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 ADAMTS9 0 genome.wustl.edu 37 3 64518862 64518862 + Missense_Mutation SNP A A G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 3 64518862 64518862 A G SNP ADAMTS9 ENST00000498707 human ensembl 69_37n -1 known missense c.5698 p.S1900P 1.000 pfam_Pept_M12B_GON-ADAMTSs,pfscan_Pept_M12B_GON-ADAMTSs pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B - no_errors ADAMTS9 HGNC ENSG00000163638 40 0 0.00 92 34 26.98 - - - AIMP1 0 genome.wustl.edu 37 4 107249280 107249280 + Missense_Mutation SNP A A G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 4 107249280 107249280 A G SNP AIMP1 ENST00000394701 human ensembl 69_37n +1 known missense c.343 p.M115V 0.000 NULL pfam_tRNA-bd_dom,superfamily_NA-bd_OB-fold-like,superfamily_t-SNARE,pfscan_tRNA-bd_dom - no_errors AIMP1 HGNC ENSG00000164022 69 0 0.00 108 49 31.21 - - - AMDHD2 0 genome.wustl.edu 37 16 2580551 2580551 + Missense_Mutation SNP T T A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 16 2580551 2580551 T A SNP AMDHD2 ENST00000413459 human ensembl 69_37n +1 known missense c.1576 p.W526R 0.019 NULL pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite - no_errors AMDHD2 HGNC ENSG00000162066 51 0 0.00 145 45 23.68 - - - AQP12B 0 genome.wustl.edu 37 2 241621869 241621869 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 2 241621869 241621869 G A SNP AQP12B ENST00000407834 human ensembl 69_37n -1 known missense c.386 p.T129M 0.017 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12 pfam_MIP,superfamily_Aquaporin-like,pirsf_Aquaporin_11/12,prints_Aquaporin_12,prints_MIP - no_errors AQP12B HGNC ENSG00000185176 11 0 0.00 3 13 81.25 - - - AQPEP 0 genome.wustl.edu 37 5 115329524 115329524 + Silent SNP T T A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 5 115329524 115329524 T A SNP AQPEP ENST00000357872 human ensembl 69_37n +1 known silent c.1347 p.I449 0.051 pfam_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors LVRN Clone_based_vega_gene ENSG00000172901 56 0 0.00 105 28 21.05 - - - BMP8B 0 genome.wustl.edu 37 1 40230633 40230633 + Missense_Mutation SNP T T A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 40230633 40230633 T A SNP BMP8B ENST00000397360 human ensembl 69_37n -1 known missense c.721 p.M241L 0.658 NULL pfam_TGF-b_N - no_errors BMP8B HGNC ENSG00000116985 8 0 0.00 3 4 57.14 - - - CACHD1 0 genome.wustl.edu 37 1 65157044 65157044 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 65157044 65157044 C T SNP CACHD1 ENST00000371073 human ensembl 69_37n +1 known missense c.3625 p.P1209S 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 41 0 0.00 62 29 31.87 - - - CACNA1S 0 genome.wustl.edu 37 1 201009077 201009077 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 201009077 201009077 C T SNP CACNA1S ENST00000362061 human ensembl 69_37n -1 known missense c.5504 p.G1835E 0.054 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu - no_errors CACNA1S HGNC ENSG00000081248 60 0 0.00 260 34 11.56 - - - CCDC80 0 genome.wustl.edu 37 3 112326098 112326098 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 3 112326098 112326098 G A SNP CCDC80 ENST00000206423 human ensembl 69_37n -1 known missense c.2431 p.R811C 1.000 NULL NULL - no_errors CCDC80 HGNC ENSG00000091986 58 0 0.00 58 22 27.50 - - - CDK5RAP1 0 genome.wustl.edu 37 20 31975264 31975264 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 20 31975264 31975264 G A SNP CDK5RAP1 ENST00000357886 human ensembl 69_37n -1 known missense c.620 p.A207V 1.000 tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase pfam_rSAM,pfam_Methylthiotransferase_N,pfam_TRAM_dom,smart_Elp3/MiaB/NifB,pfscan_TRAM_dom,tigrfam_MiaB_methiolase,tigrfam_Methylthiotransferase - no_errors CDK5RAP1 HGNC ENSG00000101391 16 0 0.00 40 11 21.57 - - - CEL 0 genome.wustl.edu 37 9 135944524 135944524 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 9 135944524 135944524 C T SNP CEL ENST00000372080 human ensembl 69_37n +1 known silent c.1173 p.T391 0.000 pfam_CarbesteraseB pfam_CarbesteraseB,pfam_AB_hydrolase_3 - no_errors CEL HGNC ENSG00000170835 12 0 0.00 21 9 30.00 - - - CEP152 0 genome.wustl.edu 37 15 49044602 49044602 + Missense_Mutation SNP G G T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 15 49044602 49044602 G T SNP CEP152 ENST00000380950 human ensembl 69_37n -1 known missense c.3410 p.P1137H 0.006 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 30 0 0.00 46 41 46.59 - - - CHGA 0 genome.wustl.edu 37 14 93397599 93397599 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 14 93397599 93397599 G A SNP CHGA ENST00000216492 human ensembl 69_37n +1 known silent c.360 p.A120 0.000 pfam_Granin pfam_Granin,prints_Chromogranin_AB - no_errors CHGA HGNC ENSG00000100604 19 0 0.00 31 11 26.19 - - - CHRM3 0 genome.wustl.edu 37 1 240071786 240071786 + Silent SNP C C A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 240071786 240071786 C A SNP CHRM3 ENST00000255380 human ensembl 69_37n +1 known silent c.1035 p.S345 0.982 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_supfam,prints_Musac_M3_rcpt,prints_Musac_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors CHRM3 HGNC ENSG00000133019 10 0 0.00 28 9 24.32 - - - CNTNAP1 0 genome.wustl.edu 37 17 40837254 40837254 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 17 40837254 40837254 C T SNP CNTNAP1 ENST00000264638 human ensembl 69_37n +1 known silent c.531 p.F177 0.992 superfamily_ConA-like_lec_gl,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP1 HGNC ENSG00000108797 26 0 0.00 20 15 41.67 - - - COL1A2 0 genome.wustl.edu 37 7 94034183 94034183 + Silent SNP T T A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 7 94034183 94034183 T A SNP COL1A2 ENST00000297268 human ensembl 69_37n +1 known silent c.411 p.P137 1.000 pfam_Collagen pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C - no_errors COL1A2 HGNC ENSG00000164692 47 0 0.00 41 28 40.58 - - - DISC1 0 genome.wustl.edu 37 1 231885724 231885724 + Silent SNP G G T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 231885724 231885724 G T SNP DISC1 ENST00000439617 human ensembl 69_37n +1 known silent c.1170 p.L390 0.869 NULL superfamily_Prefoldin - no_errors DISC1 HGNC ENSG00000162946 52 0 0.00 131 29 18.12 - - - DPEP3 0 genome.wustl.edu 37 16 68011676 68011676 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 16 68011676 68011676 C T SNP DPEP3 ENST00000268793 human ensembl 69_37n -1 known silent c.888 p.S296 0.000 pfam_Peptidase_M19 pfam_Peptidase_M19 - no_errors DPEP3 HGNC ENSG00000141096 31 0 0.00 84 19 18.10 - - - DUOX1 0 genome.wustl.edu 37 15 45448061 45448061 + Missense_Mutation SNP C C A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 15 45448061 45448061 C A SNP DUOX1 ENST00000321429 human ensembl 69_37n +1 known missense c.3636 p.H1212Q 1.000 pfam_Fe3_Rdtase_TM_dom pfam_Haem_peroxidase_animal,pfam_Fe_red_NAD-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF-hand,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_Ca-bd,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_HAND_2,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 78 0 0.00 186 66 26.19 - - - FAM71D 0 genome.wustl.edu 37 14 67671595 67671595 + Missense_Mutation SNP T T G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 14 67671595 67671595 T G SNP FAM71D ENST00000311864 human ensembl 69_37n +1 known missense c.701 p.F234C 1.000 NULL pfam_DUF3699 - no_errors FAM71D HGNC ENSG00000172717 32 0 0.00 53 10 15.62 - - - FCGBP 0 genome.wustl.edu 37 19 40383905 40383905 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 19 40383905 40383905 G A SNP FCGBP ENST00000221347 human ensembl 69_37n -1 known silent c.9705 p.C3235 0.488 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 12 0 0.00 19 14 42.42 - - - GLI2 0 genome.wustl.edu 37 2 121729565 121729565 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 2 121729565 121729565 G A SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known missense c.1108 p.A370T 0.303 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 18 0 0.00 35 17 32.08 - - - HECTD1 0 genome.wustl.edu 37 14 31605749 31605749 + Nonsense_Mutation SNP G G C TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 14 31605749 31605749 G C SNP HECTD1 ENST00000399332 human ensembl 69_37n -1 known nonsense c.3102 p.Y1034* 1.000 NULL pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT - no_errors HECTD1 HGNC ENSG00000092148 75 0 0.00 155 40 20.51 - - - HUWE1 0 genome.wustl.edu 37 X 53652126 53652126 + Missense_Mutation SNP A A G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c X 53652126 53652126 A G SNP HUWE1 ENST00000262854 human ensembl 69_37n -1 known missense c.1583 p.I528T 1.000 pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom - no_errors HUWE1 HGNC ENSG00000086758 62 0 0.00 149 31 17.22 - - - IGLV3-22 0 genome.wustl.edu 37 22 23047214 23047214 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 22 23047214 23047214 C T SNP IGLV3-22 ENST00000390307 human ensembl 69_37n +1 known silent c.252 p.T84 0.983 pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGLV3-22 HGNC ENSG00000211661 19 0 0.00 23 12 34.29 - - - JAK3 0 genome.wustl.edu 37 19 17937697 17937697 + Missense_Mutation SNP C C A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 19 17937697 17937697 C A SNP JAK3 ENST00000458235 human ensembl 69_37n -1 known missense c.3230 p.C1077F 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Tyr_kinase_non-rcpt_Jak3,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom - no_errors JAK3 HGNC ENSG00000105639 22 0 0.00 32 8 20.00 - - - KIAA1109 0 genome.wustl.edu 37 4 123111228 123111228 + Nonsense_Mutation SNP G G T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 4 123111228 123111228 G T SNP KIAA1109 ENST00000264501 human ensembl 69_37n +1 known nonsense c.895 p.E299* 1.000 NULL pfam_Fragile_site-assoc_C - no_errors KIAA1109 HGNC ENSG00000138688 74 0 0.00 135 40 22.73 - - - KRT6B 0 genome.wustl.edu 37 12 52844400 52844400 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 12 52844400 52844400 C T SNP KRT6B ENST00000252252 human ensembl 69_37n -1 known missense c.545 p.R182Q 0.986 pfam_F pfam_F,superfamily_Prefoldin,prints_Keratin_II - no_errors KRT6B HGNC ENSG00000185479 68 0 0.00 160 64 28.57 - - - KRTAP6-3 0 genome.wustl.edu 37 21 31965011 31965011 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 21 31965011 31965011 G A SNP KRTAP6-3 ENST00000391624 human ensembl 69_37n +1 known missense c.226 p.G76S 1.000 NULL NULL - no_errors KRTAP6-3 HGNC ENSG00000212938 155 0 0.00 185 65 25.90 - - - LDB3 0 genome.wustl.edu 37 10 88476372 88476372 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 10 88476372 88476372 C T SNP LDB3 ENST00000429277 human ensembl 69_37n +1 known missense c.1535 p.T512I 0.996 NULL pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors LDB3 HGNC ENSG00000122367 17 0 0.00 59 15 19.74 - - - MEGF8 0 genome.wustl.edu 37 19 42855839 42855839 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 19 42855839 42855839 C T SNP MEGF8 ENST00000251268 human ensembl 69_37n +1 known silent c.3027 p.F1009 0.993 pfam_Plexin_repeat,superfamily_Plexin-like_fold,smart_Plexin-like pfam_CUB,pfam_EGF_laminin,pfam_Plexin_repeat,superfamily_Gal_Oxase/kelch_b-propeller,superfamily_CUB,superfamily_Plexin-like_fold,smart_CUB,smart_EGF-like,smart_Plexin-like,smart_EGF-like_Ca-bd,smart_EGF_laminin,pfscan_CUB,pfscan_EG-like_dom,pfscan_EGF_laminin - no_errors MEGF8 HGNC ENSG00000105429 15 0 0.00 23 21 47.73 - - - MRC2 0 genome.wustl.edu 37 17 60768334 60768334 + Missense_Mutation SNP A A G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 17 60768334 60768334 A G SNP MRC2 ENST00000303375 human ensembl 69_37n +1 known missense c.4037 p.N1346S 1.000 pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,prints_AntifreezeII,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin - no_errors MRC2 HGNC ENSG00000011028 20 0 0.00 55 9 14.06 - - - MUC17 0 genome.wustl.edu 37 7 100684336 100684336 + Silent SNP A A G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 7 100684336 100684336 A G SNP MUC17 ENST00000306151 human ensembl 69_37n +1 known silent c.9639 p.P3213 0.493 NULL pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA - no_errors MUC17 HGNC ENSG00000169876 150 0 0.00 141 76 35.02 - - - MYO5A 0 genome.wustl.edu 37 15 52643662 52643662 + Nonsense_Mutation SNP G G T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 15 52643662 52643662 G T SNP MYO5A ENST00000358212 human ensembl 69_37n -1 known nonsense c.3638 p.S1213* 1.000 NULL pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO5A HGNC ENSG00000197535 95 0 0.00 181 53 22.65 - - - NCKAP1 0 genome.wustl.edu 37 2 183847589 183847589 + Missense_Mutation SNP C C A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 2 183847589 183847589 C A SNP NCKAP1 ENST00000360982 human ensembl 69_37n -1 known missense c.1186 p.D396Y 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1 - no_errors NCKAP1 HGNC ENSG00000061676 53 0 0.00 95 27 22.13 - - - NIPAL1 0 genome.wustl.edu 37 4 48038079 48038079 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 4 48038079 48038079 G A SNP NIPAL1 ENST00000295461 human ensembl 69_37n +1 known missense c.1123 p.A375T 0.003 NULL pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 46 0 0.00 56 27 32.53 - - - NR1D2 0 genome.wustl.edu 37 3 24003871 24003871 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 3 24003871 24003871 C T SNP NR1D2 ENST00000312521 human ensembl 69_37n +1 known silent c.921 p.S307 1.000 NULL pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt - no_errors NR1D2 HGNC ENSG00000174738 47 0 0.00 70 25 26.04 - - - NUDCD1 0 genome.wustl.edu 37 8 110287602 110287602 + Missense_Mutation SNP C C G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 8 110287602 110287602 C G SNP NUDCD1 ENST00000239690 human ensembl 69_37n -1 known missense c.1152 p.M384I 1.000 NULL pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain - no_errors NUDCD1 HGNC ENSG00000120526 65 0 0.00 261 119 31.32 - - - ODF3L2 0 genome.wustl.edu 37 19 463919 463919 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 19 463919 463919 C T SNP ODF3L2 ENST00000315489 human ensembl 69_37n -1 known silent c.795 p.S265 0.002 NULL pfam_SHIPPO-rpt - no_errors ODF3L2 HGNC ENSG00000181781 22 0 0.00 15 17 53.12 - - - OR1A1 0 genome.wustl.edu 37 17 3119269 3119269 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 17 3119269 3119269 G A SNP OR1A1 ENST00000304094 human ensembl 69_37n +1 known missense c.355 p.A119T 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam - no_errors OR1A1 HGNC ENSG00000172146 93 0 0.00 95 43 31.16 - - - OR2G2 0 genome.wustl.edu 37 1 247752384 247752384 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 247752384 247752384 C T SNP OR2G2 ENST00000320065 human ensembl 69_37n +1 known silent c.723 p.F241 0.000 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 OR2G2 HGNC ENSG00000177489 69 0 0.00 158 20 11.24 - - - PAK7 0 genome.wustl.edu 37 20 9561437 9561437 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 20 9561437 9561437 G A SNP PAK7 ENST00000353224 human ensembl 69_37n -1 known silent c.345 p.H115 0.016 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PAK_box_Rho-bd,superfamily_Kinase-like_dom,smart_PAK_box_Rho-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_PAK_box_Rho-bd,pfscan_Prot_kinase_cat_dom - no_errors PAK7 HGNC ENSG00000101349 59 0 0.00 101 33 24.63 - - - PCNXL4 0 genome.wustl.edu 37 14 60591901 60591901 + Silent SNP T T G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 14 60591901 60591901 T G SNP PCNXL4 ENST00000404681 human ensembl 69_37n +1 known silent c.3012 p.P1004 0.938 pfam_Pecanex pfam_Pecanex - no_errors PCNXL4 HGNC ENSG00000126773 62 0 0.00 63 18 21.95 - - - PIGA 0 genome.wustl.edu 37 X 15349901 15349901 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c X 15349901 15349901 C T SNP PIGA ENST00000333590 human ensembl 69_37n -1 known missense c.152 p.S51N 1.000 NULL pfam_PIGA_GPI_anchor_biosynthesis,pfam_Glyco_trans_1 - no_errors PIGA HGNC ENSG00000165195 46 0 0.00 88 60 40.54 - - - PLIN4 0 genome.wustl.edu 37 19 4511750 4511750 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 19 4511750 4511750 G A SNP PLIN4 ENST00000301286 human ensembl 69_37n -1 novel missense c.2180 p.A727V 0.000 NULL pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom - no_errors PLIN4 HGNC ENSG00000167676 95 0 0.00 177 29 14.08 - - - POLR2B 0 genome.wustl.edu 37 4 57876368 57876368 + Splice_Site SNP T T G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 4 57876368 57876368 T G SNP POLR2B ENST00000510355 human ensembl 69_37n +1 known splice_site c.NULL NULL 0.001 - - - no_errors POLR2B HGNC ENSG00000047315 12 0 0.00 4 14 77.78 - - - PREX2 0 genome.wustl.edu 37 8 69011939 69011939 + Missense_Mutation SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 8 69011939 69011939 G A SNP PREX2 ENST00000288368 human ensembl 69_37n +1 known missense c.2576 p.S859N 1.000 NULL pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PREX2 HGNC ENSG00000046889 66 0 0.00 198 38 16.10 - - - RFX1 0 genome.wustl.edu 37 19 14076542 14076542 + Missense_Mutation SNP A A C TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 19 14076542 14076542 A C SNP RFX1 ENST00000254325 human ensembl 69_37n -1 known missense c.2009 p.L670R 1.000 NULL pfam_RFX1_trans_act,pfam_DNA-bd_RFX - no_errors RFX1 HGNC ENSG00000132005 29 0 0.00 57 23 28.75 - - - SART1 0 genome.wustl.edu 37 11 65744012 65744012 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 11 65744012 65744012 C T SNP SART1 ENST00000312397 human ensembl 69_37n +1 known silent c.1719 p.G573 0.999 pfam_SART_1 pfam_SART_1 - no_errors SART1 HGNC ENSG00000175467 14 0 0.00 33 20 37.04 - - - SCN4A 0 genome.wustl.edu 37 17 62049998 62049998 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 17 62049998 62049998 G A SNP SCN4A ENST00000435607 human ensembl 69_37n -1 known silent c.204 p.Y68 0.430 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN4A HGNC ENSG00000007314 42 0 0.00 204 50 19.69 - - - SEMA3D 0 genome.wustl.edu 37 7 84670042 84670042 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 7 84670042 84670042 G A SNP SEMA3D ENST00000284136 human ensembl 69_37n -1 known silent c.993 p.L331 0.959 pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag pfam_Semaphorin/CD100_Ag,pfam_Ig_V-set,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA3D HGNC ENSG00000153993 66 0 0.00 67 12 15.00 - - - SIGLEC1 0 genome.wustl.edu 37 20 3687268 3687268 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 20 3687268 3687268 G A SNP SIGLEC1 ENST00000344754 human ensembl 69_37n -1 known silent c.135 p.F45 0.987 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC1 HGNC ENSG00000088827 11 0 0.00 41 10 19.23 - - - SLC2A7 0 genome.wustl.edu 37 1 9079361 9079361 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 9079361 9079361 C T SNP SLC2A7 ENST00000400906 human ensembl 69_37n -1 known missense c.343 p.A115T 0.937 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,prints_Sugar/inositol_transpt,pfscan_MFS_dom,tigrfam_Sugar/inositol_transpt - no_errors SLC2A7 HGNC ENSG00000197241 29 0 0.00 33 19 36.54 - - - SLC39A2 0 genome.wustl.edu 37 14 21467657 21467660 + Frame_Shift_Del DEL CTCA CTCA - TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 CTCA CTCA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 14 21467657 21467660 CTCA - DEL SLC39A2 ENST00000298681 human ensembl 69_37n +1 known frame_shift_del c.52_55 p.T19fs 0.113:0.990:0.996:1.000 pfam_ZIP pfam_ZIP - no_errors SLC39A2 HGNC ENSG00000165794 76 0 0.00 183 46 19.91 - - - SLC45A2 0 genome.wustl.edu 37 5 33963829 33963829 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 5 33963829 33963829 C T SNP SLC45A2 ENST00000296589 human ensembl 69_37n -1 known missense c.855 p.M285I 0.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt pfam_MFS,superfamily_MFS_dom_general_subst_transpt - no_errors SLC45A2 HGNC ENSG00000164175 75 0 0.00 198 53 21.12 - - - SLC6A1 0 genome.wustl.edu 37 3 11064046 11064046 + Silent SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 3 11064046 11064046 C T SNP SLC6A1 ENST00000287766 human ensembl 69_37n +1 known silent c.606 p.D202 0.980 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1 pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_GABA_GAT1 - no_errors SLC6A1 HGNC ENSG00000157103 50 0 0.00 105 21 16.67 - - - SRGAP2 0 genome.wustl.edu 37 1 206611342 206611342 + Nonsense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 206611342 206611342 C T SNP SRGAP2 ENST00000295713 human ensembl 69_37n +1 known nonsense c.1402 p.R468* 0.995 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_RhoGAP_dom,smart_SH3_domain,pfscan_SH3_domain,pfscan_RhoGAP_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region SRGAP2 HGNC ENSG00000163486 57 0 0.00 19 64 77.11 - - - SYNE2 0 genome.wustl.edu 37 14 64608223 64608223 + Missense_Mutation SNP T T G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 14 64608223 64608223 T G SNP SYNE2 ENST00000358025 human ensembl 69_37n +1 known missense c.15141 p.I5047M 0.993 smart_Spectrin/alpha-actinin pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH - no_errors SYNE2 HGNC ENSG00000054654 34 0 0.00 85 31 26.72 - - - TBC1D21 0 genome.wustl.edu 37 15 74177166 74177166 + Missense_Mutation SNP G G T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 15 74177166 74177166 G T SNP TBC1D21 ENST00000300504 human ensembl 69_37n +1 known missense c.412 p.V138F 0.458 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D21 HGNC ENSG00000167139 21 0 0.00 54 22 28.57 - - - TBC1D8B 0 genome.wustl.edu 37 X 106096864 106096864 + Missense_Mutation SNP T T C TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c X 106096864 106096864 T C SNP TBC1D8B ENST00000357242 human ensembl 69_37n +1 known missense c.2237 p.I746T 1.000 superfamily_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D8B HGNC ENSG00000133138 61 0 0.00 108 23 17.56 - - - TDRD6 0 genome.wustl.edu 37 6 46660616 46660616 + Missense_Mutation SNP A A T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 6 46660616 46660616 A T SNP TDRD6 ENST00000316081 human ensembl 69_37n +1 known missense c.4751 p.Y1584F 0.997 pfam_Tudor,smart_Tudor,pfscan_Tudor pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 97 0 0.00 163 37 18.50 - - - TESC 0 genome.wustl.edu 37 12 117494644 117494644 + Missense_Mutation SNP C C T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 12 117494644 117494644 C T SNP TESC ENST00000392545 human ensembl 69_37n -1 known missense c.335 p.R112Q 0.999 NULL smart_EF_hand_Ca-bd,pfscan_EF_HAND_2 - no_errors TESC HGNC ENSG00000088992 69 0 0.00 173 29 14.36 - - - TLR4 0 genome.wustl.edu 37 9 120474689 120474689 + Missense_Mutation SNP G G T TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 9 120474689 120474689 G T SNP TLR4 ENST00000355622 human ensembl 69_37n +1 known missense c.283 p.D95Y 1.000 pirsf_Toll-like_receptor,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR4 HGNC ENSG00000136869 29 0 0.00 32 7 17.95 - - - TNKS1BP1 0 genome.wustl.edu 37 11 57080520 57080520 + Missense_Mutation SNP G G C TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 11 57080520 57080520 G C SNP TNKS1BP1 ENST00000358252 human ensembl 69_37n -1 known missense c.1642 p.P548A 0.000 NULL NULL - no_errors TNKS1BP1 HGNC ENSG00000149115 12 0 0.00 17 5 22.73 - - - TTN 0 genome.wustl.edu 37 2 179632645 179632645 + Missense_Mutation SNP C C G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 2 179632645 179632645 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.9312 p.K3104N 0.931 pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 48 0 0.00 74 22 22.92 - - - USH1C 0 genome.wustl.edu 37 11 17545007 17545007 + Nonsense_Mutation SNP C C A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 11 17545007 17545007 C A SNP USH1C ENST00000005226 human ensembl 69_37n -1 known nonsense c.778 p.E260* 1.000 pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors USH1C HGNC ENSG00000006611 48 0 0.00 192 34 15.04 - - - WBP5 0 genome.wustl.edu 37 X 102612872 102612872 + Missense_Mutation SNP T T G TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c X 102612872 102612872 T G SNP WBP5 ENST00000372656 human ensembl 69_37n +1 known missense c.260 p.L87R 0.996 pfam_TF_A-like/BEX-like pfam_TF_A-like/BEX-like - no_errors WBP5 HGNC ENSG00000185222 51 0 0.00 103 27 20.77 - - - ZNF251 0 genome.wustl.edu 37 8 145947416 145947416 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 8 145947416 145947416 G A SNP ZNF251 ENST00000292562 human ensembl 69_37n -1 known silent c.1629 p.H543 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF251 HGNC ENSG00000198169 32 0 0.00 106 17 13.82 - - - ZNF507 0 genome.wustl.edu 37 19 32845865 32845865 + Splice_Site SNP T T C TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 19 32845865 32845865 T C SNP ZNF507 ENST00000311921 human ensembl 69_37n +1 known splice_site c.2127+2 e1+2 1.000 - - - no_errors ZNF507 HGNC ENSG00000168813 31 0 0.00 42 22 34.38 - - - ZNF648 0 genome.wustl.edu 37 1 182025787 182025787 + Silent SNP G G A TCGA-A2-A1FW-01A-11D-A13L-09 TCGA-A2-A1FW-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6ccdb42e-1ad1-4175-b83a-a24b019dc640 c2563fdc-a603-4974-a849-a938ca683f7c 1 182025787 182025787 G A SNP ZNF648 ENST00000339948 human ensembl 69_37n -1 known silent c.1359 p.C453 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF648 HGNC ENSG00000179930 19 0 0.00 37 10 21.28 - - -