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 AFF2 0 genome.wustl.edu 37 X 147743964 147743964 + Missense_Mutation SNP C C T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 X 147743964 147743964 C T SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.716 p.P239L 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 56 0 0.00 21 15 41.67 - - - AKAP3 0 genome.wustl.edu 37 12 4737717 4737717 + Silent SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 12 4737717 4737717 G A SNP AKAP3 ENST00000228850 human ensembl 69_37n -1 known silent c.351 p.N117 0.000 smart_AKAP_110 pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110 - no_errors AKAP3 HGNC ENSG00000111254 79 0 0.00 31 14 31.11 - - - ARHGAP42 0 genome.wustl.edu 37 11 100812591 100812591 + Silent SNP A A G TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 11 100812591 100812591 A G SNP ARHGAP42 ENST00000298815 human ensembl 69_37n +1 known silent c.909 p.S303 0.989 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_RhoGAP_dom,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_errors ARHGAP42 HGNC ENSG00000165895 115 0 0.00 23 9 28.12 - - - ARHGEF12 0 genome.wustl.edu 37 11 120317216 120317216 + Missense_Mutation SNP C C T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 11 120317216 120317216 C T SNP ARHGEF12 ENST00000356641 human ensembl 69_37n +1 known missense c.1393 p.R465W 1.000 pfam_Regulat_G_prot_signal-like,superfamily_Regulat_G_prot_signal_superfam pfam_Regulat_G_prot_signal-like,pfam_DH-domain,pfam_PDZ,superfamily_Regulat_G_prot_signal_superfam,superfamily_DH-domain,superfamily_PDZ,smart_PDZ,smart_DH-domain,smart_Pleckstrin_homology,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors ARHGEF12 HGNC ENSG00000196914 80 0 0.00 20 7 25.93 - - - BPIFB4 0 genome.wustl.edu 37 20 31692615 31692615 + Splice_Site SNP G G T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 20 31692615 31692615 G T SNP BPIFB4 ENST00000375483 human ensembl 69_37n +1 known splice_site c.1681-1 e14-1 0.993 - - - no_errors BPIFB4 HGNC ENSG00000186191 116 0 0.00 37 12 24.49 - - - C12orf5 0 genome.wustl.edu 37 12 4458991 4458991 + Missense_Mutation SNP C C A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 12 4458991 4458991 C A SNP C12orf5 ENST00000179259 human ensembl 69_37n +1 known missense c.199 p.H67N 0.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1 - no_errors C12orf5 HGNC ENSG00000078237 56 0 0.00 29 8 21.62 - - - C5orf42 0 genome.wustl.edu 37 5 37187668 37187668 + Missense_Mutation SNP C C T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 5 37187668 37187668 C T SNP C5orf42 ENST00000425232 human ensembl 69_37n -1 known missense c.3928 p.E1310K 0.048 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 77 0 0.00 23 7 22.58 - - - CDH17 0 genome.wustl.edu 37 8 95183115 95183115 + Silent SNP C C A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 8 95183115 95183115 C A SNP CDH17 ENST00000027335 human ensembl 69_37n -1 known silent c.882 p.V294 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH17 HGNC ENSG00000079112 132 0 0.00 49 25 33.78 - - - CHD8 0 genome.wustl.edu 37 14 21869629 21869629 + Missense_Mutation SNP T T A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 14 21869629 21869629 T A SNP CHD8 ENST00000399982 human ensembl 69_37n -1 known missense c.4106 p.D1369V 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD8 HGNC ENSG00000100888 75 0 0.00 25 7 21.88 - - - CROCCP2 0 genome.wustl.edu 37 1 16944953 16944953 + RNA SNP T T G TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 1 16944953 16944953 T G SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0.00 11 4 26.67 - - - CROCCP2 0 genome.wustl.edu 37 1 16945027 16945027 + RNA SNP T T C TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 1 16945027 16945027 T C SNP CROCCP2 ENST00000412962 human ensembl 69_37n -1 known rna NULL NULL 0.007 - - - no_errors CROCCP2 HGNC ENSG00000215908 9 0 0.00 12 6 33.33 - - - CROCCP2 0 genome.wustl.edu 37 1 16950063 16950063 + RNA SNP C C A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 1 16950063 16950063 C A SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors CROCCP2 HGNC ENSG00000215908 8 0 0.00 12 4 25.00 - - - FAF1 0 genome.wustl.edu 37 1 50907189 50907189 + Nonsense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 1 50907189 50907189 G A SNP FAF1 ENST00000371778 human ensembl 69_37n -1 known nonsense c.1876 p.Q626* 1.000 pfam_UBX,smart_UBX,pfscan_UBX pfam_UBX,superfamily_UBA-like,smart_UAS,smart_UBX,pfscan_UBX - no_errors FAF1 HGNC ENSG00000185104 56 0 0.00 31 7 18.42 - - - FAM21A 0 genome.wustl.edu 37 10 51853633 51853633 + Missense_Mutation SNP C C T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 10 51853633 51853633 C T SNP FAM21A ENST00000282633 human ensembl 69_37n +1 known missense c.1136 p.T379M 0.370 NULL NULL - no_errors FAM21A HGNC ENSG00000099290 9 0 0.00 1 2 66.67 - - - FAM71A 0 genome.wustl.edu 37 1 212799872 212799872 + Silent SNP C C T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 1 212799872 212799872 C T SNP FAM71A ENST00000294829 human ensembl 69_37n +1 known silent c.1653 p.N551 0.000 NULL pfam_DUF3699 - no_errors FAM71A HGNC ENSG00000162771 50 0 0.00 24 4 14.29 - - - GPC5 0 genome.wustl.edu 37 13 92101096 92101096 + Missense_Mutation SNP G G C TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 13 92101096 92101096 G C SNP GPC5 ENST00000377067 human ensembl 69_37n +1 known missense c.245 p.R82P 0.047 pfam_Glypican pfam_Glypican - no_errors GPC5 HGNC ENSG00000179399 68 0 0.00 36 10 21.74 - - - HPCAL1 0 genome.wustl.edu 37 2 10560114 10560114 + Silent SNP C C T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 2 10560114 10560114 C T SNP HPCAL1 ENST00000307845 human ensembl 69_37n +1 known silent c.231 p.D77 0.908 pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin pfam_EF-hand,pfam_SPARC/Testican_Ca-bd-dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors HPCAL1 HGNC ENSG00000115756 63 0 0.00 24 12 33.33 - - - IFT52 0 genome.wustl.edu 37 20 42271138 42271138 + Silent SNP A A G TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 20 42271138 42271138 A G SNP IFT52 ENST00000373030 human ensembl 69_37n +1 known silent c.1140 p.E380 1.000 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 104 0 0.00 28 8 21.62 - - - KAT2B 0 genome.wustl.edu 37 3 20193909 20193910 + Frame_Shift_Ins INS - - A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 3 20193909 20193910 - A INS KAT2B ENST00000263754 human ensembl 69_37n +1 known frame_shift_ins c.2391_2392 p.N797fs 1.000:1.000 pirsf_Hist_acetylase_PCAF,pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom,prints_Bromodomain - no_errors KAT2B HGNC ENSG00000114166 59 0 0.00 19 10 34.48 - - - KIAA0100 0 genome.wustl.edu 37 17 26962549 26962549 + Missense_Mutation SNP G G C TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 17 26962549 26962549 G C SNP KIAA0100 ENST00000005905 human ensembl 69_37n -1 known missense c.2056 p.L686V 0.010 NULL pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom - no_errors KIAA0100 HGNC ENSG00000007202 41 0 0.00 11 76 87.36 - - - LGMN 0 genome.wustl.edu 37 14 93178044 93178044 + Missense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 14 93178044 93178044 G A SNP LGMN ENST00000334869 human ensembl 69_37n -1 known missense c.779 p.S260L 0.086 pfam_Peptidase_C13 pfam_Peptidase_C13,prints_Peptidase_C13 - no_errors LGMN HGNC ENSG00000100600 135 0 0.00 43 17 27.87 - - - LRP12 0 genome.wustl.edu 37 8 105510194 105510194 + Missense_Mutation SNP C C T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 8 105510194 105510194 C T SNP LRP12 ENST00000424843 human ensembl 69_37n -1 known missense c.529 p.D177N 1.000 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt - no_errors LRP12 HGNC ENSG00000147650 91 0 0.00 44 24 35.29 - - - MAPK10 0 genome.wustl.edu 37 4 87028414 87028414 + Missense_Mutation SNP G G C TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 4 87028414 87028414 G C SNP MAPK10 ENST00000359221 human ensembl 69_37n -1 known missense c.328 p.R110G 1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_MAPK_JNK - no_errors MAPK10 HGNC ENSG00000109339 171 1 0.58 43 22 33.85 - - - MUC17 0 genome.wustl.edu 37 7 100676392 100676392 + Silent SNP T T C TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 7 100676392 100676392 T C SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.1695 p.P565 0.000 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 181 0 0.00 43 13 23.21 - - - MYO6 0 genome.wustl.edu 37 6 76596584 76596584 + Missense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 6 76596584 76596584 G A SNP MYO6 ENST00000369981 human ensembl 69_37n +1 known missense c.2531 p.G844D 1.000 NULL pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom - no_errors MYO6 HGNC ENSG00000196586 73 0 0.00 24 7 22.58 - - - OLFML2A 0 genome.wustl.edu 37 9 127549306 127549306 + Missense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 9 127549306 127549306 G A SNP OLFML2A ENST00000373580 human ensembl 69_37n +1 known missense c.143 p.R48H 1.000 NULL pfam_Olfac-like,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFML2A HGNC ENSG00000185585 55 0 0.00 18 10 35.71 - - - ORC3 0 genome.wustl.edu 37 6 88375529 88375529 + Missense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 6 88375529 88375529 G A SNP ORC3 ENST00000257789 human ensembl 69_37n +1 known missense c.2011 p.E671K 1.000 NULL pfam_ORC3 - no_errors ORC3 HGNC ENSG00000135336 66 0 0.00 31 8 20.51 - - - PDLIM1 0 genome.wustl.edu 37 10 97007096 97007096 + Missense_Mutation SNP G G C TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 10 97007096 97007096 G C SNP PDLIM1 ENST00000329399 human ensembl 69_37n -1 known missense c.561 p.S187R 0.096 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM1 HGNC ENSG00000107438 90 0 0.00 25 16 38.10 - - - PKP1 0 genome.wustl.edu 37 1 201282596 201282596 + Silent SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 1 201282596 201282596 G A SNP PKP1 ENST00000263946 human ensembl 69_37n +1 known silent c.609 p.P203 0.141 NULL pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors PKP1 HGNC ENSG00000081277 65 0 0.00 22 10 31.25 - - - RAB3GAP1 0 genome.wustl.edu 37 2 135848655 135848655 + Missense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 2 135848655 135848655 G A SNP RAB3GAP1 ENST00000264158 human ensembl 69_37n +1 known missense c.238 p.V80I 1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 109 0 0.00 26 13 33.33 - - - THG1L 0 genome.wustl.edu 37 5 157166415 157166415 + Silent SNP A A T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 5 157166415 157166415 A T SNP THG1L ENST00000231198 human ensembl 69_37n +1 known silent c.822 p.P274 0.006 pfam_tRNAHis_GuaTrfase_cat,pirsf_tRNAHis_GuaTrfase_Thg1 pfam_tRNAHis_GuaTrfase_cat,superfamily_Restrct_endonuc-II-like,pirsf_tRNAHis_GuaTrfase_Thg1 - no_errors THG1L HGNC ENSG00000113272 56 0 0.00 15 6 28.57 - - - TMEM132C 0 genome.wustl.edu 37 12 129189746 129189746 + Missense_Mutation SNP G G A TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 12 129189746 129189746 G A SNP TMEM132C ENST00000435159 human ensembl 69_37n +1 known missense c.2233 p.V745M 0.945 NULL NULL - no_errors TMEM132C HGNC ENSG00000181234 31 0 0.00 19 5 20.83 - - - TMPRSS5 0 genome.wustl.edu 37 11 113570327 113570327 + Silent SNP T T G TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 11 113570327 113570327 T G SNP TMPRSS5 ENST00000299882 human ensembl 69_37n -1 known silent c.195 p.S65 0.155 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 - no_errors TMPRSS5 HGNC ENSG00000166682 62 0 0.00 20 5 20.00 - - - ZSCAN22 0 genome.wustl.edu 37 19 58850657 58850657 + Missense_Mutation SNP G G T TCGA-GM-A2DA-01A-11D-A18P-09 TCGA-GM-A2DA-10C-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 9e036b90-1cb2-4cb8-857d-09f2ca48e059 073ca5ca-7062-4b02-b5f4-49dbe64aa329 19 58850657 58850657 G T SNP ZSCAN22 ENST00000329665 human ensembl 69_37n +1 known missense c.1441 p.V481F 0.004 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN22 HGNC ENSG00000182318 46 0 0.00 14 7 33.33 - - -