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 ENSG00000248115 0 genome.wustl.edu 37 4 53822530 53822530 + R SNP C C A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 4 53822530 53822530 C A SNP ENSG00000248115 ENST00000508813 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP11-752D24.2 Clone_based_vega_gene ENSG00000248115 tier1 - - 33 0 0.00 17 3 15.00 SEPT4 0 genome.wustl.edu 37 17 56603938 56603938 + R SNP C C A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 17 56603938 56603938 C A SNP SEPT4 ENST00000580740 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SEPT4 HGNC ENSG00000108387 tier1 - - 21 0 0.00 17 4 19.05 CHL1 0 genome.wustl.edu 37 3 432653 432653 + Missense_Mutation SNP A A G TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 3 432653 432653 A G SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.2602 p.T868A 0.996 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 65 0 0.00 38 5 11.63 OSTM1 0 genome.wustl.edu 37 6 108395534 108395534 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 6 108395534 108395534 G T SNP OSTM1 ENST00000193322 human ensembl 74_37 -1 known missense c.322 p.P108T 1.000 pfam_Osteopetrosis-assoc_TM_1 pfam_Osteopetrosis-assoc_TM_1 - no_errors OSTM1 HGNC ENSG00000081087 tier1 - - 15 0 0.00 7 4 36.36 SLC18A1 0 genome.wustl.edu 37 8 20004811 20004811 + Silent SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 8 20004811 20004811 G T SNP SLC18A1 ENST00000276373 human ensembl 74_37 -1 known silent c.1422 p.L474 1.000 superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Multidrug-R - no_errors SLC18A1 HGNC ENSG00000036565 tier1 - - 60 0 0.00 44 4 8.33 WNT8A 0 genome.wustl.edu 37 5 137426397 137426397 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 5 137426397 137426397 G T SNP WNT8A ENST00000361560 human ensembl 74_37 +1 known missense c.691 p.A231S 1.000 pfam_Wnt,smart_Wnt,prints_Wnt8 pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt8 - no_errors WNT8A HGNC ENSG00000061492 tier1 - - 53 0 0.00 42 4 8.70 OXCT2 0 genome.wustl.edu 37 1 40235448 40235448 + Missense_Mutation SNP C C T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 1 40235448 40235448 C T SNP OXCT2 ENST00000327582 human ensembl 74_37 -1 known missense c.1480 p.D494N 0.171 pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B pfam_CoA_trans_fam_I,smart_CoA_trans_fam_I,pirsf_3-oxoacid_CoA-transferase,tigrfam_3-oxoacid_CoA-transf_B,tigrfam_3-oxoacid_CoA-transf_A - no_errors OXCT2 HGNC ENSG00000198754 tier1 rs150795467 - 54 0 0.00 74 8 9.76 RAD18 0 genome.wustl.edu 37 3 8944165 8944165 + Frame_Shift_Del DEL T T - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 3 8944165 8944165 T - DEL RAD18 ENST00000264926 human ensembl 74_37 -1 known frame_shift_del c.1067 p.Q356fs 1.000 NULL pfam_SAP_dom,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,smart_Znf_Rad18_put,smart_SAP_dom,pfscan_Znf_RING,pfscan_SAP_dom - no_errors RAD18 HGNC ENSG00000070950 tier1 54 0 0.00 15 2 11.76 ENSG00000221145 0 genome.wustl.edu 37 1 192460261 192460266 + R DEL TGTGTG TGTGTG - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 TGTGTG TGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 1 192460261 192460266 TGTGTG - DEL ENSG00000221145 ENST00000408218 human ensembl 74_37 -1 novel rna NULL NULL 0.001:0.002:0.002:0.001:0.002:0.001 - - - no_errors AL136987.1 Clone_based_ensembl_gene ENSG00000221145 tier1 MYRFL 0 genome.wustl.edu 37 12 70303752 70303752 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 12 70303752 70303752 G T SNP MYRFL ENST00000552032 human ensembl 74_37 +1 putative missense c.1387 p.D463Y 1.000 NULL pfam_NDT80_D-bd_dom,superfamily_p53-like_TF_D-bd - no_errors MYRFL HGNC ENSG00000166268 tier1 - - 52 0 0.00 24 3 11.11 F13A1 0 genome.wustl.edu 37 6 6152150 6152150 + Missense_Mutation SNP C C T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 6 6152150 6152150 C T SNP F13A1 ENST00000264870 human ensembl 74_37 -1 known missense c.1941 p.M647I 1.000 pfam_Transglutaminase_C,superfamily_Transglutaminase_C pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like - no_errors F13A1 HGNC ENSG00000124491 tier1 - - 51 0 0.00 23 3 11.54 LOC101928921 0 genome.wustl.edu 37 11 78807960 78807961 + R INS - - GC TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 11 78807960 78807961 - GC INS LOC101928921 ENST00000526091 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors CTD-2337I7.1 Clone_based_vega_gene ENSG00000255345 tier1 14 0 0.00 19 4 17.39 C12orf68 0 genome.wustl.edu 37 12 48577971 48577971 + Silent SNP G G A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 12 48577971 48577971 G A SNP C12orf68 ENST00000316554 human ensembl 74_37 +1 known silent c.66 p.V22 1.000 NULL NULL - no_errors C12orf68 HGNC ENSG00000177875 tier1 - - 85 0 0.00 56 23 29.11 PLX3 0 genome.wustl.edu 37 X 153696280 153696280 + Silent SNP C C A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 X 153696280 153696280 C A SNP PLX3 ENST00000369682 human ensembl 74_37 +1 known silent c.3756 p.T1252 0.579 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semap_dom,pfam_IPT,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLX3 HGNC ENSG00000130827 tier1 - - 26 0 0.00 34 4 10.53 CCKBR 0 genome.wustl.edu 37 11 6292496 6292496 + Missense_Mutation SNP G G A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 11 6292496 6292496 G A SNP CCKBR ENST00000525462 human ensembl 74_37 +1 known missense c.1274 p.R425H 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Cholcskin_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Gastrin_rcpt,prints_Cholcskin_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt - no_errors CCKBR HGNC ENSG00000110148 tier1 - - 29 0 0.00 27 8 22.86 CAPZA1 0 genome.wustl.edu 37 1 113202208 113202208 + R DEL C C - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 1 113202208 113202208 C - DEL CAPZA1 ENST00000466066 human ensembl 74_37 +1 known rna NULL NULL 0.021 - - - no_errors CAPZA1 HGNC ENSG00000116489 tier1 22 0 0.00 27 3 10.00 NUDT18 0 genome.wustl.edu 37 8 21965275 21965275 + Missense_Mutation SNP G G A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 8 21965275 21965275 G A SNP NUDT18 ENST00000309188 human ensembl 74_37 -1 known missense c.508 p.R170C 0.007 superfamily_NUDIX_hydrolase_dom-like pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase - no_errors NUDT18 HGNC ENSG00000173566 tier1 - - 26 0 0.00 31 11 26.19 NOL9 0 genome.wustl.edu 37 1 6585914 6585914 + Nonstop_Mutation SNP T T C TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 1 6585914 6585914 T C SNP NOL9 ENST00000377705 human ensembl 74_37 -1 known nonstop c.2109 p.*703W 0.126 NULL pfam_Pre-mR_cleavage_cplxII_Clp1,superfamily_P-loop_NTPase - no_errors NOL9 HGNC ENSG00000162408 tier1 - - 74 0 0.00 45 22 32.84 TUBGCP5 0 genome.wustl.edu 37 15 22867604 22867604 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 15 22867604 22867604 G T SNP TUBGCP5 ENST00000283645 human ensembl 74_37 +1 known missense c.2680 p.V894L 1.000 pfam_TUBGCP pfam_TUBGCP - no_errors TUBGCP5 HGNC ENSG00000153575 tier1 - - 35 0 0.00 29 13 30.95 RUNX2 0 genome.wustl.edu 37 6 45390499 45390499 + Silent SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 6 45390499 45390499 G T SNP RUNX2 ENST00000352853 human ensembl 74_37 +1 known silent c.432 p.A144 1.000 NULL pfam_Runt_dom,pfam_RunxI_C_dom,superfamily_p53-like_TF_D-bd,pfscan_Runt_dom,prints_AML1_Runt - no_errors RUNX2 HGNC ENSG00000124813 tier1 - - 36 0 0.00 44 5 10.20 PIAS1 0 genome.wustl.edu 37 15 68446007 68446007 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 15 68446007 68446007 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.908 p.R303M 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 tier1 - - 92 0 0.00 28 3 9.68 HELZ2 0 genome.wustl.edu 37 20 62203405 62203405 + R SNP T T C TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 20 62203405 62203405 T C SNP HELZ2 ENST00000479540 human ensembl 74_37 -1 known rna NULL NULL 0.061 - - - no_errors HELZ2 HGNC ENSG00000130589 tier1 rs73622831 - 45 0 0.00 85 12 12.37 SEC63 0 genome.wustl.edu 37 6 108243115 108243116 + Splice_Site INS - - GGG TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 6 108243115 108243116 - GGG INS SEC63 ENST00000369002 human ensembl 74_37 -1 known splice_site_ins c.340-3_340-2 e4-2 1.000:0.980 - - - no_errors SEC63 HGNC ENSG00000025796 tier1 44 0 0.00 35 4 10.26 CWH43 0 genome.wustl.edu 37 4 49040171 49040171 + Missense_Mutation SNP C C G TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 4 49040171 49040171 C G SNP CWH43 ENST00000226432 human ensembl 74_37 +1 known missense c.1777 p.Q593E 0.674 superfamily_Endo/exonuclease/phosphatase superfamily_Endo/exonuclease/phosphatase - no_errors CWH43 HGNC ENSG00000109182 tier1 - - 71 0 0.00 43 4 8.51 ALPK3 0 genome.wustl.edu 37 15 85383263 85383263 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 15 85383263 85383263 G T SNP ALPK3 ENST00000258888 human ensembl 74_37 +1 known missense c.1359 p.Q453H 0.149 NULL pfam_MHCK_EF2_kinase,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase,pfscan_Ig-like_dom - no_errors ALPK3 HGNC ENSG00000136383 tier1 - - 29 0 0.00 39 5 11.36 DRAM2 0 genome.wustl.edu 37 1 111667503 111667518 + Frame_Shift_Del DEL CCTGGGAAAAGATAAT CCTGGGAAAAGATAAT - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 CCTGGGAAAAGATAAT CCTGGGAAAAGATAAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 1 111667503 111667518 CCTGGGAAAAGATAAT - DEL DRAM2 ENST00000286692 human ensembl 74_37 -1 known frame_shift_del c.200 p.C67fs 0.992 pfam_Frag1/DRAM/Sfk1 pfam_Frag1/DRAM/Sfk1 - no_errors DRAM2 HGNC ENSG00000156171 tier1 SH3GLB1 0 genome.wustl.edu 37 1 87208874 87208874 + Missense_Mutation SNP C C A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 1 87208874 87208874 C A SNP SH3GLB1 ENST00000482504 human ensembl 74_37 +1 known missense c.1117 p.Q373K 1.000 pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 tier1 - - 88 0 0.00 44 4 8.33 DH6 0 genome.wustl.edu 37 2 84915647 84915647 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 2 84915647 84915647 G T SNP DH6 ENST00000237449 human ensembl 74_37 +1 known missense c.7222 p.D2408Y 1.000 superfamily_P-loop_NTPase pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase - no_errors DH6 HGNC ENSG00000115423 tier1 - - 44 0 0.00 25 4 13.79 SECISBP2L 0 genome.wustl.edu 37 15 49301541 49301541 + Silent SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 15 49301541 49301541 G T SNP SECISBP2L ENST00000559471 human ensembl 74_37 -1 known silent c.1899 p.L633 0.958 NULL pfam_Ribosomal_L7Ae/L30e/S12e/Gad45 - no_errors SECISBP2L HGNC ENSG00000138593 tier1 - - 40 0 0.00 23 3 11.54 PPP1R3F 0 genome.wustl.edu 37 X 49142965 49142965 + Missense_Mutation SNP G G A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 X 49142965 49142965 G A SNP PPP1R3F ENST00000055335 human ensembl 74_37 +1 known missense c.1813 p.G605R 0.878 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3F HGNC ENSG00000049769 tier1 rs201784162 GMAF=0 47 0 0.00 47 15 23.81 EFCAB3 0 genome.wustl.edu 37 17 60464715 60464715 + Missense_Mutation SNP C C A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 17 60464715 60464715 C A SNP EFCAB3 ENST00000450662 human ensembl 74_37 +1 known missense c.245 p.P82Q 0.003 NULL pfscan_EF_hand_dom - no_errors EFCAB3 HGNC ENSG00000172421 tier1 - - 53 0 0.00 26 14 34.15 FASN 0 genome.wustl.edu 37 17 80049467 80049467 + Nonsense_Mutation SNP G G A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 17 80049467 80049467 G A SNP FASN ENST00000306749 human ensembl 74_37 -1 known nonsense c.1123 p.Q375* 0.004 superfamily_Thiolase-like,smart_PKS_Beta-ketoAc_synthase_dom pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like - no_errors FASN HGNC ENSG00000169710 tier1 - - 22 0 0.00 19 4 17.39 ITGAE 0 genome.wustl.edu 37 17 3658410 3658410 + Splice_Site DEL C C - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 17 3658410 3658410 C - DEL ITGAE ENST00000263087 human ensembl 74_37 -1 known splice_site_del c.1384+1 e12+1 1.000 - - - no_errors ITGAE HGNC ENSG00000083457 tier1 18 0 0.00 15 6 28.57 DST 0 genome.wustl.edu 37 6 56473578 56473578 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 6 56473578 56473578 G T SNP DST ENST00000370754 human ensembl 74_37 -1 known missense c.5749 p.P1917T 0.990 superfamily_ABC1_TM_dom,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors DST HGNC ENSG00000151914 tier1 - - 37 0 0.00 23 4 14.81 KIAA1958 0 genome.wustl.edu 37 9 115421591 115421591 + Missense_Mutation SNP G G A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 9 115421591 115421591 G A SNP KIAA1958 ENST00000536272 human ensembl 74_37 +1 known missense c.1477 p.V493I 1.000 NULL pfam_DUF3504,superfamily_Integrase_Lambda-type_N - no_errors KIAA1958 HGNC ENSG00000165185 tier1 rs141479985 - 36 0 0.00 30 10 25.00 SPATS1 0 genome.wustl.edu 37 6 44328249 44328249 + Missense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 6 44328249 44328249 G T SNP SPATS1 ENST00000288390 human ensembl 74_37 +1 known missense c.354 p.L118F 0.001 NULL NULL - no_errors SPATS1 HGNC ENSG00000249481 tier1 - - 38 0 0.00 39 4 9.30 IKZF2 0 genome.wustl.edu 37 2 214012404 214012405 + Frame_Shift_Del DEL AA AA - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 AA AA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 2 214012404 214012405 AA - DEL IKZF2 ENST00000442445 human ensembl 74_37 -1 putative frame_shift_del c.185_184 p.L62fs 0.011:0.017 NULL NULL - no_errors IKZF2 HGNC ENSG00000030419 tier1 70 0 0.00 40 5 11.11 TCF12 0 genome.wustl.edu 37 15 57384044 57384044 + Missense_Mutation SNP C C A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 15 57384044 57384044 C A SNP TCF12 ENST00000438423 human ensembl 74_37 +1 known missense c.280 p.H94N 1.000 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors TCF12 HGNC ENSG00000140262 tier1 - - 66 0 0.00 41 4 8.89 ENTPD1-AS1 0 genome.wustl.edu 37 10 97779424 97779424 + R SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 10 97779424 97779424 G T SNP ENTPD1-AS1 ENST00000458228 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors ENTPD1-AS1 HGNC ENSG00000226688 tier1 - - 69 0 0.00 31 4 11.43 DH5 0 genome.wustl.edu 37 5 13770859 13770859 + Silent SNP T T G TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 5 13770859 13770859 T G SNP DH5 ENST00000265104 human ensembl 74_37 -1 known silent c.9604 p.R3202 1.000 superfamily_P-loop_NTPase 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 DH5 HGNC ENSG00000039139 tier1 - - 35 0 0.00 13 7 35.00 H3F3B 0 genome.wustl.edu 37 17 73775137 73775137 + Missense_Mutation SNP T T C TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 17 73775137 73775137 T C SNP H3F3B ENST00000254810 human ensembl 74_37 -1 known missense c.119 p.H40R 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 tier1 - - 77 0 0.00 83 32 27.83 VEPH1 0 genome.wustl.edu 37 3 157081226 157081227 + Frame_Shift_Ins INS - - T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 3 157081226 157081227 - T INS VEPH1 ENST00000362010 human ensembl 74_37 -1 known frame_shift_ins c.1662_1661 p.N554fs 1.000:1.000 NULL pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors VEPH1 HGNC ENSG00000197415 tier1 54 0 0.00 26 4 13.33 PTCHD4 0 genome.wustl.edu 37 6 47847150 47847150 + Frame_Shift_Del DEL A A - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 6 47847150 47847150 A - DEL PTCHD4 ENST00000339488 human ensembl 74_37 -1 known frame_shift_del c.1430 p.F477fs 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD4 HGNC ENSG00000244694 tier1 72 0 0.00 14 2 12.50 SEZ6L2 0 genome.wustl.edu 37 16 29891249 29891249 + Silent SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 16 29891249 29891249 G T SNP SEZ6L2 ENST00000308713 human ensembl 74_37 -1 known silent c.1509 p.P503 0.998 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,pfam_CUB_dom,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors SEZ6L2 HGNC ENSG00000174938 tier1 - - 28 0 0.00 41 5 10.87 C3 0 genome.wustl.edu 37 19 6712613 6712613 + Missense_Mutation SNP T T C TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 19 6712613 6712613 T C SNP C3 ENST00000245907 human ensembl 74_37 -1 known missense c.1025 p.E342G 0.880 NULL pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_comp_syst,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,prints_Anaphylatoxn_comp_syst_dom,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain - no_errors C3 HGNC ENSG00000125730 tier1 - - 38 0 0.00 38 5 11.63 H3F3B 0 genome.wustl.edu 37 17 73775152 73775152 + Missense_Mutation SNP C C A TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 17 73775152 73775152 C A SNP H3F3B ENST00000254810 human ensembl 74_37 -1 known missense c.104 p.G35V 1.000 superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3 - no_errors H3F3B HGNC ENSG00000132475 tier1 - - 89 0 0.00 87 36 29.27 GCG 0 genome.wustl.edu 37 2 163000587 163000587 + Frame_Shift_Del DEL A A - TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 2 163000587 163000587 A - DEL GCG ENST00000375497 human ensembl 74_37 -1 known frame_shift_del c.486 p.A163fs 0.979 pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP pfam_Glucagon_GIP_secretin_VIP,smart_Glucagon_GIP_secretin_VIP,prints_Glucagon_GIP_secretin_VIP - no_errors GCG HGNC ENSG00000115263 tier1 53 0 0.00 12 2 14.29 C10orf68 0 genome.wustl.edu 37 10 32912685 32912685 + Nonsense_Mutation SNP G G T TCGA-QQ-A5V2-01A-11D-A32I-09 TCGA-QQ-A5V2-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 81047441-778a-4acd-b691-d038469dbb2d 4a347717-46ed-4584-868e-1f38b3d08a09 10 32912685 32912685 G T SNP C10orf68 ENST00000375028 human ensembl 74_37 +1 putative nonsense c.25 p.E9* 0.368 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 tier1 - - 43 0 0.00 14 3 17.65