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 ARSJ 0 genome.wustl.edu 37 4 114823652 114823652 + Silent SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 4 114823652 114823652 G A SNP ARSJ ENST00000315366 human ensembl 69_37n -1 known silent c.1578 p.F526 1.000 superfamily_Alkaline_phosphatase_core pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors ARSJ HGNC ENSG00000180801 155 0 0.00 125 18 12.59 - - - ATP11A 0 genome.wustl.edu 37 13 113485824 113485824 + Missense_Mutation SNP A A G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 13 113485824 113485824 A G SNP ATP11A ENST00000375630 human ensembl 69_37n +1 known missense c.1357 p.I453V 1.000 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ENSG00000068650 78 0 0.00 40 5 10.87 - - - BACE2 0 genome.wustl.edu 37 21 42617984 42617984 + Silent SNP A A G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 21 42617984 42617984 A G SNP BACE2 ENST00000330333 human ensembl 69_37n +1 known silent c.978 p.A326 0.822 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE2 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE,prints_Pept_A1_BACE2,prints_Peptidase_A1,prints_Pept_A1_BACE1 - no_errors BACE2 HGNC ENSG00000182240 47 0 0.00 32 4 11.11 - - - BCORL1 0 genome.wustl.edu 37 X 129149801 129149801 + Missense_Mutation SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 X 129149801 129149801 C T SNP BCORL1 ENST00000303743 human ensembl 69_37n +1 known missense c.3053 p.P1018L 0.995 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors BCORL1 HGNC ENSG00000085185 98 0 0.00 62 8 11.43 - - - BPTF 0 genome.wustl.edu 37 17 65914927 65914927 + Missense_Mutation SNP C C A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 65914927 65914927 C A SNP BPTF ENST00000321892 human ensembl 69_37n +1 known missense c.5779 p.P1927T 1.000 NULL pfam_Bromodomain,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BPTF HGNC ENSG00000171634 162 0 0.00 88 49 35.51 - - - C1orf173 0 genome.wustl.edu 37 1 75038620 75038620 + Missense_Mutation SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 1 75038620 75038620 G A SNP C1orf173 ENST00000326665 human ensembl 69_37n -1 known missense c.2774 p.A925V 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 251 0 0.00 160 19 10.61 - - - C20orf26 0 genome.wustl.edu 37 20 20269280 20269280 + Missense_Mutation SNP G G T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 20 20269280 20269280 G T SNP C20orf26 ENST00000245957 human ensembl 69_37n +1 known missense c.2824 p.V942L 0.997 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 91 0 0.00 87 16 15.53 - - - CDH17 0 genome.wustl.edu 37 8 95172379 95172379 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 8 95172379 95172379 C G SNP CDH17 ENST00000520952 human ensembl 69_37n -1 known missense c.55 p.D19H 0.976 superfamily_Cadherin-like,pfscan_Cadherin superfamily_Cadherin-like,pfscan_Cadherin - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CDH17 HGNC ENSG00000079112 197 0 0.00 175 56 24.24 - - - CHI3L1 0 genome.wustl.edu 37 1 203151921 203151921 + Missense_Mutation SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 1 203151921 203151921 G A SNP CHI3L1 ENST00000404436 human ensembl 69_37n -1 known missense c.13 p.R5C 0.385 pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CHI3L1 HGNC ENSG00000133048 108 0 0.00 90 21 18.92 - - - COL1A1 0 genome.wustl.edu 37 17 48263242 48263242 + Missense_Mutation SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 48263242 48263242 C T SNP COL1A1 ENST00000225964 human ensembl 69_37n -1 known missense c.4145 p.G1382D 1.000 pfam_Fib_collagen_C,smart_Fib_collagen_C pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 112 0 0.00 202 36 15.06 - - - COL1A1 0 genome.wustl.edu 37 17 48264447 48264447 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 48264447 48264447 C G SNP COL1A1 ENST00000225964 human ensembl 69_37n -1 known missense c.3460 p.G1154R 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 47 0 0.00 97 27 21.77 - - - COL1A1 0 genome.wustl.edu 37 17 48266586 48266586 + Silent SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 48266586 48266586 C T SNP COL1A1 ENST00000225964 human ensembl 69_37n -1 known silent c.2880 p.V960 1.000 NULL pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 57 0 0.00 134 23 14.65 - - - COL1A1 0 genome.wustl.edu 37 17 48267243 48267243 + Missense_Mutation SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 48267243 48267243 C T SNP COL1A1 ENST00000225964 human ensembl 69_37n -1 known missense c.2590 p.A864T 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,pfam_VWF_C,superfamily_Fibrinogen_a/b/g_C,smart_VWF_C,smart_Fib_collagen_C,pfscan_VWF_C - no_errors COL1A1 HGNC ENSG00000108821 42 0 0.00 71 15 17.44 - - - COL8A1 0 genome.wustl.edu 37 3 99513747 99513747 + Silent SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 3 99513747 99513747 G A SNP COL8A1 ENST00000261037 human ensembl 69_37n +1 known silent c.1002 p.G334 0.994 NULL pfam_Collagen,pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q - no_errors COL8A1 HGNC ENSG00000144810 38 0 0.00 27 7 20.59 - - - CPEB2 0 genome.wustl.edu 37 4 15060048 15060048 + Missense_Mutation SNP A A G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 4 15060048 15060048 A G SNP CPEB2 ENST00000538197 human ensembl 69_37n +1 known missense c.2465 p.Y822C 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors CPEB2 HGNC ENSG00000137449 218 0 0.00 268 30 10.03 - - - CR1 0 genome.wustl.edu 37 1 207697209 207697209 + Missense_Mutation SNP A A G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 1 207697209 207697209 A G SNP CR1 ENST00000367049 human ensembl 69_37n +1 known missense c.741 p.I247M 0.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CR1 HGNC ENSG00000203710 93 0 0.00 81 16 16.49 - - - DIDO1 0 genome.wustl.edu 37 20 61523338 61523338 + Splice_Site SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 20 61523338 61523338 C G SNP DIDO1 ENST00000266070 human ensembl 69_37n -1 known splice_site c.3345+1 e12+1 1.000 - - - no_errors DIDO1 HGNC ENSG00000101191 107 0 0.00 87 11 11.22 - - - DNTT 0 genome.wustl.edu 37 10 98078170 98078170 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 10 98078170 98078170 C G SNP DNTT ENST00000371174 human ensembl 69_37n +1 known missense c.265 p.Q89E 0.401 pfam_BRCT_dom,superfamily_BRCT_dom,smart_BRCT_dom,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom pfam_DNA_pol_lambd_fingers_domain,pfam_BRCT_dom,pfam_Nucleotidyltransferase,superfamily_DNA-dir_DNA_pol_X_beta-like_N,superfamily_DNA_pol_lambd_fingers_domain,superfamily_BRCT_dom,smart_BRCT_dom,smart_DNA-dir_DNA_pol_X,pirsf_DNA_nucleotidylexotransferase,pfscan_BRCT_dom,prints_DNA_nucleotidylexotransferase,prints_DNA_pol_X,prints_DNA_pol_X_beta-like - no_errors DNTT HGNC ENSG00000107447 121 0 0.00 94 20 17.54 - - - EARS2 0 genome.wustl.edu 37 16 23546520 23546520 + Missense_Mutation SNP T T C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 16 23546520 23546520 T C SNP EARS2 ENST00000341597 human ensembl 69_37n -1 known missense c.647 p.D216G 1.000 pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,tigrfam_Glu-tRNA-synth_Ib_bac/mito pfam_Glu/Gln-tRNA-synth_Ib_cat-dom,superfamily_aa-tRNA-synth_I_codon-bd,prints_Glu/Gln-tRNA-synth_Ib,tigrfam_Glu-tRNA-synth_Ib_bac/mito - no_errors EARS2 HGNC ENSG00000103356 46 0 0.00 44 8 15.09 - - - ENPP3 0 genome.wustl.edu 37 6 132014640 132014640 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 6 132014640 132014640 C G SNP ENPP3 ENST00000357639 human ensembl 69_37n +1 known missense c.1288 p.R430G 0.916 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom - no_errors ENPP3 HGNC ENSG00000154269 188 0 0.00 197 43 17.84 - - - ERCC1 0 genome.wustl.edu 37 19 45924518 45924518 + Nonsense_Mutation SNP G G C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 19 45924518 45924518 G C SNP ERCC1 ENST00000013807 human ensembl 69_37n -1 known nonsense c.239 p.S80* 0.004 NULL pfam_DNA_repair_Rad10,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,tigrfam_DNA_repair_Rad10 - no_errors ERCC1 HGNC ENSG00000012061 112 0 0.00 69 8 10.39 - - - FLG2 0 genome.wustl.edu 37 1 152324739 152324739 + Silent SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 1 152324739 152324739 G A SNP FLG2 ENST00000388718 human ensembl 69_37n -1 known silent c.5523 p.D1841 0.000 NULL pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 675 1 0.15 469 145 23.50 - - - GARS 0 genome.wustl.edu 37 7 30649281 30649281 + Silent SNP A A G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 7 30649281 30649281 A G SNP GARS ENST00000389266 human ensembl 69_37n +1 known silent c.816 p.L272 0.370 pfam_aa-tRNA-synt_IIb_cons-dom,pfscan_aa-tRNA-synth_II,tigrfam_tRNA-synt_gly pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_WHEP-TRS,superfamily_Anticodon-bd,superfamily_S15_NS1_RNA-bd,pfscan_aa-tRNA-synth_II,pfscan_WHEP-TRS,prints_tRNA-synt_gly,tigrfam_tRNA-synt_gly - no_errors GARS HGNC ENSG00000106105 150 0 0.00 123 45 26.63 - - - GAS6 0 genome.wustl.edu 37 13 114535690 114535690 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 13 114535690 114535690 C G SNP GAS6 ENST00000357389 human ensembl 69_37n -1 known missense c.999 p.K333N 0.975 superfamily_ConA-like_lec_gl pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,superfamily_ConA-like_lec_gl,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors GAS6 HGNC ENSG00000183087 36 0 0.00 12 7 36.84 - - - HTT 0 genome.wustl.edu 37 4 3190715 3190715 + Missense_Mutation SNP A A G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 4 3190715 3190715 A G SNP HTT ENST00000355072 human ensembl 69_37n +1 known missense c.5263 p.I1755V 1.000 NULL pfam_Huntingtin_middle-repeat,pfam_HEAT,superfamily_ARM-type_fold,prints_Huntingtin - no_errors HTT HGNC ENSG00000197386 252 0 0.00 226 57 20.00 - - - IARS 0 genome.wustl.edu 37 9 95003139 95003139 + Missense_Mutation SNP T T A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 9 95003139 95003139 T A SNP IARS ENST00000375643 human ensembl 69_37n -1 known missense c.3282 p.Q1094H 1.000 NULL pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-synt,tigrfam_Ile-tRNA-synt - no_errors IARS HGNC ENSG00000196305 131 0 0.00 147 29 16.48 - - - IKBKAP 0 genome.wustl.edu 37 9 111659236 111659236 + Missense_Mutation SNP G G C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 9 111659236 111659236 G C SNP IKBKAP ENST00000374647 human ensembl 69_37n -1 known missense c.2584 p.Q862E 1.000 pfam_IKI3,pirsf_IKI3 pfam_IKI3,superfamily_ARM-type_fold,superfamily_UBA-like,pirsf_IKI3 - no_errors IKBKAP HGNC ENSG00000070061 177 0 0.00 119 60 33.52 - - - KRT32 0 genome.wustl.edu 37 17 39623317 39623317 + Silent SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 39623317 39623317 G A SNP KRT32 ENST00000225899 human ensembl 69_37n -1 known silent c.261 p.Y87 0.000 NULL pfam_F,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT32 HGNC ENSG00000108759 77 0 0.00 42 6 12.50 - - - LRRK2 0 genome.wustl.edu 37 12 40687422 40687422 + Nonsense_Mutation SNP T T A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 12 40687422 40687422 T A SNP LRRK2 ENST00000298910 human ensembl 69_37n +1 known nonsense c.2765 p.L922* 0.605 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 120 0 0.00 110 20 15.38 - - - MCC 0 genome.wustl.edu 37 5 112420867 112420867 + Missense_Mutation SNP G G C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 5 112420867 112420867 G C SNP MCC ENST00000302475 human ensembl 69_37n -1 known missense c.969 p.I323M 0.518 NULL pfam_USH1C-bd_PDZ_domain,superfamily_tRNA-bd_arm - no_errors MCC HGNC ENSG00000171444 188 0 0.00 168 39 18.84 - - - MTTP 0 genome.wustl.edu 37 4 100530060 100530060 + Silent SNP G G T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 4 100530060 100530060 G T SNP MTTP ENST00000265517 human ensembl 69_37n +1 known silent c.1695 p.G565 0.995 pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,superfamily_Lipid_transp_b-sht_shell,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors MTTP HGNC ENSG00000138823 106 0 0.00 122 18 12.86 - - - MYH6 0 genome.wustl.edu 37 14 23863422 23863422 + Missense_Mutation SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 14 23863422 23863422 G A SNP MYH6 ENST00000356287 human ensembl 69_37n -1 known missense c.2540 p.T847M 1.000 NULL pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH6 HGNC ENSG00000197616 249 0 0.00 112 47 29.56 - - - PCDHB5 0 genome.wustl.edu 37 5 140517348 140517348 + Missense_Mutation SNP G G C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 5 140517348 140517348 G C SNP PCDHB5 ENST00000231134 human ensembl 69_37n +1 known missense c.2332 p.A778P 0.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB5 HGNC ENSG00000113209 134 0 0.00 93 13 12.26 - - - PLXNB2 0 genome.wustl.edu 37 22 50719581 50719583 + In_Frame_Del DEL TCT TCT - TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 22 50719581 50719583 TCT - DEL PLXNB2 ENST00000359337 human ensembl 69_37n -1 known in_frame_del c.3700_3698 p.K1233in_frame_del 1.000:1.000:1.000 NULL pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_IPT_TIG_rcpt,pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag - no_errors PLXNB2 HGNC ENSG00000196576 50 0 0.00 22 6 21.43 - - - PPP1R3A 0 genome.wustl.edu 37 7 113518116 113518116 + Frame_Shift_Del DEL T T - TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 7 113518116 113518116 T - DEL PPP1R3A ENST00000284601 human ensembl 69_37n -1 known frame_shift_del c.3031 p.M1011fs 0.002 NULL pfam_CBM_21,pfscan_CBM_21 - no_errors PPP1R3A HGNC ENSG00000154415 221 0 0.00 206 28 11.86 - - - PRPF8 0 genome.wustl.edu 37 17 1557290 1557290 + Missense_Mutation SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 1557290 1557290 G A SNP PRPF8 ENST00000304992 human ensembl 69_37n -1 known missense c.6008 p.T2003I 1.000 NULL pfam_PROCN,pfam_PRP8_domainIV,pfam_Prp8_U6-snRNA-bd,pfam_Pre-mRNA-splicing_factor-8,pfam_Prp8_U5-snRNA-bd,pfam_PRO_C,pfam_RRM_spliceosomal_PrP8,pfam_JAB1_Mov34_MPN_PAD1,superfamily_Cupredoxin,superfamily_Histone-fold,smart_JAB1_Mov34_MPN_PAD1 - no_errors PRPF8 HGNC ENSG00000174231 229 0 0.00 200 24 10.67 - - - PRX 0 genome.wustl.edu 37 19 40902578 40902578 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 19 40902578 40902578 C G SNP PRX ENST00000324001 human ensembl 69_37n -1 known missense c.1681 p.E561Q 0.232 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PRX HGNC ENSG00000105227 76 0 0.00 40 11 21.57 - - - QRICH2 0 genome.wustl.edu 37 17 74277976 74277976 + Missense_Mutation SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 17 74277976 74277976 C T SNP QRICH2 ENST00000262765 human ensembl 69_37n -1 known missense c.3734 p.R1245Q 0.989 NULL NULL - no_errors QRICH2 HGNC ENSG00000129646 45 0 0.00 23 4 14.81 - - - RGMB 0 genome.wustl.edu 37 5 98129189 98129190 + Frame_Shift_Del DEL AC AC - TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 AC AC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 5 98129189 98129190 AC - DEL RGMB ENST00000308234 human ensembl 69_37n +1 known frame_shift_del c.1169_1170 p.L392fs 1.000:1.000 pfam_RGM_C pfam_RGM_C,pfam_RGM_N - no_errors RGMB HGNC ENSG00000174136 85 0 0.00 53 18 24.66 - - - SKOR1 0 genome.wustl.edu 37 15 68122564 68122564 + Missense_Mutation SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 15 68122564 68122564 G A SNP SKOR1 ENST00000380035 human ensembl 69_37n +1 known missense c.2443 p.D815N 0.992 NULL pfam_Transform_Ski,pfam_c-SKI_SMAD4-bd_dom,superfamily_DNA-bd_dom_put,superfamily_SAND_dom-like - no_errors SKOR1 HGNC ENSG00000188779 64 0 0.00 70 19 21.35 - - - SLC39A14 0 genome.wustl.edu 37 8 22277089 22277089 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 8 22277089 22277089 C G SNP SLC39A14 ENST00000359741 human ensembl 69_37n +1 known missense c.1357 p.Q453E 0.736 pfam_ZIP pfam_ZIP - no_errors SLC39A14 HGNC ENSG00000104635 170 0 0.00 121 27 18.24 - - - SNX21 0 genome.wustl.edu 37 20 44463689 44463689 + Silent SNP A A C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 20 44463689 44463689 A C SNP SNX21 ENST00000491381 human ensembl 69_37n +1 known silent c.381 p.A127 0.936 superfamily_Phox pfam_Phox,pfam_TPR-1,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX21 HGNC ENSG00000124104 48 0 0.00 32 6 15.38 - - - SORBS1 0 genome.wustl.edu 37 10 97157022 97157022 + Missense_Mutation SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 10 97157022 97157022 C T SNP SORBS1 ENST00000361941 human ensembl 69_37n -1 known missense c.1177 p.D393N 1.000 pfam_Sorb,smart_Sorb,pfscan_Sorb pfam_SH3_domain,pfam_SH3_2,pfam_Sorb,superfamily_SH3_domain,smart_Sorb,smart_SH3_domain,pfscan_Sorb,pfscan_SH3_domain - no_errors SORBS1 HGNC ENSG00000095637 211 0 0.00 155 53 25.24 - - - TBX19 0 genome.wustl.edu 37 1 168262381 168262381 + Splice_Site SNP G G C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 1 168262381 168262381 G C SNP TBX19 ENST00000367821 human ensembl 69_37n +1 known splice_site c.469-1 e3-1 1.000 - - - no_errors TBX19 HGNC ENSG00000143178 189 0 0.00 199 28 12.28 - - - TIFA 0 genome.wustl.edu 37 4 113199046 113199046 + Missense_Mutation SNP G G C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 4 113199046 113199046 G C SNP TIFA ENST00000361717 human ensembl 69_37n -1 known missense c.527 p.P176R 0.869 NULL pfam_FHA_dom,superfamily_SMAD_FHA_domain,pfscan_FHA_dom - no_errors TIFA HGNC ENSG00000145365 198 0 0.00 154 25 13.97 - - - TMEM191A 0 genome.wustl.edu 37 22 21055899 21055899 + RNA SNP G G C TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 22 21055899 21055899 G C SNP TMEM191A ENST00000359859 human ensembl 69_37n +1 known rna NULL NULL 0.009 - - - no_errors TMEM191A HGNC ENSG00000226287 179 0 0.00 178 23 11.44 - - - YDJC 0 genome.wustl.edu 37 22 21982871 21982871 + Missense_Mutation SNP G G A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 22 21982871 21982871 G A SNP YDJC ENST00000292778 human ensembl 69_37n -1 known missense c.808 p.R270W 0.989 pfam_Uncharacterised_UPF0249/HpnK pfam_Uncharacterised_UPF0249/HpnK - no_errors YDJC HGNC ENSG00000161179 25 0 0.00 11 5 31.25 - - - ZNF407 0 genome.wustl.edu 37 18 72347051 72347051 + Missense_Mutation SNP C C G TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 18 72347051 72347051 C G SNP ZNF407 ENST00000299687 human ensembl 69_37n +1 known missense c.4076 p.S1359C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2 - no_errors ZNF407 HGNC ENSG00000215421 57 0 0.00 40 24 37.50 - - - ZNF687 0 genome.wustl.edu 37 1 151261136 151261136 + Missense_Mutation SNP C C A TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 1 151261136 151261136 C A SNP ZNF687 ENST00000324048 human ensembl 69_37n +1 known missense c.2248 p.H750N 1.000 smart_Znf_C2H2-like smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 68 0 0.00 60 19 24.05 - - - ZNF710 0 genome.wustl.edu 37 15 90611078 90611078 + Missense_Mutation SNP C C T TCGA-C8-A132-01A-31D-A10Y-09 TCGA-C8-A132-10A-01D-A110-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c038ab30-af2f-4771-bf82-dcf19f32efab 57984eb7-bce9-4b03-8aa3-014ee4014165 15 90611078 90611078 C T SNP ZNF710 ENST00000268154 human ensembl 69_37n +1 known missense c.709 p.P237S 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF710 HGNC ENSG00000140548 16 0 0.00 5 4 44.44 - - -