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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All AGPHD1 0 genome.wustl.edu 37 15 78825858 78825858 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 15 78825858 78825858 C G SNP AGPHD1 ENST00000388988 human ensembl 69_37n +1 known missense c.968 p.S323C 1.000 NULL pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom - no_errors AGPHD1 HGNC ENSG00000188266 446 0 0.00 283 33 10.38 - - - ASH1L 0 genome.wustl.edu 37 1 155311856 155311856 + Silent SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 155311856 155311856 G A SNP ASH1L ENST00000368346 human ensembl 69_37n -1 known silent c.8346 p.I2782 1.000 pfam_BAH_dom,smart_BAH_dom,pfscan_BAH_dom pfam_SET_dom,pfam_BAH_dom,pfam_Bromodomain,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_AT_hook_DNA-bd_motif,smart_AWS,smart_SET_dom,smart_Bromodomain,smart_Znf_PHD,smart_BAH_dom,pfscan_AWS,pfscan_BAH_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Bromodomain - no_errors ASH1L HGNC ENSG00000116539 292 0 0.00 194 25 11.42 - - - ATP6V1B2 0 genome.wustl.edu 37 8 20067922 20067922 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 8 20067922 20067922 C G SNP ATP6V1B2 ENST00000519667 human ensembl 69_37n +1 putative missense c.325 p.P109A 0.998 NULL pfam_ATPase_F1/V1/A1-cplx_a/bsu_N - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATP6V1B2 HGNC ENSG00000147416 304 0 0.00 191 23 10.75 - - - C9orf41 0 genome.wustl.edu 37 9 77631273 77631273 + Silent SNP T T C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 9 77631273 77631273 T C SNP C9orf41 ENST00000376834 human ensembl 69_37n -1 known silent c.501 p.R167 1.000 pfam_N2227 pfam_N2227 - no_errors C9orf41 HGNC ENSG00000156017 410 0 0.00 220 40 15.38 - - - CCDC34 0 genome.wustl.edu 37 11 27379074 27379074 + Nonsense_Mutation SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 11 27379074 27379074 G C SNP CCDC34 ENST00000328697 human ensembl 69_37n -1 known nonsense c.374 p.S125* 0.001 NULL NULL - no_errors CCDC34 HGNC ENSG00000109881 241 0 0.00 195 28 12.56 - - - CD101 0 genome.wustl.edu 37 1 117568312 117568312 + Missense_Mutation SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 117568312 117568312 G C SNP CD101 ENST00000256652 human ensembl 69_37n +1 known missense c.2610 p.L870F 0.992 pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_errors CD101 HGNC ENSG00000134256 186 0 0.00 143 16 10.06 - - - CD40 0 genome.wustl.edu 37 20 44750513 44750513 + Nonsense_Mutation SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 20 44750513 44750513 C T SNP CD40 ENST00000372285 human ensembl 69_37n +1 known nonsense c.106 p.Q36* 0.005 pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_5,prints_Fas_rcpt - no_errors CD40 HGNC ENSG00000101017 182 0 0.00 117 14 10.61 - - - CERS2 0 genome.wustl.edu 37 1 150939642 150939642 + Missense_Mutation SNP T T C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 150939642 150939642 T C SNP CERS2 ENST00000271688 human ensembl 69_37n -1 known missense c.649 p.I217V 1.000 pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,smart_TLC-dom,pfscan_TLC-dom pirsf_Longevity_assurance_LAG1_LAC1,pfam_TLC-dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_TLC-dom,pfscan_TLC-dom,pfscan_Homeodomain - no_errors CERS2 HGNC ENSG00000143418 115 0 0.00 70 10 12.50 - - - CNTNAP1 0 genome.wustl.edu 37 17 40849571 40849571 + Splice_Site SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 17 40849571 40849571 G C SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known splice_site c.3569-1 e22-1 1.000 - - - no_errors CNTNAP1 HGNC ENSG00000108797 105 0 0.00 61 9 12.86 - - - EDEM3 0 genome.wustl.edu 37 1 184686738 184686738 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 184686738 184686738 C G SNP EDEM3 ENST00000318130 human ensembl 69_37n -1 known missense c.1181 p.R394T 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors EDEM3 HGNC ENSG00000116406 274 0 0.00 191 22 10.33 - - - EPB41L1 0 genome.wustl.edu 37 20 34778680 34778680 + Missense_Mutation SNP T T G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 20 34778680 34778680 T G SNP EPB41L1 ENST00000338074 human ensembl 69_37n +1 known missense c.1261 p.S421A 0.998 pfam_FERM-adjacent,pirsf_Band_41_protein pfam_Band_4.1_C,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_SAB,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pirsf_Band_41_protein,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin - no_errors EPB41L1 HGNC ENSG00000088367 96 0 0.00 70 8 10.26 - - - EPSTI1 0 genome.wustl.edu 37 13 43469228 43469229 + Frame_Shift_Ins INS - - AA TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 13 43469228 43469229 - AA INS EPSTI1 ENST00000313640 human ensembl 69_37n -1 known frame_shift_ins c.865_864 p.L288fs 1.000:0.998 NULL NULL - no_errors EPSTI1 HGNC ENSG00000133106 153 0 0.00 107 12 10.08 - - - FAM221A 0 genome.wustl.edu 37 7 23729011 23729011 + Silent SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 7 23729011 23729011 C G SNP FAM221A ENST00000344962 human ensembl 69_37n +1 known silent c.363 p.P121 1.000 NULL NULL - no_errors FAM221A HGNC ENSG00000188732 105 0 0.00 56 15 21.13 - - - FAM5C 0 genome.wustl.edu 37 1 190195266 190195266 + Missense_Mutation SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 190195266 190195266 G A SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known missense c.907 p.L303F 1.000 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 156 0 0.00 111 18 13.95 - - - FSHR 0 genome.wustl.edu 37 2 49217745 49217745 + Missense_Mutation SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 2 49217745 49217745 G A SNP FSHR ENST00000406846 human ensembl 69_37n -1 known missense c.406 p.P136S 1.000 prints_FSH_rcpt,prints_TSH_rcpt pfam_7TM_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,pfscan_GPCR_Rhodpsn_supfam,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_7TM_GPCR_Rhodpsn,prints_TSH_rcpt - no_errors FSHR HGNC ENSG00000170820 298 1 0.33 234 28 10.69 - - - GRXCR1 0 genome.wustl.edu 37 4 42964964 42964964 + Missense_Mutation SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 4 42964964 42964964 G A SNP GRXCR1 ENST00000399770 human ensembl 69_37n +1 known missense c.440 p.R147H 1.000 pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold pfam_Glutaredoxin,superfamily_Thioredoxin-like_fold,superfamily_HSP_DnaJ_Cys-rich_dom - no_errors GRXCR1 HGNC ENSG00000215203 226 0 0.00 169 28 14.21 - - - HEATR1 0 genome.wustl.edu 37 1 236746159 236746159 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 236746159 236746159 C G SNP HEATR1 ENST00000366582 human ensembl 69_37n -1 known missense c.2439 p.W813C 1.000 superfamily_ARM-type_fold pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 172 0 0.00 101 12 10.62 - - - HMOX2 0 genome.wustl.edu 37 16 4559694 4559694 + Silent SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 16 4559694 4559694 C G SNP HMOX2 ENST00000219700 human ensembl 69_37n +1 known silent c.888 p.L296 0.990 NULL pfam_Haem_Oase-like,superfamily_Haem_Oase-like_multi-hlx,pirsf_Haem_Oase,prints_Haem_Oase - no_errors HMOX2 HGNC ENSG00000103415 81 0 0.00 51 13 20.31 - - - IGLV5-48 0 genome.wustl.edu 37 22 22707309 22707309 + Silent SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 22 22707309 22707309 C T SNP IGLV5-48 ENST00000390293 human ensembl 69_37n +1 known silent c.21 p.L7 0.007 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV5-48 HGNC ENSG00000211647 9 0 0.00 11 5 31.25 - - - INTS5 0 genome.wustl.edu 37 11 62414645 62414645 + Missense_Mutation SNP G G T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 11 62414645 62414645 G T SNP INTS5 ENST00000330574 human ensembl 69_37n -1 known missense c.2907 p.F969L 1.000 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 58 0 0.00 32 4 11.11 - - - INTS5 0 genome.wustl.edu 37 11 62415402 62415402 + Missense_Mutation SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 11 62415402 62415402 G A SNP INTS5 ENST00000330574 human ensembl 69_37n -1 known missense c.2150 p.S717L 0.034 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 136 0 0.00 69 9 11.54 - - - INTS5 0 genome.wustl.edu 37 11 62417233 62417233 + Missense_Mutation SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 11 62417233 62417233 G C SNP INTS5 ENST00000330574 human ensembl 69_37n -1 known missense c.319 p.P107A 0.995 NULL NULL - no_errors INTS5 HGNC ENSG00000185085 158 0 0.00 98 12 10.91 - - - INTU 0 genome.wustl.edu 37 4 128564824 128564824 + Missense_Mutation SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 4 128564824 128564824 G C SNP INTU ENST00000335251 human ensembl 69_37n +1 known missense c.295 p.D99H 0.998 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors INTU HGNC ENSG00000164066 84 0 0.00 57 7 10.94 - - - KCTD19 0 genome.wustl.edu 37 16 67325298 67325298 + Missense_Mutation SNP G G T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 16 67325298 67325298 G T SNP KCTD19 ENST00000304372 human ensembl 69_37n -1 known missense c.2479 p.L827M 1.000 NULL pfam_T1-type_BTB,superfamily_BTB/POZ_fold - no_errors KCTD19 HGNC ENSG00000168676 146 0 0.00 69 11 13.75 - - - LAMA1 0 genome.wustl.edu 37 18 7032992 7032992 + Silent SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 18 7032992 7032992 G C SNP LAMA1 ENST00000389658 human ensembl 69_37n -1 known silent c.2154 p.T718 1.000 pfam_EGF_laminin,smart_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,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,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 95 0 0.00 65 8 10.96 - - - LPIN2 0 genome.wustl.edu 37 18 2960806 2960806 + Silent SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 18 2960806 2960806 C T SNP LPIN2 ENST00000261596 human ensembl 69_37n -1 known silent c.33 p.V11 1.000 pfam_Lipin_N pfam_LNS2,pfam_Lipin_N,superfamily_HAD-like_dom,smart_LNS2 - no_errors LPIN2 HGNC ENSG00000101577 118 0 0.00 70 22 23.91 - - - NDFIP1 0 genome.wustl.edu 37 5 141511786 141511786 + Missense_Mutation SNP A A T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 5 141511786 141511786 A T SNP NDFIP1 ENST00000253814 human ensembl 69_37n +1 known missense c.161 p.D54V 1.000 NULL pfam_NEDD4/BSD2 - no_errors NDFIP1 HGNC ENSG00000131507 208 0 0.00 137 16 10.46 - - - PFKFB3 0 genome.wustl.edu 37 10 6262763 6262763 + Missense_Mutation SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 10 6262763 6262763 G A SNP PFKFB3 ENST00000540253 human ensembl 69_37n +1 known missense c.808 p.E270K 1.000 pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB3 HGNC ENSG00000170525 70 0 0.00 48 9 15.79 - - - PHC1 0 genome.wustl.edu 37 12 9070338 9070338 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 12 9070338 9070338 C G SNP PHC1 ENST00000251757 human ensembl 69_37n +1 known missense c.65 p.S22C 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_Znf_MYM,superfamily_SAM/pointed,smart_SAM,pfscan_SAM,pfscan_Znf_FCS - no_errors PHC1 HGNC ENSG00000111752 52 0 0.00 29 4 12.12 - - - PNISR 0 genome.wustl.edu 37 6 99860583 99860583 + Missense_Mutation SNP A A G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 6 99860583 99860583 A G SNP PNISR ENST00000369239 human ensembl 69_37n -1 known missense c.121 p.W41R 1.000 NULL NULL - no_errors PNISR HGNC ENSG00000132424 264 0 0.00 112 16 12.50 - - - POLR3A 0 genome.wustl.edu 37 10 79784369 79784369 + Missense_Mutation SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 10 79784369 79784369 G C SNP POLR3A ENST00000372371 human ensembl 69_37n -1 known missense c.583 p.Q195E 1.000 pfam_RNA_pol_Rpb1_1 pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,smart_RNA_pol_N - no_errors POLR3A HGNC ENSG00000148606 276 0 0.00 185 26 12.32 - - - PTK2B 0 genome.wustl.edu 37 8 27293815 27293815 + Missense_Mutation SNP C C A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 8 27293815 27293815 C A SNP PTK2B ENST00000346049 human ensembl 69_37n +1 known missense c.1291 p.L431I 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 359 0 0.00 207 35 14.46 - - - SLAMF1 0 genome.wustl.edu 37 1 160582299 160582299 + Silent SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 160582299 160582299 C T SNP SLAMF1 ENST00000302035 human ensembl 69_37n -1 known silent c.936 p.E312 0.997 NULL pfam_Sig_lymph_act_molc_N,pfscan_Ig-like - no_errors SLAMF1 HGNC ENSG00000117090 161 0 0.00 115 16 12.21 - - - SMC1A 0 genome.wustl.edu 37 X 53430747 53430747 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f X 53430747 53430747 C G SNP SMC1A ENST00000322213 human ensembl 69_37n -1 known missense c.2275 p.E759Q 1.000 pfam_RecF/RecN/SMC pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,smart_SMC_hinge,prints_Tropomyosin - no_errors SMC1A HGNC ENSG00000072501 520 1 0.19 266 36 11.92 - - - SNX11 0 genome.wustl.edu 37 17 46189979 46189979 + Missense_Mutation SNP A A G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 17 46189979 46189979 A G SNP SNX11 ENST00000359238 human ensembl 69_37n +1 known missense c.86 p.E29G 1.000 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX11 HGNC ENSG00000002919 182 0 0.00 137 25 15.43 - - - SPRTN 0 genome.wustl.edu 37 1 231474280 231474280 + Nonsense_Mutation SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 231474280 231474280 C T SNP SPRTN ENST00000295050 human ensembl 69_37n +1 known nonsense c.151 p.Q51* 1.000 pfam_SprT-like_domain,smart_SprT-like_domain pfam_SprT-like_domain,smart_SprT-like_domain,smart_Znf_Rad18_put - no_errors SPRTN HGNC ENSG00000010072 143 1 0.69 109 15 12.10 - - - SPTB 0 genome.wustl.edu 37 14 65263386 65263386 + Silent SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 14 65263386 65263386 C T SNP SPTB ENST00000389722 human ensembl 69_37n -1 known silent c.1230 p.L410 1.000 pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_CAMSAP_CH,pfam_Pleckstrin_homology,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTB HGNC ENSG00000070182 107 0 0.00 53 6 10.17 - - - STX17 0 genome.wustl.edu 37 9 102677570 102677570 + Missense_Mutation SNP A A G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 9 102677570 102677570 A G SNP STX17 ENST00000259400 human ensembl 69_37n +1 known missense c.49 p.I17V 1.000 superfamily_t-SNARE pfam_T_SNARE_dom,superfamily_t-SNARE,smart_T_SNARE_dom,pfscan_T_SNARE_dom - no_errors STX17 HGNC ENSG00000136874 248 0 0.00 150 21 12.28 - - - SYT6 0 genome.wustl.edu 37 1 114640500 114640500 + Splice_Site SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 114640500 114640500 C T SNP SYT6 ENST00000369545 human ensembl 69_37n -1 known splice_site c.1365-1 e6-1 1.000 - - - no_errors SYT6 HGNC ENSG00000134207 95 0 0.00 55 10 15.38 - - - TCEB3 0 genome.wustl.edu 37 1 24086048 24086048 + Missense_Mutation SNP A A C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 24086048 24086048 A C SNP TCEB3 ENST00000418390 human ensembl 69_37n +1 known missense c.2382 p.R794S 1.000 NULL pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub,pfscan_F-box_dom_cyclin-like - no_errors TCEB3 HGNC ENSG00000011007 108 0 0.00 79 9 10.23 - - - TCHHL1 0 genome.wustl.edu 37 1 152058642 152058642 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 152058642 152058642 C G SNP TCHHL1 ENST00000368806 human ensembl 69_37n -1 known missense c.1516 p.E506Q 0.000 NULL pfam_S100_Ca-bd_sub - no_errors TCHHL1 HGNC ENSG00000182898 139 0 0.00 97 11 10.19 - - - TLR10 0 genome.wustl.edu 37 4 38775802 38775802 + Silent SNP T T C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 4 38775802 38775802 T C SNP TLR10 ENST00000308973 human ensembl 69_37n -1 known silent c.1410 p.E470 0.861 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR10 HGNC ENSG00000174123 78 0 0.00 42 7 14.29 - - - TMEM87A 0 genome.wustl.edu 37 15 42564268 42564268 + Missense_Mutation SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 15 42564268 42564268 G C SNP TMEM87A ENST00000389834 human ensembl 69_37n -1 known missense c.198 p.F66L 1.000 NULL pfam_TM_rcpt_euk - no_errors TMEM87A HGNC ENSG00000103978 95 0 0.00 69 8 10.39 - - - TNKS1BP1 0 genome.wustl.edu 37 11 57076132 57076132 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 11 57076132 57076132 C G SNP TNKS1BP1 ENST00000358252 human ensembl 69_37n -1 known missense c.4053 p.Q1351H 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 57 0 0.00 39 6 13.33 - - - TP53 0 genome.wustl.edu 37 17 7577120 7577120 + Missense_Mutation SNP C C T TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 17 7577120 7577120 C T SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.818 p.R273H 0.864 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 196 0 0.00 122 16 11.59 - - - TRIM58 0 genome.wustl.edu 37 1 248028177 248028177 + Silent SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 248028177 248028177 G A SNP TRIM58 ENST00000366481 human ensembl 69_37n +1 known silent c.687 p.L229 0.987 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM58 HGNC ENSG00000162722 36 0 0.00 27 8 22.86 - - - TXNDC11 0 genome.wustl.edu 37 16 11782228 11782228 + Missense_Mutation SNP C C A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 16 11782228 11782228 C A SNP TXNDC11 ENST00000356957 human ensembl 69_37n -1 known missense c.2055 p.Q685H 1.000 superfamily_Thioredoxin-like_fold pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC11 HGNC ENSG00000153066 144 0 0.00 93 14 13.08 - - - UBR1 0 genome.wustl.edu 37 15 43244537 43244537 + Missense_Mutation SNP C C G TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 15 43244537 43244537 C G SNP UBR1 ENST00000290650 human ensembl 69_37n -1 known missense c.4945 p.E1649Q 1.000 NULL pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin - no_errors UBR1 HGNC ENSG00000159459 137 0 0.00 83 11 11.58 - - - WNT2B 0 genome.wustl.edu 37 1 113052034 113052034 + Silent SNP G G C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 113052034 113052034 G C SNP WNT2B ENST00000369684 human ensembl 69_37n +1 known silent c.150 p.L50 1.000 NULL pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt2 - no_errors WNT2B HGNC ENSG00000134245 38 0 0.00 23 5 17.86 - - - ZMYM2 0 genome.wustl.edu 37 13 20641001 20641001 + Missense_Mutation SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 13 20641001 20641001 G A SNP ZMYM2 ENST00000382869 human ensembl 69_37n +1 known missense c.3143 p.R1048K 1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 225 0 0.00 205 24 10.48 - - - ZMYM2 0 genome.wustl.edu 37 13 20657091 20657091 + Missense_Mutation SNP T T C TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 13 20657091 20657091 T C SNP ZMYM2 ENST00000382869 human ensembl 69_37n +1 known missense c.3739 p.W1247R 0.998 pfam_DUF3504 pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM2 HGNC ENSG00000121741 235 0 0.00 131 30 18.63 - - - ZNF695 0 genome.wustl.edu 37 1 247150838 247150838 + Nonsense_Mutation SNP C C A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 1 247150838 247150838 C A SNP ZNF695 ENST00000339986 human ensembl 69_37n -1 known nonsense c.979 p.E327* 0.022 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF695 HGNC ENSG00000197472 116 0 0.00 57 10 14.93 - - - ZNF785 0 genome.wustl.edu 37 16 30596468 30596468 + Silent SNP G G A TCGA-E2-A108-01A-13D-A10M-09 TCGA-E2-A108-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e3e394d4-2593-4bf9-86e4-2e79d8cb8dab ddbcaa72-c832-4944-aebe-2324670d568f 16 30596468 30596468 G A SNP ZNF785 ENST00000395216 human ensembl 69_37n -1 known silent c.309 p.F103 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 ZNF785 HGNC ENSG00000197162 82 0 0.00 67 8 10.67 - - -