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 TTLL2 0 genome.wustl.edu 37 6 167754992 167754992 + Missense_Mutation SNP C C A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 6 167754992 167754992 C A SNP TTLL2 ENST00000239587 human ensembl 74_37 +1 known missense c.1604 p.T535N 0.000 NULL pfam_TTL/TTLL_fam - no_errors TTLL2 HGNC ENSG00000120440 tier1 - - 42 0 0.00 37 9 19.57 55 0 0.00 70 14 16.67 ENSG00000251199 0 genome.wustl.edu 37 4 135248568 135248568 + R SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 4 135248568 135248568 C T SNP ENSG00000251199 ENST00000504728 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-400D2.2 Clone_based_vega_gene ENSG00000251199 tier1 - - 38 0 0.00 31 10 24.39 63 0 0.00 65 20 23.53 ZC3H14 0 genome.wustl.edu 37 14 89069266 89069266 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 14 89069266 89069266 G A SNP ZC3H14 ENST00000251038 human ensembl 74_37 +1 known missense c.1609 p.E537K 1.000 NULL smart_Znf_CCCH - no_errors ZC3H14 HGNC ENSG00000100722 tier1 - - 30 0 0.00 50 11 18.03 31 0 0.00 68 25 26.88 FCGR2A 0 genome.wustl.edu 37 1 161476328 161476328 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 1 161476328 161476328 G A SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known missense c.311 p.C104Y 0.966 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 tier1 - - 55 0 0.00 194 77 28.41 41 0 0.00 151 63 29.44 PRB4 0 genome.wustl.edu 37 12 11461420 11461420 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 11461420 11461420 G A SNP PRB4 ENST00000279575 human ensembl 74_37 -1 known missense c.497 p.P166L 0.002 NULL NULL - no_errors PRB4 HGNC ENSG00000230657 tier1 - - 54 0 0.00 76 24 24.00 21 0 0.00 43 7 14.00 PXDNL 0 genome.wustl.edu 37 8 52321402 52321402 + Missense_Mutation SNP G G C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52321402 52321402 G C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2782 p.P928A 0.001 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 40 0 0.00 48 54 52.94 58 0 0.00 63 74 54.01 EEA1 0 genome.wustl.edu 37 12 93246049 93246049 + Missense_Mutation SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 93246049 93246049 C T SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.544 p.E182K 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 tier1 - - 52 0 0.00 307 189 38.10 37 0 0.00 187 134 41.61 PXDNL 0 genome.wustl.edu 37 8 52321291 52321291 + Missense_Mutation SNP G G C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52321291 52321291 G C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2893 p.L965V 0.921 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 42 0 0.00 52 53 50.48 27 0 0.00 31 27 46.55 CISH 0 genome.wustl.edu 37 3 50645149 50645149 + Missense_Mutation SNP G G T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 3 50645149 50645149 G T SNP CISH ENST00000443053 human ensembl 74_37 -1 known missense c.717 p.S239R 1.000 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors CISH HGNC ENSG00000114737 tier1 - - 50 0 0.00 46 10 17.86 52 1 1.89 34 4 10.53 PXDNL 0 genome.wustl.edu 37 8 52321892 52321892 + Silent SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52321892 52321892 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2292 p.P764 0.218 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 8 0 0.00 6 8 57.14 11 0 0.00 10 12 54.55 PXDNL 0 genome.wustl.edu 37 8 52322097 52322097 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52322097 52322097 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2087 p.S696F 0.996 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 77 0 0.00 46 62 57.41 93 1 1.06 67 69 50.74 TRPM2 0 genome.wustl.edu 37 21 45821738 45821738 + Missense_Mutation SNP C C G TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 21 45821738 45821738 C G SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.2496 p.I832M 0.999 pfam_Ion_trans_dom pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 tier1 - - 75 0 0.00 305 158 34.05 36 0 0.00 200 114 36.31 UGGT2 0 genome.wustl.edu 37 13 96511890 96511890 + Silent SNP T T A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 13 96511890 96511890 T A SNP UGGT2 ENST00000376747 human ensembl 74_37 -1 known silent c.3780 p.P1260 0.656 pfam_Glyco_trans_8 pfam_UDP-g_GGtrans,pfam_Glyco_trans_8 - no_errors UGGT2 HGNC ENSG00000102595 tier1 - - 59 0 0.00 121 29 19.33 48 0 0.00 88 10 10.20 MARCH9 0 genome.wustl.edu 37 12 58150839 58150839 + Missense_Mutation SNP T T A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 58150839 58150839 T A SNP MARCH9 ENST00000266643 human ensembl 74_37 +1 known missense c.485 p.L162Q 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 tier1 - - 91 0 0.00 91 156 62.90 84 0 0.00 67 16 19.05 PXDNL 0 genome.wustl.edu 37 8 52321601 52321601 + Silent SNP G G C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52321601 52321601 G C SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known silent c.2583 p.L861 1.000 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 62 0 0.00 41 58 58.59 30 0 0.00 35 27 43.55 FARP1 0 genome.wustl.edu 37 13 99043120 99043120 + Silent SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 13 99043120 99043120 G A SNP FARP1 ENST00000376586 human ensembl 74_37 +1 known silent c.1074 p.K358 0.994 pfam_FERM-adjacent pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM-adjacent,pfam_FERM_central,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors FARP1 HGNC ENSG00000152767 tier1 - - 41 0 0.00 73 13 15.12 47 0 0.00 69 27 28.12 KDM4B 0 genome.wustl.edu 37 19 5082456 5082456 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 19 5082456 5082456 G A SNP KDM4B ENST00000159111 human ensembl 74_37 +1 known missense c.859 p.A287T 1.000 pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom - no_errors KDM4B HGNC ENSG00000127663 tier1 - - 113 1 0.88 100 23 18.70 89 0 0.00 55 22 28.57 FCGR2A 0 genome.wustl.edu 37 1 161476426 161476426 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 1 161476426 161476426 G A SNP FCGR2A ENST00000536731 human ensembl 74_37 +1 known missense c.409 p.G137R 0.000 NULL smart_Ig_sub,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 tier1 - - 38 0 0.00 119 56 31.82 42 0 0.00 130 89 40.64 KRTAP6-1 0 genome.wustl.edu 37 21 31986098 31986098 + Silent SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 21 31986098 31986098 G A SNP KRTAP6-1 ENST00000329122 human ensembl 74_37 -1 known silent c.126 p.F42 0.000 NULL NULL - no_errors KRTAP6-1 HGNC ENSG00000184724 tier1 - - 36 0 0.00 85 29 25.44 7 0 0.00 14 6 30.00 FCGR2A 0 genome.wustl.edu 37 1 161476226 161476226 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 1 161476226 161476226 G A SNP FCGR2A ENST00000271450 human ensembl 74_37 +1 known missense c.209 p.S70N 0.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2A HGNC ENSG00000143226 tier1 - - 62 0 0.00 216 84 27.91 24 0 0.00 89 31 25.83 GGT1 0 genome.wustl.edu 37 22 25019094 25019094 + Missense_Mutation SNP G G C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 22 25019094 25019094 G C SNP GGT1 ENST00000248923 human ensembl 74_37 +1 known missense c.754 p.D252H 1.000 pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase,tigrfam_GGT_peptidase - no_errors GGT1 HGNC ENSG00000100031 tier1 - - 60 0 0.00 115 17 12.88 24 0 0.00 23 3 11.54 ATP1A3 0 genome.wustl.edu 37 19 42482338 42482338 + Missense_Mutation SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 19 42482338 42482338 C T SNP ATP1A3 ENST00000302102 human ensembl 74_37 -1 known missense c.1771 p.D591N 1.000 pfam_HAD-like_dom,superfamily_HAD-like_dom,tigrfam_ATPase_P-typ_Na/K_IIC 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 ATP1A3 HGNC ENSG00000105409 tier1 - - 51 0 0.00 49 68 58.12 42 0 0.00 39 28 41.79 APC4 0 genome.wustl.edu 37 4 25384985 25384985 + Missense_Mutation SNP T T A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 4 25384985 25384985 T A SNP APC4 ENST00000510092 human ensembl 74_37 +1 known missense c.338 p.M113K 1.000 superfamily_WD40_repeat_dom,pirsf_APC4_metazoa superfamily_WD40_repeat_dom,pirsf_APC4_metazoa - no_errors APC4 HGNC ENSG00000053900 tier1 - - 31 0 0.00 35 6 14.63 93 0 0.00 89 29 24.58 KIF19 0 genome.wustl.edu 37 17 72347018 72347018 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 17 72347018 72347018 G A SNP KIF19 ENST00000389916 human ensembl 74_37 +1 known missense c.1561 p.E521K 0.991 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF19 HGNC ENSG00000196169 tier1 rs143225781 GMAF=0 64 0 0.00 48 10 17.24 61 0 0.00 34 4 10.53 PXDNL 0 genome.wustl.edu 37 8 52321309 52321309 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52321309 52321309 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2875 p.H959Y 0.997 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,prints_Haem_peroxidase_animal_subgr,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 53 0 0.00 56 55 49.55 30 0 0.00 36 32 47.06 EEA1 0 genome.wustl.edu 37 12 93244995 93244995 + Silent SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 93244995 93244995 C T SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known silent c.690 p.L230 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 tier1 - - 63 0 0.00 321 234 42.16 66 0 0.00 384 235 37.96 CXADRP3 0 genome.wustl.edu 37 18 14478406 14478406 + R SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 18 14478406 14478406 G A SNP CXADRP3 ENST00000581457 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors CXADRP3 HGNC ENSG00000265766 tier1 - - 41 0 0.00 31 10 24.39 21 0 0.00 10 4 28.57 DPPA3P2 0 genome.wustl.edu 37 14 36840954 36840954 + R SNP A A G TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 14 36840954 36840954 A G SNP DPPA3P2 ENST00000557188 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors DPPA3P2 HGNC ENSG00000188831 tier1 - - 54 0 0.00 133 24 15.29 18 0 0.00 31 5 13.89 MARCH9 0 genome.wustl.edu 37 12 58150836 58150836 + Missense_Mutation SNP T T C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 58150836 58150836 T C SNP MARCH9 ENST00000266643 human ensembl 74_37 +1 known missense c.482 p.V161A 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH9 HGNC ENSG00000139266 tier1 - - 90 0 0.00 88 167 65.23 85 0 0.00 67 16 19.05 PXDNL 0 genome.wustl.edu 37 8 52321456 52321456 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52321456 52321456 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2728 p.L910F 0.845 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 40 0 0.00 42 48 53.33 84 0 0.00 76 85 52.80 PXDNL 0 genome.wustl.edu 37 8 52321339 52321339 + Nonsense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 52321339 52321339 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known nonsense c.2845 p.Q949* 0.880 pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 tier1 - - 53 0 0.00 53 61 53.51 39 0 0.00 41 40 49.38 TTN 0 genome.wustl.edu 37 2 179474099 179474099 + Missense_Mutation SNP G G T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 2 179474099 179474099 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.44234 p.P14745Q 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 20 0 0.00 60 11 15.49 37 0 0.00 65 35 35.00 SEMA5B 0 genome.wustl.edu 37 3 122631054 122631054 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 3 122631054 122631054 G A SNP SEMA5B ENST00000451055 human ensembl 74_37 -1 known missense c.3023 p.T1008M 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5B HGNC ENSG00000082684 tier1 - - 44 0 0.00 25 5 16.67 38 0 0.00 20 3 13.04 EEA1 0 genome.wustl.edu 37 12 93246073 93246073 + Splice_Site SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 93246073 93246073 C T SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known splice_site c.521-1 e8-1 1.000 - - - no_errors EEA1 HGNC ENSG00000102189 tier1 - - 37 0 0.00 262 159 37.68 33 0 0.00 154 115 42.75 SHC3 0 genome.wustl.edu 37 9 91690129 91690129 + Missense_Mutation SNP C C A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 9 91690129 91690129 C A SNP SHC3 ENST00000375835 human ensembl 74_37 -1 known missense c.624 p.M208I 0.989 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_PTB/PI_dom,pfam_SH2,smart_PTB/PI_dom,smart_SH2,pfscan_PTB/PI_dom,pfscan_SH2,prints_PID_Shc-like,prints_SH2 - no_errors SHC3 HGNC ENSG00000148082 tier1 - - 41 0 0.00 70 11 13.58 31 0 0.00 70 12 14.63 ACVR1B 0 genome.wustl.edu 37 12 52385793 52385793 + Missense_Mutation SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 52385793 52385793 C T SNP ACVR1B ENST00000426655 human ensembl 74_37 +1 known missense c.1408 p.P470S 0.002 pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 35 0 0.00 52 18 25.71 70 0 0.00 83 19 18.63 PRR5L 0 genome.wustl.edu 37 11 36472837 36472837 + Missense_Mutation SNP C C A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 11 36472837 36472837 C A SNP PRR5L ENST00000378867 human ensembl 74_37 +1 known missense c.664 p.L222I 0.998 NULL pfam_HbrB - no_errors PRR5L HGNC ENSG00000135362 tier1 - - 52 0 0.00 91 13 12.50 57 0 0.00 78 12 13.33 MAGEB18 0 genome.wustl.edu 37 X 26158106 26158106 + Missense_Mutation SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 X 26158106 26158106 C T SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.1004 p.T335M 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 tier1 - - 19 0 0.00 11 22 66.67 28 0 0.00 36 38 51.35 PREX2 0 genome.wustl.edu 37 8 68992747 68992747 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 8 68992747 68992747 G A SNP PREX2 ENST00000288368 human ensembl 74_37 +1 known missense c.1712 p.G571E 1.000 superfamily_PDZ 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 - - 51 0 0.00 326 47 12.60 74 0 0.00 446 75 14.40 SEMA5A 0 genome.wustl.edu 37 5 9202171 9202171 + Silent SNP C C A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 5 9202171 9202171 C A SNP SEMA5A ENST00000382496 human ensembl 74_37 -1 known silent c.828 p.L276 0.821 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Thrombospondin_1_rpt,superfamily_Semap_dom,superfamily_Thrombospondin_1_rpt,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_Thrombospondin_1_rpt,pfscan_Semap_dom,pfscan_Thrombospondin_1_rpt - no_errors SEMA5A HGNC ENSG00000112902 tier1 - - 17 0 0.00 77 18 18.75 43 0 0.00 223 25 10.04 ZFPM1 0 genome.wustl.edu 37 16 88594452 88594452 + Missense_Mutation SNP G G T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 16 88594452 88594452 G T SNP ZFPM1 ENST00000319555 human ensembl 74_37 +1 known missense c.518 p.W173L 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM1 HGNC ENSG00000179588 tier1 - - 70 0 0.00 41 15 26.79 75 1 1.32 34 10 22.73 ULK1 0 genome.wustl.edu 37 12 132399938 132399938 + Silent SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 132399938 132399938 G A SNP ULK1 ENST00000321867 human ensembl 74_37 +1 known silent c.1581 p.E527 0.312 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ser/Thr_kinase_C,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK1 HGNC ENSG00000177169 tier1 - - 105 0 0.00 828 147 15.06 7 0 0.00 121 24 16.55 EEA1 0 genome.wustl.edu 37 12 93246699 93246699 + Missense_Mutation SNP G G C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 93246699 93246699 G C SNP EEA1 ENST00000322349 human ensembl 74_37 -1 known missense c.509 p.T170S 1.000 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 tier1 - - 49 0 0.00 366 213 36.79 91 0 0.00 663 327 33.00 RAB3GAP1 0 genome.wustl.edu 37 2 135884187 135884188 + Frame_Shift_Ins INS - - T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 2 135884187 135884188 - T INS RAB3GAP1 ENST00000264158 human ensembl 74_37 +1 known frame_shift_ins c.934_935 p.R313fs 1.000:1.000 NULL NULL - no_errors RAB3GAP1 HGNC ENSG00000115839 tier1 69 0 0.00 79 28 26.17 85 0 0.00 94 20 17.54 PTPRVP 0 genome.wustl.edu 37 1 202156135 202156136 + R INS - - CCTCGCT TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 - - - CCTCGCT - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 1 202156135 202156136 - CCTCGCT INS PTPRVP ENST00000482597 human ensembl 74_37 +1 known rna NULL NULL 0.022:0.016 - - - no_errors PTPRVP HGNC ENSG00000243323 tier1 32 0 0.00 16 2 11.11 32 0 0.00 16 2 11.11 LYPD8 0 genome.wustl.edu 37 1 248885201 248885218 + R DEL TGAAAACAATCACAAAGT TGAAAACAATCACAAAGT - TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 TGAAAACAATCACAAAGT TGAAAACAATCACAAAGT TGAAAACAATCACAAAGT - TGAAAACAATCACAAAGT TGAAAACAATCACAAAGT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 1 248885201 248885218 TGAAAACAATCACAAAGT - DEL LYPD8 ENST00000436484 human ensembl 74_37 -1 known rna NULL NULL 0.058:0.046:0.026:0.024:0.016:0.010:0.006:0.002:0.001:0.002:0.002:0.003:0.011:0.024:0.029:0.029:0.025:0.028 - - - no_errors XX-CR54.3 Clone_based_vega_gene ENSG00000232694 tier1 12 0 0.00 21 5 19.23 12 0 0.00 21 5 19.23 AFAP1L2 0 genome.wustl.edu 37 10 116064626 116064626 + Frame_Shift_Del DEL T T - TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 10 116064626 116064626 T - DEL AFAP1L2 ENST00000545353 human ensembl 74_37 -1 known frame_shift_del c.1295 p.H432fs 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors AFAP1L2 HGNC ENSG00000169129 tier1 66 0 0.00 30 7 18.92 58 0 0.00 27 9 25.00 MUC2 0 genome.wustl.edu 37 11 1098695 1098695 + Silent SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 11 1098695 1098695 C T SNP MUC2 ENST00000441003 human ensembl 74_37 +1 known silent c.7065 p.C2355 0.647 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,superfamily_Prot_inh_PMP,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC2 HGNC ENSG00000198788 tier1 - - 92 0 0.00 74 12 13.95 9 0 0.00 6 2 25.00 ACAD10 0 genome.wustl.edu 37 12 112167686 112167686 + Missense_Mutation SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 112167686 112167686 G A SNP ACAD10 ENST00000455480 human ensembl 74_37 +1 known missense c.1413 p.M471I 1.000 pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom pfam_Aminoglycoside_PTrfase,pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_HAD-like_dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_Kinase-like_dom,superfamily_AcylCo_DH/oxidase_C,superfamily_HAD-like_dom,prints_HAD-SF_hydro_IA,tigrfam_HAD-SF_ppase_IA/epoxid_hydro_N,tigrfam_HAD-SF_hydro_IA - no_errors ACAD10 HGNC ENSG00000111271 tier1 - - 35 0 0.00 735 79 9.69 58 0 0.00 1440 115 7.39 OOEP 0 genome.wustl.edu 37 6 74078539 74078539 + Missense_Mutation SNP C C G TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 6 74078539 74078539 C G SNP OOEP ENST00000370359 human ensembl 74_37 -1 known missense c.418 p.D140H 0.000 NULL NULL - no_errors OOEP HGNC ENSG00000203907 tier1 - - 71 0 0.00 94 11 10.48 138 0 0.00 127 7 5.22 NOS1 0 genome.wustl.edu 37 12 117662836 117662836 + Missense_Mutation SNP C C G TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 12 117662836 117662836 C G SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known missense c.3811 p.D1271H 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,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 35 0 0.00 197 19 8.80 53 0 0.00 258 8 3.01 SECISBP2 0 genome.wustl.edu 37 9 91964806 91964806 + Silent SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 9 91964806 91964806 C T SNP SECISBP2 ENST00000375807 human ensembl 74_37 +1 known silent c.1854 p.H618 0.000 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2 HGNC ENSG00000187742 tier1 - - 33 0 0.00 54 17 23.94 54 0 0.00 101 8 7.34 COBL 0 genome.wustl.edu 37 7 51096630 51096630 + Missense_Mutation SNP G G T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 7 51096630 51096630 G T SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2409 p.D803E 0.807 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 - - 25 0 0.00 30 4 11.76 60 0 0.00 91 10 9.90 FTMT 0 genome.wustl.edu 37 5 121188023 121188023 + Missense_Mutation SNP A A T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 5 121188023 121188023 A T SNP FTMT ENST00000321339 human ensembl 74_37 +1 known missense c.365 p.E122V 1.000 pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron pfam_Ferritin_DPS_dom,superfamily_Ferritin-like_SF,pfscan_Ferritin-like_diiron - no_errors FTMT HGNC ENSG00000181867 tier1 - - 74 0 0.00 63 9 12.50 117 0 0.00 89 7 7.29 OR4F6 0 genome.wustl.edu 37 15 102346298 102346298 + Missense_Mutation SNP A A T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 15 102346298 102346298 A T SNP OR4F6 ENST00000328882 human ensembl 74_37 +1 known missense c.376 p.I126L 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4F6 HGNC ENSG00000184140 tier1 - - 50 0 0.00 146 25 14.62 25 1 3.85 38 9 18.75 ZNF25 0 genome.wustl.edu 37 10 38239494 38239495 + R INS - - T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 - - - T - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 10 38239494 38239495 - T INS ZNF25 ENST00000374633 human ensembl 74_37 -1 known rna NULL NULL 0.004:0.003 - - - no_errors ZNF25 HGNC ENSG00000175395 tier1 19 0 0.00 17 6 26.09 32 1 3.03 71 9 11.25 MDGA2 0 genome.wustl.edu 37 14 48143965 48143965 + Missense_Mutation SNP G G T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 14 48143965 48143965 G T SNP MDGA2 ENST00000439988 human ensembl 74_37 -1 known missense c.35 p.A12D 1.000 NULL pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_MAM_dom,pfscan_Ig-like_dom - no_errors MDGA2 Uniprot_gn ENSG00000272781 tier1 - - 50 0 0.00 37 4 9.76 5 0 0.00 2 0 0.00 PITPNM3 0 genome.wustl.edu 37 17 6381307 6381307 + Silent SNP G G A TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 17 6381307 6381307 G A SNP PITPNM3 ENST00000262483 human ensembl 74_37 -1 known silent c.888 p.I296 1.000 NULL pfam_DDHD,pfam_LNS2,superfamily_HAD-like_dom,smart_LNS2,pfscan_DDHD - no_errors PITPNM3 HGNC ENSG00000091622 tier1 - - 79 0 0.00 82 15 15.31 16 0 0.00 8 0 0.00 FEZF1 0 genome.wustl.edu 37 7 121944152 121944152 + Missense_Mutation SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 7 121944152 121944152 C T SNP FEZF1 ENST00000442488 human ensembl 74_37 -1 known missense c.340 p.A114T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 tier1 - - 33 0 0.00 23 6 20.00 3 0 0.00 4 0 0.00 GOLGA8M 0 genome.wustl.edu 37 15 28951305 28951305 + Silent SNP T T C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 15 28951305 28951305 T C SNP GOLGA8M ENST00000340249 human ensembl 74_37 -1 known silent c.588 p.V196 0.572 NULL NULL - no_errors GOLGA8M HGNC ENSG00000188626 tier1 - - 12 0 0.00 13 5 26.32 0 0 0.00 0 0 0.00 GRAMD1A 0 genome.wustl.edu 37 19 35491326 35491327 + R INS - - GCCCT TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 19 35491326 35491327 - GCCCT INS GRAMD1A ENST00000603669 human ensembl 74_37 +1 known rna NULL NULL 0.780:0.776 - - - no_errors GRAMD1A HGNC ENSG00000089351 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 HMGB1P5 0 genome.wustl.edu 37 3 22424338 22424338 + R DEL A A - TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 3 22424338 22424338 A - DEL HMGB1P5 ENST00000451497 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors HMGB1P5 HGNC ENSG00000132967 tier1 12 0 0.00 26 4 13.33 0 0 0.00 3 0 0.00 LOC441666 0 genome.wustl.edu 37 10 42832380 42832380 + R SNP A A G TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 10 42832380 42832380 A G SNP LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 rs140179806 - 55 0 0.00 102 13 11.30 1 0 0.00 0 0 0.00 PGLYRP2 0 genome.wustl.edu 37 19 15580569 15580569 + Silent SNP A A G TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 19 15580569 15580569 A G SNP PGLYRP2 ENST00000292609 human ensembl 74_37 -1 known silent c.1515 p.S505 0.283 pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain - no_errors PGLYRP2 HGNC ENSG00000161031 tier1 - - 11 0 0.00 8 7 43.75 0 0 0.00 0 0 0.00 LOC642361 0 genome.wustl.edu 37 10 81586763 81586764 + R INS - - TCGCCTCGCC TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 10 81586763 81586764 - TCGCCTCGCC INS LOC642361 ENST00000605920 human ensembl 74_37 +1 known rna NULL NULL 0.302:0.319 - - - no_errors RP11-182L21.6 Clone_based_vega_gene ENSG00000272447 tier1 2 0 0.00 3 2 40.00 2 0 0.00 3 2 40.00 CISH 0 genome.wustl.edu 37 3 50645127 50645127 + Missense_Mutation SNP C C T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 3 50645127 50645127 C T SNP CISH ENST00000443053 human ensembl 74_37 -1 known missense c.739 p.V247I 0.151 pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C pfam_SH2,pfam_SOCS_C,smart_SH2,smart_SOCS_C,pfscan_SOCS_C,pfscan_SH2,prints_SH2 - no_errors CISH HGNC ENSG00000114737 tier1 - - 56 0 0.00 51 7 12.07 43 0 0.00 33 3 8.11 PCDHA6 0 genome.wustl.edu 37 5 140209016 140209016 + Missense_Mutation SNP A A C TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 5 140209016 140209016 A C SNP PCDHA6 ENST00000529310 human ensembl 74_37 +1 known missense c.1340 p.D447A 1.000 superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA6 HGNC ENSG00000081842 tier1 - - 204 0 0.00 133 36 21.30 19 0 0.00 23 2 8.00 ENSG00000265194 0 genome.wustl.edu 37 9 21861902 21861903 + R INS - - T TCGA-3B-A9HO-01A-11D-A387-09 TCGA-3B-A9HO-10A-01D-A38A-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 90f9cecc-40c1-4294-b6d8-29c0874a1228 3d9eb4b8-91f4-43d2-aaea-3a72e603ca41 9 21861902 21861903 - T INS ENSG00000265194 ENST00000581788 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-70L8.4 Clone_based_vega_gene ENSG00000265194 tier1 10 0 0.00 31 5 13.89 31 0 0.00 47 2 4.08