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 A4GALT 0 genome.wustl.edu 37 22 43089316 43089316 + Nonsense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 22 43089316 43089316 G C SNP A4GALT ENST00000249005 human ensembl 69_37n -1 known nonsense c.642 p.Y214* 0.573 pfam_GlycoTrfase_DXD_sugar-bd_CS pfam_A1-4-GlycosylTfrase_dom,pfam_GlycoTrfase_DXD_sugar-bd_CS - no_errors A4GALT HGNC ENSG00000128274 16 0 0.00 4 13 76.47 - - - AIM1 0 genome.wustl.edu 37 6 106967547 106967547 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 106967547 106967547 G A SNP AIM1 ENST00000369066 human ensembl 69_37n +1 known missense c.1240 p.D414N 0.005 NULL pfam_Beta/gamma_crystallin,pfam_Ricin_B_lectin,superfamily_G_crystallin-rel,superfamily_Ricin_B_lectin,smart_Beta/gamma_crystallin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors AIM1 HGNC ENSG00000112297 73 0 0.00 89 25 21.93 - - - ALG13 0 genome.wustl.edu 37 X 111003141 111003141 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 X 111003141 111003141 C G SNP ALG13 ENST00000251943 human ensembl 69_37n +1 known missense c.2779 p.Q927E 0.136 NULL pfam_OTU,pfscan_OTU,pfscan_Tudor - no_errors ALG13 HGNC ENSG00000101901 226 0 0.00 149 22 12.87 - - - ANKRD26 0 genome.wustl.edu 37 10 27324552 27324552 + Missense_Mutation SNP A A C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 10 27324552 27324552 A C SNP ANKRD26 ENST00000436985 human ensembl 69_37n -1 known missense c.2875 p.F959V 0.012 NULL pfam_DUF3496,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Polyketide_synth_docking,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD26 HGNC ENSG00000107890 235 0 0.00 128 49 27.68 - - - ASB1 0 genome.wustl.edu 37 2 239353225 239353225 + Missense_Mutation SNP A A C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 239353225 239353225 A C SNP ASB1 ENST00000264607 human ensembl 69_37n +1 known missense c.737 p.H246P 0.971 superfamily_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt - no_errors ASB1 HGNC ENSG00000065802 71 0 0.00 95 26 21.31 - - - BLOC1S5 0 genome.wustl.edu 37 6 8016001 8016001 + Missense_Mutation SNP T T G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 8016001 8016001 T G SNP BLOC1S5 ENST00000397457 human ensembl 69_37n -1 known missense c.445 p.M149L 0.999 pirsf_BLOC-1_complex_muted_subunit pirsf_BLOC-1_complex_muted_subunit - no_errors BLOC1S5 HGNC ENSG00000188428 303 0 0.00 203 54 21.01 - - - BPIFB3 0 genome.wustl.edu 37 20 31652642 31652642 + Silent SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 20 31652642 31652642 C T SNP BPIFB3 ENST00000375494 human ensembl 69_37n +1 known silent c.915 p.T305 0.098 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 32 0 0.00 46 9 16.36 - - - BTBD7 0 genome.wustl.edu 37 14 93709023 93709023 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 14 93709023 93709023 G A SNP BTBD7 ENST00000334746 human ensembl 69_37n -1 known missense c.2995 p.P999S 1.000 NULL pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,pfscan_BTB/POZ-like - no_errors BTBD7 HGNC ENSG00000011114 214 0 0.00 57 95 62.50 - - - CACNA2D1 0 genome.wustl.edu 37 7 81589141 81589141 + Missense_Mutation SNP A A T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 7 81589141 81589141 A T SNP CACNA2D1 ENST00000356253 human ensembl 69_37n -1 known missense c.3007 p.F1003I 1.000 NULL pfam_VDCC_a2/dsu,pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CACNA2D1 HGNC ENSG00000153956 98 0 0.00 72 8 10.00 - - - CAMSAP2 0 genome.wustl.edu 37 1 200818901 200818901 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 200818901 200818901 C G SNP CAMSAP2 ENST00000236925 human ensembl 69_37n +1 known missense c.3037 p.P1013A 1.000 NULL pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain - no_errors CAMSAP2 HGNC ENSG00000118200 170 0 0.00 85 90 51.43 - - - CAPS2 0 genome.wustl.edu 37 12 75716789 75716789 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 12 75716789 75716789 G C SNP CAPS2 ENST00000409445 human ensembl 69_37n -1 known missense c.313 p.Q105E 0.039 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors CAPS2 HGNC ENSG00000180881 43 0 0.00 12 9 42.86 - - - CCDC150 0 genome.wustl.edu 37 2 197541323 197541323 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 197541323 197541323 G C SNP CCDC150 ENST00000389175 human ensembl 69_37n +1 known missense c.1308 p.Q436H 0.989 NULL NULL - no_errors CCDC150 HGNC ENSG00000144395 115 0 0.00 108 14 11.48 - - - CD163L1 0 genome.wustl.edu 37 12 7527924 7527924 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 12 7527924 7527924 C G SNP CD163L1 ENST00000313599 human ensembl 69_37n -1 known missense c.2954 p.G985A 0.591 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt - no_errors CD163L1 HGNC ENSG00000177675 53 0 0.00 70 18 20.45 - - - CIC 0 genome.wustl.edu 37 19 42794664 42794664 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 42794664 42794664 G C SNP CIC ENST00000160740 human ensembl 69_37n +1 known missense c.1744 p.A582P 0.029 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily - no_errors CIC HGNC ENSG00000079432 44 0 0.00 78 21 21.21 - - - CKLF 0 genome.wustl.edu 37 16 66592170 66592170 + Missense_Mutation SNP A A T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 16 66592170 66592170 A T SNP CKLF ENST00000264001 human ensembl 69_37n +1 known missense c.156 p.E52D 0.997 NULL NULL - no_errors CKLF HGNC ENSG00000217555 312 0 0.00 124 125 50.20 - - - CNTNAP2 0 genome.wustl.edu 37 7 147675016 147675016 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 7 147675016 147675016 G C SNP CNTNAP2 ENST00000361727 human ensembl 69_37n +1 known missense c.2318 p.G773A 1.000 NULL pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,pfam_EGF-like_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP2 HGNC ENSG00000174469 184 0 0.00 155 44 22.00 - - - COPS2 0 genome.wustl.edu 37 15 49420938 49420938 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 15 49420938 49420938 G A SNP COPS2 ENST00000299259 human ensembl 69_37n -1 known missense c.1169 p.A390V 1.000 pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PCI_dom pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom - no_errors COPS2 HGNC ENSG00000166200 112 0 0.00 50 20 28.57 - - - CPT1B 0 genome.wustl.edu 37 22 51007768 51007768 + Silent SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 22 51007768 51007768 C T SNP CPT1B ENST00000312108 human ensembl 69_37n -1 known silent c.2318 p.*773 0.996 NULL pfam_Carn_acyl_trans - no_errors CPT1B HGNC ENSG00000205560 109 0 0.00 86 21 19.63 - - - CRLS1 0 genome.wustl.edu 37 20 6011956 6011956 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 20 6011956 6011956 G A SNP CRLS1 ENST00000378863 human ensembl 69_37n +1 known silent c.600 p.S200 1.000 NULL pfam_CDP-OH_P_trans - no_errors CRLS1 HGNC ENSG00000088766 377 0 0.00 300 65 17.76 - - - CSMD2 0 genome.wustl.edu 37 1 34076840 34076840 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 34076840 34076840 G A SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known silent c.6144 p.I2048 0.997 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD2 HGNC ENSG00000121904 138 0 0.00 105 30 22.22 - - - CSMD3 0 genome.wustl.edu 37 8 113960102 113960103 + In_Frame_Ins INS - - TTT TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 113960102 113960103 - TTT INS CSMD3 ENST00000297405 human ensembl 69_37n -1 known in_frame_ins c.1425_1424 p.475in_frame_insK 1.000:1.000 NULL pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 258 0 0.00 143 19 11.73 - - - DDR2 0 genome.wustl.edu 37 1 162745606 162745606 + Missense_Mutation SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 162745606 162745606 C A SNP DDR2 ENST00000367921 human ensembl 69_37n +1 known missense c.2021 p.S674Y 0.285 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors DDR2 HGNC ENSG00000162733 117 0 0.00 125 53 29.78 - - - DEFB1 0 genome.wustl.edu 37 8 6735372 6735372 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 6735372 6735372 G T SNP DEFB1 ENST00000297439 human ensembl 69_37n -1 known missense c.8 p.T3N 0.000 NULL pfam_Defensin_beta-typ - no_errors DEFB1 HGNC ENSG00000164825 105 0 0.00 119 18 13.14 - - - DMGDH 0 genome.wustl.edu 37 5 78328517 78328517 + Nonsense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 5 78328517 78328517 G A SNP DMGDH ENST00000255189 human ensembl 69_37n -1 known nonsense c.1510 p.Q504* 1.000 NULL pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C,pfam_SoxG - no_errors DMGDH HGNC ENSG00000132837 35 0 0.00 22 4 15.38 - - - DNAH7 0 genome.wustl.edu 37 2 196912145 196912145 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 196912145 196912145 G C SNP DNAH7 ENST00000312428 human ensembl 69_37n -1 known missense c.329 p.S110C 0.180 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2 - no_errors DNAH7 HGNC ENSG00000118997 244 0 0.00 125 187 59.94 - - - DOC2A 0 genome.wustl.edu 37 16 30018135 30018135 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 16 30018135 30018135 G T SNP DOC2A ENST00000564357 human ensembl 69_37n -1 novel missense c.358 p.Q120K 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DOC2A HGNC ENSG00000149927 72 0 0.00 94 19 16.81 - - - DYNC2H1 0 genome.wustl.edu 37 11 103178535 103178535 + Missense_Mutation SNP A A T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 11 103178535 103178535 A T SNP DYNC2H1 ENST00000398093 human ensembl 69_37n +1 known missense c.11489 p.Q3830L 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DYNC2H1 HGNC ENSG00000187240 119 0 0.00 31 101 76.52 - - - EFR3B 0 genome.wustl.edu 37 2 25358467 25358467 + Silent SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 25358467 25358467 C T SNP EFR3B ENST00000403714 human ensembl 69_37n +1 known silent c.1443 p.F481 1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors EFR3B HGNC ENSG00000084710 111 0 0.00 87 57 39.58 - - - EHMT1 0 genome.wustl.edu 37 9 140729276 140729276 + Silent SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 9 140729276 140729276 C T SNP EHMT1 ENST00000460843 human ensembl 69_37n +1 known silent c.3768 p.C1256 1.000 NULL pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt - no_errors EHMT1 HGNC ENSG00000181090 25 0 0.00 26 6 18.75 - - - ESAM 0 genome.wustl.edu 37 11 124623780 124623780 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 11 124623780 124623780 G A SNP ESAM ENST00000278927 human ensembl 69_37n -1 known missense c.935 p.S312F 0.997 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors ESAM HGNC ENSG00000149564 125 0 0.00 84 19 18.45 - - - EXOC6 0 genome.wustl.edu 37 10 94653185 94653185 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 10 94653185 94653185 G A SNP EXOC6 ENST00000371547 human ensembl 69_37n +1 known missense c.229 p.E77K 1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 158 0 0.00 119 21 15.00 - - - FAM135A 0 genome.wustl.edu 37 6 71235917 71235917 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 71235917 71235917 G T SNP FAM135A ENST00000418814 human ensembl 69_37n +1 known missense c.3130 p.G1044C 1.000 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like,pfam_LACT/PDAT_acylTrfase - no_errors FAM135A HGNC ENSG00000082269 65 0 0.00 45 14 23.73 - - - FAM135B 0 genome.wustl.edu 37 8 139268993 139268993 + Missense_Mutation SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 139268993 139268993 C A SNP FAM135B ENST00000395297 human ensembl 69_37n -1 known missense c.307 p.A103S 0.996 NULL pfam_DUF676_lipase-like,pfam_DUF3657,pfam_PGAP1-like - no_errors FAM135B HGNC ENSG00000147724 133 0 0.00 129 68 34.52 - - - FAM75D5 0 genome.wustl.edu 37 9 84532284 84532284 + RNA SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 9 84532284 84532284 A G SNP FAM75D5 ENST00000527857 human ensembl 69_37n +1 known rna NULL NULL 0.005 - - - no_errors FAM75D5 HGNC ENSG00000240632 181 0 0.00 115 45 28.12 - - - FAM86B2 0 genome.wustl.edu 37 8 12285064 12285064 + Missense_Mutation SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 12285064 12285064 A G SNP FAM86B2 ENST00000393715 human ensembl 69_37n -1 known missense c.310 p.S104P 0.001 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 9 0 0.00 10 9 47.37 - - - FBLN1 0 genome.wustl.edu 37 22 45972921 45972921 + Missense_Mutation SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 22 45972921 45972921 C A SNP FBLN1 ENST00000327858 human ensembl 69_37n +1 known missense c.1905 p.D635E 1.000 pirsf_Fibulin-1 pfam_EGF-like_Ca-bd,pfam_Anaphylatoxin/fibulin,smart_Anaphylatoxin/fibulin,smart_EGF-like,smart_EGF-like_Ca-bd,pirsf_Fibulin-1,pfscan_Anaphylatoxin/fibulin,pfscan_EG-like_dom - no_errors FBLN1 HGNC ENSG00000077942 114 0 0.00 116 36 23.68 - - - FBXL4 0 genome.wustl.edu 37 6 99374449 99374449 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 99374449 99374449 G C SNP FBXL4 ENST00000229971 human ensembl 69_37n -1 known missense c.416 p.A139G 1.000 NULL pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like - no_errors FBXL4 HGNC ENSG00000112234 64 0 0.00 57 31 35.23 - - - FGD6 0 genome.wustl.edu 37 12 95546743 95546743 + Missense_Mutation SNP T T G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 12 95546743 95546743 T G SNP FGD6 ENST00000343958 human ensembl 69_37n -1 known missense c.2613 p.K871N 1.000 superfamily_DH-domain,pfscan_DH-domain pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 278 0 0.00 201 60 22.99 - - - FLT4 0 genome.wustl.edu 37 5 180045774 180045774 + Silent SNP T T C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 5 180045774 180045774 T C SNP FLT4 ENST00000261937 human ensembl 69_37n -1 known silent c.2997 p.Q999 0.022 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_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,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_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT4 HGNC ENSG00000037280 35 0 0.00 13 9 39.13 - - - FRMD7 0 genome.wustl.edu 37 X 131233522 131233522 + Nonsense_Mutation SNP A A T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 X 131233522 131233522 A T SNP FRMD7 ENST00000298542 human ensembl 69_37n -1 known nonsense c.179 p.L60* 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam - no_errors FRMD7 HGNC ENSG00000165694 125 0 0.00 104 12 10.34 - - - GFPT2 0 genome.wustl.edu 37 5 179744011 179744011 + Missense_Mutation SNP A A C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 5 179744011 179744011 A C SNP GFPT2 ENST00000253778 human ensembl 69_37n -1 known missense c.1006 p.S336A 1.000 tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 189 0 0.00 166 26 13.54 - - - GOLGB1 0 genome.wustl.edu 37 3 121417739 121417739 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 3 121417739 121417739 G T SNP GOLGB1 ENST00000340645 human ensembl 69_37n -1 known missense c.1616 p.S539Y 0.019 NULL superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo - no_errors GOLGB1 HGNC ENSG00000173230 57 0 0.00 19 11 36.67 - - - HEXIM1 0 genome.wustl.edu 37 17 43227034 43227034 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 17 43227034 43227034 G A SNP HEXIM1 ENST00000332499 human ensembl 69_37n +1 known silent c.477 p.K159 1.000 NULL NULL - no_errors HEXIM1 HGNC ENSG00000186834 33 0 0.00 34 11 24.44 - - - HIF3A 0 genome.wustl.edu 37 19 46823710 46823710 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 46823710 46823710 G C SNP HIF3A ENST00000377670 human ensembl 69_37n +1 known missense c.1036 p.E346Q 1.000 NULL pfam_PAS_fold_3,pfam_PAS_fold,pfam_HIF_alpha_subunit,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,tigrfam_PAS - no_errors HIF3A HGNC ENSG00000124440 48 0 0.00 28 12 30.00 - - - HLA-F 0 genome.wustl.edu 37 6 29692892 29692892 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 29692892 29692892 C G SNP HLA-F ENST00000259951 human ensembl 69_37n +1 known missense c.695 p.A232G 0.962 pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2 - no_errors HLA-F HGNC ENSG00000204642 85 0 0.00 122 20 14.08 - - - IFI44L 0 genome.wustl.edu 37 1 79107183 79107183 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 79107183 79107183 G C SNP IFI44L ENST00000370751 human ensembl 69_37n +1 known missense c.1213 p.A405P 0.653 NULL NULL - no_errors IFI44L HGNC ENSG00000137959 149 0 0.00 159 32 16.75 - - - IGLJ2 0 genome.wustl.edu 37 22 23241754 23241754 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 22 23241754 23241754 G T SNP IGLJ2 ENST00000390322 human ensembl 69_37n +1 known missense c.61 p.G21W 0.001 NULL NULL - no_stop_codon:bad_bp_length_for_coding_region IGLJ2 HGNC ENSG00000211676 164 0 0.00 177 74 29.48 - - - IGSF21 0 genome.wustl.edu 37 1 18618477 18618477 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 18618477 18618477 G T SNP IGSF21 ENST00000251296 human ensembl 69_37n +1 known missense c.301 p.V101L 1.000 pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors IGSF21 HGNC ENSG00000117154 51 0 0.00 41 9 18.00 - - - INTS3 0 genome.wustl.edu 37 1 153736642 153736642 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 153736642 153736642 G A SNP INTS3 ENST00000318967 human ensembl 69_37n +1 known missense c.1870 p.E624K 1.000 NULL pfam_Integrator_3 - no_errors INTS3 HGNC ENSG00000143624 160 0 0.00 126 136 51.91 - - - IP6K3 0 genome.wustl.edu 37 6 33703104 33703104 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 33703104 33703104 G C SNP IP6K3 ENST00000293756 human ensembl 69_37n -1 known missense c.150 p.F50L 1.000 NULL pfam_IPK - no_errors IP6K3 HGNC ENSG00000161896 26 0 0.00 28 15 34.88 - - - IQCG 0 genome.wustl.edu 37 3 197619514 197619514 + Silent SNP T T C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 3 197619514 197619514 T C SNP IQCG ENST00000265239 human ensembl 69_37n -1 known silent c.1080 p.Q360 0.998 NULL pfam_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 567 1 0.18 1011 121 10.69 - - - KCNH6 0 genome.wustl.edu 37 17 61601567 61601567 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 17 61601567 61601567 C G SNP KCNH6 ENST00000583023 human ensembl 69_37n +1 known missense c.144 p.F48L 1.000 pfam_PAS_fold pfam_Ion_trans_dom,pfam_cNMP-bd_dom,pfam_Ion_trans_2,pfam_PAS_fold,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,prints_K_chnl_volt-dep_ELK,prints_2pore_dom_K_chnl,pfscan_cNMP-bd_dom - no_errors KCNH6 HGNC ENSG00000173826 117 0 0.00 181 43 19.20 - - - LGR4 0 genome.wustl.edu 37 11 27406878 27406878 + Missense_Mutation SNP T T C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 11 27406878 27406878 T C SNP LGR4 ENST00000379214 human ensembl 69_37n -1 known missense c.539 p.Q180R 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_supfam,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR4 HGNC ENSG00000205213 139 0 0.00 109 22 16.79 - - - LGR6 0 genome.wustl.edu 37 1 202287825 202287825 + Silent SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 202287825 202287825 G T SNP LGR6 ENST00000367278 human ensembl 69_37n +1 known silent c.2394 p.L798 0.998 pfam_7TM_GPCR_Rhodpsn pfam_Leu-rich_rpt,pfam_7TM_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors LGR6 HGNC ENSG00000133067 84 0 0.00 38 54 58.70 - - - LMF2 0 genome.wustl.edu 37 22 50945100 50945100 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 22 50945100 50945100 G A SNP LMF2 ENST00000487499 human ensembl 69_37n -1 putative silent c.363 p.S121 0.652 NULL pfam_LMF - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region LMF2 HGNC ENSG00000100258 68 0 0.00 56 17 23.29 - - - LMTK2 0 genome.wustl.edu 37 7 97823289 97823289 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 7 97823289 97823289 C G SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known missense c.3512 p.S1171C 0.434 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 25 0 0.00 27 15 35.71 - - - LOXL3 0 genome.wustl.edu 37 2 74777385 74777385 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 74777385 74777385 G A SNP LOXL3 ENST00000264094 human ensembl 69_37n -1 known missense c.404 p.T135M 0.995 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 61 0 0.00 42 9 17.65 - - - LPPR2 0 genome.wustl.edu 37 19 11468358 11468358 + Silent SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 11468358 11468358 A G SNP LPPR2 ENST00000591608 human ensembl 69_37n +1 known silent c.9 p.G3 0.996 NULL pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase - no_errors LPPR2 Clone_based_vega_gene ENSG00000105520 99 0 0.00 115 58 33.53 - - - LRRIQ1 0 genome.wustl.edu 37 12 85546835 85546835 + Missense_Mutation SNP T T A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 12 85546835 85546835 T A SNP LRRIQ1 ENST00000393217 human ensembl 69_37n +1 known missense c.4453 p.F1485I 0.523 NULL pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,smart_Leu-rich_rpt_typical-subtyp,pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ1 HGNC ENSG00000133640 108 0 0.00 59 10 14.49 - - - MAGEC1 0 genome.wustl.edu 37 X 140993500 140993500 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 X 140993500 140993500 G C SNP MAGEC1 ENST00000285879 human ensembl 69_37n +1 known missense c.310 p.E104Q 0.834 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 123 0 0.00 73 18 19.78 - - - MAGEE1 0 genome.wustl.edu 37 X 75649513 75649513 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 X 75649513 75649513 C G SNP MAGEE1 ENST00000361470 human ensembl 69_37n +1 known missense c.1190 p.P397R 0.007 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEE1 HGNC ENSG00000198934 50 0 0.00 37 9 19.57 - - - MARCH6 0 genome.wustl.edu 37 5 10410284 10410284 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 5 10410284 10410284 G A SNP MARCH6 ENST00000274140 human ensembl 69_37n +1 known silent c.1587 p.L529 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH6 HGNC ENSG00000145495 166 0 0.00 91 28 23.53 - - - MCRS1 0 genome.wustl.edu 37 12 49957250 49957250 + Missense_Mutation SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 12 49957250 49957250 C T SNP MCRS1 ENST00000357123 human ensembl 69_37n -1 known missense c.676 p.E226K 1.000 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom - no_errors MCRS1 HGNC ENSG00000187778 118 0 0.00 115 37 24.34 - - - MEGF8 0 genome.wustl.edu 37 19 42841097 42841097 + Silent SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 42841097 42841097 G T SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known silent c.1383 p.V461 0.998 NULL pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 73 0 0.00 105 23 17.97 - - - MORC2 0 genome.wustl.edu 37 22 31338115 31338115 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 22 31338115 31338115 C G SNP MORC2 ENST00000397641 human ensembl 69_37n -1 known missense c.570 p.K190N 1.000 superfamily_ATPase-like_ATP-bd pfam_Znf_CW,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Carb-bd_dom,pfscan_Znf_CW - no_errors MORC2 HGNC ENSG00000133422 100 0 0.00 80 17 17.53 - - - MRC1 0 genome.wustl.edu 37 10 18112248 18112248 + Missense_Mutation SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 10 18112248 18112248 A G SNP MRC1 ENST00000239761 human ensembl 69_37n +1 known missense c.266 p.Y89C 0.700 pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Ricin_B_lectin,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII - no_errors MRC1 HGNC ENSG00000120586 147 0 0.00 104 70 40.23 - - - MTCH1 0 genome.wustl.edu 37 6 36937843 36937843 + Missense_Mutation SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 36937843 36937843 A G SNP MTCH1 ENST00000373627 human ensembl 69_37n -1 known missense c.1070 p.I357T 1.000 superfamily_Mt_carrier_dom pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier - no_errors MTCH1 HGNC ENSG00000137409 57 0 0.00 48 21 30.43 - - - MTMR10 0 genome.wustl.edu 37 15 31239429 31239429 + Silent SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 15 31239429 31239429 G C SNP MTMR10 ENST00000435680 human ensembl 69_37n -1 known silent c.1452 p.S484 0.000 NULL pfam_Myotubularin_assoc,pfam_Myotub-related - no_errors MTMR10 HGNC ENSG00000166912 154 0 0.00 109 72 39.78 - - - MUC4 0 genome.wustl.edu 37 3 195510877 195510877 + Missense_Mutation SNP T T A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 3 195510877 195510877 T A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.7574 p.D2525V 0.139 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 380 0 0.00 627 91 12.66 - - - MXRA5 0 genome.wustl.edu 37 X 3241892 3241892 + Missense_Mutation SNP T T A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 X 3241892 3241892 T A SNP MXRA5 ENST00000217939 human ensembl 69_37n -1 known missense c.1834 p.I612F 0.994 pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors MXRA5 HGNC ENSG00000101825 194 0 0.00 107 33 23.57 - - - MYC 0 genome.wustl.edu 37 8 128753130 128753130 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 128753130 128753130 G A SNP MYC ENST00000377970 human ensembl 69_37n +1 known missense c.1291 p.E431K 0.964 pfam_Myc-LZ,superfamily_HLH_DNA-bd pfam_Tscrpt_reg_Myc_N,pfam_Myc-LZ,pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd,prints_Tscrpt_reg_Myc - no_errors MYC HGNC ENSG00000136997 29 0 0.00 34 8 19.05 - - - MYO15A 0 genome.wustl.edu 37 17 18082136 18082136 + Missense_Mutation SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 17 18082136 18082136 C A SNP MYO15A ENST00000418233 human ensembl 69_37n +1 novel missense c.2389 p.P797T 1.000 pfscan_FERM_domain pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,superfamily_FERM_central,superfamily_SH3_domain,smart_SH3_domain,smart_MyTH4_dom,smart_Band_41_domain,pfscan_FERM_domain,pfscan_MyTH4_dom - no_errors MYO15A HGNC ENSG00000091536 212 0 0.00 69 94 57.32 - - - MYO7B 0 genome.wustl.edu 37 2 128346067 128346067 + Missense_Mutation SNP A A C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 128346067 128346067 A C SNP MYO7B ENST00000389524 human ensembl 69_37n +1 known missense c.1791 p.L597F 0.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,pfam_SH3_2,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_Band_41_domain,smart_SH3_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,pfscan_SH3_domain,prints_Myosin_head_motor_dom - no_errors MYO7B HGNC ENSG00000169994 84 0 0.00 85 30 26.09 - - - NDRG1 0 genome.wustl.edu 37 8 134260979 134260979 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 134260979 134260979 C G SNP NDRG1 ENST00000323851 human ensembl 69_37n -1 known missense c.734 p.G245A 0.994 pfam_Ndr pfam_Ndr - no_errors NDRG1 HGNC ENSG00000104419 64 0 0.00 95 13 12.04 - - - NPHS2 0 genome.wustl.edu 37 1 179520518 179520518 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 179520518 179520518 G A SNP NPHS2 ENST00000367615 human ensembl 69_37n -1 known silent c.942 p.G314 0.352 prints_Stomatin pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors NPHS2 HGNC ENSG00000116218 86 0 0.00 45 29 39.19 - - - OR10T2 0 genome.wustl.edu 37 1 158368709 158368709 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 158368709 158368709 G T SNP OR10T2 ENST00000334438 human ensembl 69_37n -1 known missense c.548 p.A183E 0.128 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 59 0 0.00 54 17 23.94 - - - OR4X2 0 genome.wustl.edu 37 11 48266932 48266932 + Frame_Shift_Del DEL C C - TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 11 48266932 48266932 C - DEL OR4X2 ENST00000302329 human ensembl 69_37n +1 known frame_shift_del c.277 p.L93fs 0.002 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4X2 HGNC ENSG00000172208 148 0 0.00 150 38 19.90 - - - OR5I1 0 genome.wustl.edu 37 11 55703108 55703108 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 11 55703108 55703108 G A SNP OR5I1 ENST00000301532 human ensembl 69_37n -1 known missense c.769 p.L257F 0.002 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 OR5I1 HGNC ENSG00000167825 149 0 0.00 91 51 35.92 - - - PACS1 0 genome.wustl.edu 37 11 65983634 65983634 + Silent SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 11 65983634 65983634 C T SNP PACS1 ENST00000320580 human ensembl 69_37n +1 known silent c.705 p.H235 1.000 NULL pfam_Phosphofurin_acidic_CS-1 - no_errors PACS1 HGNC ENSG00000175115 97 0 0.00 45 22 32.84 - - - PDE4B 0 genome.wustl.edu 37 1 66838157 66838157 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 66838157 66838157 G T SNP PDE4B ENST00000329654 human ensembl 69_37n +1 known missense c.2007 p.R669S 0.728 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 73 0 0.00 53 8 13.11 - - - PDLIM7 0 genome.wustl.edu 37 5 176910945 176910945 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 5 176910945 176910945 C G SNP PDLIM7 ENST00000355841 human ensembl 69_37n -1 known missense c.1210 p.D404H 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM7 HGNC ENSG00000196923 54 0 0.00 56 14 19.72 - - - PEBP1 0 genome.wustl.edu 37 12 118582484 118582484 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 12 118582484 118582484 G T SNP PEBP1 ENST00000261313 human ensembl 69_37n +1 known missense c.440 p.G147V 1.000 pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP pfam_PtdEtn-bd_prot_PEBP,superfamily_PtdEtn-bd_prot_PEBP - no_errors PEBP1 HGNC ENSG00000089220 92 0 0.00 76 19 20.00 - - - PEG3 0 genome.wustl.edu 37 19 57325217 57325217 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 57325217 57325217 G C SNP PEG3 ENST00000326441 human ensembl 69_37n -1 known missense c.4593 p.I1531M 0.004 NULL 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 PEG3 HGNC ENSG00000198300 180 0 0.00 140 40 22.10 - - - PHLPP1 0 genome.wustl.edu 37 18 60642850 60642850 + Missense_Mutation SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 18 60642850 60642850 A G SNP PHLPP1 ENST00000262719 human ensembl 69_37n +1 known missense c.3976 p.I1326V 0.997 pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology - no_errors PHLPP1 HGNC ENSG00000081913 64 0 0.00 51 11 17.74 - - - PKHD1L1 0 genome.wustl.edu 37 8 110499050 110499050 + Frame_Shift_Del DEL G G - TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 110499050 110499050 G - DEL PKHD1L1 ENST00000378402 human ensembl 69_37n +1 known frame_shift_del c.9880 p.G3294fs 1.000 superfamily_Pectin_lyase_fold/virulence,smart_PbH1 pfam_IPT_TIG_rcpt,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT_TIG_rcpt,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 192 0 0.00 157 71 30.74 - - - PPIP5K2 0 genome.wustl.edu 37 5 102526670 102526670 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 5 102526670 102526670 G C SNP PPIP5K2 ENST00000358359 human ensembl 69_37n +1 known missense c.3480 p.K1160N 1.000 NULL pfam_His_Pase_superF_clade-2 - no_errors PPIP5K2 HGNC ENSG00000145725 200 0 0.00 75 36 32.43 - - - PPP2CB 0 genome.wustl.edu 37 8 30657145 30657145 + Missense_Mutation SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 30657145 30657145 C A SNP PPP2CB ENST00000221138 human ensembl 69_37n -1 known missense c.229 p.D77Y 1.000 pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase pfam_Metallo_PEstase_dom,smart_Ser/Thr-sp_prot-phosphatase,prints_Ser/Thr-sp_prot-phosphatase - no_errors PPP2CB HGNC ENSG00000104695 203 0 0.00 102 49 32.45 - - - PQBP1 0 genome.wustl.edu 37 X 48760064 48760064 + Missense_Mutation SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 X 48760064 48760064 C T SNP PQBP1 ENST00000456306 human ensembl 69_37n +1 known missense c.314 p.T105M 0.994 NULL pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region PQBP1 HGNC ENSG00000102103 158 0 0.00 202 40 16.53 - - - RABGGTB 0 genome.wustl.edu 37 1 76254953 76254953 + Missense_Mutation SNP T T A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 76254953 76254953 T A SNP RABGGTB ENST00000319942 human ensembl 69_37n +1 known missense c.221 p.F74Y 1.000 pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_Prenyltrans,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors RABGGTB HGNC ENSG00000137955 159 0 0.00 168 68 28.81 - - - RBM6 0 genome.wustl.edu 37 3 50005040 50005040 + Missense_Mutation SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 3 50005040 50005040 C T SNP RBM6 ENST00000266022 human ensembl 69_37n +1 known missense c.182 p.S61L 1.000 NULL pfam_G_patch_dom,smart_RRM_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM6 HGNC ENSG00000004534 143 0 0.00 92 19 17.12 - - - SCN11A 0 genome.wustl.edu 37 3 38951660 38951660 + Missense_Mutation SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 3 38951660 38951660 A G SNP SCN11A ENST00000302328 human ensembl 69_37n -1 known missense c.998 p.I333T 0.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN11A HGNC ENSG00000168356 120 0 0.00 42 40 48.78 - - - SCYL2 0 genome.wustl.edu 37 12 100729669 100729669 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 12 100729669 100729669 G C SNP SCYL2 ENST00000360820 human ensembl 69_37n +1 known missense c.2010 p.Q670H 0.064 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors SCYL2 HGNC ENSG00000136021 74 0 0.00 33 24 42.11 - - - SEMA6B 0 genome.wustl.edu 37 19 4555004 4555004 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 4555004 4555004 G A SNP SEMA6B ENST00000301293 human ensembl 69_37n -1 known silent c.666 p.D222 1.000 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag - no_errors SEMA6B HGNC ENSG00000167680 102 0 0.00 62 21 25.30 - - - SETBP1 0 genome.wustl.edu 37 18 42643634 42643634 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 18 42643634 42643634 C G SNP SETBP1 ENST00000282030 human ensembl 69_37n +1 known missense c.4762 p.R1588G 1.000 NULL smart_AT_hook_DNA-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 22 0 0.00 4 7 63.64 - - - SGK223 0 genome.wustl.edu 37 8 8175701 8175701 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 8 8175701 8175701 G A SNP SGK223 ENST00000330777 human ensembl 69_37n -1 known missense c.4184 p.S1395L 0.995 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom - no_errors PRAGMIN Clone_based_vega_gene ENSG00000182319 24 0 0.00 9 24 72.73 - - - SNAP91 0 genome.wustl.edu 37 6 84303249 84303249 + Silent SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 84303249 84303249 G A SNP SNAP91 ENST00000369694 human ensembl 69_37n -1 known silent c.1644 p.T548 1.000 NULL pfam_ANTH,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N - no_errors SNAP91 HGNC ENSG00000065609 97 0 0.00 75 70 48.28 - - - SNX8 0 genome.wustl.edu 37 7 2304030 2304030 + Missense_Mutation SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 7 2304030 2304030 A G SNP SNX8 ENST00000222990 human ensembl 69_37n -1 known missense c.685 p.Y229H 1.000 NULL pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX8 HGNC ENSG00000106266 57 0 0.00 30 37 54.41 - - - SPAG9 0 genome.wustl.edu 37 17 49091680 49091680 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 17 49091680 49091680 C G SNP SPAG9 ENST00000262013 human ensembl 69_37n -1 known missense c.1126 p.D376H 1.000 NULL pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom - no_errors SPAG9 HGNC ENSG00000008294 169 0 0.00 139 27 16.27 - - - SPOP 0 genome.wustl.edu 37 17 47688699 47688699 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 17 47688699 47688699 C G SNP SPOP ENST00000347630 human ensembl 69_37n -1 known missense c.601 p.D201H 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_MATH,superfamily_TRAF-like,superfamily_BTB/POZ_fold,smart_MATH,smart_BTB/POZ-like,pfscan_BTB/POZ-like,pfscan_MATH - no_errors SPOP HGNC ENSG00000121067 95 0 0.00 78 17 17.89 - - - SPRTN 0 genome.wustl.edu 37 1 231488731 231488731 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 231488731 231488731 C G SNP SPRTN ENST00000295050 human ensembl 69_37n +1 known missense c.1094 p.S365C 0.005 NULL pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 114 0 0.00 188 42 18.26 - - - SPTBN5 0 genome.wustl.edu 37 15 42144921 42144921 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 15 42144921 42144921 C G SNP SPTBN5 ENST00000320955 human ensembl 69_37n -1 known missense c.10360 p.D3454H 0.567 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN5 HGNC ENSG00000137877 69 0 0.00 32 22 40.74 - - - SRP68 0 genome.wustl.edu 37 17 74068454 74068454 + Missense_Mutation SNP T T C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 17 74068454 74068454 T C SNP SRP68 ENST00000307877 human ensembl 69_37n -1 known missense c.119 p.E40G 1.000 NULL NULL - no_errors SRP68 HGNC ENSG00000167881 46 0 0.00 54 67 55.37 - - - SRPK1 0 genome.wustl.edu 37 6 35836837 35836837 + Missense_Mutation SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 35836837 35836837 C T SNP SRPK1 ENST00000373825 human ensembl 69_37n -1 known missense c.1462 p.A488T 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_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 SRPK1 HGNC ENSG00000096063 209 0 0.00 143 129 47.43 - - - ST8SIA6 0 genome.wustl.edu 37 10 17363189 17363189 + Missense_Mutation SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 10 17363189 17363189 C A SNP ST8SIA6 ENST00000377602 human ensembl 69_37n -1 known missense c.885 p.K295N 0.893 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST8SIA6 HGNC ENSG00000148488 141 0 0.00 85 34 28.57 - - - STX12 0 genome.wustl.edu 37 1 28128254 28128254 + Missense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 28128254 28128254 G T SNP STX12 ENST00000373943 human ensembl 69_37n +1 known missense c.354 p.Q118H 1.000 superfamily_t-SNARE,smart_Syntaxin_N pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX12 HGNC ENSG00000117758 55 0 0.00 48 12 20.00 - - - SZT2 0 genome.wustl.edu 37 1 43907741 43907744 + Frame_Shift_Del DEL GAGC GAGC - TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 GAGC GAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 43907741 43907744 GAGC - DEL SZT2 ENST00000562955 human ensembl 69_37n +1 known frame_shift_del c.7642_7645 p.E2548fs 0.941:0.951:0.949:0.947 NULL NULL - no_errors SZT2 HGNC ENSG00000198198 74 0 0.00 51 19 27.14 - - - TAC1 0 genome.wustl.edu 37 7 97361936 97361936 + Silent SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 7 97361936 97361936 C G SNP TAC1 ENST00000319273 human ensembl 69_37n +1 known silent c.12 p.L4 1.000 prints_Protachykinin smart_Tachykinin,prints_Protachykinin - no_errors TAC1 HGNC ENSG00000006128 209 1 0.48 123 75 37.88 - - - TDRD10 0 genome.wustl.edu 37 1 154516883 154516883 + Silent SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 1 154516883 154516883 C A SNP TDRD10 ENST00000368480 human ensembl 69_37n +1 known silent c.687 p.T229 0.025 pfam_Tudor pfam_Tudor,pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors TDRD10 HGNC ENSG00000163239 28 0 0.00 34 33 49.25 - - - TET1 0 genome.wustl.edu 37 10 70405672 70405672 + Silent SNP T T C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 10 70405672 70405672 T C SNP TET1 ENST00000373644 human ensembl 69_37n +1 known silent c.3186 p.D1062 0.000 NULL pfam_Znf_CXXC,pfscan_Znf_CXXC - no_errors TET1 HGNC ENSG00000138336 84 0 0.00 70 44 38.60 - - - TP53 0 genome.wustl.edu 37 17 7578403 7578403 + Missense_Mutation SNP C C A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 17 7578403 7578403 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.527 p.C176F 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 72 0 0.00 31 41 56.94 - - - TPD52L1 0 genome.wustl.edu 37 6 125569511 125569511 + Missense_Mutation SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 6 125569511 125569511 A G SNP TPD52L1 ENST00000534000 human ensembl 69_37n +1 known missense c.368 p.K123R 1.000 pfam_TPD52 pfam_TPD52 - no_errors TPD52L1 HGNC ENSG00000111907 99 1 1.00 85 14 14.14 - - - TRIM34 0 genome.wustl.edu 37 11 5624731 5624731 + Nonsense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 11 5624731 5624731 C G SNP TRIM34 ENST00000337072 human ensembl 69_37n +1 known nonsense c.273 p.Y91* 0.975 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM34 HGNC ENSG00000258659 125 0 0.00 116 33 22.00 - - - TSC2 0 genome.wustl.edu 37 16 2112513 2112513 + Missense_Mutation SNP A A T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 16 2112513 2112513 A T SNP TSC2 ENST00000219476 human ensembl 69_37n +1 known missense c.1273 p.N425Y 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP,superfamily_ARM-type_fold,prints_Tuberin,pfscan_Rap_GAP - no_errors TSC2 HGNC ENSG00000103197 85 0 0.00 61 18 22.78 - - - TTC3 0 genome.wustl.edu 37 21 38525425 38525425 + Missense_Mutation SNP G G A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 21 38525425 38525425 G A SNP TTC3 ENST00000354749 human ensembl 69_37n +1 known missense c.2588 p.R863K 0.190 superfamily_DEATH-like 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 95 0 0.00 75 13 14.77 - - - TTN 0 genome.wustl.edu 37 2 179443774 179443774 + Missense_Mutation SNP C C G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 179443774 179443774 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.60279 p.M20093I 0.510 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 179 1 0.56 213 30 12.35 - - - UNC80 0 genome.wustl.edu 37 2 210761052 210761052 + Missense_Mutation SNP G G C TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 2 210761052 210761052 G C SNP UNC80 ENST00000439458 human ensembl 69_37n +1 known missense c.4298 p.S1433T 1.000 NULL NULL - no_errors UNC80 HGNC ENSG00000144406 202 0 0.00 81 77 48.73 - - - WFDC6 0 genome.wustl.edu 37 20 44168036 44168036 + Nonsense_Mutation SNP G G T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 20 44168036 44168036 G T SNP WFDC6 ENST00000372670 human ensembl 69_37n -1 known nonsense c.11 p.S4* 0.000 NULL pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core - no_errors WFDC6 HGNC ENSG00000243543 111 0 0.00 169 28 14.21 - - - ZNF512B 0 genome.wustl.edu 37 20 62597959 62597959 + Missense_Mutation SNP T T A TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 20 62597959 62597959 T A SNP ZNF512B ENST00000217130 human ensembl 69_37n -1 known missense c.569 p.K190M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF512B HGNC ENSG00000196700 99 0 0.00 213 41 16.08 - - - ZNF536 0 genome.wustl.edu 37 19 31039063 31039063 + Missense_Mutation SNP C C T TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 31039063 31039063 C T SNP ZNF536 ENST00000355537 human ensembl 69_37n +1 known missense c.2537 p.P846L 0.996 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 43 0 0.00 97 19 16.38 - - - ZNF780A 0 genome.wustl.edu 37 19 40581287 40581287 + Silent SNP A A G TCGA-D8-A147-01A-11D-A10Y-09 TCGA-D8-A147-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1f292323-cafc-4e45-bb4e-f5428e1a3276 4e55052d-a439-4da0-b799-29bd2d174444 19 40581287 40581287 A G SNP ZNF780A ENST00000455521 human ensembl 69_37n -1 known silent c.1065 p.I355 0.336 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 ZNF780A HGNC ENSG00000197782 174 1 0.57 251 35 12.24 - - -