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 ARHGEF26 0 genome.wustl.edu 37 3 153840379 153840379 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 3 153840379 153840379 C T SNP ARHGEF26 ENST00000356448 human ensembl 69_37n +1 known missense c.598 p.R200W 0.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF26 HGNC ENSG00000114790 13 0 0.00 26 38 59.38 - - - BRPF1 0 genome.wustl.edu 37 3 9781112 9781113 + Frame_Shift_Del DEL AG AG - TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 3 9781112 9781113 AG - DEL BRPF1 ENST00000383829 human ensembl 69_37n +1 known frame_shift_del c.1029_1030 p.D344fs 0.841:1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 37 0 0.00 18 6 25.00 - - - BRPF1 0 genome.wustl.edu 37 3 9781112 9781113 + Frame_Shift_Del DEL AG AG - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 3 9781112 9781113 AG - DEL BRPF1 ENST00000383829 human ensembl 69_37n +1 known frame_shift_del c.1029_1030 p.D344fs 0.841:1.000 NULL pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,prints_Bromodomain,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Znf_C2H2,pfscan_Bromodomain - no_errors BRPF1 HGNC ENSG00000156983 37 0 0.00 15 6 28.57 - - - CAPN2 0 genome.wustl.edu 37 1 223933013 223933013 + Nonsense_Mutation SNP G G A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 1 223933013 223933013 G A SNP CAPN2 ENST00000295006 human ensembl 69_37n +1 known nonsense c.432 p.W144* 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease,pfscan_Peptidase_C2_calpain_cat pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,prints_Calpain_cysteine_protease,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat - no_errors CAPN2 HGNC ENSG00000162909 74 0 0.00 33 4 10.81 - - - CARD8 0 genome.wustl.edu 37 19 48715046 48715046 + Missense_Mutation SNP A A T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 19 48715046 48715046 A T SNP CARD8 ENST00000391898 human ensembl 69_37n -1 known missense c.1535 p.L512Q 0.000 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 72 0 0.00 74 24 24.49 - - - CARD8 0 genome.wustl.edu 37 19 48715046 48715046 + Missense_Mutation SNP A A T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 19 48715046 48715046 A T SNP CARD8 ENST00000391898 human ensembl 69_37n -1 known missense c.1535 p.L512Q 0.000 pfam_CARD,superfamily_DEATH-like,pfscan_CARD pfam_CARD,superfamily_DEATH-like,pfscan_CARD - no_errors CARD8 HGNC ENSG00000105483 72 0 0.00 24 14 36.84 - - - CNNM2 0 genome.wustl.edu 37 10 104679434 104679434 + Silent SNP C C T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 10 104679434 104679434 C T SNP CNNM2 ENST00000457502 human ensembl 69_37n +1 known silent c.1197 p.C399 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 47 0 0.00 12 8 40.00 - - - CNNM2 0 genome.wustl.edu 37 10 104679434 104679434 + Silent SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 10 104679434 104679434 C T SNP CNNM2 ENST00000457502 human ensembl 69_37n +1 known silent c.1197 p.C399 1.000 pfam_DUF21 pfam_DUF21,superfamily_cNMP-bd-like - no_errors CNNM2 HGNC ENSG00000148842 47 0 0.00 12 6 33.33 - - - CNTNAP3 0 genome.wustl.edu 37 9 39085796 39085796 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 9 39085796 39085796 C T SNP CNTNAP3 ENST00000297668 human ensembl 69_37n -1 known missense c.3379 p.V1127I 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 87 0 0.00 31 16 34.04 - - - CNTNAP3 0 genome.wustl.edu 37 9 39085796 39085796 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 9 39085796 39085796 C T SNP CNTNAP3 ENST00000297668 human ensembl 69_37n -1 known missense c.3379 p.V1127I 0.994 pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EGF-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP3 HGNC ENSG00000106714 87 0 0.00 187 87 31.75 - - - CSHL1 0 genome.wustl.edu 37 17 61988159 61988159 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 17 61988159 61988159 C T SNP CSHL1 ENST00000309894 human ensembl 69_37n -1 known missense c.136 p.A46T 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC ENSG00000204414 61 0 0.00 37 8 17.78 - - - CSHL1 0 genome.wustl.edu 37 17 61988159 61988159 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 17 61988159 61988159 C T SNP CSHL1 ENST00000309894 human ensembl 69_37n -1 known missense c.136 p.A46T 1.000 pfam_Somatotropin,superfamily_4_helix_cytokine-like_core pfam_Somatotropin,superfamily_4_helix_cytokine-like_core,prints_Somatotropin - no_errors CSHL1 HGNC ENSG00000204414 61 0 0.00 45 13 22.41 - - - CSRNP3 0 genome.wustl.edu 37 2 166532860 166532860 + Silent SNP C C T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 2 166532860 166532860 C T SNP CSRNP3 ENST00000314499 human ensembl 69_37n +1 known silent c.447 p.S149 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 17 0 0.00 7 7 50.00 - - - CSRNP3 0 genome.wustl.edu 37 2 166532860 166532860 + Silent SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 2 166532860 166532860 C T SNP CSRNP3 ENST00000314499 human ensembl 69_37n +1 known silent c.447 p.S149 1.000 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 17 0 0.00 20 7 25.93 - - - DCST2 0 genome.wustl.edu 37 1 154996080 154996080 + Frame_Shift_Del DEL C C - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 1 154996080 154996080 C - DEL DCST2 ENST00000295536 human ensembl 69_37n -1 known frame_shift_del c.1887 p.W629fs 0.001 NULL pfam_DC_STAMP-like - no_errors DCST2 HGNC ENSG00000163354 58 0 0.00 13 2 13.33 - - - DDX26B 0 genome.wustl.edu 37 X 134680717 134680717 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd X 134680717 134680717 C T SNP DDX26B ENST00000370752 human ensembl 69_37n +1 known missense c.520 p.R174C 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 108 0 0.00 31 47 60.26 - - - DDX26B 0 genome.wustl.edu 37 X 134680717 134680717 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd X 134680717 134680717 C T SNP DDX26B ENST00000370752 human ensembl 69_37n +1 known missense c.520 p.R174C 1.000 pfscan_VWF_A pfscan_VWF_A - no_errors DDX26B HGNC ENSG00000165359 108 0 0.00 9 11 55.00 - - - DDX50 0 genome.wustl.edu 37 10 70679674 70679676 + In_Frame_Del DEL TAT TAT - TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 TAT TAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 10 70679674 70679676 TAT - DEL DDX50 ENST00000373585 human ensembl 69_37n +1 known in_frame_del c.1176_1178 p.I394in_frame_del 1.000:1.000:1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX50 HGNC ENSG00000107625 58 0 0.00 28 4 12.50 - - - DIAPH3 0 genome.wustl.edu 37 13 60485904 60485904 + Frame_Shift_Del DEL T T - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 13 60485904 60485904 T - DEL DIAPH3 ENST00000400324 human ensembl 69_37n -1 known frame_shift_del c.2332 p.S778fs 1.000 pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg - no_errors DIAPH3 HGNC ENSG00000139734 56 0 0.00 14 2 12.50 - - - DKC1 0 genome.wustl.edu 37 X 153993226 153993228 + In_Frame_Del DEL AGA AGA - TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd X 153993226 153993228 AGA - DEL DKC1 ENST00000369550 human ensembl 69_37n +1 known in_frame_del c.69_71 p.E25in_frame_del 0.070:0.944:0.966 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 147 0 0.00 85 12 12.24 - - - DKC1 0 genome.wustl.edu 37 X 153993226 153993228 + In_Frame_Del DEL AGA AGA - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 AGA AGA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd X 153993226 153993228 AGA - DEL DKC1 ENST00000369550 human ensembl 69_37n +1 known in_frame_del c.69_71 p.E25in_frame_del 0.070:0.944:0.966 NULL pfam_Dyskerin-like,pfam_PsdUridine_synth,pfam_PUA,superfamily_PsdUridine_synth_cat_dom,superfamily_PUA-like_domain,smart_PUA,pfscan_PUA,tigrfam_Pseudouridine_synthase-related,tigrfam_Uncharacterised_CHP00451 - no_errors DKC1 HGNC ENSG00000130826 147 0 0.00 78 10 11.36 - - - DMXL2 0 genome.wustl.edu 37 15 51766573 51766575 + In_Frame_Del DEL ACA ACA - TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 15 51766573 51766575 ACA - DEL DMXL2 ENST00000543779 human ensembl 69_37n -1 known in_frame_del c.7181_7179 p.V2394in_frame_del 1.000:1.000:0.993 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 29 0 0.00 17 3 15.00 - - - DMXL2 0 genome.wustl.edu 37 15 51766573 51766575 + In_Frame_Del DEL ACA ACA - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 ACA ACA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 15 51766573 51766575 ACA - DEL DMXL2 ENST00000543779 human ensembl 69_37n -1 known in_frame_del c.7181_7179 p.V2394in_frame_del 1.000:1.000:0.993 NULL pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DMXL2 HGNC ENSG00000104093 29 0 0.00 14 3 17.65 - - - DNAH11 0 genome.wustl.edu 37 7 21745090 21745090 + Missense_Mutation SNP G G C TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 21745090 21745090 G C SNP DNAH11 ENST00000328843 human ensembl 69_37n +1 known missense c.6502 p.E2168Q 1.000 NULL pfam_Dynein_heavy,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase - no_errors DNAH11 HGNC ENSG00000105877 46 0 0.00 65 10 13.33 - - - DNAJB12 0 genome.wustl.edu 37 10 74103268 74103268 + Frame_Shift_Del DEL C C - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 10 74103268 74103268 C - DEL DNAJB12 ENST00000338820 human ensembl 69_37n -1 known frame_shift_del c.415 p.V139fs 1.000 superfamily_DnaJ_N pfam_DUF1977_DnaJ-like,pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,prints_Hsp_DnaJ,pfscan_DnaJ_N - no_errors DNAJB12 HGNC ENSG00000148719 55 0 0.00 16 2 11.11 - - - EXOC6 0 genome.wustl.edu 37 10 94654759 94654760 + Frame_Shift_Ins INS - - A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 10 94654759 94654760 - A INS EXOC6 ENST00000371547 human ensembl 69_37n +1 known frame_shift_ins c.442_443 p.L148fs 1.000:1.000 pirsf_Sec15 pfam_Sec15,pirsf_Sec15 - no_errors EXOC6 HGNC ENSG00000138190 83 0 0.00 24 5 17.24 - - - FAM182B 0 genome.wustl.edu 37 20 25755549 25755549 + Missense_Mutation SNP C C A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 20 25755549 25755549 C A SNP FAM182B ENST00000376403 human ensembl 69_37n -1 putative missense c.407 p.G136V 0.159 NULL NULL - no_errors FAM182B HGNC ENSG00000175170 8 0 0.00 7 5 41.67 - - - FAM86B2 0 genome.wustl.edu 37 8 12285132 12285132 + Missense_Mutation SNP C C G TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 8 12285132 12285132 C G SNP FAM86B2 ENST00000393715 human ensembl 69_37n -1 known missense c.242 p.C81S 0.001 NULL NULL - no_errors FAM86B2 HGNC ENSG00000145002 13 0 0.00 1 3 75.00 - - - FANCM 0 genome.wustl.edu 37 14 45636186 45636187 + Frame_Shift_Ins INS - - T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 14 45636186 45636187 - T INS FANCM ENST00000267430 human ensembl 69_37n +1 known frame_shift_ins c.1822_1823 p.Y609fs 0.999:1.000 pfscan_Helicase_C pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 38 0 0.00 18 3 14.29 - - - FBXO11 0 genome.wustl.edu 37 2 48060178 48060178 + Frame_Shift_Del DEL A A - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 2 48060178 48060178 A - DEL FBXO11 ENST00000403359 human ensembl 69_37n -1 known frame_shift_del c.966 p.I322fs 1.000 superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO11 HGNC ENSG00000138081 68 0 0.00 30 4 10.81 - - - FCGBP 0 genome.wustl.edu 37 19 40383831 40383833 + In_Frame_Del DEL GAT GAT - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 GAT GAT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 19 40383831 40383833 GAT - DEL FCGBP ENST00000221347 human ensembl 69_37n -1 known in_frame_del c.9779_9777 p.S3260in_frame_del 0.003:0.001:0.000 smart_VWC_out pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 11 0 0.00 4 2 33.33 - - - GGT5 0 genome.wustl.edu 37 22 24621545 24621545 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 22 24621545 24621545 G A SNP GGT5 ENST00000425408 human ensembl 69_37n -1 putative missense c.113 p.A38V 0.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GGT5 HGNC ENSG00000099998 32 0 0.00 19 13 39.39 - - - GGT5 0 genome.wustl.edu 37 22 24621545 24621545 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 22 24621545 24621545 G A SNP GGT5 ENST00000425408 human ensembl 69_37n -1 putative missense c.113 p.A38V 0.000 pfam_GGT_peptidase pfam_GGT_peptidase,prints_GGT_peptidase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region GGT5 HGNC ENSG00000099998 32 0 0.00 7 19 73.08 - - - GOLGA6L6 0 genome.wustl.edu 37 15 20740537 20740538 + In_Frame_Ins INS - - CTC TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 15 20740537 20740538 - CTC INS GOLGA6L6 ENST00000427390 human ensembl 69_37n -1 known in_frame_ins c.1213_1212 p.404in_frame_insE 0.717:0.736 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 11 0 0.00 4 7 63.64 - - - HDAC9 0 genome.wustl.edu 37 7 18706135 18706136 + Frame_Shift_Del DEL TA TA - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 18706135 18706136 TA - DEL HDAC9 ENST00000405010 human ensembl 69_37n +1 known frame_shift_del c.1758_1759 p.K587fs 1.000:1.000 NULL pfam_Hist_deacetylase_Gln_rich_N - no_errors HDAC9 HGNC ENSG00000048052 29 0 0.00 7 2 18.18 - - - HECW1 0 genome.wustl.edu 37 7 43436434 43436434 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 43436434 43436434 G A SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known missense c.577 p.D193N 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 83 0 0.00 71 12 14.29 - - - HECW1 0 genome.wustl.edu 37 7 43436434 43436434 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 43436434 43436434 G A SNP HECW1 ENST00000395891 human ensembl 69_37n +1 known missense c.577 p.D193N 1.000 NULL pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_WW_Rsp5_WWP,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP - no_errors HECW1 HGNC ENSG00000002746 83 0 0.00 77 13 14.44 - - - HSP90B1 0 genome.wustl.edu 37 12 104332121 104332121 + Nonsense_Mutation SNP G G T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 12 104332121 104332121 G T SNP HSP90B1 ENST00000299767 human ensembl 69_37n +1 known nonsense c.859 p.E287* 0.987 pirsf_Hsp90,pfam_Hsp90,superfamily_ATPase-like_ATP-bd pirsf_Hsp90,pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,prints_Hsp90_N - no_errors HSP90B1 HGNC ENSG00000166598 50 0 0.00 16 4 20.00 - - - ITGAM 0 genome.wustl.edu 37 16 31332921 31332922 + Frame_Shift_Ins INS - - C TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 16 31332921 31332922 - C INS ITGAM ENST00000544665 human ensembl 69_37n +1 known frame_shift_ins c.1978_1979 p.K660fs 0.144:0.148 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 53 0 0.00 17 2 10.53 - - - JMJD1C 0 genome.wustl.edu 37 10 64957271 64957271 + Missense_Mutation SNP T T G TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 10 64957271 64957271 T G SNP JMJD1C ENST00000327520 human ensembl 69_37n -1 novel missense c.1184 p.H395P 0.897 NULL pfscan_JmjC_dom - pseudogene:no_stop_codon:bad_bp_length_for_coding_region JMJD1C HGNC ENSG00000171988 63 0 0.00 48 11 18.64 - - - JMJD1C 0 genome.wustl.edu 37 10 64957271 64957271 + Missense_Mutation SNP T T G TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 10 64957271 64957271 T G SNP JMJD1C ENST00000327520 human ensembl 69_37n -1 novel missense c.1184 p.H395P 0.897 NULL pfscan_JmjC_dom - pseudogene:no_stop_codon:bad_bp_length_for_coding_region JMJD1C HGNC ENSG00000171988 63 0 0.00 42 17 28.33 - - - KIF15 0 genome.wustl.edu 37 3 44867604 44867605 + Frame_Shift_Ins INS - - T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 3 44867604 44867605 - T INS KIF15 ENST00000326047 human ensembl 69_37n +1 known frame_shift_ins c.2623_2624 p.K875fs 1.000:1.000 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF15 HGNC ENSG00000163808 40 0 0.00 26 5 16.13 - - - KIF16B 0 genome.wustl.edu 37 20 16506751 16506751 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 20 16506751 16506751 C T SNP KIF16B ENST00000408042 human ensembl 69_37n -1 known missense c.217 p.V73I 0.989 pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 46 0 0.00 35 4 10.26 - - - LETM2 0 genome.wustl.edu 37 8 38260043 38260044 + Frame_Shift_Ins INS - - G TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 8 38260043 38260044 - G INS LETM2 ENST00000379957 human ensembl 69_37n +1 known frame_shift_ins c.985_986 p.I329fs 0.888:0.979 pfam_LETM1 pfam_LETM1 - no_errors LETM2 HGNC ENSG00000165046 39 0 0.00 23 3 11.54 - - - LIMK2 0 genome.wustl.edu 37 22 31655161 31655161 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 22 31655161 31655161 G A SNP LIMK2 ENST00000331728 human ensembl 69_37n +1 known missense c.307 p.V103M 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 109 0 0.00 33 14 29.79 - - - LIMK2 0 genome.wustl.edu 37 22 31655161 31655161 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 22 31655161 31655161 G A SNP LIMK2 ENST00000331728 human ensembl 69_37n +1 known missense c.307 p.V103M 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom - no_errors LIMK2 HGNC ENSG00000182541 109 0 0.00 23 13 36.11 - - - LMTK2 0 genome.wustl.edu 37 7 97833398 97833398 + Missense_Mutation SNP C C G TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 97833398 97833398 C G SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known missense c.4383 p.S1461R 1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 52 0 0.00 42 13 23.64 - - - LMTK2 0 genome.wustl.edu 37 7 97833398 97833398 + Missense_Mutation SNP C C G TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 97833398 97833398 C G SNP LMTK2 ENST00000297293 human ensembl 69_37n +1 known missense c.4383 p.S1461R 1.000 NULL 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK2 HGNC ENSG00000164715 52 0 0.00 28 10 26.32 - - - MUC12 0 genome.wustl.edu 37 7 100639154 100639155 + Frame_Shift_Ins INS - - C TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 100639154 100639155 - C INS MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_ins c.5739_5740 p.A1913fs 0.000:0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 20 0 0.00 9 3 25.00 - - - MUC12 0 genome.wustl.edu 37 7 100645406 100645407 + Frame_Shift_Del DEL TA TA - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 TA TA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 100645406 100645407 TA - DEL MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_del c.11991_11992 p.T3998fs 0.001:0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 8 0 0.00 4 2 33.33 - - - MUC12 0 genome.wustl.edu 37 7 100647332 100647333 + Frame_Shift_Ins INS - - A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 100647332 100647333 - A INS MUC12 ENST00000379442 human ensembl 69_37n +1 known frame_shift_ins c.13917_13918 p.Q4639fs 0.426:0.340 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 49 0 0.00 41 5 10.87 - - - MUC4 0 genome.wustl.edu 37 3 195506482 195506482 + Missense_Mutation SNP G G T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 3 195506482 195506482 G T SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known missense c.11969 p.T3990N 0.003 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 27 0 0.00 34 18 33.33 - - - MYO3B 0 genome.wustl.edu 37 2 171376010 171376010 + Missense_Mutation SNP C C G TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 2 171376010 171376010 C G SNP MYO3B ENST00000334231 human ensembl 69_37n +1 known missense c.3562 p.Q1188E 0.020 NULL pfam_Myosin_head_motor_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,pfscan_Prot_kinase_cat_dom,prints_Myosin_head_motor_dom - no_errors MYO3B HGNC ENSG00000071909 26 0 0.00 17 7 29.17 - - - NAA35 0 genome.wustl.edu 37 9 88592347 88592347 + Frame_Shift_Del DEL T T - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 9 88592347 88592347 T - DEL NAA35 ENST00000361671 human ensembl 69_37n +1 known frame_shift_del c.748 p.F250fs 1.000 NULL pfam_NatC_AcTrfase_Mak10 - no_errors NAA35 HGNC ENSG00000135040 100 0 0.00 17 2 10.53 - - - NEK1 0 genome.wustl.edu 37 4 170359332 170359333 + Frame_Shift_Ins INS - - AA TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 4 170359332 170359333 - AA INS NEK1 ENST00000507142 human ensembl 69_37n -1 known frame_shift_ins c.2666_2665 p.N889fs 0.233:0.323 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 143 0 0.00 18 2 10.00 - - - NPC1 0 genome.wustl.edu 37 18 21119843 21119843 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 18 21119843 21119843 G A SNP NPC1 ENST00000591051 human ensembl 69_37n -1 putative missense c.1805 p.A602V 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NPC1 HGNC ENSG00000141458 47 0 0.00 14 7 33.33 - - - NPC1 0 genome.wustl.edu 37 18 21119843 21119843 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 18 21119843 21119843 G A SNP NPC1 ENST00000591051 human ensembl 69_37n -1 putative missense c.1805 p.A602V 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL-typ,pfscan_SSD,tigrfam_NP_C_type - pseudogene:no_stop_codon:bad_bp_length_for_coding_region NPC1 HGNC ENSG00000141458 47 0 0.00 23 10 30.30 - - - NR1H2 0 genome.wustl.edu 37 19 50881804 50881806 + In_Frame_Del DEL GAA GAA - TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 GAA GAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 19 50881804 50881806 GAA - DEL NR1H2 ENST00000253727 human ensembl 69_37n +1 known in_frame_del c.498_500 p.K169in_frame_del 0.985:0.996:0.998 superfamily_Nucl_hormone_rcpt_ligand-bd pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt - no_errors NR1H2 HGNC ENSG00000131408 28 0 0.00 16 4 20.00 - - - NTNG2 0 genome.wustl.edu 37 9 135116302 135116302 + Frame_Shift_Del DEL A A - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 9 135116302 135116302 A - DEL NTNG2 ENST00000360670 human ensembl 69_37n +1 known frame_shift_del c.1246 p.N416fs 1.000 pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin pfam_Laminin_N,pfam_EGF_laminin,pfam_EGF_extracell,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors NTNG2 HGNC ENSG00000196358 33 0 0.00 7 2 22.22 - - - OASL 0 genome.wustl.edu 37 12 121458630 121458631 + Frame_Shift_Ins INS - - C TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 12 121458630 121458631 - C INS OASL ENST00000257570 human ensembl 69_37n -1 known frame_shift_ins c.1279_1278 p.L426fs 0.985:0.975 smart_Ubiquitin pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_2-5-oligoadenylate_synth_N,pfscan_Ubiquitin_supergroup - no_errors OASL HGNC ENSG00000135114 37 0 0.00 10 2 16.67 - - - OR4C6 0 genome.wustl.edu 37 11 55432931 55432932 + Frame_Shift_Ins INS - - T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 11 55432931 55432932 - T INS OR4C6 ENST00000314259 human ensembl 69_37n +1 known frame_shift_ins c.289_290 p.T97fs 0.004:0.018 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4C6 HGNC ENSG00000181903 88 0 0.00 15 2 11.76 - - - POTEG 0 genome.wustl.edu 37 14 19574243 19574243 + Missense_Mutation SNP C C A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 14 19574243 19574243 C A SNP POTEG ENST00000409832 human ensembl 69_37n +1 known missense c.1300 p.P434T 0.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors POTEG HGNC ENSG00000222036 31 0 0.00 0 4 100.00 - - - PPFIBP1 0 genome.wustl.edu 37 12 27841969 27841969 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 12 27841969 27841969 G A SNP PPFIBP1 ENST00000318304 human ensembl 69_37n +1 known missense c.2536 p.V846I 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 39 0 0.00 24 15 38.46 - - - PPFIBP1 0 genome.wustl.edu 37 12 27841969 27841969 + Missense_Mutation SNP G G A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 12 27841969 27841969 G A SNP PPFIBP1 ENST00000318304 human ensembl 69_37n +1 known missense c.2536 p.V846I 1.000 pfam_SAM_2,superfamily_SAM/pointed,smart_SAM pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIBP1 HGNC ENSG00000110841 39 0 0.00 28 26 48.15 - - - RAD50 0 genome.wustl.edu 37 5 131911476 131911478 + In_Frame_Del DEL AAG AAG - TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 5 131911476 131911478 AAG - DEL RAD50 ENST00000265335 human ensembl 69_37n +1 known in_frame_del c.221_223 p.E75in_frame_del 1.000:0.954:1.000 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 66 0 0.00 25 15 37.50 - - - RAD50 0 genome.wustl.edu 37 5 131911476 131911478 + In_Frame_Del DEL AAG AAG - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 AAG AAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 5 131911476 131911478 AAG - DEL RAD50 ENST00000265335 human ensembl 69_37n +1 known in_frame_del c.221_223 p.E75in_frame_del 1.000:0.954:1.000 tigrfam_Rad50 pfam_Rad50_Zn_hook,superfamily_Prefoldin,pfscan_Zn_hook_Rad50,tigrfam_Rad50 - no_errors RAD50 HGNC ENSG00000113522 66 0 0.00 21 15 41.67 - - - RALGAPB 0 genome.wustl.edu 37 20 37195849 37195852 + Frame_Shift_Del DEL ACAG ACAG - TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 20 37195849 37195852 ACAG - DEL RALGAPB ENST00000262879 human ensembl 69_37n +1 known frame_shift_del c.3928_3931 p.D1311fs 1.000:1.000:0.998:1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 47 0 0.00 45 16 26.23 - - - RALGAPB 0 genome.wustl.edu 37 20 37195849 37195852 + Frame_Shift_Del DEL ACAG ACAG - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 ACAG ACAG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 20 37195849 37195852 ACAG - DEL RALGAPB ENST00000262879 human ensembl 69_37n +1 known frame_shift_del c.3928_3931 p.D1311fs 1.000:1.000:0.998:1.000 pfscan_Rap_GAP superfamily_ARM-type_fold,pfscan_Rap_GAP - no_errors RALGAPB HGNC ENSG00000170471 47 0 0.00 49 39 44.32 - - - RFX1 0 genome.wustl.edu 37 19 14074007 14074009 + In_Frame_Del DEL TCG TCG - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 TCG TCG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 19 14074007 14074009 TCG - DEL RFX1 ENST00000254325 human ensembl 69_37n -1 known in_frame_del c.2651_2649 p.D883in_frame_del 1.000:1.000:0.991 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 39 0 0.00 11 9 45.00 - - - RNASE11 0 genome.wustl.edu 37 14 21052053 21052053 + Missense_Mutation SNP A A G TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 14 21052053 21052053 A G SNP RNASE11 ENST00000335950 human ensembl 69_37n -1 known missense c.581 p.V194A 0.997 superfamily_RNaseA_domain pfam_RNaseA_domain,superfamily_RNaseA_domain - no_errors RNASE11 HGNC ENSG00000173464 26 0 0.00 21 12 36.36 - - - RPGR 0 genome.wustl.edu 37 X 38145271 38145272 + In_Frame_Ins INS - - CCC TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd X 38145271 38145272 - CCC INS RPGR ENST00000378505 human ensembl 69_37n -1 known in_frame_ins c.2981_2980 p.994in_frame_insG 0.060:0.135 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 32 0 0.00 21 4 16.00 - - - RPGR 0 genome.wustl.edu 37 X 38145287 38145289 + In_Frame_Del DEL CCC CCC - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 CCC CCC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd X 38145287 38145289 CCC - DEL RPGR ENST00000378505 human ensembl 69_37n -1 known in_frame_del c.2965_2963 p.G988in_frame_del 0.144:0.016:0.007 NULL pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors RPGR HGNC ENSG00000156313 22 0 0.00 8 4 30.77 - - - SERPINE1 0 genome.wustl.edu 37 7 100773701 100773701 + Splice_Site SNP G G C TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 100773701 100773701 G C SNP SERPINE1 ENST00000223095 human ensembl 69_37n +1 known splice_site c.272-1 e2-1 1.000 - - - no_errors SERPINE1 HGNC ENSG00000106366 33 0 0.00 2 10 83.33 - - - SERPINE1 0 genome.wustl.edu 37 7 100773701 100773701 + Splice_Site SNP G G C TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 100773701 100773701 G C SNP SERPINE1 ENST00000223095 human ensembl 69_37n +1 known splice_site c.272-1 e2-1 1.000 - - - no_errors SERPINE1 HGNC ENSG00000106366 33 0 0.00 22 6 21.43 - - - SERPINI1 0 genome.wustl.edu 37 3 167510536 167510537 + Frame_Shift_Ins INS - - T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 3 167510536 167510537 - T INS SERPINI1 ENST00000295777 human ensembl 69_37n +1 known frame_shift_ins c.640_641 p.P215fs 1.000:1.000 pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom pfam_Sepin_dom,superfamily_Sepin_dom,smart_Sepin_dom - no_errors SERPINI1 HGNC ENSG00000163536 58 0 0.00 31 4 11.43 - - - STRAP 0 genome.wustl.edu 37 12 16050834 16050834 + Silent SNP C C A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 12 16050834 16050834 C A SNP STRAP ENST00000025399 human ensembl 69_37n +1 known silent c.696 p.S232 0.380 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 36 0 0.00 26 23 46.94 - - - STRAP 0 genome.wustl.edu 37 12 16050834 16050834 + Silent SNP C C A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 12 16050834 16050834 C A SNP STRAP ENST00000025399 human ensembl 69_37n +1 known silent c.696 p.S232 0.380 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors STRAP HGNC ENSG00000023734 36 0 0.00 70 61 46.56 - - - STUB1 0 genome.wustl.edu 37 16 730615 730615 + Frame_Shift_Del DEL G G - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 16 730615 730615 G - DEL STUB1 ENST00000219548 human ensembl 69_37n +1 known frame_shift_del c.90 p.E31fs 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_Ubox_domain,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,smart_Ubox_domain,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors STUB1 HGNC ENSG00000103266 8 0 0.00 4 2 33.33 - - - TECPR2 0 genome.wustl.edu 37 14 102881035 102881035 + Frame_Shift_Del DEL C C - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 14 102881035 102881035 C - DEL TECPR2 ENST00000359520 human ensembl 69_37n +1 known frame_shift_del c.543 p.Q182fs 1.000 superfamily_WD40_repeat_dom pfam_Beta-propeller_rpt_TECPR,superfamily_WD40_repeat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,smart_WD40_repeat,smart_Beta-propeller_rpt_TECPR - no_errors TECPR2 HGNC ENSG00000196663 60 0 0.00 17 2 10.53 - - - TP53 0 genome.wustl.edu 37 17 7577097 7577097 + Missense_Mutation SNP C C A TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 17 7577097 7577097 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.841 p.D281Y 1.000 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 76 0 0.00 4 63 94.03 - - - TP53 0 genome.wustl.edu 37 17 7577097 7577097 + Missense_Mutation SNP C C A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 17 7577097 7577097 C A SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.841 p.D281Y 1.000 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 76 0 0.00 4 29 87.88 - - - TTC38 0 genome.wustl.edu 37 22 46668253 46668254 + Frame_Shift_Ins INS - - C TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 22 46668253 46668254 - C INS TTC38 ENST00000445282 human ensembl 69_37n +1 known frame_shift_ins c.133_134 p.K45fs 0.995:0.997 NULL NULL - no_errors TTC38 HGNC ENSG00000075234 51 0 0.00 16 2 11.11 - - - TTC7B 0 genome.wustl.edu 37 14 91007744 91007744 + Missense_Mutation SNP C C T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 14 91007744 91007744 C T SNP TTC7B ENST00000357056 human ensembl 69_37n -1 known missense c.2551 p.V851M 0.996 NULL pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TTC7B HGNC ENSG00000165914 28 0 0.00 1 12 92.31 - - - TYRP1 0 genome.wustl.edu 37 9 12702411 12702414 + Frame_Shift_Del DEL ACAA ACAA - TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 9 12702411 12702414 ACAA - DEL TYRP1 ENST00000388918 human ensembl 69_37n +1 known frame_shift_del c.1054_1057 p.N353fs 1.000:1.000:0.997:0.999 pfam_Tyrosinase,superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYRP1 HGNC ENSG00000107165 56 0 0.00 45 8 15.09 - - - YAE1D1 0 genome.wustl.edu 37 7 39612285 39612286 + Frame_Shift_Ins INS - - T TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 7 39612285 39612286 - T INS YAE1D1 ENST00000223273 human ensembl 69_37n +1 known frame_shift_ins c.661_662 p.Q221fs 0.976:0.989 NULL pfam_Essential_protein_Yae1_N - no_errors YAE1D1 HGNC ENSG00000241127 26 0 0.00 20 4 16.67 - - - ZCCHC8 0 genome.wustl.edu 37 12 122966110 122966110 + Missense_Mutation SNP G G T TCGA-AC-A2QH-01A-11D-A18P-09 TCGA-AC-A2QH-10A-01D-A18P-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e9fb918c-400f-4dbd-b5ec-30f716588172 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 12 122966110 122966110 G T SNP ZCCHC8 ENST00000336229 human ensembl 69_37n -1 known missense c.977 p.A326D 1.000 pfam_PSP,smart_PSP pfam_PSP,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_CCHC,smart_PSP,pfscan_Znf_CCHC - no_errors ZCCHC8 HGNC ENSG00000033030 52 0 0.00 36 4 10.00 - - - ZNF318 0 genome.wustl.edu 37 6 43316360 43316361 + Frame_Shift_Ins INS - - A TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 6 43316360 43316361 - A INS ZNF318 ENST00000361428 human ensembl 69_37n -1 known frame_shift_ins c.2774_2773 p.E925fs 1.000:1.000 NULL smart_Znf_U1 - no_errors ZNF318 HGNC ENSG00000171467 59 0 0.00 55 7 11.29 - - - ZNF702P 0 genome.wustl.edu 37 19 53489895 53489896 + RNA INS - - G TCGA-AC-A2QH-01B-04D-A22N-09 TCGA-AC-A2QH-10A-01D-A18P-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c738b558-9cc9-4756-bbe6-c8498008d6ad 5ecdd8b2-4577-471e-809e-c7d1f88bffcd 19 53489895 53489896 - G INS ZNF702P ENST00000270443 human ensembl 69_37n -1 known rna NULL NULL 0.456:0.462 - - - no_errors ZNF702P HGNC ENSG00000242779 11 0 0.00 4 2 33.33 - - -