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 KHNYN 0 genome.wustl.edu 37 14 24900739 24900739 + Missense_Mutation SNP T T A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 14 24900739 24900739 T A SNP KHNYN ENST00000251343 human ensembl 74_37 +1 known missense c.272 p.I91N 1.000 NULL pfam_RNase_Zc3h12 - no_errors KHNYN HGNC ENSG00000100441 tier1 - - 60 0 0.00 20 11 35.48 135 0 0.00 74 20 21.28 APBA1 0 genome.wustl.edu 37 9 72131055 72131055 + Missense_Mutation SNP C C G TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 9 72131055 72131055 C G SNP APBA1 ENST00000265381 human ensembl 74_37 -1 known missense c.1072 p.E358Q 1.000 NULL pfam_PTB/PI_dom,pfam_PDZ,superfamily_PDZ,smart_PTB/PI_dom,smart_PDZ,pfscan_PDZ,pfscan_PTB/PI_dom - no_errors APBA1 HGNC ENSG00000107282 tier1 - - 68 0 0.00 27 19 41.30 83 0 0.00 20 24 54.55 KRBOX1 0 genome.wustl.edu 37 3 42984102 42984102 + Missense_Mutation SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 3 42984102 42984102 G A SNP KRBOX1 ENST00000426937 human ensembl 74_37 +1 putative missense c.350 p.R117Q 0.000 NULL pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors KRBOX1 HGNC ENSG00000240747 tier1 - - 181 0 0.00 64 6 8.57 90 0 0.00 34 5 12.50 TRAPPC9 0 genome.wustl.edu 37 8 141461086 141461086 + Silent SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 8 141461086 141461086 G A SNP TRAPPC9 ENST00000389328 human ensembl 74_37 -1 known silent c.681 p.R227 0.837 NULL pfam_TRAPP_II_complex_Trs120 - no_errors TRAPPC9 HGNC ENSG00000167632 tier1 - - 54 0 0.00 51 8 13.56 43 0 0.00 41 6 12.77 ZSCAN12 0 genome.wustl.edu 37 6 28358731 28358731 + Missense_Mutation SNP C C G TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 6 28358731 28358731 C G SNP ZSCAN12 ENST00000361028 human ensembl 74_37 -1 known missense c.1336 p.E446Q 0.900 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN12 HGNC ENSG00000158691 tier1 - - 34 0 0.00 20 5 20.00 171 0 0.00 76 22 22.45 DMD 0 genome.wustl.edu 37 X 32328228 32328228 + Missense_Mutation SNP C C A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 X 32328228 32328228 C A SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.6088 p.D2030Y 1.000 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 94 0 0.00 23 11 32.35 143 0 0.00 19 10 34.48 TSPYL6 0 genome.wustl.edu 37 2 54482087 54482087 + Missense_Mutation SNP A A G TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 2 54482087 54482087 A G SNP TSPYL6 ENST00000317802 human ensembl 74_37 -1 known missense c.1202 p.I401T 0.613 NULL pfam_P_family - no_errors TSPYL6 HGNC ENSG00000178021 tier1 - - 90 0 0.00 38 22 36.67 189 0 0.00 70 47 39.83 GUSBP11 0 genome.wustl.edu 37 22 23980848 23980848 + R SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 22 23980848 23980848 G A SNP GUSBP11 ENST00000422506 human ensembl 74_37 -1 known rna NULL NULL 0.212 - - - no_errors GUSBP11 HGNC ENSG00000228315 tier1 - - 80 0 0.00 42 14 25.00 10 0 0.00 10 2 16.67 LRFN5 0 genome.wustl.edu 37 14 42356845 42356845 + Silent SNP C C T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 14 42356845 42356845 C T SNP LRFN5 ENST00000298119 human ensembl 74_37 +1 known silent c.1017 p.N339 0.999 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors LRFN5 HGNC ENSG00000165379 tier1 - - 112 0 0.00 67 6 8.22 198 0 0.00 86 11 11.34 NCOA4 0 genome.wustl.edu 37 10 51585393 51585393 + Missense_Mutation SNP C C T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 10 51585393 51585393 C T SNP NCOA4 ENST00000452682 human ensembl 74_37 +1 known missense c.1540 p.L514F 1.000 NULL pfam_ARA70 - no_errors NCOA4 HGNC ENSG00000138293 tier1 - - 121 0 0.00 45 46 50.55 76 0 0.00 17 27 61.36 SCN8A 0 genome.wustl.edu 37 12 52162854 52162854 + Missense_Mutation SNP A A C TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 12 52162854 52162854 A C SNP SCN8A ENST00000354534 human ensembl 74_37 +1 known missense c.3107 p.E1036A 1.000 pfam_Na_trans_assoc,prints_Na_channel_a8su pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 tier1 - - 43 0 0.00 36 6 14.29 92 0 0.00 43 5 10.42 WNT2 0 genome.wustl.edu 37 7 116960808 116960808 + Silent SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 7 116960808 116960808 G A SNP WNT2 ENST00000265441 human ensembl 74_37 -1 known silent c.123 p.C41 1.000 pfam_Wnt,prints_Wnt2 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2 HGNC ENSG00000105989 tier1 rs140391205 - 22 0 0.00 10 6 37.50 63 0 0.00 21 5 19.23 SYNJ2BP 0 genome.wustl.edu 37 14 70839377 70839377 + R SNP C C G TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 14 70839377 70839377 C G SNP SYNJ2BP ENST00000554216 human ensembl 74_37 -1 putative rna NULL NULL 0.479 - - - no_errors SYNJ2BP HGNC ENSG00000213463 tier1 - - 82 0 0.00 54 12 18.18 106 0 0.00 33 6 15.38 TANGO6 0 genome.wustl.edu 37 16 68894024 68894024 + Missense_Mutation SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 16 68894024 68894024 G A SNP TANGO6 ENST00000261778 human ensembl 74_37 +1 known missense c.332 p.R111H 0.000 NULL pfam_DUF2435,pfam_DUF2411,superfamily_ARM-type_fold - no_errors TANGO6 HGNC ENSG00000103047 tier1 rs199965791 - 56 0 0.00 41 15 26.79 158 0 0.00 106 30 22.06 ZNF707 0 genome.wustl.edu 37 8 144776688 144776688 + Silent SNP C C T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 8 144776688 144776688 C T SNP ZNF707 ENST00000358656 human ensembl 74_37 +1 known silent c.1104 p.H368 0.000 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 ZNF707 HGNC ENSG00000181135 tier1 - - 99 0 0.00 41 36 46.75 53 0 0.00 35 19 35.19 GPR124 0 genome.wustl.edu 37 8 37696483 37696483 + Missense_Mutation SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 8 37696483 37696483 G A SNP GPR124 ENST00000412232 human ensembl 74_37 +1 known missense c.2269 p.A757T 0.016 pfscan_GPS_dom pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,pfscan_GPS_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom - no_errors GPR124 HGNC ENSG00000020181 tier1 rs143113584 - 70 0 0.00 50 11 18.03 39 0 0.00 27 7 20.59 SCN2A 0 genome.wustl.edu 37 2 166245201 166245201 + Missense_Mutation SNP C C T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 2 166245201 166245201 C T SNP SCN2A ENST00000283256 human ensembl 74_37 +1 known missense c.4885 p.R1629C 1.000 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 tier1 - - 220 0 0.00 132 23 14.84 93 1 1.06 34 9 20.93 SLC17A4 0 genome.wustl.edu 37 6 25777120 25777120 + Silent SNP C C T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 6 25777120 25777120 C T SNP SLC17A4 ENST00000377905 human ensembl 74_37 +1 known silent c.1201 p.L401 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A4 HGNC ENSG00000146039 tier1 - - 38 0 0.00 21 7 25.00 59 0 0.00 45 12 21.05 PLA2G4E 0 genome.wustl.edu 37 15 42302375 42302375 + Missense_Mutation SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 15 42302375 42302375 G A SNP PLA2G4E ENST00000413860 human ensembl 74_37 -1 known missense c.71 p.P24L 0.006 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors PLA2G4E HGNC ENSG00000188089 tier1 - - 161 0 0.00 136 18 11.61 65 1 1.52 38 9 19.15 SP140 0 genome.wustl.edu 37 2 231109717 231109717 + Missense_Mutation SNP T T C TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 2 231109717 231109717 T C SNP SP140 ENST00000392045 human ensembl 74_37 +1 known missense c.586 p.S196P 0.001 NULL pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom,pfscan_Bromodomain - no_errors SP140 HGNC ENSG00000079263 tier1 - - 58 0 0.00 26 17 39.53 124 0 0.00 49 8 14.04 TULP2 0 genome.wustl.edu 37 19 49399789 49399789 + Missense_Mutation SNP G G C TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 19 49399789 49399789 G C SNP TULP2 ENST00000221399 human ensembl 74_37 -1 known missense c.109 p.R37G 1.000 prints_Tubby_N pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N - no_errors TULP2 HGNC ENSG00000104804 tier1 - - 111 0 0.00 90 27 23.08 50 0 0.00 36 8 18.18 PMS1 0 genome.wustl.edu 37 2 190660493 190660495 + Splice_Site DEL AGG AGG - TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 AGG AGG AGG - AGG AGG Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 2 190660493 190660495 AGG - DEL PMS1 ENST00000441310 human ensembl 74_37 +1 known splice_site_del c.133-2_133-1 e2-1 0.998:1.000:1.000 - - - no_errors PMS1 HGNC ENSG00000064933 tier1 189 0 0.00 105 14 11.76 99 0 0.00 49 7 12.50 ABTB2 0 genome.wustl.edu 37 11 34194817 34194817 + Missense_Mutation SNP G G A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 11 34194817 34194817 G A SNP ABTB2 ENST00000435224 human ensembl 74_37 -1 known missense c.1282 p.R428C 1.000 NULL pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like - no_errors ABTB2 HGNC ENSG00000166016 tier1 - - 93 0 0.00 57 16 21.92 14 0 0.00 3 2 40.00 LOC401127 0 genome.wustl.edu 37 4 39482041 39482041 + R SNP C C T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 4 39482041 39482041 C T SNP LOC401127 ENST00000513652 human ensembl 74_37 +1 known rna NULL NULL 0.015 - - - no_errors RP11-472B18.1 Clone_based_vega_gene ENSG00000224097 tier1 - - 23 0 0.00 27 5 15.62 9 0 0.00 0 2 100.00 SYNPO2L 0 genome.wustl.edu 37 10 75407274 75407274 + Missense_Mutation SNP C C A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 10 75407274 75407274 C A SNP SYNPO2L ENST00000394810 human ensembl 74_37 -1 known missense c.2136 p.K712N 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SYNPO2L HGNC ENSG00000166317 tier1 - - 15 0 0.00 19 6 24.00 7 0 0.00 2 2 50.00 VPS39 0 genome.wustl.edu 37 15 42479973 42479973 + Missense_Mutation SNP C C T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 15 42479973 42479973 C T SNP VPS39 ENST00000348544 human ensembl 74_37 -1 known missense c.457 p.E153K 1.000 pfam_Citron,superfamily_WD40_repeat_dom,smart_Citron pfam_Citron,pfam_VPS39/TGF_beta_rcpt-assoc_2,pfam_VPS39/TGF_beta_rcpt-assoc_1,pfam_Clathrin_H-chain/VPS_repeat,superfamily_WD40_repeat_dom,smart_Citron - no_errors VPS39 HGNC ENSG00000166887 tier1 - - 54 0 0.00 38 4 9.52 147 0 0.00 78 8 9.30 KMT2C 0 genome.wustl.edu 37 7 151833996 151833996 + Missense_Mutation SNP T T G TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 7 151833996 151833996 T G SNP KMT2C ENST00000355193 human ensembl 74_37 -1 known missense c.14828 p.Y4943S 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,smart_Znf_PHD,smart_Znf_RING,smart_HMG_box_dom,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors KMT2C HGNC ENSG00000055609 tier1 - - 44 0 0.00 34 4 10.53 100 0 0.00 57 3 4.92 ARMCX1 0 genome.wustl.edu 37 X 100808828 100808828 + Missense_Mutation SNP G G T TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 X 100808828 100808828 G T SNP ARMCX1 ENST00000372829 human ensembl 74_37 +1 known missense c.915 p.Q305H 1.000 pfam_ARM-rpt_dom,superfamily_ARM-type_fold pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors ARMCX1 HGNC ENSG00000126947 tier1 - - 53 0 0.00 22 3 12.00 203 0 0.00 61 2 3.17 LAMA1 0 genome.wustl.edu 37 18 7015825 7015825 + Missense_Mutation SNP C C A TCGA-DX-AB3B-01A-11D-A417-09 TCGA-DX-AB3B-10A-01D-A41A-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq e9b24025-5517-4601-92e6-ac6efaa9a84e 3b8655dd-4366-43f9-bac6-f57cc09f3ea4 18 7015825 7015825 C A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.3022 p.D1008Y 1.000 pfam_EGF_laminin,smart_EG-like_dom,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 45 0 0.00 35 4 10.26 83 0 0.00 43 2 4.44