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 APOBEC3A 0 genome.wustl.edu 37 22 39357438 39357438 + Missense_Mutation SNP G G A TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 22 39357438 39357438 G A SNP APOBEC3A ENST00000249116 human ensembl 69_37n +1 known missense c.221 p.R74H 0.001 pfam_APOBEC_N,superfamily_Cytidine_deaminase-like pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like - no_errors APOBEC3A HGNC ENSG00000128383 76 0 0.00 56 22 27.85 - - - BAX 0 genome.wustl.edu 37 19 49458970 49458971 + Frame_Shift_Ins INS - - G TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 19 49458970 49458971 - G INS BAX ENST00000293288 human ensembl 69_37n +1 known frame_shift_ins c.113_114 p.E41fs 0.585:0.588 NULL pfam_Bcl2_BH,smart_Bcl2_BH,pfscan_Bcl2-like_apoptosis,prints_Bcl2_BH - no_errors BAX HGNC ENSG00000087088 36 0 0.00 6 2 25.00 - - - C18orf21 0 genome.wustl.edu 37 18 33552802 33552802 + RNA DEL G G - TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 18 33552802 33552802 G - DEL C18orf21 ENST00000593210 human ensembl 69_37n +1 known rna NULL NULL 0.055 - - - no_errors C18orf21 HGNC ENSG00000141428 57 0 0.00 16 2 11.11 - - - C1orf101 0 genome.wustl.edu 37 1 244735733 244735733 + Missense_Mutation SNP A A T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 1 244735733 244735733 A T SNP C1orf101 ENST00000366534 human ensembl 69_37n +1 known missense c.1609 p.T537S 0.000 NULL NULL - no_errors C1orf101 HGNC ENSG00000179397 134 0 0.00 192 65 25.29 - - - C7orf31 0 genome.wustl.edu 37 7 25176162 25176162 + Missense_Mutation SNP T T C TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 7 25176162 25176162 T C SNP C7orf31 ENST00000283905 human ensembl 69_37n -1 known missense c.1202 p.E401G 0.392 NULL NULL - no_errors C7orf31 HGNC ENSG00000153790 268 1 0.37 343 174 33.59 - - - CENPE 0 genome.wustl.edu 37 4 104062041 104062041 + Missense_Mutation SNP C C A TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 4 104062041 104062041 C A SNP CENPE ENST00000265148 human ensembl 69_37n -1 known missense c.5684 p.R1895I 0.002 NULL pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors CENPE HGNC ENSG00000138778 168 0 0.00 141 68 32.38 - - - DCAF12L2 0 genome.wustl.edu 37 X 125298649 125298649 + Missense_Mutation SNP T T A TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa X 125298649 125298649 T A SNP DCAF12L2 ENST00000360028 human ensembl 69_37n -1 known missense c.1259 p.Y420F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L2 HGNC ENSG00000198354 114 0 0.00 18 9 33.33 - - - DLG1 0 genome.wustl.edu 37 3 196867092 196867092 + Missense_Mutation SNP T T G TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 3 196867092 196867092 T G SNP DLG1 ENST00000346964 human ensembl 69_37n -1 known missense c.731 p.N244T 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ pfam_Guanylate_kin,pfam_PDZ,pfam_MAGUK_PEST_N,pfam_L27_1,pfam_PDZ_assoc,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin - no_errors DLG1 HGNC ENSG00000075711 356 0 0.00 371 208 35.74 - - - DNAH9 0 genome.wustl.edu 37 17 11865565 11865565 + Missense_Mutation SNP G G A TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 17 11865565 11865565 G A SNP DNAH9 ENST00000262442 human ensembl 69_37n +1 known missense c.13225 p.D4409N 1.000 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH9 HGNC ENSG00000007174 173 0 0.00 179 46 20.26 - - - DOCK6 0 genome.wustl.edu 37 19 11325233 11325234 + Frame_Shift_Ins INS - - CCAT TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 19 11325233 11325234 - CCAT INS DOCK6 ENST00000294618 human ensembl 69_37n -1 known frame_shift_ins c.4199_4198 p.V1400fs 1.000:1.000 NULL pfam_DOCK,pfam_DUF3398 - no_errors DOCK6 HGNC ENSG00000130158 19 0 0.00 19 7 26.92 - - - FAM122B 0 genome.wustl.edu 37 X 133923290 133923290 + Missense_Mutation SNP C C T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa X 133923290 133923290 C T SNP FAM122B ENST00000343004 human ensembl 69_37n -1 known missense c.241 p.G81S 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 149 0 0.00 97 27 21.60 - - - GATA3 0 genome.wustl.edu 37 10 8111433 8111434 + Splice_Site DEL CA CA - TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 CA CA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 10 8111433 8111434 CA - DEL GATA3 ENST00000379328 human ensembl 69_37n +1 known splice_site_del c.925-3_925-2 e4-2 1.000:1.000 - - - no_errors GATA3 HGNC ENSG00000107485 51 0 0 49 22 30.14 - - - GFM2 0 genome.wustl.edu 37 5 74026192 74026192 + Missense_Mutation SNP A A G TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 5 74026192 74026192 A G SNP GFM2 ENST00000296805 human ensembl 69_37n -1 known missense c.1619 p.I540T 1.000 superfamily_Elongation_fac_G/III/V pfam_ProtSyn_GTP-bd,pfam_Transl_elong_EFG/EF2_C,pfam_Transl_elong_EFG/EF2_IV,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Elongation_fac_G/III/V,superfamily_Ribosomal_S5_D2-typ_fold,smart_Transl_elong_EFG/EF2_IV,smart_Transl_elong_EFG/EF2_C,prints_ProtSyn_GTP-bd,tigrfam_Small_GTP-bd_dom - no_errors GFM2 HGNC ENSG00000164347 232 0 0.00 228 79 25.65 - - - HDAC5 0 genome.wustl.edu 37 17 42169118 42169118 + Frame_Shift_Del DEL T T - TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 17 42169118 42169118 T - DEL HDAC5 ENST00000225983 human ensembl 69_37n -1 known frame_shift_del c.1117 p.I373fs 1.000 pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC5 HGNC ENSG00000108840 13 0 0.00 5 3 37.50 - - - LARS2 0 genome.wustl.edu 37 3 45583431 45583431 + Missense_Mutation SNP G G T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 3 45583431 45583431 G T SNP LARS2 ENST00000265537 human ensembl 69_37n +1 known missense c.2515 p.V839F 0.921 pfam_V/L/I-tRNA-synth_anticodon-bd,tigrfam_Leu-tRNA-synth_Ia_bac/mito pfam_aa-tRNA-synth_Ia,pfam_Methionyl/Leucyl_tRNA_Synth,pfam_V/L/I-tRNA-synth_anticodon-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Val/Leu/Ile-tRNA-synth_edit,prints_Leu-tRNA-synth_Ia_bac/mito,tigrfam_Leu-tRNA-synth_Ia_bac/mito - no_errors LARS2 HGNC ENSG00000011376 34 0 0.00 45 17 27.42 - - - LPP 0 genome.wustl.edu 37 3 188592262 188592262 + Missense_Mutation SNP C C G TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 3 188592262 188592262 C G SNP LPP ENST00000312675 human ensembl 69_37n +1 known missense c.1834 p.L612V 1.000 NULL pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors LPP HGNC ENSG00000145012 124 0 0.00 105 51 32.28 - - - MALAT1 0 genome.wustl.edu 37 11 65271742 65271742 + RNA SNP A A G TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 11 65271742 65271742 A G SNP MALAT1 ENST00000534336 human ensembl 69_37n +1 known rna NULL NULL 0.955 - - - no_errors MALAT1 HGNC ENSG00000251562 40 0 0.00 29 4 12.12 - - - MED12 0 genome.wustl.edu 37 X 70340968 70340968 + Missense_Mutation SNP A A T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa X 70340968 70340968 A T SNP MED12 ENST00000333646 human ensembl 69_37n +1 known missense c.701 p.D234V 1.000 NULL pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12_catenin-bd,pfam_Mediator_Med12 - no_errors MED12 HGNC ENSG00000184634 219 0 0.00 95 81 45.76 - - - MMP16 0 genome.wustl.edu 37 8 89339325 89339326 + Frame_Shift_Ins INS - - T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 8 89339325 89339326 - T INS MMP16 ENST00000286614 human ensembl 69_37n -1 known frame_shift_ins c.111_110 p.E38fs 0.993:1.000 pirsf_Pept_M10A_matrix_strom pirsf_Pept_M10A_matrix_strom,pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,prints_Pept_M10A_matrixin - no_errors MMP16 HGNC ENSG00000156103 70 0 0.00 13 6 31.58 - - - MUC16 0 genome.wustl.edu 37 19 9063372 9063372 + Missense_Mutation SNP T T C TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 19 9063372 9063372 T C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.24074 p.N8025S 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 191 0 0.00 316 171 34.97 - - - NCL 0 genome.wustl.edu 37 2 232326283 232326283 + Missense_Mutation SNP T T C TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 2 232326283 232326283 T C SNP NCL ENST00000322723 human ensembl 69_37n -1 known missense c.581 p.D194G 0.098 NULL pfam_RRM_dom,smart_RRM_dom,smart_RRM_dom_euk,pfscan_RRM_dom - no_errors NCL HGNC ENSG00000115053 116 0 0.00 28 14 33.33 - - - NOL6 0 genome.wustl.edu 37 9 33464042 33464042 + Missense_Mutation SNP G G A TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 9 33464042 33464042 G A SNP NOL6 ENST00000297990 human ensembl 69_37n -1 known missense c.2897 p.S966L 0.834 pfam_Nrap pfam_Nrap - no_errors NOL6 HGNC ENSG00000165271 96 0 0.00 35 20 36.36 - - - PBXIP1 0 genome.wustl.edu 37 1 154919991 154919991 + Missense_Mutation SNP G G C TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 1 154919991 154919991 G C SNP PBXIP1 ENST00000368463 human ensembl 69_37n -1 known missense c.772 p.P258A 0.000 NULL NULL - no_errors PBXIP1 HGNC ENSG00000163346 46 0 0.00 24 13 35.14 - - - PCDHA7 0 genome.wustl.edu 37 5 140215913 140215913 + Missense_Mutation SNP G G T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 5 140215913 140215913 G T SNP PCDHA7 ENST00000525929 human ensembl 69_37n +1 known missense c.1945 p.V649L 0.847 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 21 0 0.00 3 8 72.73 - - - POLR1D 0 genome.wustl.edu 37 13 28197146 28197146 + Missense_Mutation SNP C C T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 13 28197146 28197146 C T SNP POLR1D ENST00000302979 human ensembl 69_37n +1 known missense c.161 p.S54F 1.000 pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like - no_errors POLR1D HGNC ENSG00000186184 114 0 0.00 11 7 38.89 - - - PSMB6 0 genome.wustl.edu 37 17 4701319 4701319 + Missense_Mutation SNP A A G TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 17 4701319 4701319 A G SNP PSMB6 ENST00000270586 human ensembl 69_37n +1 known missense c.448 p.M150V 1.000 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB6 HGNC ENSG00000142507 114 1 0.87 70 19 21.11 - - - PSMC4 0 genome.wustl.edu 37 19 40480653 40480654 + Frame_Shift_Ins INS - - C TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 19 40480653 40480654 - C INS PSMC4 ENST00000157812 human ensembl 69_37n +1 known frame_shift_ins c.591_592 p.R199fs 0.585:0.996 smart_AAA+_ATPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC4 HGNC ENSG00000013275 39 0 0.00 37 5 11.90 - - - SLC9A6 0 genome.wustl.edu 37 X 135126695 135126695 + Missense_Mutation SNP A A T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa X 135126695 135126695 A T SNP SLC9A6 ENST00000370695 human ensembl 69_37n +1 known missense c.1918 p.N640Y 1.000 NULL pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger - no_errors SLC9A6 HGNC ENSG00000198689 153 0 0.00 139 70 33.49 - - - SLITRK2 0 genome.wustl.edu 37 X 144905128 144905129 + Frame_Shift_Ins INS - - T TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa X 144905128 144905129 - T INS SLITRK2 ENST00000370490 human ensembl 69_37n +1 known frame_shift_ins c.1185_1186 p.L395fs 0.927:0.740 NULL pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors SLITRK2 HGNC ENSG00000185985 201 0 0.00 38 22 36.67 - - - STXBP5 0 genome.wustl.edu 37 6 147684477 147684477 + Missense_Mutation SNP T T A TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 6 147684477 147684477 T A SNP STXBP5 ENST00000321680 human ensembl 69_37n +1 known missense c.2552 p.I851K 1.000 superfamily_WD40_repeat_dom pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 147 1 0.68 127 54 29.83 - - - WDR72 0 genome.wustl.edu 37 15 53907944 53907944 + Missense_Mutation SNP T T C TCGA-A8-A083-01A-21W-A019-09 TCGA-A8-A083-10A-01W-A021-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 1904e458-1a6c-4e91-88cc-10ee154ded5b a3d7f86d-e67c-4588-9a94-f6c98ed06faa 15 53907944 53907944 T C SNP WDR72 ENST00000360509 human ensembl 69_37n -1 known missense c.2459 p.N820S 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 644 0 0.00 741 128 14.70 - - -