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 AFF2 0 genome.wustl.edu 37 X 147744200 147744200 + Missense_Mutation SNP C C A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b X 147744200 147744200 C A SNP AFF2 ENST00000370460 human ensembl 69_37n +1 known missense c.952 p.L318M 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 136 0 0.00 82 56 40.58 - - - AKAP11 0 genome.wustl.edu 37 13 42875568 42875568 + Missense_Mutation SNP G G A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 13 42875568 42875568 G A SNP AKAP11 ENST00000025301 human ensembl 69_37n +1 known missense c.2686 p.V896I 0.104 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 16 0 0.00 16 11 40.74 - - - ANXA11 0 genome.wustl.edu 37 10 81928877 81928878 + Frame_Shift_Ins INS - - G TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 10 81928877 81928878 - G INS ANXA11 ENST00000265447 human ensembl 69_37n -1 known frame_shift_ins c.409_408 p.G136fs 0.686:0.396 NULL pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXI,prints_AnnexinVII - no_errors ANXA11 HGNC ENSG00000122359 30 0 0.00 43 5 10.42 - - - BOC 0 genome.wustl.edu 37 3 113005658 113005658 + Silent SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 3 113005658 113005658 C T SNP BOC ENST00000273395 human ensembl 69_37n +1 known silent c.3297 p.S1099 0.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors BOC HGNC ENSG00000144857 122 0 0.00 56 33 37.08 - - - C10orf68 0 genome.wustl.edu 37 10 33134181 33134181 + Frame_Shift_Del DEL G G - TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 10 33134181 33134181 G - DEL C10orf68 ENST00000375025 human ensembl 69_37n +1 known frame_shift_del c.1284 p.E429fs 0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 13 0 0.00 4 3 42.86 - - - C10orf68 0 genome.wustl.edu 37 10 33134185 33134186 + Frame_Shift_Ins INS - - T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 10 33134185 33134186 - T INS C10orf68 ENST00000375025 human ensembl 69_37n +1 known frame_shift_ins c.1288_1289 p.H430fs 0.000:0.000 NULL NULL - no_errors C10orf68 HGNC ENSG00000150076 13 0 0.00 4 3 42.86 - - - CLTCL1 0 genome.wustl.edu 37 22 19203720 19203720 + Missense_Mutation SNP G G A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 22 19203720 19203720 G A SNP CLTCL1 ENST00000263200 human ensembl 69_37n -1 known missense c.2966 p.S989L 0.996 pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain - no_errors CLTCL1 HGNC ENSG00000070371 105 0 0.00 56 49 46.67 - - - COL6A5 0 genome.wustl.edu 37 3 130116502 130116502 + Missense_Mutation SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 3 130116502 130116502 C T SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.3644 p.P1215L 0.043 NULL pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 135 0 0.00 127 85 39.91 - - - CTCF 0 genome.wustl.edu 37 16 67654645 67654645 + Missense_Mutation SNP C C G TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 16 67654645 67654645 C G SNP CTCF ENST00000264010 human ensembl 69_37n +1 known missense c.1132 p.P378A 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors CTCF HGNC ENSG00000102974 181 0 0.00 41 103 70.55 - - - CTIF 0 genome.wustl.edu 37 18 46163042 46163043 + Frame_Shift_Ins INS - - C TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 18 46163042 46163043 - C INS CTIF ENST00000382998 human ensembl 69_37n +1 known frame_shift_ins c.238_239 p.Q83fs 0.986:0.778 NULL pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3 - no_errors CTIF HGNC ENSG00000134030 33 0 0.00 35 4 10.26 - - - DIP2C 0 genome.wustl.edu 37 10 323355 323355 + Silent SNP G G A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 10 323355 323355 G A SNP DIP2C ENST00000280886 human ensembl 69_37n -1 known silent c.4581 p.I1527 1.000 NULL pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2C HGNC ENSG00000151240 137 0 0.00 104 42 28.57 - - - DOCK10 0 genome.wustl.edu 37 2 225729785 225729785 + Missense_Mutation SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 2 225729785 225729785 C T SNP DOCK10 ENST00000258390 human ensembl 69_37n -1 known missense c.1277 p.S426N 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 89 0 0.00 28 21 42.86 - - - GPAT2 0 genome.wustl.edu 37 2 96688929 96688929 + Missense_Mutation SNP G G A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 2 96688929 96688929 G A SNP GPAT2 ENST00000359548 human ensembl 69_37n -1 known missense c.2074 p.R692C 1.000 NULL smart_Acyltransferase - no_errors GPAT2 HGNC ENSG00000186281 64 0 0.00 76 9 10.47 - - - GRHL2 0 genome.wustl.edu 37 8 102661656 102661656 + Missense_Mutation SNP A A T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 8 102661656 102661656 A T SNP GRHL2 ENST00000251808 human ensembl 69_37n +1 known missense c.1627 p.R543W 1.000 NULL pfam_CP2 - no_errors GRHL2 HGNC ENSG00000083307 135 0 0.00 114 88 43.56 - - - HLA-DRB5 0 genome.wustl.edu 37 6 32497905 32497905 + Silent SNP G G T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 6 32497905 32497905 G T SNP HLA-DRB5 ENST00000374975 human ensembl 69_37n -1 known silent c.97 p.R33 0.000 superfamily_MHC_I/II-like_Ag-recog pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like - no_errors HLA-DRB5 HGNC ENSG00000198502 121 1 0.82 37 38 50.67 - - - IGSF9B 0 genome.wustl.edu 37 11 133790102 133790102 + Missense_Mutation SNP G G C TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 11 133790102 133790102 G C SNP IGSF9B ENST00000321016 human ensembl 69_37n -1 known missense c.3518 p.P1173R 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 - no_errors IGSF9B HGNC ENSG00000080854 8 0 0.00 10 4 28.57 - - - IPPK 0 genome.wustl.edu 37 9 95381788 95381788 + Silent SNP A A G TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 9 95381788 95381788 A G SNP IPPK ENST00000287996 human ensembl 69_37n -1 known silent c.1230 p.S410 0.979 pfam_Ins_P5_2-kin pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 24 0 0.00 27 20 40.82 - - - KCNV1 0 genome.wustl.edu 37 8 110980575 110980575 + Silent SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 8 110980575 110980575 C T SNP KCNV1 ENST00000297404 human ensembl 69_37n -1 known silent c.1245 p.S415 0.234 pfam_Ion_trans_dom,pfam_Ion_trans_2,prints_K_chnl,prints_K_chnl_volt-dep_Kv9 pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv8,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv4 - no_errors KCNV1 HGNC ENSG00000164794 81 0 0.00 41 20 32.79 - - - KCTD7 0 genome.wustl.edu 37 7 66103260 66103260 + Missense_Mutation SNP G G T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 7 66103260 66103260 G T SNP KCTD7 ENST00000275532 human ensembl 69_37n +1 known missense c.335 p.R112L 1.000 pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like - no_errors KCTD7 HGNC ENSG00000243335 87 0 0.00 75 44 36.97 - - - MACF1 0 genome.wustl.edu 37 1 39853331 39853331 + Missense_Mutation SNP G G C TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 1 39853331 39853331 G C SNP MACF1 ENST00000317713 human ensembl 69_37n +1 known missense c.8631 p.E2877D 0.959 pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors MACF1 HGNC ENSG00000127603 81 0 0.00 58 8 12.12 - - - MADCAM1 0 genome.wustl.edu 37 19 501786 501786 + Missense_Mutation SNP C C A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 19 501786 501786 C A SNP MADCAM1 ENST00000215637 human ensembl 69_37n +1 known missense c.785 p.P262Q 0.000 NULL pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like - no_errors MADCAM1 HGNC ENSG00000099866 13 0 0.00 40 17 29.82 - - - MEPCE 0 genome.wustl.edu 37 7 100028415 100028415 + Silent SNP T T A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 7 100028415 100028415 T A SNP MEPCE ENST00000310512 human ensembl 69_37n +1 known silent c.774 p.T258 1.000 NULL pfam_Bin3 - no_errors MEPCE HGNC ENSG00000146834 23 0 0.00 23 13 35.14 - - - MFSD11 0 genome.wustl.edu 37 17 74772590 74772590 + Missense_Mutation SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 17 74772590 74772590 C T SNP MFSD11 ENST00000585865 human ensembl 69_37n +1 putative missense c.415 p.R139C 0.218 superfamily_MFS_dom_general_subst_transpt superfamily_MFS_dom_general_subst_transpt - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MFSD11 HGNC ENSG00000092931 103 0 0.00 114 69 37.70 - - - NDNF 0 genome.wustl.edu 37 4 121966920 121966920 + Missense_Mutation SNP G G A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 4 121966920 121966920 G A SNP NDNF ENST00000379692 human ensembl 69_37n -1 known missense c.73 p.R25W 0.979 NULL pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3 - no_errors NDNF HGNC ENSG00000173376 42 0 0.00 53 13 19.70 - - - NEK8 0 genome.wustl.edu 37 17 27068449 27068449 + Missense_Mutation SNP G G C TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 17 27068449 27068449 G C SNP NEK8 ENST00000268766 human ensembl 69_37n +1 known missense c.1910 p.W637S 1.000 pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Reg_chr_condens,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK8 HGNC ENSG00000160602 80 0 0.00 21 26 54.17 - - - OR6C2 0 genome.wustl.edu 37 12 55846918 55846918 + Silent SNP A A G TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 12 55846918 55846918 A G SNP OR6C2 ENST00000322678 human ensembl 69_37n +1 known silent c.921 p.A307 0.000 NULL pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6C2 HGNC ENSG00000179695 171 0 0.00 131 83 38.60 - - - PADI4 0 genome.wustl.edu 37 1 17668843 17668843 + Missense_Mutation SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 1 17668843 17668843 C T SNP PADI4 ENST00000375448 human ensembl 69_37n +1 known missense c.881 p.A294V 0.995 pfam_PAD_C,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI4 HGNC ENSG00000159339 57 0 0.00 31 30 49.18 - - - PALM3 0 genome.wustl.edu 37 19 14165287 14165287 + Silent SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 19 14165287 14165287 C T SNP PALM3 ENST00000340790 human ensembl 69_37n -1 known silent c.1152 p.T384 0.000 NULL NULL - no_errors PALM3 HGNC ENSG00000187867 169 0 0.00 251 77 23.40 - - - PLXNA1 0 genome.wustl.edu 37 3 126736736 126736736 + Splice_Site SNP G G A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 3 126736736 126736736 G A SNP PLXNA1 ENST00000393409 human ensembl 69_37n +1 known splice_site c.3660+1 e18+1 1.000 - - - no_errors PLXNA1 HGNC ENSG00000114554 10 0 0.00 7 8 53.33 - - - PTCHD1 0 genome.wustl.edu 37 X 23397729 23397729 + Missense_Mutation SNP A A T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b X 23397729 23397729 A T SNP PTCHD1 ENST00000379361 human ensembl 69_37n +1 known missense c.373 p.I125F 1.000 pfam_Patched pfam_Patched,pfscan_SSD - no_errors PTCHD1 HGNC ENSG00000165186 45 0 0.00 49 18 26.87 - - - SKIDA1 0 genome.wustl.edu 37 10 21804124 21804124 + Frame_Shift_Del DEL A A - TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 10 21804124 21804124 A - DEL SKIDA1 ENST00000449193 human ensembl 69_37n -1 known frame_shift_del c.2628 p.Q877fs 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors SKIDA1 HGNC ENSG00000180592 107 0 0.00 64 41 38.32 - - - SLC9A1 0 genome.wustl.edu 37 1 27436074 27436074 + Silent SNP G G C TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 1 27436074 27436074 G C SNP SLC9A1 ENST00000263980 human ensembl 69_37n -1 known silent c.1008 p.L336 1.000 pfam_Cation/H_exchanger,tigrfam_NaH_exchanger pfam_Cation/H_exchanger,prints_Na/H_exchanger_1,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A1 HGNC ENSG00000090020 47 0 0.00 30 17 36.17 - - - SLC9C2 0 genome.wustl.edu 37 1 173542380 173542380 + Silent SNP G G A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 1 173542380 173542380 G A SNP SLC9C2 ENST00000367714 human ensembl 69_37n -1 known silent c.987 p.H329 0.010 pfam_Cation/H_exchanger pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors SLC9C2 HGNC ENSG00000162753 73 0 0.00 79 25 23.81 - - - SSPO 0 genome.wustl.edu 37 7 149484837 149484838 + RNA INS - - C TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 7 149484837 149484838 - C INS SSPO ENST00000262089 human ensembl 69_37n +1 known rna NULL NULL 1.000:1.000 - - - no_errors SSPO HGNC ENSG00000197558 11 0 0.00 4 2 33.33 - - - TET3 0 genome.wustl.edu 37 2 74329151 74329152 + Frame_Shift_Ins INS - - G TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 2 74329151 74329152 - G INS TET3 ENST00000409262 human ensembl 69_37n +1 known frame_shift_ins c.4831_4832 p.T1614fs 1.000:1.000 NULL NULL - no_errors TET3 HGNC ENSG00000187605 28 0 0.00 28 4 12.50 - - - TRIP11 0 genome.wustl.edu 37 14 92499550 92499550 + Missense_Mutation SNP T T C TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 14 92499550 92499550 T C SNP TRIP11 ENST00000267622 human ensembl 69_37n -1 known missense c.187 p.I63V 0.513 NULL superfamily_Ribosomal_L29,pfscan_GRIP - no_errors TRIP11 HGNC ENSG00000100815 38 0 0.00 26 8 23.53 - - - TST 0 genome.wustl.edu 37 22 37407107 37407108 + Frame_Shift_Ins INS - - G TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 22 37407107 37407108 - G INS TST ENST00000249042 human ensembl 69_37n -1 known frame_shift_ins c.855_854 p.E286fs 0.014:0.995 superfamily_Rhodanese-like_dom,pfscan_Rhodanese-like_dom pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom - no_errors TST HGNC ENSG00000128311 26 0 0.00 25 3 10.71 - - - UPF1 0 genome.wustl.edu 37 19 18965708 18965708 + Missense_Mutation SNP C C T TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 19 18965708 18965708 C T SNP UPF1 ENST00000262803 human ensembl 69_37n +1 known missense c.1286 p.T429M 0.997 NULL pfam_RNA-helicase_UPF1_UPF2-interct,pfam_Helicase/UvrB_dom - no_errors UPF1 HGNC ENSG00000005007 82 0 0.00 31 22 41.51 - - - ZNF578 0 genome.wustl.edu 37 19 53014601 53014601 + Missense_Mutation SNP T T A TCGA-A2-A0CQ-01A-21W-A050-09 TCGA-A2-A0CQ-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx fa0d7183-8757-4f95-87b2-2366a1dbd508 a300b0ed-eb05-4a95-8947-258940ad090b 19 53014601 53014601 T A SNP ZNF578 ENST00000421239 human ensembl 69_37n +1 known missense c.967 p.S323T 0.016 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 ZNF578 HGNC ENSG00000258405 135 0 0.00 126 72 36.36 - - -