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 CETN1 0 genome.wustl.edu 37 18 580481 580481 + Missense_Mutation SNP C C A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 18 580481 580481 C A SNP CETN1 ENST00000327228 human ensembl 74_37 +1 known missense c.73 p.L25I 1.000 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CETN1 HGNC ENSG00000177143 tier1 - - 22 0 0.00 6 10 62.50 52 0 0.00 17 30 62.50 CCDC144CP 0 genome.wustl.edu 37 17 20224677 20224677 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 20224677 20224677 G A SNP CCDC144CP ENST00000340196 human ensembl 74_37 +1 known rna NULL NULL 0.003 - - - no_errors CCDC144CP HGNC ENSG00000154898 tier1 - - 117 0 0.00 216 34 13.60 26 0 0.00 59 13 18.06 MAGI2 0 genome.wustl.edu 37 7 77797353 77797353 + Missense_Mutation SNP C C G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 7 77797353 77797353 C G SNP MAGI2 ENST00000354212 human ensembl 74_37 -1 known missense c.2476 p.V826L 0.981 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI2 HGNC ENSG00000187391 tier1 - - 88 0 0.00 83 37 30.83 79 0 0.00 104 48 31.37 MAP4 0 genome.wustl.edu 37 3 47950560 47950560 + Missense_Mutation SNP T T C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 3 47950560 47950560 T C SNP MAP4 ENST00000264724 human ensembl 74_37 -1 known missense c.1172 p.E391G 0.971 NULL pfam_MAP_tubulin-bd_rpt - no_errors MAP4 HGNC ENSG00000047849 tier1 - - 116 0 0.00 134 23 14.65 89 0 0.00 154 39 20.21 FOXS1 0 genome.wustl.edu 37 20 30433004 30433004 + Silent SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 20 30433004 30433004 G A SNP FOXS1 ENST00000375978 human ensembl 74_37 -1 known silent c.342 p.F114 1.000 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXS1 HGNC ENSG00000179772 tier1 - - 103 0 0.00 79 41 34.17 10 0 0.00 31 11 26.19 PATL1 0 genome.wustl.edu 37 11 59426412 59426412 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 59426412 59426412 G C SNP PATL1 ENST00000300146 human ensembl 74_37 -1 known missense c.353 p.P118R 1.000 pfam_Topo_II-assoc_PAT1 pfam_Topo_II-assoc_PAT1 - no_errors PATL1 HGNC ENSG00000166889 tier1 - - 24 0 0.00 27 10 27.03 72 0 0.00 75 20 21.05 CTNND2 0 genome.wustl.edu 37 5 11236827 11236827 + Silent SNP A A G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 5 11236827 11236827 A G SNP CTNND2 ENST00000304623 human ensembl 74_37 -1 known silent c.1737 p.F579 0.952 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND2 HGNC ENSG00000169862 tier1 - - 27 0 0.00 62 24 27.91 87 0 0.00 122 66 34.92 ABCC12 0 genome.wustl.edu 37 16 48122490 48122490 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 16 48122490 48122490 C T SNP ABCC12 ENST00000311303 human ensembl 74_37 -1 known silent c.3441 p.G1147 1.000 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like 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 - no_errors ABCC12 HGNC ENSG00000140798 tier1 - - 68 0 0.00 27 11 28.95 97 0 0.00 44 22 33.33 HTR3A 0 genome.wustl.edu 37 11 113857756 113857756 + Missense_Mutation SNP G G T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 113857756 113857756 G T SNP HTR3A ENST00000355556 human ensembl 74_37 +1 known missense c.1240 p.D414Y 0.582 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_A,prints_5HT3_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors HTR3A HGNC ENSG00000166736 tier1 - - 53 0 0.00 42 37 46.84 71 0 0.00 68 88 56.41 FUT1 0 genome.wustl.edu 37 19 49254184 49254184 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 19 49254184 49254184 C T SNP FUT1 ENST00000310160 human ensembl 74_37 -1 known missense c.355 p.A119T 0.000 pfam_Glyco_trans_11 pfam_Glyco_trans_11 - no_errors FUT1 HGNC ENSG00000174951 tier1 - - 104 0 0.00 59 33 34.74 5 0 0.00 14 2 12.50 ENSG00000236432 0 genome.wustl.edu 37 2 228110634 228110634 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 2 228110634 228110634 G A SNP ENSG00000236432 ENST00000396588 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC097662.2 Clone_based_vega_gene ENSG00000236432 tier1 - - 64 0 0.00 72 21 22.58 98 0 0.00 145 51 25.89 NBEA 0 genome.wustl.edu 37 13 36241588 36241588 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 13 36241588 36241588 C T SNP NBEA ENST00000310336 human ensembl 74_37 +1 known missense c.8479 p.R2827C 0.978 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom - no_errors NBEA HGNC ENSG00000172915 tier1 rs200699050 - 76 0 0.00 11 19 63.33 47 0 0.00 16 38 70.37 SLC12A5 0 genome.wustl.edu 37 20 44685180 44685180 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 20 44685180 44685180 C T SNP SLC12A5 ENST00000454036 human ensembl 74_37 +1 known silent c.3156 p.I1052 1.000 tigrfam_Na/K/Cl_cotransptS pfam_AA-permease/SLC12A_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS - no_errors SLC12A5 HGNC ENSG00000124140 tier1 - - 54 0 0.00 69 14 16.87 81 0 0.00 93 15 13.89 OR1B1 0 genome.wustl.edu 37 9 125391322 125391322 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 9 125391322 125391322 C T SNP OR1B1 ENST00000304833 human ensembl 74_37 -1 known missense c.493 p.V165I 0.001 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR1B1 HGNC ENSG00000171484 tier1 - - 32 0 0.00 47 7 12.96 71 0 0.00 99 26 20.80 DJC13 0 genome.wustl.edu 37 3 132186035 132186035 + Missense_Mutation SNP A A G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 3 132186035 132186035 A G SNP DJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.2086 p.K696E 1.000 superfamily_ARM-type_fold pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DJC13 HGNC ENSG00000138246 tier1 - - 37 0 0.00 15 4 21.05 76 0 0.00 80 13 13.98 IRAK2 0 genome.wustl.edu 37 3 10261427 10261427 + Missense_Mutation SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 3 10261427 10261427 G A SNP IRAK2 ENST00000256458 human ensembl 74_37 +1 known missense c.967 p.V323I 0.029 pfam_Prot_kinase_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_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors IRAK2 HGNC ENSG00000134070 tier1 rs200632552 GMAF=0.0005 93 0 0.00 64 8 11.11 32 0 0.00 51 17 25.00 LAMA5 0 genome.wustl.edu 37 20 60937454 60937454 + Splice_Site SNP A A T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 20 60937454 60937454 A T SNP LAMA5 ENST00000252999 human ensembl 74_37 -1 known splice_site c.450+2 e2+2 1.000 - - - no_errors LAMA5 HGNC ENSG00000130702 tier1 - - 66 0 0.00 67 30 30.30 52 0 0.00 89 37 29.37 PSMB8 0 genome.wustl.edu 37 6 32808751 32808751 + Silent SNP C C G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 6 32808751 32808751 C G SNP PSMB8 ENST00000374882 human ensembl 74_37 -1 known silent c.816 p.R272 0.772 NULL pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB8 HGNC ENSG00000204264 tier1 - - 57 0 0.00 30 25 45.45 71 0 0.00 62 41 39.81 NPTX2 0 genome.wustl.edu 37 7 98256505 98256505 + Missense_Mutation SNP A A G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 7 98256505 98256505 A G SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.917 p.D306G 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 tier1 - - 71 0 0.00 54 35 39.33 41 0 0.00 41 30 42.25 TP53 0 genome.wustl.edu 37 17 7578208 7578208 + Missense_Mutation SNP T T C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 7578208 7578208 T C SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.641 p.H214R 0.999 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 - - 51 0 0.00 7 37 84.09 83 0 0.00 11 64 85.33 PLEKHM1P 0 genome.wustl.edu 37 17 62788544 62788544 + R SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 62788544 62788544 C T SNP PLEKHM1P ENST00000578036 human ensembl 74_37 -1 known rna NULL NULL 0.393 - - - no_errors PLEKHM1P HGNC ENSG00000214176 tier1 - - 45 0 0.00 47 11 18.97 16 0 0.00 28 11 28.21 ALPK1 0 genome.wustl.edu 37 4 113332167 113332167 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 4 113332167 113332167 G A SNP ALPK1 ENST00000505912 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors ALPK1 HGNC ENSG00000073331 tier1 - - 53 0 0.00 28 6 17.65 104 0 0.00 78 32 29.09 POTEE 0 genome.wustl.edu 37 2 131976101 131976101 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 2 131976101 131976101 C T SNP POTEE ENST00000356920 human ensembl 74_37 +1 known silent c.126 p.N42 0.028 NULL pfam_Actin-related,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Actin-related,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Actin-related - no_errors POTEE HGNC ENSG00000188219 tier1 - - 214 0 0.00 62 57 47.90 13 0 0.00 11 4 26.67 CCDC103 0 genome.wustl.edu 37 17 42978925 42978925 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 42978925 42978925 C T SNP CCDC103 ENST00000410006 human ensembl 74_37 +1 known missense c.181 p.R61W 0.742 NULL NULL - no_errors CCDC103 HGNC ENSG00000167131 tier1 - - 64 0 0.00 36 10 21.74 86 0 0.00 98 31 23.48 KEL 0 genome.wustl.edu 37 7 142643361 142643361 + Missense_Mutation SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 7 142643361 142643361 G A SNP KEL ENST00000355265 human ensembl 74_37 -1 known missense c.1247 p.T416M 0.208 pfam_Peptidase_M13_N pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C - no_errors KEL HGNC ENSG00000197993 tier1 - - 51 0 0.00 43 14 24.56 49 0 0.00 67 22 24.72 MAGEB1 0 genome.wustl.edu 37 X 30269231 30269231 + Silent SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf X 30269231 30269231 G A SNP MAGEB1 ENST00000378981 human ensembl 74_37 +1 known silent c.621 p.V207 0.091 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB1 HGNC ENSG00000214107 tier1 - - 18 0 0.00 20 17 45.95 25 0 0.00 34 26 43.33 ENSG00000236432 0 genome.wustl.edu 37 2 228110799 228110799 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 2 228110799 228110799 G A SNP ENSG00000236432 ENST00000396588 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC097662.2 Clone_based_vega_gene ENSG00000236432 tier1 - - 43 0 0.00 38 9 19.15 133 0 0.00 170 76 30.89 PREX2 0 genome.wustl.edu 37 8 69058476 69058476 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 8 69058476 69058476 C T SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.4120 p.R1374W 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 tier1 - - 36 0 0.00 19 10 34.48 64 0 0.00 60 24 28.57 MUC19 0 genome.wustl.edu 37 12 40812989 40812989 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 12 40812989 40812989 C T SNP MUC19 ENST00000425730 human ensembl 74_37 +1 putative silent c.321 p.H107 1.000 NULL pfam_VWF_type-D - no_errors MUC19 HGNC ENSG00000205592 tier1 - - 28 0 0.00 23 5 17.24 106 0 0.00 130 23 15.03 LACTB 0 genome.wustl.edu 37 15 63419128 63419128 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 15 63419128 63419128 C T SNP LACTB ENST00000261893 human ensembl 74_37 +1 known silent c.495 p.I165 1.000 pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like pfam_Beta-lactam-related,superfamily_Beta-lactam/transpept-like - no_errors LACTB HGNC ENSG00000103642 tier1 - - 53 0 0.00 57 7 10.94 74 0 0.00 199 28 12.33 ZNF177 0 genome.wustl.edu 37 19 9491685 9491685 + Silent SNP T T A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 19 9491685 9491685 T A SNP ZNF177 ENST00000434737 human ensembl 74_37 +1 known silent c.678 p.P226 0.410 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF177 HGNC ENSG00000188629 tier1 - - 55 0 0.00 37 29 43.94 54 0 0.00 90 46 33.82 ZNF304 0 genome.wustl.edu 37 19 57868276 57868276 + Missense_Mutation SNP A A T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 19 57868276 57868276 A T SNP ZNF304 ENST00000282286 human ensembl 74_37 +1 known missense c.1039 p.S347C 0.001 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF304 HGNC ENSG00000131845 tier1 - - 42 0 0.00 23 18 43.90 32 0 0.00 35 23 39.66 IQCF1 0 genome.wustl.edu 37 3 51937043 51937043 + Missense_Mutation SNP C C A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 3 51937043 51937043 C A SNP IQCF1 ENST00000310914 human ensembl 74_37 -1 known missense c.66 p.E22D 0.000 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS - no_errors IQCF1 HGNC ENSG00000173389 tier1 - - 161 0 0.00 160 16 9.09 75 0 0.00 126 17 11.89 MICAL3 0 genome.wustl.edu 37 22 18273498 18273498 + Nonstop_Mutation SNP T T C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 22 18273498 18273498 T C SNP MICAL3 ENST00000441493 human ensembl 74_37 -1 known nonstop c.6009 p.*2003W 1.000 NULL pfam_DUF3585,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Znf_LIM,pfam_mOase_FAD-bd,superfamily_CH-domain,smart_CH-domain,smart_Znf_LIM,pfscan_CH-domain,pfscan_Znf_LIM,prints_Rng_hydrolase-like - no_errors MICAL3 HGNC ENSG00000243156 tier1 - - 35 0 0.00 39 7 14.89 65 0 0.00 96 13 11.93 LHX2 0 genome.wustl.edu 37 9 126777694 126777694 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 9 126777694 126777694 C T SNP LHX2 ENST00000373615 human ensembl 74_37 +1 known missense c.617 p.A206V 1.000 NULL pfam_Znf_LIM,pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeobox_dom,pfscan_Znf_LIM,pfscan_Homeobox_dom - no_errors LHX2 HGNC ENSG00000106689 tier1 - - 27 0 0.00 14 7 33.33 27 0 0.00 23 8 25.81 ITGA8 0 genome.wustl.edu 37 10 15719609 15719609 + Missense_Mutation SNP C C A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 10 15719609 15719609 C A SNP ITGA8 ENST00000378076 human ensembl 74_37 -1 known missense c.658 p.G220W 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA8 HGNC ENSG00000077943 tier1 - - 45 0 0.00 30 9 23.08 110 0 0.00 71 35 32.71 ZCCHC13 0 genome.wustl.edu 37 X 73524388 73524388 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf X 73524388 73524388 G C SNP ZCCHC13 ENST00000339534 human ensembl 74_37 +1 known missense c.287 p.R96T 0.026 pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,pfscan_Znf_CCHC - no_errors ZCCHC13 HGNC ENSG00000187969 tier1 - - 27 0 0.00 53 9 14.52 42 0 0.00 187 21 10.10 MMP10 0 genome.wustl.edu 37 11 102647069 102647069 + Missense_Mutation SNP C C A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 102647069 102647069 C A SNP MMP10 ENST00000279441 human ensembl 74_37 -1 known missense c.874 p.A292S 0.000 pirsf_Pept_M10A_Metazoans,superfamily_Hemopexin-like_dom pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP10 HGNC ENSG00000166670 tier1 - - 24 0 0.00 26 4 13.33 71 0 0.00 110 23 17.29 USO1 0 genome.wustl.edu 37 4 76722251 76722251 + Missense_Mutation SNP T T G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 4 76722251 76722251 T G SNP USO1 ENST00000538159 human ensembl 74_37 +1 known missense c.1911 p.I637M 1.000 pfam_Vesicle_Uso1_P115_head,superfamily_ARM-type_fold pfam_Vesicle_Uso1_P115_head,pfam_Uso1_p115_C,superfamily_ARM-type_fold,superfamily_t-SRE - no_errors USO1 HGNC ENSG00000138768 tier1 - - 26 0 0.00 12 5 29.41 82 0 0.00 70 21 23.08 RIPK2 0 genome.wustl.edu 37 8 90796327 90796327 + Missense_Mutation SNP A A C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 8 90796327 90796327 A C SNP RIPK2 ENST00000220751 human ensembl 74_37 +1 known missense c.989 p.E330A 0.153 pirsf_Rcpt-int_Ser/Thr_kinase-2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_CARD,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Rcpt-int_Ser/Thr_kinase-2,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_CARD,pfscan_Prot_kinase_dom - no_errors RIPK2 HGNC ENSG00000104312 tier1 - - 40 0 0.00 33 8 19.51 43 0 0.00 25 12 32.43 CASP12 0 genome.wustl.edu 37 11 104761968 104761968 + Missense_Mutation SNP A A G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 104761968 104761968 A G SNP CASP12 ENST00000375726 human ensembl 74_37 -1 known missense c.596 p.I199T 0.759 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP12 HGNC ENSG00000204403 tier1 - - 80 0 0.00 77 13 14.44 47 0 0.00 80 9 10.11 EPM2A 0 genome.wustl.edu 37 6 145956349 145956349 + R SNP C C G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 6 145956349 145956349 C G SNP EPM2A ENST00000489412 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors EPM2A HGNC ENSG00000112425 tier1 - - 39 0 0.00 11 11 50.00 88 0 0.00 61 29 32.22 MRGPRX3 0 genome.wustl.edu 37 11 18159469 18159469 + Silent SNP C C G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 18159469 18159469 C G SNP MRGPRX3 ENST00000396275 human ensembl 74_37 +1 known silent c.720 p.S240 0.170 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors MRGPRX3 HGNC ENSG00000179826 tier1 - - 57 0 0.00 33 24 42.11 37 0 0.00 32 36 52.94 NFASC 0 genome.wustl.edu 37 1 204987181 204987181 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 1 204987181 204987181 G A SNP NFASC ENST00000495396 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NFASC HGNC ENSG00000163531 tier1 - - 27 0 0.00 15 5 25.00 48 0 0.00 44 12 21.43 LRTM2 0 genome.wustl.edu 37 12 1944811 1944811 + R SNP G G T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 12 1944811 1944811 G T SNP LRTM2 ENST00000543730 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors LRTM2 HGNC ENSG00000166159 tier1 - - 86 0 0.00 40 8 16.67 109 0 0.00 75 27 26.47 CCDC144NL 0 genome.wustl.edu 37 17 20796708 20796708 + Missense_Mutation SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 20796708 20796708 G A SNP CCDC144NL ENST00000327925 human ensembl 74_37 -1 known missense c.412 p.P138S 0.299 NULL NULL - no_errors CCDC144NL HGNC ENSG00000205212 tier1 - - 89 0 0.00 126 39 23.64 69 0 0.00 202 71 26.01 CNTP3 0 genome.wustl.edu 37 9 39171379 39171379 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 9 39171379 39171379 C T SNP CNTP3 ENST00000297668 human ensembl 74_37 -1 known silent c.1320 p.R440 0.001 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTP3 HGNC ENSG00000106714 tier1 - - 178 0 0.00 128 24 15.79 63 0 0.00 68 15 18.07 CR1 0 genome.wustl.edu 37 1 207760910 207760910 + Nonsense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 1 207760910 207760910 C T SNP CR1 ENST00000367049 human ensembl 74_37 +1 known nonsense c.5710 p.R1904* 0.669 pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 tier1 - - 78 0 0.00 39 15 27.78 106 0 0.00 90 29 24.37 GALNT12 0 genome.wustl.edu 37 9 101589137 101589137 + Silent SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 9 101589137 101589137 G C SNP GALNT12 ENST00000375011 human ensembl 74_37 +1 known silent c.645 p.G215 0.934 pfam_Glyco_trans_2 pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin - no_errors GALNT12 HGNC ENSG00000119514 tier1 - - 55 0 0.00 31 17 35.42 17 0 0.00 26 10 27.78 CNTP2 0 genome.wustl.edu 37 7 148113753 148113753 + R SNP T T C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 7 148113753 148113753 T C SNP CNTP2 ENST00000463592 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors CNTP2 HGNC ENSG00000174469 tier1 - - 43 0 0.00 41 9 18.00 78 0 0.00 166 27 13.92 PORCN 0 genome.wustl.edu 37 X 48374461 48374461 + Missense_Mutation SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf X 48374461 48374461 G A SNP PORCN ENST00000326194 human ensembl 74_37 +1 known missense c.1100 p.R367H 1.000 pfam_MBOAT_fam pfam_MBOAT_fam - no_errors PORCN HGNC ENSG00000102312 tier1 - - 51 0 0.00 20 98 80.99 26 0 0.00 34 61 64.21 SRPK2 0 genome.wustl.edu 37 7 104946954 104946954 + Missense_Mutation SNP T T C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 7 104946954 104946954 T C SNP SRPK2 ENST00000465112 human ensembl 74_37 -1 known missense c.136 p.K46E 0.072 NULL NULL - no_errors SRPK2 HGNC ENSG00000135250 tier1 - - 45 0 0.00 21 16 43.24 84 1 1.18 41 57 57.58 EPHA6 0 genome.wustl.edu 37 3 97198209 97198209 + Splice_Site SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 3 97198209 97198209 G A SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known splice_site c.2074+1 e9+1 1.000 - - - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 54 0 0.00 7 8 53.33 83 0 0.00 45 23 33.82 PCDHA3 0 genome.wustl.edu 37 5 140180904 140180904 + Missense_Mutation SNP A A T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 5 140180904 140180904 A T SNP PCDHA3 ENST00000522353 human ensembl 74_37 +1 known missense c.122 p.H41L 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA3 HGNC ENSG00000255408 tier1 - - 105 0 0.00 83 42 33.33 16 0 0.00 21 4 16.00 ABCA6 0 genome.wustl.edu 37 17 67109805 67109805 + Missense_Mutation SNP T T G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 67109805 67109805 T G SNP ABCA6 ENST00000284425 human ensembl 74_37 -1 known missense c.1856 p.Q619P 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA6 HGNC ENSG00000154262 tier1 - - 70 0 0.00 49 24 32.88 91 0 0.00 79 54 40.60 WIF1 0 genome.wustl.edu 37 12 65456299 65456299 + Missense_Mutation SNP A A G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 12 65456299 65456299 A G SNP WIF1 ENST00000286574 human ensembl 74_37 -1 known missense c.788 p.I263T 1.000 smart_EG-like_dom pfam_WIF,pfam_EGF_extracell,smart_WIF,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_WIF,prints_Wnt-inh - no_errors WIF1 HGNC ENSG00000156076 tier1 - - 49 0 0.00 30 20 40.00 110 0 0.00 61 42 40.78 CTNND1 0 genome.wustl.edu 37 11 57575922 57575922 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 57575922 57575922 C T SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2152 p.L718F 1.000 pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 72 0 0.00 61 14 18.67 46 0 0.00 58 11 15.94 PPP1CA 0 genome.wustl.edu 37 11 67168488 67168488 + R SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 67168488 67168488 G C SNP PPP1CA ENST00000529724 human ensembl 74_37 -1 putative rna NULL NULL 0.000 - - - no_errors PPP1CA HGNC ENSG00000172531 tier1 - - 50 0 0.00 9 45 83.33 43 0 0.00 25 40 61.54 SEZ6L 0 genome.wustl.edu 37 22 26707840 26707840 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 22 26707840 26707840 C T SNP SEZ6L ENST00000248933 human ensembl 74_37 +1 known silent c.1788 p.P596 0.327 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L HGNC ENSG00000100095 tier1 rs150994059 - 28 0 0.00 26 9 25.71 46 0 0.00 62 44 41.12 ATP2A3 0 genome.wustl.edu 37 17 3839703 3839703 + Nonsense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 3839703 3839703 C T SNP ATP2A3 ENST00000359983 human ensembl 74_37 -1 known nonsense c.2382 p.W794* 1.000 pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_Ca-transp_IIA 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_Ca-transp_IIA,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP2A3 HGNC ENSG00000074370 tier1 - - 139 0 0.00 227 34 12.98 29 0 0.00 87 11 11.22 LOC101929232 0 genome.wustl.edu 37 15 29037119 29037119 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 15 29037119 29037119 G A SNP LOC101929232 ENST00000562423 human ensembl 74_37 +1 putative rna NULL NULL 0.997 - - - no_errors RP11-578F21.12 Clone_based_vega_gene ENSG00000261377 tier1 - - 47 0 0.00 35 16 31.37 48 0 0.00 56 10 15.15 ARMC8 0 genome.wustl.edu 37 3 137991910 137991910 + Silent SNP G G T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 3 137991910 137991910 G T SNP ARMC8 ENST00000469044 human ensembl 74_37 +1 known silent c.1581 p.V527 1.000 superfamily_ARM-type_fold,smart_Armadillo pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMC8 HGNC ENSG00000114098 tier1 - - 40 0 0.00 33 14 29.79 59 0 0.00 60 9 13.04 ENO2 0 genome.wustl.edu 37 12 7026257 7026257 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 12 7026257 7026257 G C SNP ENO2 ENST00000229277 human ensembl 74_37 +1 known missense c.296 p.G99A 1.000 pfam_Enolase_N,pirsf_Enolase,tigrfam_Enolase pfam_Enolase_C,pfam_Enolase_N,pfam_MeAsp_NH4-lyase_C,pirsf_Enolase,prints_Enolase,tigrfam_Enolase - no_errors ENO2 HGNC ENSG00000111674 tier1 - - 40 0 0.00 11 22 66.67 55 0 0.00 24 60 71.43 PDLIM5 0 genome.wustl.edu 37 4 95508214 95508214 + Missense_Mutation SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 4 95508214 95508214 G A SNP PDLIM5 ENST00000380180 human ensembl 74_37 +1 known missense c.686 p.R229H 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PDLIM5 HGNC ENSG00000163110 tier1 - - 60 0 0.00 15 18 54.55 49 0 0.00 16 24 60.00 HERC4 0 genome.wustl.edu 37 10 69832684 69832684 + Missense_Mutation SNP T T C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 10 69832684 69832684 T C SNP HERC4 ENST00000395198 human ensembl 74_37 -1 known missense c.182 p.N61S 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC4 HGNC ENSG00000148634 tier1 - - 92 0 0.00 20 23 53.49 96 0 0.00 38 60 61.22 FZR1 0 genome.wustl.edu 37 19 3534432 3534432 + Missense_Mutation SNP A A T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 19 3534432 3534432 A T SNP FZR1 ENST00000395095 human ensembl 74_37 +1 known missense c.1361 p.D454V 0.998 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors FZR1 HGNC ENSG00000105325 tier1 - - 90 0 0.00 46 37 44.58 80 0 0.00 71 54 43.20 UBAP1 0 genome.wustl.edu 37 9 34241448 34241449 + Frame_Shift_Del DEL AG AG - TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 AG AG AG - AG AG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 9 34241448 34241449 AG - DEL UBAP1 ENST00000545103 human ensembl 74_37 +1 known frame_shift_del c.617_618 p.K207fs 1.000:1.000 NULL superfamily_UBA-like,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAP1 HGNC ENSG00000165006 tier1 22 0 0.00 20 5 20.00 112 0 0.00 109 30 21.58 DCHS1 0 genome.wustl.edu 37 11 6652903 6652903 + Missense_Mutation SNP T T C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 11 6652903 6652903 T C SNP DCHS1 ENST00000299441 human ensembl 74_37 -1 known missense c.3619 p.N1207D 1.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors DCHS1 HGNC ENSG00000166341 tier1 - - 45 0 0.00 3 7 70.00 21 0 0.00 2 14 87.50 DHX38 0 genome.wustl.edu 37 16 72139995 72139995 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 16 72139995 72139995 C T SNP DHX38 ENST00000268482 human ensembl 74_37 +1 known missense c.2579 p.T860M 1.000 pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_C,pfscan_Helicase_C pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX38 HGNC ENSG00000140829 tier1 - - 81 0 0.00 9 33 78.57 26 0 0.00 4 17 80.95 FANCA 0 genome.wustl.edu 37 16 89837022 89837022 + Silent SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 16 89837022 89837022 C T SNP FANCA ENST00000389301 human ensembl 74_37 -1 known silent c.2172 p.T724 0.287 NULL pfam_Fanconia,prints_Fanconia - no_errors FANCA HGNC ENSG00000187741 tier1 - - 82 0 0.00 6 17 73.91 36 0 0.00 5 19 79.17 PPP6R2 0 genome.wustl.edu 37 22 50870702 50870702 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 22 50870702 50870702 G C SNP PPP6R2 ENST00000216061 human ensembl 74_37 +1 known missense c.1344 p.Q448H 1.000 pfam_SAPS pfam_SAPS,superfamily_ARM-type_fold - no_errors PPP6R2 HGNC ENSG00000100239 tier1 - - 96 0 0.00 29 22 43.14 6 0 0.00 6 3 33.33 SALL1 0 genome.wustl.edu 37 16 51175551 51175551 + Silent SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 16 51175551 51175551 G A SNP SALL1 ENST00000251020 human ensembl 74_37 -1 known silent c.582 p.N194 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors SALL1 HGNC ENSG00000103449 tier1 - - 152 0 0.00 46 27 36.99 14 0 0.00 5 4 44.44 BRWD3 0 genome.wustl.edu 37 X 80064059 80064059 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf X 80064059 80064059 G C SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.159 p.H53Q 0.998 NULL pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 32 0 0.00 87 14 13.86 40 0 0.00 100 7 6.54 C1RL 0 genome.wustl.edu 37 12 7252338 7252338 + Missense_Mutation SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 12 7252338 7252338 G A SNP C1RL ENST00000266542 human ensembl 74_37 -1 known missense c.635 p.T212I 0.000 superfamily_Sushi_SCR_CCP pfam_Peptidase_S1,pfam_CUB_dom,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Peptidase_S1,pfscan_CUB_dom,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors C1RL HGNC ENSG00000139178 tier1 - - 120 0 0.00 45 9 16.67 91 0 0.00 60 4 6.25 SPG11 0 genome.wustl.edu 37 15 44876713 44876713 + Nonsense_Mutation SNP G G T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 15 44876713 44876713 G T SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known nonsense c.5165 p.S1722* 0.871 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 - - 23 0 0.00 43 8 15.69 68 0 0.00 193 18 8.53 GTF2A2 0 genome.wustl.edu 37 15 59931102 59931102 + R SNP A A C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 15 59931102 59931102 A C SNP GTF2A2 ENST00000267869 human ensembl 74_37 -1 known rna NULL NULL 0.919 - - - no_errors GTF2A2 HGNC ENSG00000140307 tier1 - - 19 0 0.00 24 5 17.24 70 0 0.00 330 28 7.82 TEX2 0 genome.wustl.edu 37 17 62290410 62290410 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 62290410 62290410 G C SNP TEX2 ENST00000258991 human ensembl 74_37 -1 known missense c.1168 p.L390V 0.080 NULL pfam_DUF2404 - no_errors TEX2 HGNC ENSG00000136478 tier1 - - 86 0 0.00 101 16 13.68 98 0 0.00 154 16 9.30 SLC2A4 0 genome.wustl.edu 37 17 7189830 7189830 + Missense_Mutation SNP C C T TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 7189830 7189830 C T SNP SLC2A4 ENST00000317370 human ensembl 74_37 +1 known missense c.1412 p.T471I 1.000 pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,prints_Glc_transpt_4,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A4 HGNC ENSG00000181856 tier1 - - 70 0 0.00 121 17 12.32 93 0 0.00 224 24 9.68 NLRP1 0 genome.wustl.edu 37 17 5418160 5418160 + Frame_Shift_Del DEL G G - TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G G - G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 5418160 5418160 G - DEL NLRP1 ENST00000572272 human ensembl 74_37 -1 known frame_shift_del c.4336 p.Q1446fs 0.924 pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R - no_errors NLRP1 HGNC ENSG00000091592 tier1 127 0 0.00 152 27 15.08 80 0 0.00 216 15 6.49 IL32 0 genome.wustl.edu 37 16 3119356 3119356 + Nonstop_Mutation SNP A A G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 16 3119356 3119356 A G SNP IL32 ENST00000396890 human ensembl 74_37 +1 known nonstop c.705 p.*235W 0.001 NULL NULL - no_errors IL32 HGNC ENSG00000008517 tier1 - - 48 0 0.00 30 4 11.76 7 0 0.00 6 1 14.29 ENSG00000264164 0 genome.wustl.edu 37 17 30422196 30422196 + R SNP A A G TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 17 30422196 30422196 A G SNP ENSG00000264164 ENST00000358484 human ensembl 74_37 +1 known rna NULL NULL 0.048 - - - no_errors RP11-640N20.6 Clone_based_vega_gene ENSG00000264164 tier1 - - 51 0 0.00 39 41 51.25 0 0 0.00 0 0 0.00 FAM74A3 0 genome.wustl.edu 37 9 40715674 40715674 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 9 40715674 40715674 G A SNP FAM74A3 ENST00000604146 human ensembl 74_37 +1 known rna NULL NULL 0.608 - - - no_errors FAM74A3 HGNC ENSG00000204844 tier1 rs200737309 - 15 0 0.00 18 15 45.45 0 0 0.00 0 0 0.00 FAM86B1 0 genome.wustl.edu 37 8 12044262 12044262 + Missense_Mutation SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 8 12044262 12044262 G A SNP FAM86B1 ENST00000321602 human ensembl 74_37 -1 known missense c.5 p.P2L 0.966 NULL NULL - no_errors FAM86B1 HGNC ENSG00000186523 tier1 - - 13 0 0.00 17 17 50.00 0 0 0.00 0 0 0.00 LINC00273 0 genome.wustl.edu 37 16 33961806 33961806 + R DEL C C - TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 16 33961806 33961806 C - DEL LINC00273 ENST00000539813 human ensembl 74_37 -1 known rna NULL NULL 0.004 - - - no_errors LINC00273 HGNC ENSG00000256642 tier1 51 0 0.00 32 6 15.79 2 0 0.00 8 0 0.00 NUMBL 0 genome.wustl.edu 37 19 41173893 41173898 + In_Frame_Del DEL TGCTGT TGCTGT - TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 TGCTGT TGCTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 19 41173893 41173898 TGCTGT - DEL NUMBL ENST00000252891 human ensembl 74_37 -1 known in_frame_del c.1310_1305 p.QQ439in_frame_del 1.000:1.000:1.000:1.000:1.000:0.998 pirsf_Numb/numb-like pfam_Numb_domain,pfam_PTB/PI_dom,pfam_PTB,smart_PTB/PI_dom,pirsf_Numb/numb-like,pfscan_PTB/PI_dom - no_errors NUMBL HGNC ENSG00000105245 tier1 0 0 0.00 7 0 0.00 0 0 0.00 7 0 0.00 SLC29A4 0 genome.wustl.edu 37 7 5336737 5336737 + Silent SNP C C A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 7 5336737 5336737 C A SNP SLC29A4 ENST00000297195 human ensembl 74_37 +1 known silent c.790 p.R264 0.822 pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt pfam_Eqnu_transpt,superfamily_MFS_dom_general_subst_transpt,prints_Eqnu_transpt - no_errors SLC29A4 HGNC ENSG00000164638 tier1 - - 97 0 0.00 36 21 36.84 2 0 0.00 0 0 0.00 TIPIN 0 genome.wustl.edu 37 15 66671738 66671738 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 15 66671738 66671738 G A SNP TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 tier1 - - 125 0 0.00 121 14 10.37 0 0 0.00 0 0 0.00 TIPIN 0 genome.wustl.edu 37 15 66671790 66671790 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 15 66671790 66671790 G A SNP TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TIPIN HGNC ENSG00000075131 tier1 - - 127 0 0.00 124 16 11.35 0 0 0.00 0 0 0.00 TIPIN 0 genome.wustl.edu 37 15 66671819 66671819 + R SNP G G A TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 15 66671819 66671819 G A SNP TIPIN ENST00000561773 human ensembl 74_37 -1 known rna NULL NULL 0.961 - - - no_errors TIPIN HGNC ENSG00000075131 tier1 - - 139 0 0.00 128 17 11.72 0 0 0.00 0 0 0.00 C1RL 0 genome.wustl.edu 37 12 7252337 7252337 + Missense_Mutation SNP G G C TCGA-FX-A3TO-01A-11D-A228-09 TCGA-FX-A3TO-10A-01D-A22A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e1c07e88-920e-4b30-8c6d-207e72f77f25 fcdad24d-eab3-4b5d-98a2-470456e019cf 12 7252337 7252337 G C SNP C1RL ENST00000544702 human ensembl 74_37 -1 putative missense c.683 p.P228R 0.000 NULL pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom - no_errors C1RL HGNC ENSG00000139178 tier1 - - 119 0 0.00 45 6 11.76 93 0 0.00 60 2 3.23