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 AMPD1 0 genome.wustl.edu 37 1 115220952 115220952 + Splice_Site SNP A A G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 1 115220952 115220952 A G SNP AMPD1 ENST00000520113 human ensembl 69_37n -1 known splice_site c.1191+2 e8+2 1.000 - - - no_errors AMPD1 HGNC ENSG00000116748 317 0 0 92 50 35.21 - - - ANKRD12 0 genome.wustl.edu 37 18 9195691 9195691 + Missense_Mutation SNP A A G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 18 9195691 9195691 A G SNP ANKRD12 ENST00000262126 human ensembl 69_37n +1 known missense c.230 p.D77G 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD12 HGNC ENSG00000101745 186 0 0.00 26 14 35.00 - - - ATP11A 0 genome.wustl.edu 37 13 113439503 113439503 + Nonsense_Mutation SNP G G T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 13 113439503 113439503 G T SNP ATP11A ENST00000375630 human ensembl 69_37n +1 known nonsense c.94 p.E32* 1.000 NULL pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP11A HGNC ENSG00000068650 71 0 0.00 25 20 44.44 - - - C1orf173 0 genome.wustl.edu 37 1 75055760 75055761 + Frame_Shift_Ins INS - - AA TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 1 75055760 75055761 - AA INS C1orf173 ENST00000326665 human ensembl 69_37n -1 known frame_shift_ins c.1731_1730 p.M577fs 0.048:0.017 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 81 0 0.00 19 3 13.64 - - - C9orf171 0 genome.wustl.edu 37 9 135374976 135374976 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 9 135374976 135374976 G A SNP C9orf171 ENST00000343036 human ensembl 69_37n +1 known silent c.621 p.G207 0.983 NULL NULL - no_errors C9orf171 HGNC ENSG00000188523 26 0 0.00 29 19 39.58 - - - CA4 0 genome.wustl.edu 37 17 58234014 58234014 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 17 58234014 58234014 G A SNP CA4 ENST00000300900 human ensembl 69_37n +1 known missense c.206 p.R69H 0.000 pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a pfam_Carbonic_anhydrase_a,superfamily_Carbonic_anhydrase_a,pfscan_Carbonic_anhydrase_a - no_errors CA4 HGNC ENSG00000167434 84 0 0.00 100 20 16.67 - - - CDS2 0 genome.wustl.edu 37 20 5157348 5157348 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 20 5157348 5157348 G A SNP CDS2 ENST00000460006 human ensembl 69_37n +1 known missense c.346 p.V116I 1.000 pfam_PC_trans,pirsf_PC_Trfase_euk pfam_PC_trans,pirsf_PC_Trfase_euk - no_errors CDS2 HGNC ENSG00000101290 252 0 0.00 190 95 33.33 - - - CEP290 0 genome.wustl.edu 37 12 88442981 88442981 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 12 88442981 88442981 C T SNP CEP290 ENST00000309041 human ensembl 69_37n -1 known missense c.7426 p.V2476I 0.001 NULL NULL - no_errors CEP290 HGNC ENSG00000198707 230 0 0.00 30 15 33.33 - - - CFHR5 0 genome.wustl.edu 37 1 196967316 196967316 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 1 196967316 196967316 G A SNP CFHR5 ENST00000367414 human ensembl 69_37n +1 known silent c.1101 p.K367 0.000 superfamily_Complement_control_module,smart_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFHR5 HGNC ENSG00000134389 204 0 0.00 97 16 14.16 - - - CLDN6 0 genome.wustl.edu 37 16 3065517 3065517 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 16 3065517 3065517 G A SNP CLDN6 ENST00000328796 human ensembl 69_37n -1 known missense c.506 p.A169V 0.994 pfam_PMP22/EMP/MP20/Claudin,prints_Claudin pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin6 - no_errors CLDN6 HGNC ENSG00000184697 11 0 0.00 14 6 30.00 - - - CNGA1 0 genome.wustl.edu 37 4 47938686 47938686 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 4 47938686 47938686 G A SNP CNGA1 ENST00000402813 human ensembl 69_37n -1 known silent c.2032 p.L678 0.246 NULL pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA1 HGNC ENSG00000198515 110 0 0.00 31 14 31.11 - - - COL19A1 0 genome.wustl.edu 37 6 70840095 70840095 + Nonsense_Mutation SNP G G T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 6 70840095 70840095 G T SNP COL19A1 ENST00000322773 human ensembl 69_37n +1 known nonsense c.1363 p.G455* 0.000 NULL pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G - no_errors COL19A1 HGNC ENSG00000082293 301 2 0.66 191 66 25.68 - - - COL22A1 0 genome.wustl.edu 37 8 139697498 139697498 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 8 139697498 139697498 C T SNP COL22A1 ENST00000303045 human ensembl 69_37n -1 known missense c.2920 p.A974T 0.002 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 47 0 0.00 32 23 41.82 - - - CSMD1 0 genome.wustl.edu 37 8 3015484 3015484 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 8 3015484 3015484 C T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.5852 p.R1951H 0.863 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 61 0 0.00 32 16 33.33 - - - DGKD 0 genome.wustl.edu 37 2 234357797 234357797 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 2 234357797 234357797 G A SNP DGKD ENST00000264057 human ensembl 69_37n +1 known missense c.1663 p.D555N 0.990 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,pfam_Pleckstrin_homology,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKD HGNC ENSG00000077044 97 0 0.00 66 21 24.14 - - - DGKG 0 genome.wustl.edu 37 3 185969589 185969589 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 3 185969589 185969589 C T SNP DGKG ENST00000265022 human ensembl 69_37n -1 known missense c.1720 p.V574I 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKG HGNC ENSG00000058866 137 0 0.00 57 113 66.08 - - - EIF2C2 0 genome.wustl.edu 37 8 141549439 141549439 + Missense_Mutation SNP A A T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 8 141549439 141549439 A T SNP EIF2C2 ENST00000220592 human ensembl 69_37n -1 known missense c.2149 p.C717S 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C2 HGNC ENSG00000123908 48 0 0.00 54 20 27.03 - - - EPS8 0 genome.wustl.edu 37 12 15800121 15800121 + Missense_Mutation SNP T T C TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 12 15800121 15800121 T C SNP EPS8 ENST00000281172 human ensembl 69_37n -1 known missense c.1508 p.H503R 0.039 NULL pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain - no_errors EPS8 HGNC ENSG00000151491 131 0 0.00 69 19 21.35 - - - F7 0 genome.wustl.edu 37 13 113771834 113771834 + Silent SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 13 113771834 113771834 C T SNP F7 ENST00000375581 human ensembl 69_37n +1 known silent c.729 p.I243 0.000 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,pfscan_Peptidase_S1_S6 pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors F7 HGNC ENSG00000057593 102 0 0.00 58 22 27.50 - - - FLRT2 0 genome.wustl.edu 37 14 86089263 86089263 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 14 86089263 86089263 C T SNP FLRT2 ENST00000330753 human ensembl 69_37n +1 known missense c.1405 p.R469C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3 - no_errors FLRT2 HGNC ENSG00000185070 66 0 0.00 27 17 38.64 - - - GPR17 0 genome.wustl.edu 37 2 128409054 128409054 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 2 128409054 128409054 G A SNP GPR17 ENST00000272644 human ensembl 69_37n +1 known missense c.829 p.V277M 1.000 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn,prints_P2_purnocptor,prints_Protea_act_rcpt - no_errors GPR17 HGNC ENSG00000144230 20 0 0.00 18 10 35.71 - - - GPR64 0 genome.wustl.edu 37 X 19017274 19017274 + Missense_Mutation SNP C C A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d X 19017274 19017274 C A SNP GPR64 ENST00000379869 human ensembl 69_37n -1 known missense c.2454 p.K818N 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR64 HGNC ENSG00000173698 239 0 0.00 116 66 36.07 - - - IPPK 0 genome.wustl.edu 37 9 95378177 95378177 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 9 95378177 95378177 G A SNP IPPK ENST00000287996 human ensembl 69_37n -1 known silent c.1413 p.N471 0.000 NULL pfam_Ins_P5_2-kin - no_errors IPPK HGNC ENSG00000127080 208 0 0.00 184 43 18.94 - - - IQSEC1 0 genome.wustl.edu 37 3 12977013 12977013 + Missense_Mutation SNP C C A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 3 12977013 12977013 C A SNP IQSEC1 ENST00000450726 human ensembl 69_37n -1 known missense c.1546 p.A516S 0.511 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region IQSEC1 HGNC ENSG00000144711 58 0 0.00 19 45 62.50 - - - ITGAD 0 genome.wustl.edu 37 16 31424209 31424209 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 16 31424209 31424209 G A SNP ITGAD ENST00000389202 human ensembl 69_37n +1 known silent c.1758 p.A586 0.094 smart_Int_alpha_beta-p,prints_Integrin_alpha pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 53 0 0.00 23 18 43.90 - - - KCNB1 0 genome.wustl.edu 37 20 47989776 47989776 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 20 47989776 47989776 G A SNP KCNB1 ENST00000371741 human ensembl 69_37n -1 known missense c.2321 p.P774L 1.000 NULL pfam_K_chnl_volt-dep_Kv2,pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv2.1,prints_K_chnl_volt-dep_Kv2,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv8 - no_errors KCNB1 HGNC ENSG00000158445 184 0 0.00 175 55 23.91 - - - KCNH4 0 genome.wustl.edu 37 17 40322182 40322182 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 17 40322182 40322182 C T SNP KCNH4 ENST00000264661 human ensembl 69_37n -1 known missense c.1333 p.V445M 1.000 pfam_Ion_trans_dom,pfam_Ion_trans_2 pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold_3,pfam_PAS_fold,pfam_PAS_4,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ELK,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH4 HGNC ENSG00000089558 11 0 0.00 9 11 55.00 - - - KRTAP20-3 0 genome.wustl.edu 37 21 32015215 32015215 + Missense_Mutation SNP A A G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 21 32015215 32015215 A G SNP KRTAP20-3 ENST00000382826 human ensembl 69_37n +1 novel missense c.8 p.Y3C 0.000 pfam_KRTAP pfam_KRTAP - no_errors KRTAP20-3 HGNC ENSG00000206104 270 0 0.00 108 34 23.94 - - - MAEL 0 genome.wustl.edu 37 1 166990949 166990949 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 1 166990949 166990949 G A SNP MAEL ENST00000367872 human ensembl 69_37n +1 known missense c.1162 p.V388I 1.000 NULL pfam_HMG_superfamily,superfamily_HMG_superfamily,superfamily_CH-domain - no_errors MAEL HGNC ENSG00000143194 240 0 0.00 37 15 28.85 - - - MAGEC2 0 genome.wustl.edu 37 X 141290906 141290906 + Missense_Mutation SNP G G C TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d X 141290906 141290906 G C SNP MAGEC2 ENST00000247452 human ensembl 69_37n -1 known missense c.868 p.P290A 0.004 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEC2 HGNC ENSG00000046774 96 0 0.00 52 37 41.57 - - - MAP1LC3C 0 genome.wustl.edu 37 1 242159611 242159611 + Missense_Mutation SNP T T A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 1 242159611 242159611 T A SNP MAP1LC3C ENST00000357246 human ensembl 69_37n -1 known missense c.298 p.T100S 1.000 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 pfam_Atg8_ubiquitin-like,pfam_Autophagy-rel_prot_12 - no_errors MAP1LC3C HGNC ENSG00000197769 113 0 0.00 136 36 20.93 - - - MRPL15 0 genome.wustl.edu 37 8 55060178 55060178 + Missense_Mutation SNP C C G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 8 55060178 55060178 C G SNP MRPL15 ENST00000260102 human ensembl 69_37n +1 known missense c.790 p.Q264E 1.000 NULL pfam_Ribosomal_L18e/L15P,superfamily_Ribosomal_L18e/L15P - no_errors MRPL15 HGNC ENSG00000137547 203 0 0.00 149 37 19.89 - - - NAT10 0 genome.wustl.edu 37 11 34160944 34160944 + Missense_Mutation SNP G G T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 11 34160944 34160944 G T SNP NAT10 ENST00000257829 human ensembl 69_37n +1 known missense c.2321 p.R774L 1.000 NULL pfam_Helicase_dom,pfam_DUF1726,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom - no_errors NAT10 HGNC ENSG00000135372 89 0 0.00 39 50 56.18 - - - NIN 0 genome.wustl.edu 37 14 51237255 51237255 + Nonsense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 14 51237255 51237255 G A SNP NIN ENST00000245441 human ensembl 69_37n -1 known nonsense c.1285 p.R429* 0.934 NULL superfamily_tRNA-bd_arm,pfscan_EF_HAND_2 - no_errors NIN HGNC ENSG00000100503 299 0 0.00 231 54 18.88 - - - NLRP9 0 genome.wustl.edu 37 19 56243838 56243838 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 19 56243838 56243838 G A SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known silent c.1359 p.A453 0.808 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 67 0 0.00 38 20 34.48 - - - NPR2 0 genome.wustl.edu 37 9 35792632 35792632 + Missense_Mutation SNP C C G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 9 35792632 35792632 C G SNP NPR2 ENST00000342694 human ensembl 69_37n +1 known missense c.227 p.S76C 1.000 pfam_ANF_lig-bd_rcpt pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_A/G_cyclase,prints_Ntpep_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase - no_errors NPR2 HGNC ENSG00000159899 11 0 0.00 12 6 33.33 - - - NRXN3 0 genome.wustl.edu 37 14 80328161 80328161 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 14 80328161 80328161 G A SNP NRXN3 ENST00000335750 human ensembl 69_37n +1 known missense c.3040 p.D1014N 1.000 smart_Neurexin-like pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 45 0 0.00 22 13 37.14 - - - OGG1 0 genome.wustl.edu 37 3 9792081 9792081 + Missense_Mutation SNP G G C TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 3 9792081 9792081 G C SNP OGG1 ENST00000429146 human ensembl 69_37n +1 known missense c.43 p.G15R 1.000 pfam_OGG_N pfam_OGG_N,pfam_HhH-GPD_domain,superfamily_DNA_glycosylase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region OGG1 HGNC ENSG00000114026 32 0 0.00 34 9 20.93 - - - OTX2 0 genome.wustl.edu 37 14 57269058 57269058 + Nonsense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 14 57269058 57269058 G A SNP OTX2 ENST00000339475 human ensembl 69_37n -1 known nonsense c.289 p.R97* 1.000 pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain pfam_Otx_TF_C,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,prints_Otx2_TF,prints_Otx_TF,pfscan_Homeodomain - no_errors OTX2 HGNC ENSG00000165588 128 0 0.00 59 52 46.85 - - - OXR1 0 genome.wustl.edu 37 8 107696538 107696538 + Missense_Mutation SNP T T G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 8 107696538 107696538 T G SNP OXR1 ENST00000442977 human ensembl 69_37n +1 known missense c.479 p.V160G 0.998 NULL pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 642 0 0.00 431 116 21.21 - - - PCDHA7 0 genome.wustl.edu 37 5 140215374 140215374 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 5 140215374 140215374 C T SNP PCDHA7 ENST00000525929 human ensembl 69_37n +1 known missense c.1406 p.P469L 0.220 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHA7 HGNC ENSG00000204963 14 0 0.00 9 10 52.63 - - - PCDHGA5 0 genome.wustl.edu 37 5 140745927 140745927 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 5 140745927 140745927 G A SNP PCDHGA5 ENST00000518069 human ensembl 69_37n +1 known missense c.2030 p.S677N 0.115 pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGA5 HGNC ENSG00000253485 19 0 0.00 16 8 33.33 - - - PGAP2 0 genome.wustl.edu 37 11 3845298 3845298 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 11 3845298 3845298 C T SNP PGAP2 ENST00000396993 human ensembl 69_37n +1 known missense c.211 p.R71W 0.002 NULL NULL - no_errors PGAP2 HGNC ENSG00000148985 71 0 0.00 34 13 27.66 - - - PIEZO2 0 genome.wustl.edu 37 18 10773432 10773432 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 18 10773432 10773432 G A SNP PIEZO2 ENST00000582913 human ensembl 69_37n -1 known silent c.2730 p.S910 0.202 NULL NULL - no_errors PIEZO2 HGNC ENSG00000154864 97 0 0.00 31 31 50.00 - - - PLSCR2 0 genome.wustl.edu 37 3 146171913 146171913 + Missense_Mutation SNP T T G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 3 146171913 146171913 T G SNP PLSCR2 ENST00000336685 human ensembl 69_37n -1 known missense c.359 p.Y120S 1.000 pfam_Scramblase pfam_Scramblase,superfamily_Tubby_C-like - no_errors PLSCR2 HGNC ENSG00000163746 482 0 0.00 52 240 82.19 - - - PPFIA1 0 genome.wustl.edu 37 11 70202345 70202345 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 11 70202345 70202345 G A SNP PPFIA1 ENST00000253925 human ensembl 69_37n +1 known missense c.2567 p.R856H 0.895 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 162 0 0.00 311 37 10.63 - - - PXDNL 0 genome.wustl.edu 37 8 52359611 52359611 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 8 52359611 52359611 G A SNP PXDNL ENST00000356297 human ensembl 69_37n -1 known missense c.1478 p.S493L 0.695 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like - no_errors PXDNL HGNC ENSG00000147485 137 0 0.00 96 57 37.25 - - - RAE1 0 genome.wustl.edu 37 20 55953115 55953115 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 20 55953115 55953115 G A SNP RAE1 ENST00000371242 human ensembl 69_37n +1 known missense c.1067 p.R356H 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors RAE1 HGNC ENSG00000101146 222 1 0.45 299 47 13.58 - - - RAPGEF6 0 genome.wustl.edu 37 5 130769161 130769161 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 5 130769161 130769161 G A SNP RAPGEF6 ENST00000509018 human ensembl 69_37n -1 known silent c.3936 p.H1312 0.610 NULL pfam_RasGRF_CDC25,pfam_PDZ,pfam_Ras-assoc,pfam_cNMP-bd_dom,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,superfamily_PDZ,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,smart_Ras-like_Gua-exchang_fac_N,smart_PDZ,smart_Ras-assoc,smart_RasGRF_CDC25,pfscan_cNMP-bd_dom,pfscan_PDZ,pfscan_Ras-assoc,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF6 HGNC ENSG00000158987 168 0 0.00 65 88 57.52 - - - RBMXL3 0 genome.wustl.edu 37 X 114425210 114425210 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d X 114425210 114425210 G A SNP RBMXL3 ENST00000424776 human ensembl 69_37n +1 known silent c.1206 p.G402 0.083 NULL pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RBMXL3 HGNC ENSG00000175718 8 0 0.00 5 7 58.33 - - - RDM1 0 genome.wustl.edu 37 17 34249590 34249590 + Missense_Mutation SNP C C A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 17 34249590 34249590 C A SNP RDM1 ENST00000293273 human ensembl 69_37n -1 known missense c.658 p.V220F 0.956 NULL pfam_RRM_dom,pfam_Rad52_Rad22,pfscan_RRM_dom - no_errors RDM1 HGNC ENSG00000187456 346 1 0.29 402 59 12.80 - - - RIC8A 0 genome.wustl.edu 37 11 212446 212446 + Missense_Mutation SNP G G C TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 11 212446 212446 G C SNP RIC8A ENST00000325207 human ensembl 69_37n +1 known missense c.1000 p.V334L 0.993 pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn - no_errors RIC8A HGNC ENSG00000177963 30 0 0.00 16 6 27.27 - - - RND1 0 genome.wustl.edu 37 12 49251827 49251827 + Missense_Mutation SNP G G C TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 12 49251827 49251827 G C SNP RND1 ENST00000309739 human ensembl 69_37n -1 known missense c.651 p.I217M 1.000 NULL pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RND1 HGNC ENSG00000172602 239 0 0.00 188 57 23.27 - - - RPGR 0 genome.wustl.edu 37 X 38145650 38145651 + Frame_Shift_Ins INS - - T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d X 38145650 38145651 - T INS RPGR ENST00000378505 human ensembl 69_37n -1 known frame_shift_ins c.2602_2601 p.E867fs 0.002:0.000 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 44 0 0.00 6 4 40.00 - - - RYR2 0 genome.wustl.edu 37 1 237551480 237551480 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 1 237551480 237551480 G A SNP RYR2 ENST00000360064 human ensembl 69_37n +1 known missense c.764 p.R255Q 1.000 pfam_MIR,superfamily_MIR,smart_MIR_motif,pfscan_MIR_motif pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 142 0 0.00 56 65 53.72 - - - SCN10A 0 genome.wustl.edu 37 3 38793791 38793791 + Missense_Mutation SNP G G T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 3 38793791 38793791 G T SNP SCN10A ENST00000449082 human ensembl 69_37n -1 known missense c.1674 p.S558R 0.283 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 - no_errors SCN10A HGNC ENSG00000185313 144 0 0.00 97 38 28.15 - - - SCN2A 0 genome.wustl.edu 37 2 166245632 166245632 + Silent SNP C C A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 2 166245632 166245632 C A SNP SCN2A ENST00000283256 human ensembl 69_37n +1 known silent c.5316 p.I1772 0.956 pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2 pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN2A HGNC ENSG00000136531 380 0 0.00 35 33 48.53 - - - SGK2 0 genome.wustl.edu 37 20 42195142 42195142 + Missense_Mutation SNP T T C TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 20 42195142 42195142 T C SNP SGK2 ENST00000341458 human ensembl 69_37n +1 known missense c.187 p.S63P 0.978 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom - no_errors SGK2 HGNC ENSG00000101049 67 0 0.00 75 34 31.19 - - - SHOX 0 genome.wustl.edu 37 X 591785 591785 + Silent SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d X 591785 591785 G A SNP SHOX ENST00000381578 human ensembl 69_37n +1 known silent c.153 p.T51 0.978 NULL pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_HTH_motif - no_errors SHOX HGNC ENSG00000185960 78 0 0.00 42 19 31.15 - - - STXBP5 0 genome.wustl.edu 37 6 147703925 147703926 + Frame_Shift_Ins INS - - A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 6 147703925 147703926 - A INS STXBP5 ENST00000321680 human ensembl 69_37n +1 known frame_shift_ins c.3205_3206 p.S1069fs 0.856:0.998 NULL pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant - no_errors STXBP5 HGNC ENSG00000164506 71 0 0.00 8 3 27.27 - - - TEX14 0 genome.wustl.edu 37 17 56690897 56690897 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 17 56690897 56690897 C T SNP TEX14 ENST00000240361 human ensembl 69_37n -1 known missense c.908 p.R303Q 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,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors TEX14 HGNC ENSG00000121101 114 0 0.00 22 66 75.00 - - - TMEM57 0 genome.wustl.edu 37 1 25783154 25783154 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 1 25783154 25783154 C T SNP TMEM57 ENST00000374343 human ensembl 69_37n +1 known missense c.484 p.P162S 1.000 pfam_Macoilin pfam_Macoilin,superfamily_Prefoldin - no_errors TMEM57 HGNC ENSG00000204178 114 0 0.00 18 29 61.70 - - - TNFSF10 0 genome.wustl.edu 37 3 172224441 172224441 + Silent SNP A A G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 3 172224441 172224441 A G SNP TNFSF10 ENST00000241261 human ensembl 69_37n -1 known silent c.687 p.S229 0.300 pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pirsf_TNF_ligand_10/11,pfscan_TNF - no_errors TNFSF10 HGNC ENSG00000121858 794 0 0.00 973 172 15.02 - - - TP53 0 genome.wustl.edu 37 17 7578259 7578259 + Missense_Mutation SNP A A C TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 17 7578259 7578259 A C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.590 p.V197G 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd 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 216 2 0.91 44 113 71.97 - - - TTLL4 0 genome.wustl.edu 37 2 219611916 219611916 + Nonsense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 2 219611916 219611916 C T SNP TTLL4 ENST00000417196 human ensembl 69_37n +1 known nonsense c.496 p.Q166* 1.000 pfam_Tub_tyr_ligase pfam_Tub_tyr_ligase - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region TTLL4 HGNC ENSG00000135912 115 0 0.00 73 27 27.00 - - - TYRP1 0 genome.wustl.edu 37 9 12702411 12702414 + Frame_Shift_Del DEL ACAA ACAA - TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 ACAA ACAA Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 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 224 0 0.00 18 20 51.28 - - - VIL1 0 genome.wustl.edu 37 2 219295614 219295614 + Missense_Mutation SNP C C T TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 2 219295614 219295614 C T SNP VIL1 ENST00000440053 human ensembl 69_37n +1 putative missense c.1115 p.A372V 0.000 NULL pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin - no_errors VIL1 HGNC ENSG00000127831 21 0 0.00 3 20 86.96 - - - ZNF778 0 genome.wustl.edu 37 16 89291996 89291996 + Missense_Mutation SNP G G A TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 16 89291996 89291996 G A SNP ZNF778 ENST00000433976 human ensembl 69_37n +1 known missense c.278 p.R93Q 0.004 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box 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 ZNF778 HGNC ENSG00000170100 261 0 0.00 197 66 25.10 - - - ZPLD1 0 genome.wustl.edu 37 3 102171957 102171957 + Missense_Mutation SNP T T G TCGA-AQ-A04H-01B-11D-A10M-09 TCGA-AQ-A04H-10A-01D-A10M-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 73c13e04-1400-4ebb-aa80-f54becbe036c 751944ed-705b-43b8-99fc-a49a6514941d 3 102171957 102171957 T G SNP ZPLD1 ENST00000306176 human ensembl 69_37n +1 known missense c.349 p.L117V 1.000 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors ZPLD1 HGNC ENSG00000170044 117 0 0.00 55 19 25.68 - - -