shift_Ins INS - - A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 216197123 216197124 - A INS ATIC ENST00000236959 human ensembl 69_37n +1 known frame_shift_ins c.707_708 p.F237fs 1.000:0.833 pfam_AICARFT_IMPCHas,superfamily_Cytidine_deaminase-like,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas pfam_AICARFT_IMPCHas,pfam_MGS-like_dom,superfamily_Cytidine_deaminase-like,superfamily_MGS-like_dom,smart_MGS-like_dom,smart_AICARFT_IMPCHas,pirsf_AICARFT_IMPCHas,tigrfam_AICARFT_IMPCHas - no_errors ATIC HGNC ENSG00000138363 128 0 0.00 92 15 14.02 - - - AVPR1B 0 genome.wustl.edu 37 1 206231046 206231046 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 206231046 206231046 C T SNP AVPR1B ENST00000367126 human ensembl 69_37n +1 known silent c.1179 p.L393 0.978 prints_Vprs_rcpt_V1B pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Vprs_rcpt_V1B,prints_Vasoprsn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Vprs_V1A_rcpt - no_errors AVPR1B HGNC ENSG00000198049 9 0 0.00 31 7 18.42 - - - BAIAP2L1 0 genome.wustl.edu 37 7 97933661 97933661 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 97933661 97933661 G A SNP BAIAP2L1 ENST00000005260 human ensembl 69_37n -1 known silent c.1269 p.T423 0.001 NULL pfam_IRSp53/MIM_homology_IMD,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors BAIAP2L1 HGNC ENSG00000006453 60 0 0.00 40 7 14.89 - - - BIRC6 0 genome.wustl.edu 37 2 32836564 32836564 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 32836564 32836564 G A SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.14309 p.C4770Y 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 146 0 0.00 71 28 28.28 - - - BOD1L1 0 genome.wustl.edu 37 4 13601173 13601173 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 4 13601173 13601173 C T SNP BOD1L1 ENST00000040738 human ensembl 69_37n -1 known missense c.7351 p.E2451K 0.000 NULL NULL - no_errors BOD1L1 HGNC ENSG00000038219 264 0 0.00 149 48 24.37 - - - C14orf102 0 genome.wustl.edu 37 14 90778838 90778838 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 90778838 90778838 C G SNP C14orf102 ENST00000354366 human ensembl 69_37n -1 known missense c.457 p.E153Q 1.000 NULL pfam_NRDE-2 - no_errors C14orf102 HGNC ENSG00000119720 94 0 0.00 66 16 19.28 - - - C14orf38 0 genome.wustl.edu 37 14 60041705 60041705 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 60041705 60041705 C T SNP C14orf38 ENST00000281581 human ensembl 69_37n -1 known missense c.199 p.A67T 0.982 NULL superfamily_Prefoldin - no_errors C14orf38 HGNC ENSG00000151838 170 0 0.00 90 27 23.08 - - - C2orf15 0 genome.wustl.edu 37 2 99811355 99811355 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 99811355 99811355 G C SNP C2orf15 ENST00000424491 human ensembl 69_37n +1 known missense c.364 p.E122Q 0.343 pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like pfam_Ribosomal_L30_ferredoxin-like,superfamily_Ribosomal_L30_ferredoxin-like - no_errors C2orf15 HGNC ENSG00000241962 173 0 0.00 110 38 25.68 - - - C2orf16 0 genome.wustl.edu 37 2 27803414 27803414 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 27803414 27803414 G C SNP C2orf16 ENST00000408964 human ensembl 69_37n +1 known missense c.3975 p.K1325N 0.029 NULL NULL - no_errors C2orf16 HGNC ENSG00000221843 71 0 0.00 52 20 27.78 - - - C4orf3 0 genome.wustl.edu 37 4 120221638 120221638 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 4 120221638 120221638 C G SNP C4orf3 ENST00000399075 human ensembl 69_37n -1 known missense c.452 p.R151P 0.535 NULL NULL - no_errors C4orf3 HGNC ENSG00000164096 65 0 0.00 40 17 29.82 - - - C4orf40 0 genome.wustl.edu 37 4 71024408 71024408 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 4 71024408 71024408 G C SNP C4orf40 ENST00000344526 human ensembl 69_37n +1 known missense c.439 p.E147Q 0.005 NULL NULL - no_errors C4orf40 HGNC ENSG00000187533 64 0 0.00 30 16 34.78 - - - C7 0 genome.wustl.edu 37 5 40936479 40936479 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 40936479 40936479 C T SNP C7 ENST00000313164 human ensembl 69_37n +1 known missense c.320 p.S107F 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,prints_MAC_perforin pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C7 HGNC ENSG00000112936 120 0 0.00 79 12 13.19 - - - C7orf62 0 genome.wustl.edu 37 7 88423641 88423641 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 88423641 88423641 C G SNP C7orf62 ENST00000297203 human ensembl 69_37n -1 known missense c.616 p.D206H 1.000 NULL NULL - no_errors C7orf62 HGNC ENSG00000164645 179 0 0.00 150 37 19.79 - - - C9orf174 0 genome.wustl.edu 37 9 100074413 100074413 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 100074413 100074413 G C SNP C9orf174 ENST00000375202 human ensembl 69_37n +1 known missense c.411 p.K137N 0.009 NULL NULL - no_errors C9orf174 HGNC ENSG00000197816 57 0 0.00 46 6 11.54 - - - CABIN1 0 genome.wustl.edu 37 22 24515498 24515498 + Nonsense_Mutation SNP G G T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 22 24515498 24515498 G T SNP CABIN1 ENST00000263119 human ensembl 69_37n +1 known nonsense c.4465 p.E1489* 1.000 NULL pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors CABIN1 HGNC ENSG00000099991 9 0 0.00 13 4 23.53 - - - CACNA1G 0 genome.wustl.edu 37 17 48650139 48650139 + Nonsense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 48650139 48650139 C G SNP CACNA1G ENST00000359106 human ensembl 69_37n +1 known nonsense c.971 p.S324* 0.993 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1 - no_errors CACNA1G HGNC ENSG00000006283 12 0 0.00 64 11 14.67 - - - CACNA2D2 0 genome.wustl.edu 37 3 50415439 50415439 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 50415439 50415439 C G SNP CACNA2D2 ENST00000435965 human ensembl 69_37n -1 known silent c.1479 p.L493 1.000 pfam_Cache_domain pfam_VWA_N,pfam_VDCC_a2/dsu,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D2 HGNC ENSG00000007402 42 0 0.00 14 7 33.33 - - - CADPS 0 genome.wustl.edu 37 3 62423808 62423808 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 62423808 62423808 C T SNP CADPS ENST00000383710 human ensembl 69_37n -1 known missense c.3748 p.E1250K 1.000 NULL pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors CADPS HGNC ENSG00000163618 75 0 0.00 48 15 23.81 - - - CATSPER4 0 genome.wustl.edu 37 1 26517876 26517876 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 26517876 26517876 C T SNP CATSPER4 ENST00000456354 human ensembl 69_37n +1 known silent c.312 p.I104 0.094 NULL pfam_Ion_trans_dom,pfam_PKD1_2_channel - no_errors CATSPER4 HGNC ENSG00000188782 31 0 0.00 11 8 42.11 - - - CCR2 0 genome.wustl.edu 37 3 46399964 46399964 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 46399964 46399964 C T SNP CCR2 ENST00000445132 human ensembl 69_37n +1 known missense c.946 p.L316F 0.046 prints_Chemokine_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_rcpt,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CCR2 - no_errors CCR2 HGNC ENSG00000121807 68 0 0.00 68 15 18.07 - - - CDC25A 0 genome.wustl.edu 37 3 48224485 48224485 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 48224485 48224485 C G SNP CDC25A ENST00000302506 human ensembl 69_37n -1 known missense c.363 p.R121S 0.996 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25A HGNC ENSG00000164045 72 0 0.00 42 12 22.22 - - - CENPO 0 genome.wustl.edu 37 2 25039532 25039532 + Silent SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 25039532 25039532 C A SNP CENPO ENST00000260662 human ensembl 69_37n +1 known silent c.612 p.L204 0.278 NULL pfam_Centromere_CenpO - no_errors CENPO HGNC ENSG00000138092 104 0 0.00 63 16 20.25 - - - CEP250 0 genome.wustl.edu 37 20 34082384 34082384 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 20 34082384 34082384 G A SNP CEP250 ENST00000397527 human ensembl 69_37n +1 known missense c.3067 p.D1023N 0.104 NULL superfamily_Prefoldin - no_errors CEP250 HGNC ENSG00000126001 98 0 0.00 70 10 12.50 - - - CFHR5 0 genome.wustl.edu 37 1 196963292 196963292 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 196963292 196963292 G A SNP CFHR5 ENST00000367414 human ensembl 69_37n +1 known silent c.585 p.L195 0.427 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 160 0 0.00 220 41 15.71 - - - CIC 0 genome.wustl.edu 37 19 42791541 42791541 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 42791541 42791541 C G SNP CIC ENST00000160740 human ensembl 69_37n +1 known silent c.522 p.L174 0.998 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 36 0 0.00 27 6 18.18 - - - CLC 0 genome.wustl.edu 37 19 40225039 40225039 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 40225039 40225039 C G SNP CLC ENST00000221804 human ensembl 69_37n -1 known missense c.187 p.V63L 0.002 pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD pfam_Galectin_CRD,superfamily_ConA-like_lec_gl,smart_Galectin_CRD - no_errors CLC HGNC ENSG00000105205 97 0 0.00 79 21 21.00 - - - CLUAP1 0 genome.wustl.edu 37 16 3558457 3558457 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 16 3558457 3558457 C G SNP CLUAP1 ENST00000576634 human ensembl 69_37n +1 known missense c.388 p.L130V 0.999 pfam_Clusterin-associated_protein-1 pfam_Clusterin-associated_protein-1,superfamily_CH-domain - no_errors CLUAP1 HGNC ENSG00000103351 120 0 0.00 96 23 19.33 - - - CMYA5 0 genome.wustl.edu 37 5 79032398 79032398 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 79032398 79032398 G A SNP CMYA5 ENST00000446378 human ensembl 69_37n +1 known missense c.7810 p.E2604K 0.020 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3 - no_errors CMYA5 HGNC ENSG00000164309 115 0 0.00 75 15 16.67 - - - CNKSR1 0 genome.wustl.edu 37 1 26510895 26510895 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 26510895 26510895 C T SNP CNKSR1 ENST00000374253 human ensembl 69_37n +1 known missense c.1025 p.S342F 0.697 NULL pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 67 0 0.00 34 9 20.93 - - - CNKSR1 0 genome.wustl.edu 37 1 26513679 26513679 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 26513679 26513679 C T SNP CNKSR1 ENST00000374253 human ensembl 69_37n +1 known silent c.1350 p.L450 0.997 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 127 0 0.00 82 16 16.33 - - - CNKSR1 0 genome.wustl.edu 37 1 26514740 26514740 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 26514740 26514740 C G SNP CNKSR1 ENST00000374253 human ensembl 69_37n +1 known silent c.1491 p.L497 0.981 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_CRIC_domain_Chordata,pfam_Pleckstrin_homology,pfam_SAM_type1,superfamily_SAM/pointed,superfamily_PDZ,smart_SAM,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_SAM - no_errors CNKSR1 HGNC ENSG00000142675 61 0 0.00 34 9 20.93 - - - CNTN2 0 genome.wustl.edu 37 1 205031020 205031020 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 205031020 205031020 C G SNP CNTN2 ENST00000331830 human ensembl 69_37n +1 known missense c.1001 p.S334W 1.000 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors CNTN2 HGNC ENSG00000184144 17 0 0.00 23 7 23.33 - - - CNTRL 0 genome.wustl.edu 37 9 123880758 123880758 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 123880758 123880758 G A SNP CNTRL ENST00000238341 human ensembl 69_37n +1 known silent c.1590 p.Q530 0.997 superfamily_Prefoldin pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 126 0 0.00 88 32 26.67 - - - COL14A1 0 genome.wustl.edu 37 8 121256230 121256230 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 8 121256230 121256230 C T SNP COL14A1 ENST00000297848 human ensembl 69_37n +1 known missense c.2462 p.S821F 0.997 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_VWF_A,pfam_Fibronectin_type3,pfam_Collagen,superfamily_ConA-like_lec_gl,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL14A1 HGNC ENSG00000187955 75 0 0.00 38 10 20.83 - - - COX20 0 genome.wustl.edu 37 1 245006509 245006509 + RNA SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 245006509 245006509 G A SNP COX20 ENST00000391839 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors COX20 HGNC ENSG00000203667 86 0 0.00 90 24 21.05 - - - CPEB2 0 genome.wustl.edu 37 4 15054051 15054051 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 4 15054051 15054051 C G SNP CPEB2 ENST00000538197 human ensembl 69_37n +1 known silent c.2214 p.L738 1.000 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 367 0 0.00 291 54 15.61 - - - CRTAP 0 genome.wustl.edu 37 3 33175749 33175749 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 33175749 33175749 G A SNP CRTAP ENST00000320954 human ensembl 69_37n +1 known missense c.1144 p.D382N 1.000 NULL NULL - no_errors CRTAP HGNC ENSG00000170275 202 1 0.49 144 36 20.00 - - - CTNNA1 0 genome.wustl.edu 37 5 138223329 138223329 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 138223329 138223329 G C SNP CTNNA1 ENST00000302763 human ensembl 69_37n +1 known missense c.1294 p.E432Q 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA1 HGNC ENSG00000044115 147 0 0.00 89 21 18.92 - - - CTTNBP2NL 0 genome.wustl.edu 37 1 112999921 112999921 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 112999921 112999921 C T SNP CTTNBP2NL ENST00000271277 human ensembl 69_37n +1 known missense c.1807 p.H603Y 0.912 NULL pfam_Cortactin-binding_p2_N - no_errors CTTNBP2NL HGNC ENSG00000143079 58 0 0.00 30 15 33.33 - - - CXCR7 0 genome.wustl.edu 37 2 237489685 237489685 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 237489685 237489685 G A SNP CXCR7 ENST00000272928 human ensembl 69_37n +1 known missense c.577 p.E193K 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_RDC1_rcpt,prints_7TM_GPCR_Rhodpsn,prints_ATII_rcpt,prints_P2_purnocptor,prints_Frt_met_rcpt - no_errors CXCR7 HGNC ENSG00000144476 20 0 0.00 13 5 27.78 - - - CYP1B1 0 genome.wustl.edu 37 2 38298053 38298053 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 38298053 38298053 G C SNP CYP1B1 ENST00000260630 human ensembl 69_37n -1 known missense c.1444 p.L482V 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450 - no_errors CYP1B1 HGNC ENSG00000138061 100 0 0.00 66 19 22.09 - - - CYP2A13 0 genome.wustl.edu 37 19 41601698 41601698 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 41601698 41601698 G A SNP CYP2A13 ENST00000330436 human ensembl 69_37n +1 known missense c.1337 p.R446K 0.981 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2A-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV - no_errors CYP2A13 HGNC ENSG00000197838 106 0 0.00 92 19 17.12 - - - DDX43 0 genome.wustl.edu 37 6 74104715 74104715 + Missense_Mutation SNP G G T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 74104715 74104715 G T SNP DDX43 ENST00000370336 human ensembl 69_37n +1 known missense c.87 p.R29S 0.057 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_KH_dom_type_1,smart_KH_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_KH_dom_type_1,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif - no_errors DDX43 HGNC ENSG00000080007 22 0 0.00 10 4 28.57 - - - DMBT1 0 genome.wustl.edu 37 10 124380755 124380755 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 10 124380755 124380755 C T SNP DMBT1 ENST00000368915 human ensembl 69_37n +1 known missense c.5467 p.R1823W 0.102 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,pfam_CUB,pfam_Zona_pellucida_Endoglin/CD105,superfamily_Srcr_rcpt-rel,superfamily_CUB,smart_Srcr_rcpt-rel,smart_CUB,smart_Zona_pellucida_Endoglin/CD105,pfscan_CUB,pfscan_Srcr_rcpt,pfscan_Zona_pellucida_Endoglin/CD105,prints_Srcr_rcpt - no_errors DMBT1 HGNC ENSG00000187908 62 0 0.00 37 14 27.45 - - - DMXL1 0 genome.wustl.edu 37 5 118482538 118482538 + Nonsense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 118482538 118482538 C G SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known nonsense c.2576 p.S859* 0.513 superfamily_WD40_repeat_dom pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 176 0 0.00 124 60 32.61 - - - DMXL1 0 genome.wustl.edu 37 5 118569138 118569138 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 118569138 118569138 G C SNP DMXL1 ENST00000539542 human ensembl 69_37n +1 known missense c.8442 p.M2814I 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL1 HGNC ENSG00000172869 184 0 0.00 125 42 25.15 - - - DNAH14 0 genome.wustl.edu 37 1 225334811 225334811 + Silent SNP G G T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 225334811 225334811 G T SNP DNAH14 ENST00000430092 human ensembl 69_37n +1 known silent c.4749 p.V1583 1.000 smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase - no_errors DNAH14 HGNC ENSG00000185842 238 0 0.00 217 31 12.50 - - - DNAH3 0 genome.wustl.edu 37 16 21078621 21078621 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 16 21078621 21078621 C T SNP DNAH3 ENST00000261383 human ensembl 69_37n -1 known silent c.3501 p.K1167 1.000 pfam_Dynein_heavy_dom-2 pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Prefoldin,smart_AAA+_ATPase - no_errors DNAH3 HGNC ENSG00000158486 129 0 0.00 91 13 12.50 - - - DNAH6 0 genome.wustl.edu 37 2 84880876 84880876 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 84880876 84880876 G A SNP DNAH6 ENST00000237449 human ensembl 69_37n +1 known missense c.5512 p.D1838N 1.000 pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH6 HGNC ENSG00000115423 121 0 0.00 70 26 27.08 - - - DNAH9 0 genome.wustl.edu 37 17 11522991 11522991 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 11522991 11522991 C G SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.1243 p.L415V 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,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 95 0 0.00 41 20 32.79 - - - DNMT1 0 genome.wustl.edu 37 19 10260162 10260162 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 10260162 10260162 G A SNP DNMT1 ENST00000359526 human ensembl 69_37n -1 known silent c.2553 p.I851 0.026 pirsf_DNA_C5-MeTrfase_1_euk,pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC - no_errors DNMT1 HGNC ENSG00000130816 58 0 0.00 56 9 13.85 - - - DRG1 0 genome.wustl.edu 37 22 31822619 31822619 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 22 31822619 31822619 C G SNP DRG1 ENST00000331457 human ensembl 69_37n +1 known missense c.732 p.I244M 0.998 NULL pfam_TGS,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,superfamily_TGS-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom - no_errors DRG1 HGNC ENSG00000185721 324 0 0.00 247 57 18.75 - - - EIF3E 0 genome.wustl.edu 37 8 109215698 109215698 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 8 109215698 109215698 C T SNP EIF3E ENST00000220849 human ensembl 69_37n -1 known missense c.1096 p.E366K 1.000 pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk pfam_eIF3_su6_N,pfam_PCI_dom,smart_PCI_dom,pirsf_Transl_init_fac_3_su6_euk - no_errors EIF3E HGNC ENSG00000104408 332 0 0.00 271 58 17.63 - - - ERC2 0 genome.wustl.edu 37 3 56173584 56173584 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 56173584 56173584 C G SNP ERC2 ENST00000288221 human ensembl 69_37n -1 known missense c.1426 p.E476Q 1.000 pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin pfam_CAZ_cplx_RIM-bd_prot,superfamily_Prefoldin - no_errors ERC2 HGNC ENSG00000187672 203 0 0.00 190 25 11.63 - - - ESYT1 0 genome.wustl.edu 37 12 56522358 56522358 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 56522358 56522358 C T SNP ESYT1 ENST00000267113 human ensembl 69_37n +1 known silent c.255 p.L85 1.000 NULL pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,prints_C2_dom,pfscan_C2_membr_targeting - no_errors ESYT1 HGNC ENSG00000139641 83 0 0.00 51 8 13.56 - - - ETF1 0 genome.wustl.edu 37 5 137846256 137846256 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 137846256 137846256 C G SNP ETF1 ENST00000360541 human ensembl 69_37n -1 known missense c.1081 p.E361Q 1.000 pfam_eRF1_3,tigrfam_Peptide_chain-rel_eRF1/aRF1 pfam_eRF1_2,pfam_eRF1_3,pfam_eRF1_1_Pelota,superfamily_Release_factor_eRF1/aRF1_N,tigrfam_Peptide_chain-rel_eRF1/aRF1 - no_errors ETF1 HGNC ENSG00000120705 210 0 0.00 166 32 16.16 - - - ETV3 0 genome.wustl.edu 37 1 157106111 157106111 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 157106111 157106111 C T SNP ETV3 ENST00000368192 human ensembl 69_37n -1 known missense c.34 p.E12K 1.000 NULL pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets - no_errors ETV3 HGNC ENSG00000117036 169 0 0.00 156 27 14.75 - - - EVPL 0 genome.wustl.edu 37 17 74004251 74004251 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 74004251 74004251 C G SNP EVPL ENST00000301607 human ensembl 69_37n -1 known missense c.5035 p.E1679Q 1.000 smart_Plectin_repeat pfam_Plectin_repeat,superfamily_Ferritin/RR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 23 0 0.00 10 5 33.33 - - - EXO1 0 genome.wustl.edu 37 1 242042051 242042052 + Frame_Shift_Ins INS - - T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 242042051 242042052 - T INS EXO1 ENST00000348581 human ensembl 69_37n +1 known frame_shift_ins c.1515_1516 p.C507fs 1.000:1.000 NULL pfam_XPG/RAD2_endonuclease,pfam_XPG_DNA_repair_N,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_Rad_DNA_repair - no_errors EXO1 HGNC ENSG00000174371 180 0 0.00 191 39 16.96 - - - EZH2 0 genome.wustl.edu 37 7 148508733 148508733 + Nonsense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 148508733 148508733 G C SNP EZH2 ENST00000320356 human ensembl 69_37n -1 known nonsense c.1931 p.S644* 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom - no_errors EZH2 HGNC ENSG00000106462 207 0 0.00 111 35 23.97 - - - FAM116A 0 genome.wustl.edu 37 3 57632137 57632137 + Nonsense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 57632137 57632137 G A SNP FAM116A ENST00000311128 human ensembl 69_37n -1 known nonsense c.847 p.Q283* 1.000 pfam_Afi1_N,pfam_DENN_dom pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom - no_errors FAM116A HGNC ENSG00000174839 66 0 0.00 47 8 14.55 - - - FAM155A 0 genome.wustl.edu 37 13 108518200 108518200 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 13 108518200 108518200 C T SNP FAM155A ENST00000375915 human ensembl 69_37n -1 known missense c.745 p.D249N 1.000 NULL NULL - no_errors FAM155A HGNC ENSG00000204442 53 0 0.00 33 6 15.38 - - - FAM214A 0 genome.wustl.edu 37 15 52901363 52901363 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 52901363 52901363 C G SNP FAM214A ENST00000261844 human ensembl 69_37n -1 known missense c.1748 p.R583T 1.000 NULL NULL - no_errors FAM214A HGNC ENSG00000047346 105 0 0.00 117 22 15.83 - - - FBXO21 0 genome.wustl.edu 37 12 117603392 117603392 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 117603392 117603392 C T SNP FBXO21 ENST00000550180 human ensembl 69_37n -1 novel missense c.874 p.E292K 0.872 NULL pfam_Hemimethylated_DNA-bd_dom,superfamily_Hemimethylated_DNA-bd_dom,tigrfam_Hemimethylated_DNA-bd_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region FBXO21 HGNC ENSG00000135108 74 0 0.00 39 15 27.78 - - - FBXO3 0 genome.wustl.edu 37 11 33790504 33790504 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 11 33790504 33790504 G C SNP FBXO3 ENST00000265651 human ensembl 69_37n -1 known missense c.251 p.S84C 1.000 superfamily_F-box_dom_cyclin-like pfam_ApaG_domain,pfam_F-box_dom_cyclin-like,superfamily_ApaG_domain,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_Cell_wall_assmbl_KNR4-like,pfscan_ApaG_domain,pfscan_F-box_dom_cyclin-like - no_errors FBXO3 HGNC ENSG00000110429 319 0 0.00 212 81 27.65 - - - FKTN 0 genome.wustl.edu 37 9 108370197 108370197 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 108370197 108370197 G C SNP FKTN ENST00000223528 human ensembl 69_37n +1 known missense c.745 p.E249Q 1.000 superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom pfam_LicD,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom - no_errors FKTN HGNC ENSG00000106692 171 0 0.00 113 21 15.67 - - - FLJ35390 0 genome.wustl.edu 37 7 44080613 44080613 + RNA SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 44080613 44080613 C T SNP FLJ35390 ENST00000416824 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors AC017116.8 Clone_based_vega_gene ENSG00000235314 71 0 0.00 50 8 13.79 - - - FLNC 0 genome.wustl.edu 37 7 128491678 128491678 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 128491678 128491678 C G SNP FLNC ENST00000325888 human ensembl 69_37n +1 known missense c.5838 p.I1946M 1.000 superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FLNC HGNC ENSG00000128591 19 0 0.00 10 5 33.33 - - - FRY 0 genome.wustl.edu 37 13 32721440 32721440 + Nonsense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 13 32721440 32721440 C T SNP FRY ENST00000380250 human ensembl 69_37n +1 known nonsense c.1201 p.R401* 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors FRY HGNC ENSG00000073910 164 0 0.00 81 45 35.71 - - - FSBP 0 genome.wustl.edu 37 8 95423541 95423541 + Nonsense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 8 95423541 95423541 G C SNP FSBP ENST00000517506 human ensembl 69_37n -1 known nonsense c.377 p.S126* 0.000 NULL NULL - no_errors FSBP HGNC ENSG00000265817 183 0 0.00 91 37 28.91 - - - FTSJD2 0 genome.wustl.edu 37 6 37447030 37447030 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 37447030 37447030 C T SNP FTSJD2 ENST00000373451 human ensembl 69_37n +1 known missense c.2374 p.H792Y 1.000 NULL pfam_rRNA_MeTrfase_FtsJ_dom,pfam_G_patch_dom,smart_G_patch_dom,smart_WW_Rsp5_WWP,pfscan_G_patch_dom - no_errors FTSJD2 HGNC ENSG00000137200 81 0 0.00 46 15 24.59 - - - GABRB3 0 genome.wustl.edu 37 15 26866582 26866582 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 26866582 26866582 C T SNP GABRB3 ENST00000299267 human ensembl 69_37n -1 known missense c.340 p.D114N 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,prints_GABAAb_rcpt,prints_Neur_channel,prints_GABBAg_rcpt,tigrfam_Neur_channel - no_errors GABRB3 HGNC ENSG00000166206 125 0 0.00 65 24 26.97 - - - GBE1 0 genome.wustl.edu 37 3 81692075 81692075 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 81692075 81692075 G A SNP GBE1 ENST00000429644 human ensembl 69_37n -1 known silent c.849 p.V283 1.000 pfam_Glyco_hydro_13_cat_dom,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_13_sub_cat_dom pfam_A-amylase_b_C,pfam_Glyco_hydro_13_cat_dom,pfam_Glyco_hydro_13_N,superfamily_Glycoside_hydrolase_SF,superfamily_Ig_E-set,smart_Glyco_hydro_13_sub_cat_dom - no_errors GBE1 HGNC ENSG00000114480 131 0 0.00 70 23 24.73 - - - GCC2 0 genome.wustl.edu 37 2 109088057 109088057 + Missense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 109088057 109088057 C A SNP GCC2 ENST00000309863 human ensembl 69_37n +1 known missense c.2272 p.Q758K 1.000 NULL pfam_GRIP,superfamily_GRIP,superfamily_tRNA-bd_arm,smart_GRIP,pfscan_GRIP - no_errors GCC2 HGNC ENSG00000135968 110 0 0.00 83 25 23.15 - - - GLYCTK 0 genome.wustl.edu 37 3 52327124 52327124 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 52327124 52327124 G C SNP GLYCTK ENST00000436784 human ensembl 69_37n +1 known missense c.1554 p.L518F 0.964 NULL pfam_MOFRL - no_errors GLYCTK HGNC ENSG00000168237 56 0 0.00 22 4 15.38 - - - GMFB 0 genome.wustl.edu 37 14 54947649 54947649 + Nonsense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 54947649 54947649 G A SNP GMFB ENST00000358056 human ensembl 69_37n -1 known nonsense c.226 p.Q76* 1.000 pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta - no_errors GMFB HGNC ENSG00000197045 195 1 0.51 168 27 13.85 - - - GNPTAB 0 genome.wustl.edu 37 12 102153831 102153831 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 102153831 102153831 C T SNP GNPTAB ENST00000299314 human ensembl 69_37n -1 known missense c.3226 p.E1076K 1.000 NULL pfam_DMAP1-bd,pfam_Notch_dom,pfam_DUF3184,superfamily_Notch_dom,smart_Notch_dom,pfscan_EF_HAND_2,pfscan_Notch_dom - no_errors GNPTAB HGNC ENSG00000111670 245 0 0.00 171 66 27.85 - - - GPR64 0 genome.wustl.edu 37 X 19027881 19027881 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 X 19027881 19027881 C T SNP GPR64 ENST00000379869 human ensembl 69_37n -1 known missense c.1285 p.D429N 1.000 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 211 0 0.00 124 42 25.30 - - - GREB1 0 genome.wustl.edu 37 2 11720882 11720882 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 11720882 11720882 C T SNP GREB1 ENST00000234142 human ensembl 69_37n +1 known silent c.825 p.F275 1.000 NULL NULL - no_errors GREB1 HGNC ENSG00000196208 58 0 0.00 50 8 13.79 - - - GTF2H3 0 genome.wustl.edu 37 12 124144425 124144425 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 124144425 124144425 C T SNP GTF2H3 ENST00000543341 human ensembl 69_37n +1 known silent c.768 p.F256 1.000 pfam_TF_Tfb4,tigrfam_TF_Tfb4 pfam_TF_Tfb4,tigrfam_TF_Tfb4 - no_errors GTF2H3 HGNC ENSG00000111358 216 0 0.00 136 50 26.88 - - - HDLBP 0 genome.wustl.edu 37 2 242186244 242186244 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 242186244 242186244 C G SNP HDLBP ENST00000310931 human ensembl 69_37n -1 known missense c.1873 p.E625Q 1.000 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 109 0 0.00 53 18 25.35 - - - HIST1H2AB 0 genome.wustl.edu 37 6 26033520 26033520 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 26033520 26033520 C T SNP HIST1H2AB ENST00000259791 human ensembl 69_37n -1 known missense c.277 p.E93K 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST1H2AB HGNC ENSG00000137259 40 0 0.00 19 5 20.83 - - - HLX 0 genome.wustl.edu 37 1 221054582 221054582 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 221054582 221054582 C G SNP HLX ENST00000366903 human ensembl 69_37n +1 known silent c.639 p.L213 0.927 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa - no_errors HLX HGNC ENSG00000136630 121 0 0.00 112 21 15.79 - - - HMCN1 0 genome.wustl.edu 37 1 186113455 186113455 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 186113455 186113455 G A SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known missense c.14075 p.C4692Y 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 80 0 0.00 50 33 39.76 - - - HOXA2 0 genome.wustl.edu 37 7 27140466 27140466 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 27140466 27140466 G A SNP HOXA2 ENST00000222718 human ensembl 69_37n -1 known missense c.1010 p.S337L 1.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors HOXA2 HGNC ENSG00000105996 50 0 0.00 22 4 15.38 - - - HSPA4 0 genome.wustl.edu 37 5 132403197 132403197 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 132403197 132403197 C G SNP HSPA4 ENST00000304858 human ensembl 69_37n +1 known missense c.254 p.S85C 0.974 pfam_Hsp_70_fam pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA4 HGNC ENSG00000170606 214 0 0.00 130 42 24.28 - - - HTR2A 0 genome.wustl.edu 37 13 47409694 47409694 + Missense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 13 47409694 47409694 C A SNP HTR2A ENST00000378688 human ensembl 69_37n -1 known missense c.694 p.D232Y 0.888 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_5HT2A_rcpt,prints_7TM_GPCR_Rhodpsn,prints_5HT_rcpt - no_errors HTR2A HGNC ENSG00000102468 58 0 0.00 29 9 23.68 - - - HUWE1 0 genome.wustl.edu 37 X 53661226 53661226 + Missense_Mutation SNP A A T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 X 53661226 53661226 A T SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.529 p.F177I 1.000 pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 213 0 0.00 131 57 30.32 - - - HYDIN 0 genome.wustl.edu 37 16 70969882 70969882 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 16 70969882 70969882 C T SNP HYDIN ENST00000316490 human ensembl 69_37n -1 known missense c.7128 p.M2376I 0.000 NULL superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 39 0 0.00 25 7 21.88 - - - IARS 0 genome.wustl.edu 37 9 95033329 95033329 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 95033329 95033329 C G SNP IARS ENST00000375643 human ensembl 69_37n -1 known missense c.1143 p.L381F 0.993 pfam_aa-tRNA-synth_Ia,superfamily_Val/Leu/Ile-tRNA-synth_edit,tigrfam_Ile-tRNA-synt pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS HGNC ENSG00000196305 186 0 0.00 103 50 32.68 - - - IFNAR1 0 genome.wustl.edu 37 21 34717589 34717589 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 21 34717589 34717589 C T SNP IFNAR1 ENST00000270139 human ensembl 69_37n +1 known silent c.711 p.V237 0.000 superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3,pirsf_Interferon_alpha/beta_rcpt-1 - no_errors IFNAR1 HGNC ENSG00000142166 288 0 0.00 170 61 26.41 - - - IL23R 0 genome.wustl.edu 37 1 67666482 67666482 + Nonsense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 67666482 67666482 C G SNP IL23R ENST00000347310 human ensembl 69_37n +1 known nonsense c.554 p.S185* 0.005 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors IL23R HGNC ENSG00000162594 123 0 0.00 77 14 15.38 - - - INSR 0 genome.wustl.edu 37 19 7163183 7163183 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 7163183 7163183 G A SNP INSR ENST00000302850 human ensembl 69_37n -1 known missense c.1889 p.S630L 0.996 pirsf_Tyr_kinase_insulin-like_rcpt,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom - no_errors INSR HGNC ENSG00000171105 133 0 0.00 78 23 22.77 - - - KAL1 0 genome.wustl.edu 37 X 8591691 8591691 + Missense_Mutation SNP T T G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 X 8591691 8591691 T G SNP KAL1 ENST00000262648 human ensembl 69_37n -1 known missense c.276 p.E92D 0.007 NULL pfam_Fibronectin_type3,pfam_Whey_acidic_protein_4-diS_core,superfamily_Fibronectin_type3,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,smart_Fibronectin_type3,pfscan_Fibronectin_type3,prints_4-disulphide_core - no_errors KAL1 HGNC ENSG00000011201 219 0 0.00 118 44 27.16 - - - KCNH5 0 genome.wustl.edu 37 14 63473099 63473099 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 63473099 63473099 G A SNP KCNH5 ENST00000322893 human ensembl 69_37n -1 known silent c.289 p.L97 1.000 pfam_PAS_fold,smart_PAC,pfscan_PAS-assoc_C,tigrfam_PAS pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_cNMP-bd_dom,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,pfscan_cNMP-bd_dom,pfscan_PAS-assoc_C,tigrfam_PAS - no_errors KCNH5 HGNC ENSG00000140015 237 0 0.00 142 43 23.24 - - - KIAA0196 0 genome.wustl.edu 37 8 126073342 126073342 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 8 126073342 126073342 C T SNP KIAA0196 ENST00000318410 human ensembl 69_37n -1 known silent c.1503 p.L501 0.949 pfam_WASH_strumpellin pfam_WASH_strumpellin,superfamily_Ig_E-set - no_errors KIAA0196 HGNC ENSG00000164961 229 0 0.00 155 30 16.22 - - - KIF13A 0 genome.wustl.edu 37 6 17855684 17855684 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 17855684 17855684 G C SNP KIF13A ENST00000259711 human ensembl 69_37n -1 known missense c.478 p.L160V 1.000 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF13A HGNC ENSG00000137177 112 0 0.00 65 22 25.29 - - - KIF4A 0 genome.wustl.edu 37 X 69615617 69615617 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 X 69615617 69615617 G C SNP KIF4A ENST00000374403 human ensembl 69_37n +1 known missense c.2329 p.D777H 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF4A HGNC ENSG00000090889 109 0 0.00 83 25 23.15 - - - KIF5B 0 genome.wustl.edu 37 10 32322814 32322814 + Nonsense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 10 32322814 32322814 C A SNP KIF5B ENST00000302418 human ensembl 69_37n -1 known nonsense c.1264 p.E422* 1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF5B HGNC ENSG00000170759 398 0 0.00 287 82 22.22 - - - KRT71 0 genome.wustl.edu 37 12 52943869 52943869 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 52943869 52943869 C T SNP KRT71 ENST00000267119 human ensembl 69_37n -1 known silent c.600 p.V200 0.940 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT71 HGNC ENSG00000139648 101 0 0.00 76 24 24.00 - - - KRT84 0 genome.wustl.edu 37 12 52778990 52778990 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 52778990 52778990 C G SNP KRT84 ENST00000257951 human ensembl 69_37n -1 known missense c.380 p.G127A 1.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_II,prints_Keratin_I - no_errors KRT84 HGNC ENSG00000161849 70 0 0.00 57 10 14.93 - - - KTN1 0 genome.wustl.edu 37 14 56116507 56116507 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 56116507 56116507 C T SNP KTN1 ENST00000395309 human ensembl 69_37n +1 known missense c.2381 p.S794F 0.999 NULL NULL - no_errors KTN1 HGNC ENSG00000126777 330 0 0.00 283 47 14.24 - - - LAIR1 0 genome.wustl.edu 37 19 54871673 54871673 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 54871673 54871673 G C SNP LAIR1 ENST00000391742 human ensembl 69_37n -1 known missense c.371 p.S124C 0.000 NULL smart_Ig_sub - no_errors LAIR1 HGNC ENSG00000167613 108 0 0.00 78 14 15.22 - - - LAMC1 0 genome.wustl.edu 37 1 183094653 183094653 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 183094653 183094653 C G SNP LAMC1 ENST00000258341 human ensembl 69_37n +1 known missense c.2769 p.F923L 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_Laminin_B_type_IV,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMC1 HGNC ENSG00000135862 52 0 0.00 62 13 17.33 - - - LMAN2 0 genome.wustl.edu 37 5 176778543 176778543 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 176778543 176778543 G C SNP LMAN2 ENST00000303127 human ensembl 69_37n -1 known missense c.106 p.L36V 0.129 NULL pfam_Lectin_leg,superfamily_ConA-like_lec_gl - no_errors LMAN2 HGNC ENSG00000169223 38 0 0.00 20 4 16.67 - - - LPO 0 genome.wustl.edu 37 17 56321423 56321423 + Missense_Mutation SNP T T G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 56321423 56321423 T G SNP LPO ENST00000262290 human ensembl 69_37n +1 known missense c.145 p.F49V 1.000 NULL pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors LPO HGNC ENSG00000167419 36 0 0.00 70 17 19.54 - - - LRRFIP1 0 genome.wustl.edu 37 2 238664814 238664814 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 238664814 238664814 G C SNP LRRFIP1 ENST00000392000 human ensembl 69_37n +1 known missense c.731 p.R244T 1.000 pfam_Leu-rich_rep_flightless-int_pr pfam_Leu-rich_rep_flightless-int_pr - no_errors LRRFIP1 HGNC ENSG00000124831 91 0 0.00 68 10 12.82 - - - MED13 0 genome.wustl.edu 37 17 60040145 60040145 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 60040145 60040145 G A SNP MED13 ENST00000397786 human ensembl 69_37n -1 known missense c.5032 p.P1678S 1.000 pfam_Mediator_Med13 pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun - no_errors MED13 HGNC ENSG00000108510 140 0 0.00 108 17 13.60 - - - MEST 0 genome.wustl.edu 37 7 130140330 130140330 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 130140330 130140330 C G SNP MEST ENST00000223215 human ensembl 69_37n +1 known missense c.604 p.P202A 1.000 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1,pfam_DUF1057,prints_Epox_hydrolase-like - no_errors MEST HGNC ENSG00000106484 124 0 0.00 69 17 19.77 - - - MFAP1 0 genome.wustl.edu 37 15 44105315 44105315 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 44105315 44105315 C G SNP MFAP1 ENST00000267812 human ensembl 69_37n -1 known missense c.757 p.E253Q 1.000 pfam_MFAP1_C pfam_MFAP1_C - no_errors MFAP1 HGNC ENSG00000140259 296 0 0.00 269 32 10.63 - - - MGA 0 genome.wustl.edu 37 15 42057208 42057208 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 42057208 42057208 C G SNP MGA ENST00000219905 human ensembl 69_37n +1 known silent c.7869 p.L2623 0.970 NULL pfam_TF_T-box,pfam_HLH_DNA-bd,superfamily_p53-like_TF_DNA-bd,superfamily_HLH_DNA-bd,smart_TF_T-box,smart_HLH_DNA-bd,prints_TF_T-box,pfscan_HLH_DNA-bd,pfscan_TF_T-box - no_errors MGA HGNC ENSG00000174197 111 0 0.00 74 18 19.57 - - - MIR193B 0 genome.wustl.edu 37 16 14397846 14397846 + RNA SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 16 14397846 14397846 G C SNP MIR193B ENST00000384907 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR193B HGNC ENSG00000207639 173 0 0.00 129 15 10.42 - - - MIR522 0 genome.wustl.edu 37 19 54254548 54254548 + RNA SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 54254548 54254548 G C SNP MIR522 ENST00000385071 human ensembl 69_37n +1 known rna NULL NULL 0.069 - - - no_errors MIR522 HGNC ENSG00000207806 134 0 0.00 146 26 15.12 - - - MRPS35 0 genome.wustl.edu 37 12 27877070 27877070 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 27877070 27877070 C T SNP MRPS35 ENST00000081029 human ensembl 69_37n +1 known missense c.473 p.S158L 1.000 pfam_Ribosomal_S24/S35_mit pfam_Ribosomal_S24/S35_mit - no_errors MRPS35 HGNC ENSG00000061794 130 0 0.00 83 23 21.50 - - - MTMR6 0 genome.wustl.edu 37 13 25827981 25827981 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 13 25827981 25827981 G A SNP MTMR6 ENST00000381801 human ensembl 69_37n -1 known missense c.1267 p.L423F 1.000 smart_Tyr_Pase_cat pfam_Myotub-related,smart_Tyr_Pase_cat - no_errors MTMR6 HGNC ENSG00000139505 116 0 0.00 82 35 29.91 - - - MUC17 0 genome.wustl.edu 37 7 100678770 100678770 + Nonsense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 100678770 100678770 C G SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known nonsense c.4073 p.S1358* 0.003 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 126 0 0.00 126 24 16.00 - - - MUC2 0 genome.wustl.edu 37 11 1092240 1092240 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 11 1092240 1092240 G A SNP MUC2 ENST00000441003 human ensembl 69_37n +1 known silent c.4059 p.Q1353 0.545 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 148 0 0.00 92 30 24.59 - - - MYH15 0 genome.wustl.edu 37 3 108112937 108112937 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 108112937 108112937 C T SNP MYH15 ENST00000273353 human ensembl 69_37n -1 known missense c.5260 p.E1754K 0.991 pfam_Myosin_tail pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYH15 HGNC ENSG00000144821 79 0 0.00 39 21 35.00 - - - MYH4 0 genome.wustl.edu 37 17 10366411 10366411 + Silent SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 10366411 10366411 G C SNP MYH4 ENST00000255381 human ensembl 69_37n -1 known silent c.900 p.L300 0.408 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH4 HGNC ENSG00000264424 285 0 0.00 133 45 25.28 - - - MYO16 0 genome.wustl.edu 37 13 109777624 109777624 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 13 109777624 109777624 G A SNP MYO16 ENST00000356711 human ensembl 69_37n +1 known missense c.3634 p.D1212N 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO16 HGNC ENSG00000041515 76 0 0.00 38 13 25.49 - - - MYOM2 0 genome.wustl.edu 37 8 2000284 2000284 + Missense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 8 2000284 2000284 C A SNP MYOM2 ENST00000262113 human ensembl 69_37n +1 known missense c.116 p.S39Y 0.001 NULL pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors MYOM2 HGNC ENSG00000036448 45 0 0.00 20 8 27.59 - - - MYRIP 0 genome.wustl.edu 37 3 40291811 40291811 + Missense_Mutation SNP G G T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 40291811 40291811 G T SNP MYRIP ENST00000302541 human ensembl 69_37n +1 known missense c.2361 p.R787S 0.999 pfam_Myelin-assoc_OBP pfam_Myelin-assoc_OBP,superfamily_Znf_FYVE_PHD,pfscan_Rab-bd_domain - no_errors MYRIP HGNC ENSG00000170011 184 0 0.00 97 35 26.52 - - - NAT9 0 genome.wustl.edu 37 17 72767888 72767888 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 72767888 72767888 C T SNP NAT9 ENST00000357814 human ensembl 69_37n -1 known missense c.599 p.R200K 0.480 NULL pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase - no_errors NAT9 HGNC ENSG00000109065 24 0 0.00 11 13 54.17 - - - NAV1 0 genome.wustl.edu 37 1 201759887 201759887 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 201759887 201759887 C G SNP NAV1 ENST00000367296 human ensembl 69_37n +1 known missense c.3314 p.S1105C 0.942 NULL smart_AAA+_ATPase - no_errors NAV1 HGNC ENSG00000134369 132 0 0.00 161 125 43.71 - - - NBEAL1 0 genome.wustl.edu 37 2 203990152 203990152 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 203990152 203990152 G C SNP NBEAL1 ENST00000449802 human ensembl 69_37n +1 known missense c.2673 p.Q891H 0.978 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NBEAL1 HGNC ENSG00000144426 175 0 0.00 110 40 26.67 - - - NBR1 0 genome.wustl.edu 37 17 41362092 41362092 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 41362092 41362092 G A SNP NBR1 ENST00000341165 human ensembl 69_37n +1 known silent c.2900 p.*967 1.000 NULL pfam_OPR_PB1,pfam_Znf_ZZ,superfamily_UBA-like,smart_OPR_PB1,smart_Znf_ZZ,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_ZZ - no_errors NBR1 HGNC ENSG00000188554 63 0 0.00 27 13 32.50 - - - NDNL2 0 genome.wustl.edu 37 15 29561244 29561244 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 29561244 29561244 G A SNP NDNL2 ENST00000332303 human ensembl 69_37n -1 known silent c.666 p.L222 0.129 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors NDNL2 HGNC ENSG00000185115 47 0 0.00 37 6 13.95 - - - NF1 0 genome.wustl.edu 37 17 29667654 29667654 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 29667654 29667654 C G SNP NF1 ENST00000358273 human ensembl 69_37n +1 known missense c.7053 p.F2351L 1.000 superfamily_ARM-type_fold pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP - no_errors NF1 HGNC ENSG00000196712 117 0 0.00 56 24 30.00 - - - NPC1 0 genome.wustl.edu 37 18 21127971 21127971 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 18 21127971 21127971 C G SNP NPC1 ENST00000269228 human ensembl 69_37n -1 known missense c.1756 p.E586Q 1.000 pfam_Patched,tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 87 0 0.00 64 29 31.18 - - - NTRK2 0 genome.wustl.edu 37 9 87342871 87342871 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 87342871 87342871 G A SNP NTRK2 ENST00000277120 human ensembl 69_37n +1 known missense c.1156 p.D386N 0.870 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_2 - no_errors NTRK2 HGNC ENSG00000148053 100 0 0.00 74 25 25.25 - - - NUP160 0 genome.wustl.edu 37 11 47828648 47828648 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 11 47828648 47828648 G C SNP NUP160 ENST00000378460 human ensembl 69_37n -1 known missense c.2420 p.S807C 0.993 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 217 0 0.00 161 34 17.44 - - - NUP210L 0 genome.wustl.edu 37 1 154072563 154072563 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 154072563 154072563 G C SNP NUP210L ENST00000368559 human ensembl 69_37n -1 known missense c.1876 p.L626V 0.001 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 156 0 0.00 132 36 21.43 - - - OR10G8 0 genome.wustl.edu 37 11 123901064 123901064 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 11 123901064 123901064 C T SNP OR10G8 ENST00000431524 human ensembl 69_37n +1 known silent c.735 p.I245 0.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR10G8 HGNC ENSG00000234560 162 0 0.00 49 32 39.51 - - - OR4D10 0 genome.wustl.edu 37 11 59245488 59245488 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 11 59245488 59245488 G C SNP OR4D10 ENST00000530162 human ensembl 69_37n +1 known missense c.586 p.E196Q 0.015 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4D10 HGNC ENSG00000254466 120 0 0.00 65 22 25.29 - - - OR7C1 0 genome.wustl.edu 37 19 14910073 14910073 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 14910073 14910073 C G SNP OR7C1 ENST00000248073 human ensembl 69_37n -1 known silent c.876 p.L292 0.420 prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR7C1 HGNC ENSG00000127530 56 0 0.00 56 11 16.42 - - - OTOGL 0 genome.wustl.edu 37 12 80626730 80626730 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 80626730 80626730 C G SNP OTOGL ENST00000458043 human ensembl 69_37n +1 known missense c.643 p.L215V 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C - no_errors OTOGL HGNC ENSG00000165899 121 0 0.00 102 33 24.44 - - - PARP6 0 genome.wustl.edu 37 15 72545819 72545819 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 72545819 72545819 C G SNP PARP6 ENST00000287196 human ensembl 69_37n -1 known missense c.1218 p.Q406H 1.000 pfscan_Poly(ADP-ribose)pol_cat_dom pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom - no_errors PARP6 HGNC ENSG00000137817 146 0 0.00 95 19 16.67 - - - PCDHAC2 0 genome.wustl.edu 37 5 140358575 140358575 + Silent SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 140358575 140358575 G C SNP PCDHAC2 ENST00000289269 human ensembl 69_37n +1 known silent c.2607 p.L869 0.997 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHAC2 HGNC ENSG00000243232 66 0 0.00 40 12 23.08 - - - PCDHB8 0 genome.wustl.edu 37 5 140560003 140560003 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 140560003 140560003 C T SNP PCDHB8 ENST00000239444 human ensembl 69_37n +1 known silent c.2388 p.F796 0.001 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 111 0 0.00 85 16 15.84 - - - PCDHGA11 0 genome.wustl.edu 37 5 140801497 140801497 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 140801497 140801497 G C SNP PCDHGA11 ENST00000398587 human ensembl 69_37n +1 known missense c.703 p.D235H 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHGA11 HGNC ENSG00000253873 23 0 0.00 19 6 24.00 - - - PCYOX1L 0 genome.wustl.edu 37 5 148743738 148743738 + Missense_Mutation SNP G G T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 148743738 148743738 G T SNP PCYOX1L ENST00000274569 human ensembl 69_37n +1 known missense c.435 p.Q145H 1.000 pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase pfam_Prenylcys_lyase,pirsf_Prenylcysteine_Oxase - no_errors PCYOX1L HGNC ENSG00000145882 123 0 0.00 68 20 22.73 - - - PES1 0 genome.wustl.edu 37 22 30975192 30975192 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 22 30975192 30975192 C T SNP PES1 ENST00000354694 human ensembl 69_37n -1 known missense c.1453 p.E485K 0.985 NULL pfam_Pescadillo,pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors PES1 HGNC ENSG00000100029 109 0 0.00 88 16 15.38 - - - PEX5L 0 genome.wustl.edu 37 3 179597907 179597907 + Missense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 179597907 179597907 C A SNP PEX5L ENST00000467460 human ensembl 69_37n -1 known missense c.315 p.L105F 1.000 NULL pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors PEX5L HGNC ENSG00000114757 255 0 0.00 173 62 26.38 - - - PIBF1 0 genome.wustl.edu 37 13 73491243 73491244 + Frame_Shift_Ins INS - - T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 13 73491243 73491244 - T INS PIBF1 ENST00000326291 human ensembl 69_37n +1 known frame_shift_ins c.1669_1670 p.S559fs 1.000:1.000 NULL superfamily_t-SNARE - no_errors PIBF1 HGNC ENSG00000083535 299 0 0.00 121 54 30.86 - - - PIK3C2G 0 genome.wustl.edu 37 12 18499655 18499655 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 18499655 18499655 G C SNP PIK3C2G ENST00000538779 human ensembl 69_37n +1 known missense c.1510 p.D504H 1.000 NULL pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_Phox,pfam_PI3K_Ras-bd_dom,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,smart_C2_Ca-dep,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3C2G HGNC ENSG00000139144 180 0 0.00 141 47 25.00 - - - PKN3 0 genome.wustl.edu 37 9 131476875 131476875 + Nonsense_Mutation SNP G G T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 131476875 131476875 G T SNP PKN3 ENST00000291906 human ensembl 69_37n +1 known nonsense c.1516 p.E506* 0.941 NULL pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN3 HGNC ENSG00000160447 49 0 0.00 34 8 19.05 - - - PKN3 0 genome.wustl.edu 37 9 131479161 131479161 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 131479161 131479161 G A SNP PKN3 ENST00000291906 human ensembl 69_37n +1 known missense c.1944 p.M648I 1.000 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_dom,pfam_HR1_rho-bd,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_HR1_rho-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_HR1_rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors PKN3 HGNC ENSG00000160447 94 0 0.00 56 19 25.33 - - - PLEKHA4 0 genome.wustl.edu 37 19 49348692 49348692 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 49348692 49348692 G A SNP PLEKHA4 ENST00000263265 human ensembl 69_37n -1 known missense c.1678 p.P560S 0.997 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PLEKHA4 HGNC ENSG00000105559 70 0 0.00 56 15 21.13 - - - PLG 0 genome.wustl.edu 37 6 161128786 161128786 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 161128786 161128786 G A SNP PLG ENST00000308192 human ensembl 69_37n +1 known silent c.240 p.R80 1.000 pirsf_Pept_S1A_plasmin,pfam_PAN-1_domain,superfamily_Kringle-like,smart_Pan_app,pfscan_Pan_app pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors PLG HGNC ENSG00000122194 351 0 0.00 218 52 19.26 - - - PLG 0 genome.wustl.edu 37 6 161160215 161160215 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 161160215 161160215 G C SNP PLG ENST00000308192 human ensembl 69_37n +1 known missense c.1993 p.D665H 0.999 pirsf_Pept_S1A_plasmin,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_plasmin,pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6 - no_errors PLG HGNC ENSG00000122194 132 0 0.00 82 10 10.87 - - - PML 0 genome.wustl.edu 37 15 74324915 74324915 + Nonsense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 74324915 74324915 C T SNP PML ENST00000565239 human ensembl 69_37n +1 novel nonsense c.571 p.R191* 0.028 pfam_DUF3583 pfam_DUF3583 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PML HGNC ENSG00000140464 17 0 0.00 13 5 27.78 - - - PNCK 0 genome.wustl.edu 37 X 152937598 152937598 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 X 152937598 152937598 G A SNP PNCK ENST00000433470 human ensembl 69_37n -1 known missense c.278 p.S93F 0.976 NULL pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom - no_errors PNCK HGNC ENSG00000130822 29 0 0.00 16 7 30.43 - - - PRMT2 0 genome.wustl.edu 37 21 48080771 48080771 + Nonsense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 21 48080771 48080771 C G SNP PRMT2 ENST00000355680 human ensembl 69_37n +1 known nonsense c.857 p.S286* 0.998 pfam_Arg_MeTrfase pfam_SH3_domain,pfam_Arg_MeTrfase,pfam_SH3_2,pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_tRNA_Trfase_Trm5/Tyw2,superfamily_SH3_domain,smart_SH3_domain,prints_SH3_domain,pfscan_SH3_domain - no_errors PRMT2 HGNC ENSG00000160310 194 0 0.00 138 42 23.33 - - - PTEN 0 genome.wustl.edu 37 10 89692900 89692900 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 10 89692900 89692900 G C SNP PTEN ENST00000371953 human ensembl 69_37n +1 known missense c.384 p.K128N 1.000 pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 211 0 0.00 92 44 32.35 - - - PTPN2 0 genome.wustl.edu 37 18 12836858 12836858 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 18 12836858 12836858 C G SNP PTPN2 ENST00000309660 human ensembl 69_37n -1 known missense c.193 p.E65Q 1.000 pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_non-rcpt_typ-1/2,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN2 HGNC ENSG00000175354 304 0 0.00 158 48 23.19 - - - RAC2 0 genome.wustl.edu 37 22 37628023 37628023 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 22 37628023 37628023 G A SNP RAC2 ENST00000249071 human ensembl 69_37n -1 known silent c.237 p.L79 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,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 RAC2 HGNC ENSG00000128340 43 0 0.00 19 6 24.00 - - - RAD50 0 genome.wustl.edu 37 5 131925407 131925407 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 131925407 131925407 G A SNP RAD50 ENST00000265335 human ensembl 69_37n +1 known missense c.1330 p.E444K 1.000 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 179 0 0.00 138 31 18.34 - - - RASA3 0 genome.wustl.edu 37 13 114781703 114781703 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 13 114781703 114781703 C G SNP RASA3 ENST00000334062 human ensembl 69_37n -1 known missense c.1251 p.L417F 0.982 pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,prints_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP - no_errors RASA3 HGNC ENSG00000185989 195 0 0.00 142 33 18.86 - - - RC3H2 0 genome.wustl.edu 37 9 125616341 125616341 + Nonsense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 125616341 125616341 G A SNP RC3H2 ENST00000357244 human ensembl 69_37n -1 known nonsense c.3007 p.Q1003* 1.000 NULL pfam_Znf_CCCH,smart_Znf_RING,smart_Znf_CCCH,pfscan_Znf_RING - no_errors RC3H2 HGNC ENSG00000056586 176 0 0.00 88 45 33.83 - - - RDH11 0 genome.wustl.edu 37 14 68156953 68156953 + Nonsense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 68156953 68156953 G A SNP RDH11 ENST00000381346 human ensembl 69_37n -1 known nonsense c.640 p.Q214* 0.495 pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR - no_errors RDH11 HGNC ENSG00000072042 112 0 0.00 76 9 10.47 - - - ROBO1 0 genome.wustl.edu 37 3 78710205 78710205 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 78710205 78710205 G C SNP ROBO1 ENST00000464233 human ensembl 69_37n -1 known missense c.2295 p.I765M 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors ROBO1 HGNC ENSG00000169855 251 0 0.00 165 45 21.43 - - - RSAD1 0 genome.wustl.edu 37 17 48557311 48557311 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 48557311 48557311 G C SNP RSAD1 ENST00000258955 human ensembl 69_37n +1 known missense c.340 p.E114Q 1.000 pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel pfam_HemN_C_dom,pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_Coprogen_oxidase_HemN-rel - no_errors RSAD1 HGNC ENSG00000136444 52 0 0.00 164 23 12.23 - - - RTL1 0 genome.wustl.edu 37 14 101347967 101347967 + Missense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 101347967 101347967 C A SNP RTL1 ENST00000534062 human ensembl 69_37n -1 known missense c.3159 p.M1053I 0.000 NULL pfam_Retrotrans_gag,superfamily_Peptidase_aspartic - no_errors RTL1 HGNC ENSG00000254656 82 0 0.00 34 8 19.05 - - - RYR2 0 genome.wustl.edu 37 1 237713931 237713931 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 237713931 237713931 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.3148 p.E1050K 1.000 pfam_Ryanodine_rcpt,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 194 0 0.00 174 23 11.68 - - - RYR3 0 genome.wustl.edu 37 15 33928729 33928729 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 33928729 33928729 C T SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known silent c.3534 p.F1178 0.827 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,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_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 93 0 0.00 44 15 25.42 - - - S100A13 0 genome.wustl.edu 37 1 153598799 153598799 + Silent SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 153598799 153598799 G C SNP S100A13 ENST00000339556 human ensembl 69_37n -1 known silent c.150 p.L50 1.000 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub - no_errors S100A13 HGNC ENSG00000189171 37 0 0.00 31 9 22.50 - - - SEMA6D 0 genome.wustl.edu 37 15 48059233 48059233 + Splice_Site SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 48059233 48059233 G C SNP SEMA6D ENST00000316364 human ensembl 69_37n +1 known splice_site c.1709-1 e16-1 1.000 - - - no_errors SEMA6D HGNC ENSG00000137872 278 0 0.00 226 59 20.70 - - - SERPINA11 0 genome.wustl.edu 37 14 94912879 94912879 + Nonsense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 94912879 94912879 C A SNP SERPINA11 ENST00000334708 human ensembl 69_37n -1 known nonsense c.706 p.E236* 0.299 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINA11 HGNC ENSG00000186910 96 0 0.00 55 8 12.70 - - - SETDB1 0 genome.wustl.edu 37 1 150933151 150933151 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 150933151 150933151 G C SNP SETDB1 ENST00000271640 human ensembl 69_37n +1 known missense c.2613 p.E871D 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,pfam_Pre-SET_dom,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Tudor,smart_Methyl_CpG_DNA-bd,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Methyl_CpG_DNA-bd,pfscan_SET_dom,pfscan_Pre-SET_dom,pfscan_Post-SET_dom - no_errors SETDB1 HGNC ENSG00000143379 79 0 0.00 69 8 10.39 - - - SGOL2 0 genome.wustl.edu 37 2 201437093 201437093 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 201437093 201437093 G C SNP SGOL2 ENST00000357799 human ensembl 69_37n +1 known missense c.2024 p.R675T 0.000 NULL NULL - no_errors SGOL2 HGNC ENSG00000163535 42 0 0.00 36 11 23.40 - - - SIK3 0 genome.wustl.edu 37 11 116732606 116732606 + Nonsense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 11 116732606 116732606 G A SNP SIK3 ENST00000375300 human ensembl 69_37n -1 known nonsense c.2122 p.Q708* 1.000 NULL pfam_Prot_kinase_cat_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_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom - no_errors SIK3 HGNC ENSG00000160584 70 0 0.00 34 15 30.61 - - - SIPA1L2 0 genome.wustl.edu 37 1 232649933 232649933 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 232649933 232649933 C T SNP SIPA1L2 ENST00000262861 human ensembl 69_37n -1 known missense c.1153 p.E385K 1.000 NULL pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP - no_errors SIPA1L2 HGNC ENSG00000116991 45 0 0.00 59 8 11.94 - - - SLC15A5 0 genome.wustl.edu 37 12 16430463 16430463 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 16430463 16430463 C T SNP SLC15A5 ENST00000344941 human ensembl 69_37n -1 novel missense c.157 p.E53K 1.000 superfamily_MFS_dom_general_subst_transpt pfam_Oligopeptide_transporter,superfamily_MFS_dom_general_subst_transpt - no_errors SLC15A5 HGNC ENSG00000188991 113 0 0.00 83 33 28.45 - - - SLC22A17 0 genome.wustl.edu 37 14 23816808 23816808 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 23816808 23816808 C T SNP SLC22A17 ENST00000206544 human ensembl 69_37n -1 known silent c.1077 p.V359 1.000 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A17 HGNC ENSG00000092096 15 0 0.00 18 4 18.18 - - - SLC4A11 0 genome.wustl.edu 37 20 3210899 3210899 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 20 3210899 3210899 C G SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known missense c.1552 p.E518Q 0.999 pfam_HCO3_transpt_C,prints_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 10 0 0.00 13 4 23.53 - - - SLC6A8 0 genome.wustl.edu 37 X 152958473 152958473 + RNA SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 X 152958473 152958473 C T SNP SLC6A8 ENST00000485324 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SLC6A8 HGNC ENSG00000130821 27 0 0.00 22 6 21.43 - - - SNX2 0 genome.wustl.edu 37 5 122154620 122154620 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 122154620 122154620 G C SNP SNX2 ENST00000379516 human ensembl 69_37n +1 known missense c.1114 p.E372Q 1.000 pfam_Vps5_C pfam_Vps5_C,pfam_Sorting_nexin_N,pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX2 HGNC ENSG00000205302 177 0 0.00 111 26 18.98 - - - SPTA1 0 genome.wustl.edu 37 1 158654937 158654937 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 158654937 158654937 G A SNP SPTA1 ENST00000368148 human ensembl 69_37n -1 known silent c.225 p.I75 0.002 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SPTA1 HGNC ENSG00000163554 180 0 0.00 147 40 21.39 - - - STK17A 0 genome.wustl.edu 37 7 43663366 43663366 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 43663366 43663366 G C SNP STK17A ENST00000319357 human ensembl 69_37n +1 known missense c.799 p.D267H 0.987 pfam_Prot_kinase_cat_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_cat_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors STK17A HGNC ENSG00000164543 247 0 0.00 184 51 21.70 - - - STK17B 0 genome.wustl.edu 37 2 197002326 197002326 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 197002326 197002326 C T SNP STK17B ENST00000263955 human ensembl 69_37n -1 known missense c.964 p.E322K 1.000 superfamily_Kinase-like_dom pfam_Prot_kinase_cat_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_cat_dom - no_errors STK17B HGNC ENSG00000081320 184 0 0.00 97 37 27.61 - - - SVEP1 0 genome.wustl.edu 37 9 113233667 113233667 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 113233667 113233667 G A SNP SVEP1 ENST00000401783 human ensembl 69_37n -1 known missense c.2975 p.S992L 1.000 superfamily_Growth_fac_rcpt pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin - no_errors SVEP1 HGNC ENSG00000165124 124 0 0.00 95 30 24.00 - - - SYCP1 0 genome.wustl.edu 37 1 115420781 115420781 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 115420781 115420781 G C SNP SYCP1 ENST00000369518 human ensembl 69_37n +1 known missense c.868 p.E290Q 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 150 0 0.00 78 43 35.54 - - - SYNE1 0 genome.wustl.edu 37 6 152671773 152671773 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 6 152671773 152671773 C T SNP SYNE1 ENST00000265368 human ensembl 69_37n -1 known missense c.11713 p.D3905N 1.000 pfam_Spectrin_repeat,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE1 HGNC ENSG00000131018 177 0 0.00 85 53 38.41 - - - TANK 0 genome.wustl.edu 37 2 162087994 162087994 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 162087994 162087994 C G SNP TANK ENST00000259075 human ensembl 69_37n +1 known missense c.1033 p.L345V 1.000 NULL NULL - no_errors TANK HGNC ENSG00000136560 65 0 0.00 49 6 10.91 - - - TCF20 0 genome.wustl.edu 37 22 42610881 42610881 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 22 42610881 42610881 G C SNP TCF20 ENST00000359486 human ensembl 69_37n -1 known missense c.431 p.S144C 1.000 NULL smart_Znf_PHD - no_errors TCF20 HGNC ENSG00000100207 29 0 0.00 21 4 16.00 - - - TF 0 genome.wustl.edu 37 3 133476751 133476751 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 133476751 133476751 G C SNP TF ENST00000402696 human ensembl 69_37n +1 known missense c.1009 p.E337Q 0.000 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 pfam_Peptidase_S60,smart_Peptidase_S60,pirsf_Transferrin,prints_Peptidase_S60 - no_errors TF HGNC ENSG00000091513 91 0 0.00 47 19 28.79 - - - THEM5 0 genome.wustl.edu 37 1 151820278 151820278 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 151820278 151820278 C G SNP THEM5 ENST00000368817 human ensembl 69_37n -1 known missense c.636 p.Q212H 1.000 pfam_Thioestr_supf pfam_Thioestr_supf - no_errors THEM5 HGNC ENSG00000196407 95 0 0.00 65 22 25.29 - - - TLR8 0 genome.wustl.edu 37 X 12938975 12938975 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 X 12938975 12938975 G A SNP TLR8 ENST00000218032 human ensembl 69_37n +1 known missense c.1816 p.E606K 0.000 NULL pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR8 HGNC ENSG00000101916 95 0 0.00 73 10 12.05 - - - TMEM132D 0 genome.wustl.edu 37 12 129563234 129563234 + Nonsense_Mutation SNP T T A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 129563234 129563234 T A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known nonsense c.1960 p.K654* 1.000 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 66 0 0.00 39 10 20.41 - - - TMEM196 0 genome.wustl.edu 37 7 19761719 19761719 + Silent SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 7 19761719 19761719 C G SNP TMEM196 ENST00000405764 human ensembl 69_37n -1 known silent c.498 p.L166 0.997 NULL NULL - no_errors TMEM196 HGNC ENSG00000173452 386 0 0.00 245 70 22.22 - - - TMTC2 0 genome.wustl.edu 37 12 83289848 83289848 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 83289848 83289848 C T SNP TMTC2 ENST00000321196 human ensembl 69_37n +1 known silent c.906 p.L302 0.930 pfam_DUF1736 pfam_TPR-1,pfam_TPR_2,pfam_DUF1736,pfam_TPR-4,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC2 HGNC ENSG00000179104 101 0 0.00 86 28 24.56 - - - TNFSF4 0 genome.wustl.edu 37 1 173157704 173157704 + Nonsense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 173157704 173157704 G C SNP TNFSF4 ENST00000281834 human ensembl 69_37n -1 known nonsense c.158 p.S53* 0.001 NULL pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF - no_errors TNFSF4 HGNC ENSG00000117586 230 0 0.00 187 27 12.62 - - - TOP3A 0 genome.wustl.edu 37 17 18205698 18205698 + Nonsense_Mutation SNP C C A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 18205698 18205698 C A SNP TOP3A ENST00000321105 human ensembl 69_37n -1 known nonsense c.694 p.E232* 0.981 pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_2 pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA - no_errors TOP3A HGNC ENSG00000177302 47 0 0.00 25 14 35.90 - - - TRAPPC1 0 genome.wustl.edu 37 17 7834854 7834854 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 7834854 7834854 G C SNP TRAPPC1 ENST00000303731 human ensembl 69_37n -1 known missense c.140 p.S47W 1.000 pfam_Sybindin,superfamily_Longin-like_dom pfam_Sybindin,superfamily_Longin-like_dom - no_errors TRAPPC1 HGNC ENSG00000170043 41 0 0.00 16 4 20.00 - - - TTC3 0 genome.wustl.edu 37 21 38516840 38516840 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 21 38516840 38516840 C T SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known silent c.1788 p.L596 0.578 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Znf_C3HC4_RING-type,superfamily_DEATH-like,smart_TPR_repeat,smart_Znf_RING,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors TTC3 HGNC ENSG00000182670 222 0 0.00 130 43 24.86 - - - TTN 0 genome.wustl.edu 37 2 179584439 179584439 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 179584439 179584439 C T SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.20048 p.R6683K 0.125 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 217 0 0.00 140 31 18.13 - - - TTYH2 0 genome.wustl.edu 37 17 72249933 72249933 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 17 72249933 72249933 G C SNP TTYH2 ENST00000269346 human ensembl 69_37n +1 known missense c.1485 p.E495D 1.000 NULL pfam_Tweety - no_errors TTYH2 HGNC ENSG00000141540 38 0 0.00 25 5 16.67 - - - TYW5 0 genome.wustl.edu 37 2 200797832 200797832 + Silent SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 2 200797832 200797832 G C SNP TYW5 ENST00000354611 human ensembl 69_37n -1 known silent c.906 p.V302 0.961 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 186 1 0.53 103 42 28.97 - - - UACA 0 genome.wustl.edu 37 15 70959869 70959869 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 15 70959869 70959869 C G SNP UACA ENST00000322954 human ensembl 69_37n -1 known missense c.3154 p.E1052Q 0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Prefoldin,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_T_SNARE_dom,prints_Ankyrin_rpt - no_errors UACA HGNC ENSG00000137831 273 0 0.00 185 81 30.45 - - - UHRF1BP1L 0 genome.wustl.edu 37 12 100451418 100451418 + Missense_Mutation SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 12 100451418 100451418 C T SNP UHRF1BP1L ENST00000279907 human ensembl 69_37n -1 known missense c.3355 p.D1119N 1.000 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 266 0 0.00 199 59 22.87 - - - WDFY3 0 genome.wustl.edu 37 4 85758097 85758097 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 4 85758097 85758097 C T SNP WDFY3 ENST00000295888 human ensembl 69_37n -1 known silent c.561 p.Q187 1.000 NULL pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 89 0 0.00 35 12 25.53 - - - WDR3 0 genome.wustl.edu 37 1 118485115 118485115 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 118485115 118485115 C G SNP WDR3 ENST00000349139 human ensembl 69_37n +1 known missense c.1045 p.L349V 1.000 pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors WDR3 HGNC ENSG00000065183 201 0 0.00 94 57 37.75 - - - ZC2HC1C 0 genome.wustl.edu 37 14 75537978 75537978 + Nonstop_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 75537978 75537978 G C SNP ZC2HC1C ENST00000532198 human ensembl 69_37n +1 putative nonstop c.302 p.*101S 0.791 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ZC2HC1C HGNC ENSG00000119703 116 0 0.00 79 16 16.84 - - - ZCCHC9 0 genome.wustl.edu 37 5 80600664 80600664 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 80600664 80600664 G C SNP ZCCHC9 ENST00000254037 human ensembl 69_37n +1 known missense c.88 p.E30Q 0.956 NULL pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC9 HGNC ENSG00000131732 90 0 0.00 46 11 19.30 - - - ZFHX2 0 genome.wustl.edu 37 14 24003176 24003176 + Silent SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 14 24003176 24003176 G C SNP ZFHX2 ENST00000419474 human ensembl 69_37n -1 known silent c.1359 p.L453 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZFHX2 HGNC ENSG00000136367 16 0 0.00 13 5 27.78 - - - ZKSCAN2 0 genome.wustl.edu 37 16 25251806 25251806 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 16 25251806 25251806 C T SNP ZKSCAN2 ENST00000328086 human ensembl 69_37n -1 known silent c.2235 p.K745 0.988 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 118 1 0.84 68 19 21.84 - - - ZNF131 0 genome.wustl.edu 37 5 43161888 43161888 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 43161888 43161888 G C SNP ZNF131 ENST00000399534 human ensembl 69_37n +1 known missense c.909 p.W303C 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZNF131 HGNC ENSG00000172262 72 0 0.00 47 12 20.34 - - - ZNF197 0 genome.wustl.edu 37 3 44685697 44685697 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 3 44685697 44685697 G C SNP ZNF197 ENST00000344387 human ensembl 69_37n +1 known missense c.3075 p.E1025D 0.985 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF197 HGNC ENSG00000186448 86 0 0.00 63 23 26.74 - - - ZNF22 0 genome.wustl.edu 37 10 45499194 45499194 + Silent SNP C C T TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 10 45499194 45499194 C T SNP ZNF22 ENST00000298299 human ensembl 69_37n +1 known silent c.378 p.L126 0.961 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF22 HGNC ENSG00000165512 94 0 0.00 92 14 13.21 - - - ZNF224 0 genome.wustl.edu 37 19 44611829 44611829 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 44611829 44611829 C G SNP ZNF224 ENST00000336976 human ensembl 69_37n +1 known missense c.1516 p.H506D 0.993 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 ZNF224 HGNC ENSG00000267680 111 0 0.00 168 24 12.50 - - - ZNF254 0 genome.wustl.edu 37 19 24309129 24309129 + Silent SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 24309129 24309129 G A SNP ZNF254 ENST00000357002 human ensembl 69_37n +1 known silent c.327 p.L109 0.002 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 ZNF254 HGNC ENSG00000213096 175 0 0.00 171 34 16.59 - - - ZNF304 0 genome.wustl.edu 37 19 57868151 57868151 + Missense_Mutation SNP G G C TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 57868151 57868151 G C SNP ZNF304 ENST00000443917 human ensembl 69_37n +1 known missense c.1055 p.R352T 0.004 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 ZNF304 HGNC ENSG00000131845 131 0 0.00 106 32 23.19 - - - ZNF462 0 genome.wustl.edu 37 9 109687510 109687510 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 9 109687510 109687510 C G SNP ZNF462 ENST00000457913 human ensembl 69_37n +1 known missense c.1317 p.F439L 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF462 HGNC ENSG00000148143 133 0 0.00 70 15 17.44 - - - ZNF608 0 genome.wustl.edu 37 5 124080411 124080411 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 5 124080411 124080411 G A SNP ZNF608 ENST00000306315 human ensembl 69_37n -1 known missense c.272 p.S91F 1.000 NULL NULL - no_errors ZNF608 HGNC ENSG00000168916 245 0 0.00 171 41 19.34 - - - ZNF677 0 genome.wustl.edu 37 19 53740966 53740966 + Missense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 53740966 53740966 C G SNP ZNF677 ENST00000333952 human ensembl 69_37n -1 known missense c.1014 p.Q338H 0.298 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 ZNF677 HGNC ENSG00000197928 206 0 0.00 172 36 17.31 - - - ZNF692 0 genome.wustl.edu 37 1 249151646 249151646 + Missense_Mutation SNP G G A TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 1 249151646 249151646 G A SNP ZNF692 ENST00000451251 human ensembl 69_37n -1 known missense c.277 p.H93Y 0.284 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF692 HGNC ENSG00000171163 26 0 0.00 36 8 18.18 - - - ZNF700 0 genome.wustl.edu 37 19 12059255 12059255 + Nonsense_Mutation SNP C C G TCGA-AN-A0XW-01A-11D-A10G-09 TCGA-AN-A0XW-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 200dba9e-201b-4634-a2cf-666e1f6710dc 42b25d03-4d22-4b23-82a5-4369aa21c4a1 19 12059255 12059255 C G SNP ZNF700 ENST00000254321 human ensembl 69_37n +1 known nonsense c.416 p.S139* 0.028 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 ZNF700 HGNC ENSG00000196757 182 0 0.00 239 34 12.45 - - -