Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val DNHD1 0 genome.wustl.edu 37 11 6579248 6579248 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 11 6579248 6579248 G T SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.8723 p.C2908F 0.706 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SRE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 47 0 0.00 39 17 30.36 53 0 0.00 28 6 17.65 CFTR 0 genome.wustl.edu 37 7 117175332 117175332 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 117175332 117175332 G A SNP CFTR ENST00000003084 human ensembl 74_37 +1 known missense c.610 p.A204T 0.969 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,prints_CysFib_conduc_TM,tigrfam_cAMP_cl_channel - no_errors CFTR HGNC ENSG00000001626 tier1 - - 115 0 0.00 47 13 21.67 68 0 0.00 91 14 13.33 DJB9 0 genome.wustl.edu 37 7 108213494 108213494 + Silent SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 108213494 108213494 C A SNP DJB9 ENST00000249356 human ensembl 74_37 +1 known silent c.369 p.G123 0.993 NULL pfam_DnaJ_domain,superfamily_DnaJ_domain,smart_DnaJ_domain,pfscan_DnaJ_domain,prints_DnaJ_domain - no_errors DJB9 HGNC ENSG00000128590 tier1 - - 27 0 0.00 56 9 13.85 102 0 0.00 121 16 11.68 IRF8 0 genome.wustl.edu 37 16 85946797 85946797 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 16 85946797 85946797 C T SNP IRF8 ENST00000268638 human ensembl 74_37 +1 known missense c.508 p.R170W 0.997 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_D-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_D-bd_dom,prints_Interferon_reg_fact_D-bd_dom - no_errors IRF8 HGNC ENSG00000140968 tier1 - - 27 0 0.00 32 5 13.51 39 0 0.00 34 6 15.00 KCNC3 0 genome.wustl.edu 37 19 50823861 50823861 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 19 50823861 50823861 G T SNP KCNC3 ENST00000477616 human ensembl 74_37 -1 known missense c.2159 p.S720Y 1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 tier1 - - 115 0 0.00 182 24 11.65 32 0 0.00 23 5 17.86 HRH2 0 genome.wustl.edu 37 5 175112423 175112423 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 5 175112423 175112423 G T SNP HRH2 ENST00000377291 human ensembl 74_37 +1 known missense c.1088 p.C363F 0.009 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Histamine_H2_rcpt,prints_GPCR_Rhodpsn,prints_5HT6_rcpt - no_errors HRH2 HGNC ENSG00000113749 tier1 - - 25 0 0.00 45 9 16.67 66 0 0.00 70 15 17.65 DH11 0 genome.wustl.edu 37 7 21788256 21788256 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 21788256 21788256 G T SNP DH11 ENST00000328843 human ensembl 74_37 +1 known missense c.8590 p.G2864W 0.999 superfamily_P-loop_NTPase,smart_AAA+_ATPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH11 HGNC ENSG00000105877 tier1 - - 41 0 0.00 21 10 32.26 76 0 0.00 50 17 25.37 SDK2 0 genome.wustl.edu 37 17 71443849 71443849 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 17 71443849 71443849 G A SNP SDK2 ENST00000392650 human ensembl 74_37 -1 known missense c.518 p.T173M 0.193 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors SDK2 HGNC ENSG00000069188 tier1 - - 61 0 0.00 60 26 30.23 83 0 0.00 55 24 30.38 DGKG 0 genome.wustl.edu 37 3 185979537 185979537 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 3 185979537 185979537 G T SNP DGKG ENST00000265022 human ensembl 74_37 -1 known missense c.1300 p.P434T 1.000 smart_Diacylglycerol_kinase_cat_dom pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 tier1 - - 18 0 0.00 32 7 17.95 39 0 0.00 30 10 25.00 CCDC173 0 genome.wustl.edu 37 2 170502675 170502675 + Missense_Mutation SNP A A C TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 2 170502675 170502675 A C SNP CCDC173 ENST00000447353 human ensembl 74_37 -1 known missense c.1335 p.N445K 0.084 NULL NULL - no_errors CCDC173 HGNC ENSG00000154479 tier1 - - 79 0 0.00 44 18 29.03 91 0 0.00 66 14 17.50 ZNF831 0 genome.wustl.edu 37 20 57766916 57766916 + Missense_Mutation SNP A A T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 20 57766916 57766916 A T SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.842 p.D281V 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 93 0 0.00 108 62 36.47 29 0 0.00 32 20 38.46 REXO4 0 genome.wustl.edu 37 9 136272155 136272155 + Silent SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 9 136272155 136272155 C T SNP REXO4 ENST00000371942 human ensembl 74_37 -1 known silent c.1191 p.V397 1.000 superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 tier1 - - 51 0 0.00 53 71 57.26 28 0 0.00 27 40 59.70 PAX4 0 genome.wustl.edu 37 7 127253883 127253883 + Silent SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 127253883 127253883 C A SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known silent c.465 p.R155 0.998 superfamily_Homeodomain-like pfam_Paired_dom,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Paired_dom,prints_Paired_dom - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 53 0 0.00 78 19 19.59 78 0 0.00 74 25 25.25 RER1 0 genome.wustl.edu 37 1 2332374 2332374 + Missense_Mutation SNP G G C TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 1 2332374 2332374 G C SNP RER1 ENST00000488353 human ensembl 74_37 +1 known missense c.365 p.W122S 1.000 pfam_Rer1,pirsf_Rer1 pfam_Rer1,pirsf_Rer1 - no_errors RER1 HGNC ENSG00000157916 tier1 - - 59 0 0.00 47 35 42.17 123 0 0.00 56 29 34.12 C5orf42 0 genome.wustl.edu 37 5 37227105 37227105 + Missense_Mutation SNP C C G TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 5 37227105 37227105 C G SNP C5orf42 ENST00000425232 human ensembl 74_37 -1 known missense c.1592 p.R531T 0.001 NULL superfamily_Quino_amine_DH_bsu - no_errors C5orf42 HGNC ENSG00000197603 tier1 - - 30 0 0.00 41 7 14.58 66 0 0.00 144 24 14.29 LOC284788 0 genome.wustl.edu 37 20 22381195 22381195 + R SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 20 22381195 22381195 G A SNP LOC284788 ENST00000377121 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP5-1004I9.1 Clone_based_vega_gene ENSG00000204684 tier1 - - 116 0 0.00 36 11 23.40 87 0 0.00 97 23 18.85 TRPM8 0 genome.wustl.edu 37 2 234875370 234875370 + Missense_Mutation SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 2 234875370 234875370 C A SNP TRPM8 ENST00000324695 human ensembl 74_37 +1 known missense c.1996 p.Q666K 1.000 NULL pfam_Ion_trans_dom - no_errors TRPM8 HGNC ENSG00000144481 tier1 - - 40 0 0.00 37 4 9.76 60 0 0.00 31 4 11.43 CCDC178 0 genome.wustl.edu 37 18 30928934 30928934 + Missense_Mutation SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 18 30928934 30928934 C A SNP CCDC178 ENST00000406524 human ensembl 74_37 -1 known missense c.377 p.R126I 0.005 NULL NULL - no_errors CCDC178 HGNC ENSG00000166960 tier1 - - 31 0 0.00 26 13 33.33 91 0 0.00 84 14 14.29 SNORD56 0 genome.wustl.edu 37 20 2637331 2637331 + R SNP G G C TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 20 2637331 2637331 G C SNP SNORD56 ENST00000413522 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORD56 HGNC ENSG00000229686 tier1 - - 82 0 0.00 95 11 10.38 97 0 0.00 72 11 13.10 MATN3 0 genome.wustl.edu 37 2 20205563 20205563 + Silent SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 2 20205563 20205563 G A SNP MATN3 ENST00000407540 human ensembl 74_37 -1 known silent c.732 p.Y244 0.372 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Matrilin_coiled-coil_trimer,pfam_EGF-like_Ca-bd_dom,smart_VWF_A,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_VWF_A - no_errors MATN3 HGNC ENSG00000132031 tier1 - - 50 0 0.00 43 22 33.85 89 0 0.00 56 19 25.33 DCDC1 0 genome.wustl.edu 37 11 31128498 31128498 + Nonsense_Mutation SNP T T A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 11 31128498 31128498 T A SNP DCDC1 ENST00000597505 human ensembl 74_37 -1 putative nonsense c.1597 p.K533* 0.111 NULL pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Doublecortin_dom,pfscan_Doublecortin_dom,pfscan_Ricin_B_lectin - no_errors DCDC1 HGNC ENSG00000170959 tier1 - - 104 0 0.00 22 11 33.33 107 0 0.00 83 26 23.85 DMBT1 0 genome.wustl.edu 37 10 124335918 124335918 + Missense_Mutation SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 10 124335918 124335918 C A SNP DMBT1 ENST00000338354 human ensembl 74_37 +1 known missense c.287 p.S96Y 0.000 superfamily_Srcr_rcpt-rel pfam_SRCR,pfam_CUB_dom,pfam_ZP_dom,superfamily_Srcr_rcpt-rel,superfamily_CUB_dom,smart_Srcr_rcpt-rel,smart_CUB_dom,smart_ZP_dom,pfscan_CUB_dom,pfscan_SRCR,pfscan_ZP_dom,prints_SRCR - no_errors DMBT1 HGNC ENSG00000187908 tier1 - - 131 0 0.00 126 42 25.00 61 0 0.00 27 17 38.64 SPATA31D5P 0 genome.wustl.edu 37 9 84533237 84533237 + R SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 9 84533237 84533237 C T SNP SPATA31D5P ENST00000527857 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors SPATA31D5P HGNC ENSG00000240632 tier1 - - 54 0 0.00 20 14 41.18 51 0 0.00 19 23 54.76 KRT73 0 genome.wustl.edu 37 12 53005034 53005034 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 12 53005034 53005034 C T SNP KRT73 ENST00000305748 human ensembl 74_37 -1 known missense c.1064 p.R355H 0.964 pfam_IF,superfamily_Prefoldin pfam_IF,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT73 HGNC ENSG00000186049 tier1 - - 69 0 0.00 43 19 30.65 90 0 0.00 47 25 34.72 CDH3 0 genome.wustl.edu 37 16 68721584 68721584 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 16 68721584 68721584 G T SNP CDH3 ENST00000264012 human ensembl 74_37 +1 known missense c.1740 p.Q580H 0.988 superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH3 HGNC ENSG00000062038 tier1 - - 29 0 0.00 41 5 10.87 117 0 0.00 84 24 22.22 FLG 0 genome.wustl.edu 37 1 152277218 152277218 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 1 152277218 152277218 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.10144 p.R3382C 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs147066553 - 180 0 0.00 131 46 25.99 19 0 0.00 22 3 12.00 C2orf43 0 genome.wustl.edu 37 2 20939958 20939958 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 2 20939958 20939958 C T SNP C2orf43 ENST00000237822 human ensembl 74_37 -1 known missense c.476 p.R159H 0.053 pfam_DUF2305 pfam_DUF2305 - no_errors C2orf43 HGNC ENSG00000118961 tier1 - - 20 0 0.00 9 4 30.77 98 1 1.00 79 27 25.47 TRPS1 0 genome.wustl.edu 37 8 116616855 116616855 + Nonsense_Mutation SNP G G C TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 8 116616855 116616855 G C SNP TRPS1 ENST00000395715 human ensembl 74_37 -1 known nonsense c.1341 p.Y447* 1.000 smart_Znf_C2H2-like pfam_Znf_GATA,smart_Znf_C2H2-like,smart_Znf_GATA,pfscan_Znf_C2H2,pfscan_Znf_GATA,prints_Znf_GATA - no_errors TRPS1 HGNC ENSG00000104447 tier1 - - 41 0 0.00 14 4 22.22 58 0 0.00 37 23 38.33 FAM83E 0 genome.wustl.edu 37 19 49104467 49104467 + Nonsense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 19 49104467 49104467 G A SNP FAM83E ENST00000263266 human ensembl 74_37 -1 known nonsense c.1336 p.R446* 0.023 NULL pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase - no_errors FAM83E HGNC ENSG00000105523 tier1 - - 43 0 0.00 64 6 8.57 12 0 0.00 26 9 25.71 FLJ36000 0 genome.wustl.edu 37 17 21911095 21911095 + R SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 17 21911095 21911095 C T SNP FLJ36000 ENST00000581223 human ensembl 74_37 +1 known rna NULL NULL 0.224 - - - no_errors RP11-744K17.9 Clone_based_vega_gene ENSG00000266795 tier1 - - 18 0 0.00 17 8 30.77 14 0 0.00 11 3 21.43 DGKK 0 genome.wustl.edu 37 X 50134456 50134456 + R SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e X 50134456 50134456 G T SNP DGKK ENST00000376025 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DGKK HGNC ENSG00000204466 tier1 - - 46 0 0.00 15 5 25.00 44 0 0.00 58 9 13.43 ADAMTS9 0 genome.wustl.edu 37 3 64527528 64527528 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 3 64527528 64527528 C T SNP ADAMTS9 ENST00000498707 human ensembl 74_37 -1 known missense c.5183 p.R1728H 0.894 pfam_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS9 HGNC ENSG00000163638 tier1 rs202044216 - 74 0 0.00 46 18 28.12 107 0 0.00 96 33 25.58 REXO4 0 genome.wustl.edu 37 9 136272961 136272961 + Silent SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 9 136272961 136272961 C A SNP REXO4 ENST00000371942 human ensembl 74_37 -1 known silent c.1119 p.G373 0.013 pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease pfam_Exonuclease_RNaseT/D_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease - no_errors REXO4 HGNC ENSG00000148300 tier1 - - 40 0 0.00 110 97 46.86 84 0 0.00 118 118 50.00 CAC2D1 0 genome.wustl.edu 37 7 81643716 81643716 + Splice_Site SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 81643716 81643716 C T SNP CAC2D1 ENST00000356253 human ensembl 74_37 -1 known splice_site c.1222+1 e13+1 1.000 - - - no_errors CAC2D1 HGNC ENSG00000153956 tier1 - - 52 0 0.00 15 8 34.78 79 0 0.00 70 17 19.54 XPNPEP1 0 genome.wustl.edu 37 10 111667471 111667471 + Missense_Mutation SNP A A T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 10 111667471 111667471 A T SNP XPNPEP1 ENST00000502935 human ensembl 74_37 -1 known missense c.224 p.I75N 1.000 pfam_Creatinase pfam_Pept_M24_structural-domain,pfam_Creatinase,superfamily_Pept_M24_structural-domain - no_errors XPNPEP1 HGNC ENSG00000108039 tier1 - - 61 0 0.00 43 6 12.24 75 1 1.30 61 13 17.57 TCF12 0 genome.wustl.edu 37 15 57578959 57578959 + R SNP T T C TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 15 57578959 57578959 T C SNP TCF12 ENST00000560191 human ensembl 74_37 +1 putative rna NULL NULL 1.000 - - - no_errors TCF12 HGNC ENSG00000140262 tier1 - - 23 0 0.00 19 9 32.14 71 0 0.00 49 19 27.94 USH2A 0 genome.wustl.edu 37 1 215953333 215953333 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 1 215953333 215953333 G T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.10791 p.S3597R 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 28 0 0.00 21 4 16.00 57 0 0.00 36 9 20.00 AMBRA1 0 genome.wustl.edu 37 11 46564792 46564792 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 11 46564792 46564792 G T SNP AMBRA1 ENST00000458649 human ensembl 74_37 -1 known missense c.775 p.Q259K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors AMBRA1 HGNC ENSG00000110497 tier1 - - 16 0 0.00 26 10 27.78 26 0 0.00 24 7 22.58 PGK2 0 genome.wustl.edu 37 6 49754699 49754699 + Missense_Mutation SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 6 49754699 49754699 C A SNP PGK2 ENST00000304801 human ensembl 74_37 -1 known missense c.202 p.D68Y 1.000 pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase pfam_Phosphoglycerate_kinase,superfamily_Phosphoglycerate_kinase,prints_Phosphoglycerate_kinase - no_errors PGK2 HGNC ENSG00000170950 tier1 - - 55 0 0.00 7 4 36.36 74 0 0.00 45 27 37.50 C12orf55 0 genome.wustl.edu 37 12 97254611 97254611 + Silent SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 12 97254611 97254611 C A SNP C12orf55 ENST00000524981 human ensembl 74_37 +1 putative silent c.9186 p.I3062 0.185 NULL superfamily_Fibronectin_type3 - no_errors C12orf55 HGNC ENSG00000188596 tier1 - - 58 0 0.00 42 8 16.00 62 1 1.59 106 23 17.83 NOS3 0 genome.wustl.edu 37 7 150710438 150710438 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 150710438 150710438 G T SNP NOS3 ENST00000297494 human ensembl 74_37 +1 known missense c.3226 p.A1076S 1.000 pfam_OxRdtase_FAD/D-bd,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/D-bd,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,pirsf_NOS_euk,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS3 HGNC ENSG00000164867 tier1 - - 62 0 0.00 72 15 17.24 58 0 0.00 24 15 38.46 PRKCQ 0 genome.wustl.edu 37 10 6540493 6540493 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 10 6540493 6540493 G A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.407 p.T136M 0.000 pirsf_Prot_kin_PKC_delta pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 tier1 - - 63 0 0.00 45 5 10.00 86 0 0.00 38 5 11.63 PTPRH 0 genome.wustl.edu 37 19 55720830 55720830 + R SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 19 55720830 55720830 G T SNP PTPRH ENST00000587662 human ensembl 74_37 -1 known rna NULL NULL 0.124 - - - no_errors PTPRH HGNC ENSG00000080031 tier1 - - 14 0 0.00 27 6 18.18 57 0 0.00 75 17 18.48 SEMA6B 0 genome.wustl.edu 37 19 4556091 4556091 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 19 4556091 4556091 C T SNP SEMA6B ENST00000301293 human ensembl 74_37 -1 known missense c.380 p.R127Q 1.000 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,pfscan_Semap_dom - no_errors SEMA6B HGNC ENSG00000167680 tier1 - - 61 0 0.00 57 19 25.00 45 0 0.00 46 20 30.30 TLN2 0 genome.wustl.edu 37 15 63029191 63029191 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 15 63029191 63029191 G A SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known missense c.3473 p.R1158Q 0.875 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 55 0 0.00 55 11 16.67 47 0 0.00 36 4 10.00 LRRC66 0 genome.wustl.edu 37 4 52862055 52862055 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 4 52862055 52862055 G A SNP LRRC66 ENST00000343457 human ensembl 74_37 -1 known missense c.1133 p.A378V 0.974 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC66 HGNC ENSG00000188993 tier1 - - 45 0 0.00 44 9 16.67 66 0 0.00 59 13 18.06 TP53 0 genome.wustl.edu 37 17 7578515 7578515 + Missense_Mutation SNP T T C TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 17 7578515 7578515 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.415 p.K139E 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 43 0 0.00 25 35 58.33 61 0 0.00 34 52 60.47 BAI3 0 genome.wustl.edu 37 6 69943233 69943233 + Silent SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 6 69943233 69943233 C A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known silent c.2532 p.T844 1.000 pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 62 0 0.00 53 14 20.90 96 0 0.00 87 24 21.62 LCP1 0 genome.wustl.edu 37 13 46717508 46717508 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 13 46717508 46717508 G T SNP LCP1 ENST00000323076 human ensembl 74_37 -1 known missense c.1285 p.L429I 1.000 pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain pfam_CH-domain,pfam_EF_hand_dom,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors LCP1 HGNC ENSG00000136167 tier1 - - 77 0 0.00 58 11 15.94 125 0 0.00 70 24 25.53 SOX30 0 genome.wustl.edu 37 5 157075723 157075723 + Missense_Mutation SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 5 157075723 157075723 C A SNP SOX30 ENST00000265007 human ensembl 74_37 -1 known missense c.1149 p.K383N 1.000 pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors SOX30 HGNC ENSG00000039600 tier1 - - 52 0 0.00 90 26 22.41 129 0 0.00 106 29 21.48 GPR6 0 genome.wustl.edu 37 6 110300822 110300822 + Silent SNP C C G TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 6 110300822 110300822 C G SNP GPR6 ENST00000414000 human ensembl 74_37 +1 known silent c.552 p.S184 0.895 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPR6,prints_GPR_3/6/12_orphan,prints_GPCR_Rhodpsn - no_errors GPR6 HGNC ENSG00000146360 tier1 - - 38 0 0.00 52 6 10.34 43 0 0.00 36 4 10.00 PIGR 0 genome.wustl.edu 37 1 207110639 207110639 + Silent SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 1 207110639 207110639 G A SNP PIGR ENST00000356495 human ensembl 74_37 -1 known silent c.846 p.V282 0.767 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors PIGR HGNC ENSG00000162896 tier1 rs142351595 - 43 0 0.00 43 8 15.69 76 0 0.00 39 5 11.36 FAM27L 0 genome.wustl.edu 37 17 21825355 21825355 + R SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 17 21825355 21825355 C T SNP FAM27L ENST00000426869 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors FAM27L HGNC ENSG00000178130 tier1 - - 27 0 0.00 27 4 12.90 61 0 0.00 33 4 10.81 SORCS3 0 genome.wustl.edu 37 10 106970991 106970991 + Silent SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 10 106970991 106970991 C T SNP SORCS3 ENST00000369701 human ensembl 74_37 +1 known silent c.2358 p.S786 1.000 smart_VPS10 pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,pfscan_PKD_dom - no_errors SORCS3 HGNC ENSG00000156395 tier1 - - 42 0 0.00 20 7 25.93 138 0 0.00 120 30 20.00 HNRNPL 0 genome.wustl.edu 37 19 39329656 39329656 + Splice_Site SNP C C G TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 19 39329656 39329656 C G SNP HNRNPL ENST00000221419 human ensembl 74_37 -1 known splice_site c.1234-1 e9-1 1.000 - - - no_errors HNRNPL HGNC ENSG00000104824 tier1 - - 45 0 0.00 89 14 13.59 58 0 0.00 60 12 16.67 SDSL 0 genome.wustl.edu 37 12 113875883 113875883 + Nonstop_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 12 113875883 113875883 G T SNP SDSL ENST00000345635 human ensembl 74_37 +1 known nonstop c.989 p.*330L 0.242 NULL pfam_Trp_syn_b_sub_like_PLP_eny_SF,superfamily_Trp_syn_b_sub_like_PLP_eny_SF - no_errors SDSL HGNC ENSG00000139410 tier1 - - 51 0 0.00 56 8 12.50 71 0 0.00 43 11 20.37 BRINP2 0 genome.wustl.edu 37 1 177245380 177245380 + Silent SNP T T C TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 1 177245380 177245380 T C SNP BRINP2 ENST00000361539 human ensembl 74_37 +1 known silent c.822 p.A274 0.001 smart_MACPF pfam_MACPF,smart_MACPF - no_errors BRINP2 HGNC ENSG00000198797 tier1 - - 58 0 0.00 37 13 26.00 18 0 0.00 10 3 23.08 SNORA76 0 genome.wustl.edu 37 17 62223815 62223815 + R SNP A A T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 17 62223815 62223815 A T SNP SNORA76 ENST00000408535 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors SNORA76 HGNC ENSG00000266402 tier1 - - 45 0 0.00 28 34 54.84 48 0 0.00 20 19 48.72 FLNB 0 genome.wustl.edu 37 3 58120362 58120362 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 3 58120362 58120362 C T SNP FLNB ENST00000295956 human ensembl 74_37 +1 known missense c.4534 p.L1512F 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 FLNB HGNC ENSG00000136068 tier1 - - 67 0 0.00 60 23 27.71 80 0 0.00 49 14 22.22 NGB 0 genome.wustl.edu 37 14 77732947 77732947 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 14 77732947 77732947 G A SNP NGB ENST00000298352 human ensembl 74_37 -1 known missense c.388 p.R130W 0.054 superfamily_Globin-like,pfscan_Globin pfam_Globin,superfamily_Globin-like,pfscan_Globin - no_errors NGB HGNC ENSG00000165553 tier1 - - 68 0 0.00 68 17 20.00 22 0 0.00 11 2 15.38 FKBP9L 0 genome.wustl.edu 37 7 55750501 55750501 + R SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 55750501 55750501 G A SNP FKBP9L ENST00000455909 human ensembl 74_37 -1 known rna NULL NULL 0.951 - - - no_errors FKBP9L HGNC ENSG00000176826 tier1 rs200141514 - 62 0 0.00 74 34 31.19 57 0 0.00 38 24 38.71 PCDH11Y 0 genome.wustl.edu 37 Y 4967352 4967352 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e Y 4967352 4967352 G T SNP PCDH11Y ENST00000215473 human ensembl 74_37 +1 known missense c.1733 p.G578V 0.997 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH11Y HGNC ENSG00000099715 tier1 - - 16 0 0.00 5 6 54.55 45 0 0.00 25 22 46.81 HYDIN 0 genome.wustl.edu 37 16 70926319 70926319 + Missense_Mutation SNP A A T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 16 70926319 70926319 A T SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.9362 p.F3121Y 0.012 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 112 0 0.00 98 9 8.41 181 0 0.00 154 21 12.00 GRM3 0 genome.wustl.edu 37 7 86415655 86415655 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 7 86415655 86415655 C T SNP GRM3 ENST00000361669 human ensembl 74_37 +1 known missense c.547 p.R183C 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_GABA_rcpt_B - no_errors GRM3 HGNC ENSG00000198822 tier1 - - 51 0 0.00 59 32 35.16 79 0 0.00 53 41 43.62 USP47 0 genome.wustl.edu 37 11 11970051 11970052 + Frame_Shift_Ins INS - - A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 - - - A - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 11 11970051 11970052 - A INS USP47 ENST00000399455 human ensembl 74_37 +1 known frame_shift_ins c.3354_3355 p.G1120fs 0.999:1.000 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP47 HGNC ENSG00000170242 tier1 21 0 0.00 13 5 27.78 84 0 0.00 70 19 21.35 ATP12A 0 genome.wustl.edu 37 13 25265371 25265371 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 13 25265371 25265371 C T SNP ATP12A ENST00000218548 human ensembl 74_37 +1 known missense c.1069 p.L357F 1.000 pfam_ATPase_P-typ_transduc_dom_A,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_ATPase_P-typ_cation-transptr_C,pfam_HAD-like_dom,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_P-typ_cyto_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Na/K_IIC,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP12A HGNC ENSG00000075673 tier1 - - 29 0 0.00 17 14 45.16 10 0 0.00 5 7 58.33 CHD1 0 genome.wustl.edu 37 5 98236915 98236915 + Missense_Mutation SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 5 98236915 98236915 C A SNP CHD1 ENST00000284049 human ensembl 74_37 -1 known missense c.562 p.V188F 1.000 NULL pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD1 HGNC ENSG00000153922 tier1 - - 52 0 0.00 103 9 8.04 129 0 0.00 113 9 7.38 TLR1 0 genome.wustl.edu 37 4 38798892 38798892 + Missense_Mutation SNP C C A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 4 38798892 38798892 C A SNP TLR1 ENST00000308979 human ensembl 74_37 -1 known missense c.1561 p.A521S 0.887 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR1 HGNC ENSG00000174125 tier1 - - 98 0 0.00 99 13 11.61 69 0 0.00 96 9 8.57 NLRP4 0 genome.wustl.edu 37 19 56369584 56369584 + Silent SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 19 56369584 56369584 G T SNP NLRP4 ENST00000301295 human ensembl 74_37 +1 known silent c.825 p.L275 0.965 superfamily_P-loop_NTPase,pfscan_CHT_NTPase pfam_DAPIN,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_DAPIN - no_errors NLRP4 HGNC ENSG00000160505 tier1 - - 61 0 0.00 80 8 9.09 106 1 0.93 134 7 4.96 RPL3L 0 genome.wustl.edu 37 16 2003015 2003015 + Silent SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 16 2003015 2003015 C T SNP RPL3L ENST00000268661 human ensembl 74_37 -1 known silent c.225 p.A75 0.002 pfam_Ribosomal_L3,superfamily_Transl_B-barrel pfam_Ribosomal_L3,superfamily_Transl_B-barrel - no_errors RPL3L HGNC ENSG00000140986 tier1 - - 32 0 0.00 60 9 13.04 76 0 0.00 55 6 9.84 GSTCD 0 genome.wustl.edu 37 4 106763272 106763272 + Silent SNP A A T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 4 106763272 106763272 A T SNP GSTCD ENST00000360505 human ensembl 74_37 +1 known silent c.1746 p.P582 0.729 NULL pfam_rR_ssu_MeTfrase_G,pfam_Small_mtfrase_dom,superfamily_Glutathione-S-Trfase_C-like - no_errors GSTCD HGNC ENSG00000138780 tier1 - - 24 0 0.00 37 8 17.78 91 0 0.00 128 9 6.52 PSD2 0 genome.wustl.edu 37 5 139197095 139197095 + Missense_Mutation SNP A A T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 5 139197095 139197095 A T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known missense c.1046 p.E349V 1.000 pfam_Sec7_dom,superfamily_Sec7_dom,smart_Sec7_dom,pfscan_Sec7_dom pfam_Sec7_dom,pfam_Pleckstrin_homology,superfamily_Sec7_dom,smart_Sec7_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7_dom,prints_PH_dom-spectrin-type - no_errors PSD2 HGNC ENSG00000146005 tier1 - - 71 0 0.00 119 11 8.40 88 0 0.00 105 6 5.41 MMAA 0 genome.wustl.edu 37 4 146575181 146575181 + Missense_Mutation SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 4 146575181 146575181 G T SNP MMAA ENST00000511969 human ensembl 74_37 +1 known missense c.769 p.G257C 1.000 NULL pfam_ArgK,superfamily_P-loop_NTPase - no_errors MMAA HGNC ENSG00000151611 tier1 - - 41 0 0.00 66 6 8.33 73 0 0.00 64 5 7.25 TMCC3 0 genome.wustl.edu 37 12 94975900 94975900 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 12 94975900 94975900 G A SNP TMCC3 ENST00000261226 human ensembl 74_37 -1 known missense c.493 p.R165C 0.935 pfam_Predicted_TM_coiled-coil_2 pfam_Predicted_TM_coiled-coil_2 - no_errors TMCC3 HGNC ENSG00000057704 tier1 - - 54 0 0.00 68 7 9.33 96 0 0.00 92 6 6.12 DIDO1 0 genome.wustl.edu 37 20 61512209 61512209 + Frame_Shift_Del DEL T T - TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 20 61512209 61512209 T - DEL DIDO1 ENST00000266070 human ensembl 74_37 -1 known frame_shift_del c.5099 p.Y1700fs 0.475 NULL pfam_TFIIS_cen_dom,pfam_SPOC_C,pfam_Znf_PHD-finger,superfamily_TFIIS_cen_dom,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_TFS2M,pfscan_Znf_PHD-finger - no_errors DIDO1 HGNC ENSG00000101191 tier1 42 0 0.00 68 10 12.82 34 0 0.00 42 4 8.70 ECEL1P2 0 genome.wustl.edu 37 2 233251555 233251555 + R SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 2 233251555 233251555 G A SNP ECEL1P2 ENST00000461596 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ECEL1P2 HGNC ENSG00000244280 tier1 - - 61 0 0.00 64 6 8.57 14 0 0.00 7 0 0.00 HIST2H2BF 0 genome.wustl.edu 37 1 149783702 149783702 + Silent SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 1 149783702 149783702 G A SNP HIST2H2BF ENST00000427880 human ensembl 74_37 -1 known silent c.177 p.A59 1.000 pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B - no_errors HIST2H2BF HGNC ENSG00000203814 tier1 - - 110 0 0.00 67 90 57.32 5 0 0.00 0 1 100.00 ENSG00000215398 0 genome.wustl.edu 37 14 19114730 19114730 + R SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 14 19114730 19114730 G T SNP ENSG00000215398 ENST00000553170 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-754I20.1 Clone_based_vega_gene ENSG00000215398 tier1 - - 196 0 0.00 142 18 11.25 1 0 0.00 1 0 0.00 KRTAP5-2 0 genome.wustl.edu 37 11 1619355 1619355 + Nonsense_Mutation SNP A A T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 11 1619355 1619355 A T SNP KRTAP5-2 ENST00000412090 human ensembl 74_37 -1 known nonsense c.126 p.C42* 0.868 NULL NULL - no_errors KRTAP5-2 HGNC ENSG00000205867 tier1 - - 84 0 0.00 65 22 23.91 3 0 0.00 1 0 0.00 LOC101927345 0 genome.wustl.edu 37 1 143378853 143378853 + R SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 1 143378853 143378853 C T SNP LOC101927345 ENST00000423394 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-435B5.5 Clone_based_vega_gene ENSG00000238261 tier1 rs200183428 - 144 1 0.69 31 6 16.22 0 0 0.00 0 0 0.00 ENSG00000234719 0 genome.wustl.edu 37 16 12021609 12021609 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 16 12021609 12021609 G A SNP ENSG00000234719 ENST00000399147 human ensembl 74_37 -1 putative missense c.815 p.T272I 0.000 NULL NULL - no_errors RP11-166B2.1 Clone_based_vega_gene ENSG00000234719 tier1 - - 37 0 0.00 30 5 13.89 3 0 0.00 1 2 66.67 PCDHB6 0 genome.wustl.edu 37 5 140531234 140531234 + Silent SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 5 140531234 140531234 C T SNP PCDHB6 ENST00000231136 human ensembl 74_37 +1 known silent c.1396 p.L466 0.198 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB6 HGNC ENSG00000113211 tier1 - - 108 0 0.00 191 37 16.23 4 0 0.00 7 2 22.22 SLC1A6 0 genome.wustl.edu 37 19 15083667 15083667 + Missense_Mutation SNP C C T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 19 15083667 15083667 C T SNP SLC1A6 ENST00000221742 human ensembl 74_37 -1 known missense c.56 p.R19Q 0.022 NULL pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A6 HGNC ENSG00000105143 tier1 - - 10 0 0.00 9 11 55.00 1 0 0.00 4 2 33.33 EDN3 0 genome.wustl.edu 37 20 57896081 57896081 + Silent SNP G G T TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 20 57896081 57896081 G T SNP EDN3 ENST00000337938 human ensembl 74_37 +1 known silent c.375 p.V125 1.000 prints_Bibrotoxin/Sarafotoxin-D pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN3 HGNC ENSG00000124205 tier1 - - 49 0 0.00 106 16 13.11 61 0 0.00 109 3 2.68 RIC8A 0 genome.wustl.edu 37 11 212446 212446 + Missense_Mutation SNP G G A TCGA-DX-A1L1-01A-11D-A24N-09 TCGA-DX-A1L1-10A-01D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 30c48200-0b11-4628-a643-ecba777aad1c 5bdd61e4-1fc4-453c-aeda-9c0a0408914e 11 212446 212446 G A SNP RIC8A ENST00000325207 human ensembl 74_37 +1 known missense c.1000 p.V334M 0.993 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 tier1 - - 60 0 0.00 61 10 14.08 44 0 0.00 31 3 8.82