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 ELP3 0 genome.wustl.edu 37 8 28017900 28017900 + Missense_Mutation SNP T T C TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 8 28017900 28017900 T C SNP ELP3 ENST00000256398 human ensembl 74_37 +1 known missense c.1412 p.I471T 1.000 pfam_GT_dom,superfamily_Acyl_CoA_acyltransferase,pirsf_Hist_AcTrfase_ELP3,pfscan_GT_dom,tigrfam_Hist_AcTrfase_ELP3 pfam_rSAM,pfam_GT_dom,superfamily_Acyl_CoA_acyltransferase,smart_Elp3/MiaB/NifB,pirsf_Hist_AcTrfase_ELP3,pfscan_GT_dom,tigrfam_Hist_AcTrfase_ELP3 - no_errors ELP3 HGNC ENSG00000134014 tier1 - - 46 0 0.00 35 12 25.53 94 0 0.00 73 16 17.98 BRD2 0 genome.wustl.edu 37 6 32948413 32948413 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 6 32948413 32948413 G A SNP BRD2 ENST00000395289 human ensembl 74_37 +1 known missense c.2429 p.S810N 1.000 NULL pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors BRD2 HGNC ENSG00000204256 tier1 - - 62 0 0.00 31 11 26.19 95 0 0.00 35 18 33.96 IGF2-AS 0 genome.wustl.edu 37 11 2167563 2167563 + R SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 11 2167563 2167563 C T SNP IGF2-AS ENST00000381361 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors IGF2-AS HGNC ENSG00000099869 tier1 - - 65 0 0.00 15 21 58.33 100 0 0.00 37 40 51.95 KIF1A 0 genome.wustl.edu 37 2 241662925 241662925 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 2 241662925 241662925 G A SNP KIF1A ENST00000498729 human ensembl 74_37 -1 known missense c.4369 p.R1457W 1.000 NULL pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1A HGNC ENSG00000130294 tier1 - - 73 0 0.00 30 20 40.00 23 0 0.00 15 6 28.57 TGM3 0 genome.wustl.edu 37 20 2308810 2308810 + Missense_Mutation SNP G G T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 20 2308810 2308810 G T SNP TGM3 ENST00000381458 human ensembl 74_37 +1 known missense c.1132 p.G378C 0.998 NULL pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors TGM3 HGNC ENSG00000125780 tier1 - - 148 0 0.00 41 20 32.79 142 0 0.00 57 27 32.14 CEP128 0 genome.wustl.edu 37 14 81302669 81302669 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 14 81302669 81302669 G A SNP CEP128 ENST00000281129 human ensembl 74_37 -1 known missense c.937 p.R313C 0.993 NULL NULL - no_errors CEP128 HGNC ENSG00000100629 tier1 - - 165 0 0.00 101 18 15.13 122 0 0.00 93 15 13.89 DSCAM 0 genome.wustl.edu 37 21 42080624 42080624 + Silent SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 21 42080624 42080624 G A SNP DSCAM ENST00000400454 human ensembl 74_37 -1 known silent c.117 p.T39 1.000 smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub2,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DSCAM HGNC ENSG00000171587 tier1 - - 84 0 0.00 41 8 16.33 47 0 0.00 29 5 14.71 ZNF468 0 genome.wustl.edu 37 19 53344717 53344717 + Missense_Mutation SNP C C A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 19 53344717 53344717 C A SNP ZNF468 ENST00000595646 human ensembl 74_37 -1 known missense c.830 p.G277V 1.000 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 ZNF468 HGNC ENSG00000204604 tier1 - - 139 0 0.00 56 21 27.27 30 0 0.00 23 7 23.33 ABCC6 0 genome.wustl.edu 37 16 16244584 16244584 + Silent SNP C C G TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 16 16244584 16244584 C G SNP ABCC6 ENST00000205557 human ensembl 74_37 -1 known silent c.4254 p.R1418 1.000 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Multidrug-R_assoc 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,tigrfam_Multidrug-R_assoc - no_errors ABCC6 HGNC ENSG00000091262 tier1 - - 50 0 0.00 15 17 53.12 34 0 0.00 23 15 39.47 SAA4 0 genome.wustl.edu 37 11 18257399 18257399 + Silent SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 11 18257399 18257399 G A SNP SAA4 ENST00000278222 human ensembl 74_37 -1 known silent c.75 p.F25 0.001 pfam_Serum_amyloid_A,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A pfam_Serum_amyloid_A,superfamily_Actin_cross-linking,smart_Serum_amyloid_A,pirsf_Serum_amyloid_A,prints_Serum_amyloid_A - no_errors SAA4 HGNC ENSG00000148965 tier1 - - 63 0 0.00 26 20 43.48 107 0 0.00 46 17 26.98 SOX7 0 genome.wustl.edu 37 8 10583914 10583914 + Silent SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 8 10583914 10583914 G A SNP SOX7 ENST00000553390 human ensembl 74_37 -1 known silent c.657 p.P219 0.000 NULL pfam_Sox_C_TAD,pfam_G_patch_dom,pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_G_patch_dom,pfscan_G_patch_dom,pfscan_HMG_box_dom - no_errors SOX7 HGNC ENSG00000171056 tier1 - - 38 0 0.00 17 6 26.09 14 0 0.00 10 9 47.37 GRID2IP 0 genome.wustl.edu 37 7 6579372 6579372 + Nonsense_Mutation SNP G G T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 7 6579372 6579372 G T SNP GRID2IP ENST00000457091 human ensembl 74_37 -1 putative nonsense c.561 p.C187* 0.006 NULL pfam_FH2_Formin,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_FH2_Formin,pfscan_PDZ - no_errors GRID2IP HGNC ENSG00000215045 tier1 - - 64 0 0.00 25 4 13.79 27 0 0.00 28 6 17.65 DJB3 0 genome.wustl.edu 37 2 234651912 234651912 + R SNP A A T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 2 234651912 234651912 A T SNP DJB3 ENST00000449667 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors DJB3 HGNC ENSG00000227802 tier1 - - 151 0 0.00 55 16 22.22 34 0 0.00 25 10 28.57 A2MP1 0 genome.wustl.edu 37 12 9386053 9386053 + R SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 12 9386053 9386053 C T SNP A2MP1 ENST00000543404 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors A2MP1 HGNC ENSG00000256069 tier1 - - 67 0 0.00 25 8 24.24 77 0 0.00 33 10 23.26 C15orf26 0 genome.wustl.edu 37 15 81440868 81440868 + Silent SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 15 81440868 81440868 G A SNP C15orf26 ENST00000286732 human ensembl 74_37 +1 known silent c.900 p.T300 0.000 NULL NULL - no_errors C15orf26 HGNC ENSG00000156206 tier1 - - 99 0 0.00 61 12 16.44 61 0 0.00 58 22 27.50 RG2 0 genome.wustl.edu 37 15 60720639 60720639 + Missense_Mutation SNP T T C TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 15 60720639 60720639 T C SNP RG2 ENST00000261520 human ensembl 74_37 -1 known missense c.2809 p.T937A 0.000 NULL pfam_RG2_C - no_errors RG2 HGNC ENSG00000128915 tier1 - - 171 0 0.00 77 24 23.76 102 0 0.00 64 11 14.67 MARK2 0 genome.wustl.edu 37 11 63676504 63676504 + Missense_Mutation SNP A A G TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 11 63676504 63676504 A G SNP MARK2 ENST00000402010 human ensembl 74_37 +1 known missense c.2162 p.N721S 1.000 superfamily_KA1/Ssp2_C pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_KA1_dom,superfamily_Kinase-like_dom,superfamily_KA1/Ssp2_C,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MARK2 HGNC ENSG00000072518 tier1 - - 62 0 0.00 34 11 24.44 21 0 0.00 10 7 41.18 ROBO2 0 genome.wustl.edu 37 3 77638020 77638020 + Silent SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 3 77638020 77638020 G A SNP ROBO2 ENST00000461745 human ensembl 74_37 +1 known silent c.2619 p.L873 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors ROBO2 HGNC ENSG00000185008 tier1 - - 204 0 0.00 168 25 12.95 149 0 0.00 122 26 17.57 PRPF4B 0 genome.wustl.edu 37 6 4062343 4062343 + R SNP G G T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 6 4062343 4062343 G T SNP PRPF4B ENST00000461612 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PRPF4B HGNC ENSG00000112739 tier1 - - 297 0 0.00 108 52 32.50 121 0 0.00 56 31 35.63 CLEC9A 0 genome.wustl.edu 37 12 10194076 10194076 + R SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 12 10194076 10194076 C T SNP CLEC9A ENST00000544751 human ensembl 74_37 +1 known rna NULL NULL 0.995 - - - no_errors CLEC9A HGNC ENSG00000197992 tier1 - - 78 0 0.00 13 13 50.00 102 0 0.00 37 12 24.49 ASTN1 0 genome.wustl.edu 37 1 176998830 176998830 + Missense_Mutation SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 1 176998830 176998830 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.1060 p.E354K 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 138 0 0.00 60 23 27.71 109 0 0.00 55 22 28.57 CTNND1 0 genome.wustl.edu 37 11 57576833 57576833 + Missense_Mutation SNP C C G TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 11 57576833 57576833 C G SNP CTNND1 ENST00000399050 human ensembl 74_37 +1 known missense c.2330 p.S777C 0.998 superfamily_ARM-type_fold pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors CTNND1 HGNC ENSG00000198561 tier1 - - 113 0 0.00 41 22 34.92 149 0 0.00 76 26 25.49 TNFSF14 0 genome.wustl.edu 37 19 6669985 6669985 + Silent SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 19 6669985 6669985 C T SNP TNFSF14 ENST00000599359 human ensembl 74_37 -1 known silent c.96 p.S32 0.296 NULL pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF - no_errors TNFSF14 HGNC ENSG00000125735 tier1 - - 85 0 0.00 58 16 21.62 65 0 0.00 43 6 12.24 CCDC19 0 genome.wustl.edu 37 1 159860314 159860314 + Silent SNP T T C TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 1 159860314 159860314 T C SNP CCDC19 ENST00000368099 human ensembl 74_37 -1 known silent c.228 p.P76 0.001 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 tier1 - - 140 0 0.00 45 12 21.05 91 0 0.00 48 14 22.58 SYNJ2 0 genome.wustl.edu 37 6 158515005 158515005 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 6 158515005 158515005 G A SNP SYNJ2 ENST00000367121 human ensembl 74_37 +1 known missense c.3830 p.R1277K 1.000 NULL pfam_Syja_N,pfam_DUF1866,pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_IPPc,pfscan_RRM_dom,pfscan_Syja_N - no_errors SYNJ2 HGNC ENSG00000078269 tier1 - - 207 1 0.48 65 30 31.58 111 1 0.89 44 21 32.31 GSTZ1 0 genome.wustl.edu 37 14 77795516 77795516 + Silent SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 14 77795516 77795516 C T SNP GSTZ1 ENST00000216465 human ensembl 74_37 +1 known silent c.393 p.A131 1.000 pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,tigrfam_Mal_ac_isom pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,tigrfam_Mal_ac_isom - no_errors GSTZ1 HGNC ENSG00000100577 tier1 - - 87 0 0.00 52 13 20.00 99 0 0.00 61 7 10.29 KMT2A 0 genome.wustl.edu 37 11 118375819 118375819 + Missense_Mutation SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 11 118375819 118375819 C T SNP KMT2A ENST00000389506 human ensembl 74_37 +1 known missense c.9203 p.P3068L 1.000 pirsf_MeTrfase_trithorax pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain - no_errors KMT2A HGNC ENSG00000118058 tier1 - - 68 0 0.00 22 9 29.03 123 1 0.81 56 20 25.97 CSGALCT1 0 genome.wustl.edu 37 8 19297416 19297416 + Missense_Mutation SNP C C G TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 8 19297416 19297416 C G SNP CSGALCT1 ENST00000311540 human ensembl 74_37 -1 known missense c.878 p.R293T 1.000 pfam_Chond_Galc pfam_Chond_Galc - no_errors CSGALCT1 HGNC ENSG00000147408 tier1 - - 83 0 0.00 50 15 23.08 93 0 0.00 81 21 20.59 OR51Q1 0 genome.wustl.edu 37 11 5444200 5444200 + Missense_Mutation SNP T T A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 11 5444200 5444200 T A SNP OR51Q1 ENST00000300778 human ensembl 74_37 +1 known missense c.770 p.M257K 0.878 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 OR51Q1 HGNC ENSG00000167360 tier1 - - 64 0 0.00 19 14 42.42 84 0 0.00 65 21 24.42 PNPLA7 0 genome.wustl.edu 37 9 140437933 140437933 + Nonsense_Mutation SNP T T A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 9 140437933 140437933 T A SNP PNPLA7 ENST00000406427 human ensembl 74_37 -1 known nonsense c.457 p.K153* 1.000 NULL pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors PNPLA7 HGNC ENSG00000130653 tier1 - - 93 0 0.00 12 11 47.83 67 0 0.00 14 20 58.82 IQCG 0 genome.wustl.edu 37 3 197665423 197665423 + Missense_Mutation SNP C C G TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 3 197665423 197665423 C G SNP IQCG ENST00000265239 human ensembl 74_37 -1 known missense c.511 p.D171H 0.956 NULL pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCG HGNC ENSG00000114473 tier1 - - 112 0 0.00 42 15 26.32 127 0 0.00 51 28 35.44 PARN 0 genome.wustl.edu 37 16 14711476 14711476 + Missense_Mutation SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 16 14711476 14711476 C T SNP PARN ENST00000437198 human ensembl 74_37 -1 known missense c.359 p.G120E 1.000 pfam_RNase_CAF1,superfamily_RNaseH-like_dom pfam_RNase_CAF1,pfam_PolyA-riboNase_R_binding,pfam_R3H_ss-bd,superfamily_RNaseH-like_dom,pfscan_R3H_ss-bd - no_errors PARN HGNC ENSG00000140694 tier1 - - 161 0 0.00 54 47 46.53 109 0 0.00 50 40 44.44 DH9 0 genome.wustl.edu 37 17 11583113 11583113 + Silent SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 17 11583113 11583113 C T SNP DH9 ENST00000262442 human ensembl 74_37 +1 known silent c.3393 p.S1131 0.001 NULL pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH9 HGNC ENSG00000007174 tier1 - - 123 0 0.00 46 16 25.81 112 0 0.00 53 34 39.08 IFI35 0 genome.wustl.edu 37 17 41164274 41164274 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 17 41164274 41164274 G A SNP IFI35 ENST00000438323 human ensembl 74_37 +1 known missense c.100 p.G34R 0.000 pfam_Nmi/IFP35_N pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors IFI35 HGNC ENSG00000068079 tier1 - - 36 0 0.00 19 4 17.39 98 0 0.00 57 25 30.49 CNTRL 0 genome.wustl.edu 37 9 123921164 123921164 + Missense_Mutation SNP T T C TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 9 123921164 123921164 T C SNP CNTRL ENST00000238341 human ensembl 74_37 +1 known missense c.4796 p.L1599S 0.997 NULL pfam_Leu-rich_rpt,superfamily_Prefoldin,superfamily_tR-bd_arm,smart_Leu-rich_rpt_typical-subtyp - no_errors CNTRL HGNC ENSG00000119397 tier1 - - 91 0 0.00 24 15 38.46 100 0 0.00 27 18 40.00 BEND4 0 genome.wustl.edu 37 4 42145445 42145445 + Missense_Mutation SNP C C A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 4 42145445 42145445 C A SNP BEND4 ENST00000502486 human ensembl 74_37 -1 known missense c.1054 p.V352L 1.000 NULL pfam_BEN_domain - no_errors BEND4 HGNC ENSG00000188848 tier1 - - 84 0 0.00 42 32 43.24 125 0 0.00 92 50 35.21 COG8 0 genome.wustl.edu 37 16 69368559 69368559 + Silent SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 16 69368559 69368559 G A SNP COG8 ENST00000306875 human ensembl 74_37 -1 known silent c.1278 p.P426 0.882 pirsf_COG8_Metazoal_Plant pfam_COG8,superfamily_Cullin_repeat-like_dom,pirsf_COG8_Metazoal_Plant - no_errors COG8 HGNC ENSG00000213380 tier1 - - 44 0 0.00 15 59 79.73 56 0 0.00 35 128 78.53 TROAP 0 genome.wustl.edu 37 12 49719940 49719940 + Missense_Mutation SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 12 49719940 49719940 C T SNP TROAP ENST00000257909 human ensembl 74_37 +1 known missense c.715 p.R239W 0.965 NULL NULL - no_errors TROAP HGNC ENSG00000135451 tier1 - - 95 0 0.00 28 14 33.33 115 0 0.00 69 27 28.12 FARSB 0 genome.wustl.edu 37 2 223493573 223493573 + Missense_Mutation SNP T T C TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 2 223493573 223493573 T C SNP FARSB ENST00000281828 human ensembl 74_37 -1 known missense c.883 p.K295E 0.998 tigrfam_Phe-tR-synth_IIc_bsu_arc pfam_B3/B4_tR-bd,pfam_tR_synthase_B5-dom,superfamily_D-bd_dom_put,superfamily_Phe-tR_synthase_B3/B4,smart_B3/B4_tR-bd,smart_tR_synthase_B5-dom,tigrfam_Phe-tR-synth_IIc_bsu_arc - no_errors FARSB HGNC ENSG00000116120 tier1 - - 99 0 0.00 33 17 34.00 108 0 0.00 41 18 30.51 ZMYND8 0 genome.wustl.edu 37 20 45867527 45867527 + Silent SNP T T C TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 20 45867527 45867527 T C SNP ZMYND8 ENST00000536340 human ensembl 74_37 -1 known silent c.2661 p.R887 1.000 NULL pfam_DUF3544,pfam_Bromodomain,pfam_PWWP_dom,pfam_Znf_PHD-finger,pfam_Znf_MYND,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP_dom,pfscan_PWWP_dom,pfscan_Znf_MYND,pfscan_Znf_PHD-finger,pfscan_Bromodomain - no_errors ZMYND8 HGNC ENSG00000101040 tier1 - - 147 0 0.00 35 22 38.60 61 0 0.00 44 12 21.43 ADAMTS6 0 genome.wustl.edu 37 5 64466447 64466447 + Missense_Mutation SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 5 64466447 64466447 C T SNP ADAMTS6 ENST00000381055 human ensembl 74_37 -1 known missense c.3241 p.E1081K 1.000 pfscan_PLAC pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS6 HGNC ENSG00000049192 tier1 - - 77 0 0.00 46 16 25.81 101 0 0.00 60 16 21.05 CPB1 0 genome.wustl.edu 37 3 148577804 148577804 + R SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 3 148577804 148577804 G A SNP CPB1 ENST00000476847 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors CPB1 HGNC ENSG00000153002 tier1 - - 167 1 0.60 30 43 58.90 55 0 0.00 19 20 51.28 ATP5J2 0 genome.wustl.edu 37 7 99063734 99063734 + Missense_Mutation SNP C C G TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 7 99063734 99063734 C G SNP ATP5J2 ENST00000292475 human ensembl 74_37 -1 known missense c.31 p.V11L 0.000 NULL pfam_F1F0-ATPsyn_F_prd - no_errors ATP5J2 HGNC ENSG00000241468 tier1 - - 76 0 0.00 27 18 40.00 68 0 0.00 31 14 31.11 USH2A 0 genome.wustl.edu 37 1 216062283 216062284 + Frame_Shift_Ins INS - - AT TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 - - - AT - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 1 216062283 216062284 - AT INS USH2A ENST00000366943 human ensembl 74_37 -1 known frame_shift_ins c.7708_7707 p.L2569fs 1.000:1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 50 0 0.00 16 7 30.43 109 0 0.00 59 18 23.38 ZDHHC11B 0 genome.wustl.edu 37 5 711036 711037 + R INS - - GA TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 - - - GA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 5 711036 711037 - GA INS ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.006 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 53 0 0.00 18 3 14.29 27 0 0.00 19 5 20.83 MAPK1 0 genome.wustl.edu 37 22 22161991 22161993 + In_Frame_Del DEL GTC GTC - TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 GTC GTC GTC - GTC GTC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 22 22161991 22161993 GTC - DEL MAPK1 ENST00000215832 human ensembl 74_37 -1 known in_frame_del c.264_262 p.D88in_frame_del 0.999:1.000:1.000 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_MAPK_ERK1/2,prints_MAPK_ERK3/4 - no_errors MAPK1 HGNC ENSG00000100030 tier1 136 0 0.00 67 20 22.99 130 0 0.00 86 19 18.10 GGT6 0 genome.wustl.edu 37 17 4462705 4462705 + Silent SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 17 4462705 4462705 G A SNP GGT6 ENST00000574154 human ensembl 74_37 -1 known silent c.372 p.N124 0.681 pfam_GGT_peptidase,prints_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_errors GGT6 HGNC ENSG00000167741 tier1 - - 130 0 0.00 20 24 54.55 35 0 0.00 4 5 55.56 IKZF1 0 genome.wustl.edu 37 7 50467870 50467870 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 7 50467870 50467870 G A SNP IKZF1 ENST00000331340 human ensembl 74_37 +1 known missense c.1105 p.A369T 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF1 HGNC ENSG00000185811 tier1 - - 49 0 0.00 13 18 58.06 7 0 0.00 1 3 75.00 LRRC8A 0 genome.wustl.edu 37 9 131670725 131670725 + Silent SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 9 131670725 131670725 C T SNP LRRC8A ENST00000259324 human ensembl 74_37 +1 known silent c.1282 p.L428 1.000 NULL pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC8A HGNC ENSG00000136802 tier1 - - 55 0 0.00 10 8 44.44 31 0 0.00 9 5 35.71 PLEKHG6 0 genome.wustl.edu 37 12 6437022 6437022 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 12 6437022 6437022 G A SNP PLEKHG6 ENST00000011684 human ensembl 74_37 +1 known missense c.2273 p.R758Q 0.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG6 HGNC ENSG00000008323 tier1 - - 82 0 0.00 12 21 63.64 9 0 0.00 3 2 40.00 RABL6 0 genome.wustl.edu 37 9 139733681 139733681 + Missense_Mutation SNP A A C TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 9 139733681 139733681 A C SNP RABL6 ENST00000371663 human ensembl 74_37 +1 known missense c.1504 p.I502L 0.178 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,prints_Small_GTPase - no_errors RABL6 HGNC ENSG00000196642 tier1 - - 107 0 0.00 46 18 27.69 30 0 0.00 3 5 62.50 SLC35A5 0 genome.wustl.edu 37 3 112300027 112300027 + Missense_Mutation SNP C C T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 3 112300027 112300027 C T SNP SLC35A5 ENST00000492406 human ensembl 74_37 +1 known missense c.1063 p.P355S 1.000 pfam_Nuc_sug_transpt,pfam_UAA,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt pfam_Nuc_sug_transpt,pfam_UAA,pfam_DMT,pfam_Tpt_PEP_trans_dom,pirsf_UDP/CMP-sugar_transptr,tigrfam_UDPgal_transpt - no_errors SLC35A5 HGNC ENSG00000138459 tier1 - - 160 1 0.62 61 16 20.78 116 2 1.69 58 21 26.58 HAS1 0 genome.wustl.edu 37 19 52217143 52217143 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 19 52217143 52217143 G A SNP HAS1 ENST00000601714 human ensembl 74_37 -1 known missense c.1295 p.A432V 0.872 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 tier1 - - 77 0 0.00 30 11 26.83 22 0 0.00 6 1 14.29 MAP1LC3A 0 genome.wustl.edu 37 20 33147737 33147737 + R DEL C C - TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 20 33147737 33147737 C - DEL MAP1LC3A ENST00000476428 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors MAP1LC3A HGNC ENSG00000101460 tier1 38 0 0.00 22 3 12.00 11 0 0.00 9 0 0.00 ZNF765 0 genome.wustl.edu 37 19 53911520 53911520 + Missense_Mutation SNP T T G TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 19 53911520 53911520 T G SNP ZNF765 ENST00000396408 human ensembl 74_37 +1 known missense c.712 p.L238V 0.561 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 ZNF765 HGNC ENSG00000196417 tier1 - - 145 0 0.00 52 38 42.22 23 0 0.00 9 1 10.00 PI4KAP2 0 genome.wustl.edu 37 22 21846328 21846328 + R SNP G G T TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 22 21846328 21846328 G T SNP PI4KAP2 ENST00000450651 human ensembl 74_37 -1 known rna NULL NULL 0.990 - - - no_errors PI4KAP2 HGNC ENSG00000183506 tier1 - - 55 0 0.00 24 4 14.29 0 0 0.00 0 0 0.00 TRPM2 0 genome.wustl.edu 37 21 45844781 45844781 + Missense_Mutation SNP G G A TCGA-MJ-A68H-01A-11D-A307-09 TCGA-MJ-A68H-10A-01D-A307-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq cbfa9116-45c9-422c-a976-4f0e021ec344 2a138f1b-62e6-42c6-b1a6-527769613304 21 45844781 45844781 G A SNP TRPM2 ENST00000300482 human ensembl 74_37 +1 known missense c.3596 p.R1199Q 0.784 NULL pfam_Ion_trans_dom,superfamily_NUDIX_hydrolase_dom-like - no_errors TRPM2 HGNC ENSG00000142185 tier1 - - 65 0 0.00 24 7 22.58 1 0 0.00 1 1 50.00