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 C1orf112 0 genome.wustl.edu 37 1 169770068 169770068 + Missense_Mutation SNP C C A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 1 169770068 169770068 C A SNP C1orf112 ENST00000286031 human ensembl 69_37n +1 known missense c.22 p.H8N 0.997 NULL NULL - no_errors C1orf112 HGNC ENSG00000000460 43 0 0.00 33 19 35.85 - - - CCDC136 0 genome.wustl.edu 37 7 128455958 128455958 + Missense_Mutation SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 7 128455958 128455958 C T SNP CCDC136 ENST00000494552 human ensembl 69_37n +1 novel missense c.2966 p.T989I 0.976 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CCDC136 HGNC ENSG00000128596 73 0 0.00 68 11 13.92 - - - CCDC19 0 genome.wustl.edu 37 1 159858227 159858227 + Missense_Mutation SNP C C A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 1 159858227 159858227 C A SNP CCDC19 ENST00000368099 human ensembl 69_37n -1 known missense c.332 p.R111L 0.954 NULL NULL - no_errors CCDC19 HGNC ENSG00000213085 55 0 0.00 68 56 44.44 - - - CDK3 0 genome.wustl.edu 37 17 73998015 73998015 + Silent SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 17 73998015 73998015 G A SNP CDK3 ENST00000425876 human ensembl 69_37n +1 known silent c.177 p.K59 1.000 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 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 - no_errors CDK3 HGNC ENSG00000250506 49 0 0.00 68 43 38.74 - - - CNTNAP3B 0 genome.wustl.edu 37 9 43876040 43876040 + Missense_Mutation SNP C C A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 9 43876040 43876040 C A SNP CNTNAP3B ENST00000377564 human ensembl 69_37n +1 known missense c.2132 p.S711Y 0.997 NULL 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 CNTNAP3B HGNC ENSG00000154529 26 0 0.00 28 5 15.15 - - - CWC27 0 genome.wustl.edu 37 5 64081367 64081367 + Silent SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 5 64081367 64081367 C T SNP CWC27 ENST00000381070 human ensembl 69_37n +1 known silent c.456 p.D152 0.588 pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors CWC27 HGNC ENSG00000153015 71 0 0.00 90 13 12.62 - - - DICER1 0 genome.wustl.edu 37 14 95562728 95562728 + Missense_Mutation SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 14 95562728 95562728 C T SNP DICER1 ENST00000343455 human ensembl 69_37n -1 known missense c.4529 p.C1510Y 1.000 pfam_RNase_III_dom,superfamily_RNase_III_dom,smart_RNase_III_dom pfam_RNase_III_dom,pfam_PAZ,pfam_Dicer_dsRNA_binding_fold,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase/UvrB_dom,superfamily_RNase_III_dom,superfamily_PAZ,smart_Helicase_ATP-bd,smart_Helicase_C,smart_PAZ,smart_RNase_III_dom,smart_Ds-RNA-bd,pfscan_PAZ,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Ds-RNA-bd,pfscan_RNase_III_dom - no_errors DICER1 HGNC ENSG00000100697 42 0 0.00 53 41 43.62 - - - DMRTB1 0 genome.wustl.edu 37 1 53927225 53927225 + Silent SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 1 53927225 53927225 G A SNP DMRTB1 ENST00000371445 human ensembl 69_37n +1 known silent c.657 p.P219 0.000 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 27 0 0.00 42 16 27.59 - - - EXOSC7 0 genome.wustl.edu 37 3 45030632 45030632 + Missense_Mutation SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 3 45030632 45030632 G A SNP EXOSC7 ENST00000265564 human ensembl 69_37n +1 known missense c.58 p.E20K 1.000 NULL pfam_ExoRNase_PH_dom1,pfam_ExoRNase_PH_dom2,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ExoRNase_PH_dom2 - no_errors EXOSC7 HGNC ENSG00000075914 132 0 0.00 187 23 10.90 - - - FAM122B 0 genome.wustl.edu 37 X 133923130 133923130 + Silent SNP A A G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 X 133923130 133923130 A G SNP FAM122B ENST00000343004 human ensembl 69_37n -1 known silent c.318 p.D106 1.000 NULL NULL - no_errors FAM122B HGNC ENSG00000156504 85 0 0.00 91 80 46.78 - - - FAM188B 0 genome.wustl.edu 37 7 30876302 30876302 + Silent SNP A A G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 7 30876302 30876302 A G SNP FAM188B ENST00000265299 human ensembl 69_37n +1 known silent c.1161 p.E387 0.988 NULL NULL - no_errors FAM188B HGNC ENSG00000106125 107 0 0.00 122 80 39.60 - - - FURIN 0 genome.wustl.edu 37 15 91422703 91422703 + Silent SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 15 91422703 91422703 G A SNP FURIN ENST00000268171 human ensembl 69_37n +1 known silent c.1083 p.T361 0.481 pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53 pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,superfamily_Growth_fac_rcpt,smart_Furin_repeat,prints_Peptidase_S8_subtilisin-rel - no_errors FURIN HGNC ENSG00000140564 26 0 0.00 24 19 44.19 - - - GBP1 0 genome.wustl.edu 37 1 89524918 89524918 + RNA SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 1 89524918 89524918 C T SNP GBP1 ENST00000493139 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors GBP1 HGNC ENSG00000117228 71 0 0.00 66 35 34.65 - - - HEG1 0 genome.wustl.edu 37 3 124739694 124739694 + Missense_Mutation SNP T T G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 3 124739694 124739694 T G SNP HEG1 ENST00000311127 human ensembl 69_37n -1 known missense c.1194 p.E398D 0.075 NULL pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom - no_errors HEG1 HGNC ENSG00000173706 63 0 0.00 101 23 18.55 - - - IRF7 0 genome.wustl.edu 37 11 615281 615281 + Missense_Mutation SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 11 615281 615281 G A SNP IRF7 ENST00000330243 human ensembl 69_37n -1 known missense c.38 p.S13F 0.000 NULL pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom - no_errors IRF7 HGNC ENSG00000185507 8 0 0.00 4 5 55.56 - - - KLC2 0 genome.wustl.edu 37 11 66033219 66033219 + Silent SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 11 66033219 66033219 C T SNP KLC2 ENST00000316924 human ensembl 69_37n +1 known silent c.1428 p.S476 0.992 NULL pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light - no_errors KLC2 HGNC ENSG00000174996 13 0 0.00 25 9 25.71 - - - LONRF3 0 genome.wustl.edu 37 X 118140133 118140133 + Missense_Mutation SNP A A G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 X 118140133 118140133 A G SNP LONRF3 ENST00000371628 human ensembl 69_37n +1 known missense c.1465 p.K489E 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RING - no_errors LONRF3 HGNC ENSG00000175556 122 0 0.00 153 84 35.15 - - - MAGED1 0 genome.wustl.edu 37 X 51638615 51638615 + Missense_Mutation SNP A A T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 X 51638615 51638615 A T SNP MAGED1 ENST00000375695 human ensembl 69_37n +1 known missense c.680 p.D227V 0.939 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGED1 HGNC ENSG00000179222 66 0 0.00 109 15 11.90 - - - MUC12 0 genome.wustl.edu 37 7 100643088 100643088 + Missense_Mutation SNP A A G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 7 100643088 100643088 A G SNP MUC12 ENST00000379442 human ensembl 69_37n +1 known missense c.9673 p.I3225V 0.000 NULL pfam_SEA - no_errors MUC12 HGNC ENSG00000205277 32 0 0.00 42 8 16.00 - - - NEB 0 genome.wustl.edu 37 2 152483718 152483718 + Missense_Mutation SNP T T C TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 2 152483718 152483718 T C SNP NEB ENST00000397345 human ensembl 69_37n -1 known missense c.10145 p.N3382S 0.958 smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom_bac,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,prints_Nebulin,pfscan_Nebulin_35r-motif,pfscan_SH3_domain - no_errors NEB HGNC ENSG00000183091 102 0 0.00 108 43 28.48 - - - OSBPL9 0 genome.wustl.edu 37 1 52222005 52222005 + Missense_Mutation SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 1 52222005 52222005 C T SNP OSBPL9 ENST00000371710 human ensembl 69_37n +1 known missense c.611 p.A204V 1.000 NULL pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL9 HGNC ENSG00000117859 78 0 0.00 72 9 11.11 - - - PCSK5 0 genome.wustl.edu 37 9 78790192 78790192 + Missense_Mutation SNP C C G TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 9 78790192 78790192 C G SNP PCSK5 ENST00000376767 human ensembl 69_37n +1 known missense c.2047 p.R683G 0.006 NULL pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 11 0 0.00 13 6 31.58 - - - PKD1 0 genome.wustl.edu 37 16 2143858 2143858 + Missense_Mutation SNP C C A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 16 2143858 2143858 C A SNP PKD1 ENST00000262304 human ensembl 69_37n -1 known missense c.10775 p.S3592I 0.995 prints_PKD_1 pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,prints_PKD_1,tigrfam_Polycystin_cat - no_errors PKD1 HGNC ENSG00000008710 23 0 0.00 12 10 45.45 - - - PPFIA1 0 genome.wustl.edu 37 11 70224272 70224272 + Missense_Mutation SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 11 70224272 70224272 C T SNP PPFIA1 ENST00000253925 human ensembl 69_37n +1 known missense c.3521 p.S1174F 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA1 HGNC ENSG00000131626 83 0 0.00 347 55 13.68 - - - PTEN 0 genome.wustl.edu 37 10 89624272 89624273 + Frame_Shift_Ins INS - - A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 10 89624272 89624273 - A INS PTEN ENST00000371953 human ensembl 69_37n +1 known frame_shift_ins c.46_47 p.Y16fs 1.000:1.000 pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Phosphatase_tensin-typ pfam_Tensin_phosphatase_C2-dom,pfam_Dual-sp_phosphatase_cat-dom,pfam_Tyr_Pase_rcpt/non-rcpt,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Tyr_Pase_cat,pirsf_Bifunc_PIno_P3_Pase/Pase_PTEN,pfscan_Tyr/Dual-specificity_Pase,pfscan_Phosphatase_tensin-typ,pfscan_Tensin_phosphatase_C2-dom - no_errors PTEN HGNC ENSG00000171862 124 0 0.00 39 84 68.29 - - - PTPRB 0 genome.wustl.edu 37 12 70928673 70928673 + Silent SNP C C A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 12 70928673 70928673 C A SNP PTPRB ENST00000334414 human ensembl 69_37n -1 known silent c.6144 p.L2048 0.998 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Fibronectin_type3,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Ricin_B_lectin,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRB HGNC ENSG00000127329 31 0 0.00 44 22 33.33 - - - RAB1B 0 genome.wustl.edu 37 11 66039643 66039643 + Missense_Mutation SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 11 66039643 66039643 G A SNP RAB1B ENST00000311481 human ensembl 69_37n +1 known missense c.103 p.E35K 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_ProtSyn_GTP-bd,pfam_SRP_receptor_beta_su,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB1B HGNC ENSG00000174903 48 0 0.00 257 55 17.63 - - - SCN8A 0 genome.wustl.edu 37 12 52188168 52188168 + Missense_Mutation SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 12 52188168 52188168 G A SNP SCN8A ENST00000354534 human ensembl 69_37n +1 known missense c.4538 p.G1513E 1.000 NULL pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS - no_errors SCN8A HGNC ENSG00000196876 90 0 0.00 106 61 36.53 - - - SLC17A2 0 genome.wustl.edu 37 6 25921519 25921520 + Frame_Shift_Ins INS - - T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 6 25921519 25921520 - T INS SLC17A2 ENST00000377850 human ensembl 69_37n -1 known frame_shift_ins c.362_361 p.M121fs 0.956:0.558 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC17A2 HGNC ENSG00000112337 91 0 0.00 91 54 37.24 - - - SLC25A43 0 genome.wustl.edu 37 X 118586830 118586830 + Missense_Mutation SNP A A C TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 X 118586830 118586830 A C SNP SLC25A43 ENST00000336249 human ensembl 69_37n +1 known missense c.655 p.S219R 0.999 NULL pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A43 HGNC ENSG00000077713 69 0 0.00 66 11 14.29 - - - SPATA13 0 genome.wustl.edu 37 13 24860370 24860370 + Missense_Mutation SNP G G T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 13 24860370 24860370 G T SNP SPATA13 ENST00000382108 human ensembl 69_37n +1 known missense c.2320 p.V774L 0.962 superfamily_SH3_domain pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors SPATA13 HGNC ENSG00000182957 29 0 0.00 9 23 69.70 - - - TECTA 0 genome.wustl.edu 37 11 120996488 120996488 + Missense_Mutation SNP G G A TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 11 120996488 120996488 G A SNP TECTA ENST00000264037 human ensembl 69_37n +1 known missense c.1681 p.G561S 1.000 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 41 0 0.00 14 39 73.58 - - - TRAF7 0 genome.wustl.edu 37 16 2225153 2225153 + Splice_Site SNP T T C TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 16 2225153 2225153 T C SNP TRAF7 ENST00000326181 human ensembl 69_37n +1 known splice_site c.1386+2 e14+2 1.000 - - - no_errors TRAF7 HGNC ENSG00000131653 70 0 0.00 59 53 47.32 - - - UBXN11 0 genome.wustl.edu 37 1 26608890 26608891 + Frame_Shift_Del DEL CC CC - TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 CC CC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 1 26608890 26608891 CC - DEL UBXN11 ENST00000374221 human ensembl 69_37n -1 known frame_shift_del c.1463_1462 p.G488fs 0.001:0.001 NULL pfam_SEP_domain,superfamily_SEP_domain,pfscan_UBX - no_errors UBXN11 HGNC ENSG00000158062 8 0 0.00 9 4 30.77 - - - VPS13C 0 genome.wustl.edu 37 15 62283988 62283988 + Missense_Mutation SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 15 62283988 62283988 C T SNP VPS13C ENST00000261517 human ensembl 69_37n -1 known missense c.1367 p.G456E 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13C HGNC ENSG00000129003 86 0 0.00 125 51 28.81 - - - WFDC2 0 genome.wustl.edu 37 20 44108628 44108628 + Silent SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 20 44108628 44108628 C T SNP WFDC2 ENST00000372676 human ensembl 69_37n +1 known silent c.270 p.L90 0.032 pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core pfam_Whey_acidic_protein_4-diS_core,superfamily_Whey_acidic_protein_4-diS_core,smart_Whey_acidic_protein_4-diS_core,prints_4-disulphide_core - no_errors WFDC2 HGNC ENSG00000101443 63 0 0.00 74 43 36.44 - - - ZNF236 0 genome.wustl.edu 37 18 74625749 74625749 + Nonsense_Mutation SNP C C T TCGA-D8-A1JI-01A-11D-A13L-09 TCGA-D8-A1JI-10A-01D-A13O-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 2c6a885b-0452-492c-8829-13ba4b2ac455 011f9e39-3f8f-48df-b392-ab2963cfde84 18 74625749 74625749 C T SNP ZNF236 ENST00000253159 human ensembl 69_37n +1 known nonsense c.2950 p.Q984* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF236 HGNC ENSG00000130856 56 0 0.00 68 49 41.88 - - -