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 ABCA13 0 genome.wustl.edu 37 7 48547582 48547582 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 7 48547582 48547582 G T SNP ABCA13 ENST00000435803 human ensembl 69_37n +1 known missense c.13461 p.R4487S 0.039 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA13 HGNC ENSG00000179869 57 0 0.00 28 27 49.09 - - - ACTR1A 0 genome.wustl.edu 37 10 104239100 104239100 + RNA SNP T T C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 10 104239100 104239100 T C SNP ACTR1A ENST00000470322 human ensembl 69_37n -1 known rna NULL NULL 0.989 - - - no_errors ACTR1A HGNC ENSG00000138107 24 0 0.00 17 3 15.00 - - - AGAP6 0 genome.wustl.edu 37 10 51748684 51748684 + Missense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 10 51748684 51748684 G A SNP AGAP6 ENST00000374056 human ensembl 69_37n +1 known missense c.209 p.R70Q 0.971 NULL pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 121 0 0.00 106 15 12.40 - - - AHNAK2 0 genome.wustl.edu 37 14 105414242 105414242 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 14 105414242 105414242 C T SNP AHNAK2 ENST00000333244 human ensembl 69_37n -1 known missense c.7546 p.D2516N 0.572 NULL superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors AHNAK2 HGNC ENSG00000185567 52 0 0.00 39 30 43.48 - - - ALDH4A1 0 genome.wustl.edu 37 1 19209063 19209063 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 19209063 19209063 C T SNP ALDH4A1 ENST00000454547 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ALDH4A1 HGNC ENSG00000159423 85 0 0.00 48 28 36.36 - - - ANKRD20A2 0 genome.wustl.edu 37 9 42368549 42368549 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 42368549 42368549 C T SNP ANKRD20A2 ENST00000377601 human ensembl 69_37n +1 known silent c.135 p.D45 0.000 superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD20A2 HGNC ENSG00000183148 34 0 0.00 36 5 12.20 - - - ANKRD40 0 genome.wustl.edu 37 17 48776840 48776840 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 48776840 48776840 G C SNP ANKRD40 ENST00000285243 human ensembl 69_37n -1 known missense c.698 p.P233R 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD40 HGNC ENSG00000154945 58 0 0.00 33 18 35.29 - - - APC 0 genome.wustl.edu 37 5 112155003 112155006 + Frame_Shift_Del DEL AAGC AAGC - TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 AAGC AAGC Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 112155003 112155006 AAGC - DEL APC ENST00000257430 human ensembl 69_37n +1 known frame_shift_del c.1274_1277 p.E425fs 1.000:1.000:1.000:1.000 superfamily_ARM-type_fold pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 43 0 0.00 23 7 20.59 - - - ARAP1 0 genome.wustl.edu 37 11 72404378 72404378 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 72404378 72404378 C T SNP ARAP1 ENST00000393609 human ensembl 69_37n -1 known missense c.3946 p.E1316K 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_Ras-assoc,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP1 HGNC ENSG00000186635 59 0 0.00 97 20 16.95 - - - ARAP3 0 genome.wustl.edu 37 5 141052602 141052602 + Silent SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 141052602 141052602 G A SNP ARAP3 ENST00000239440 human ensembl 69_37n -1 known silent c.1071 p.F357 0.995 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_RhoGAP_dom,pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ras-assoc,pfam_SAM_2,pfam_SAM_type1,superfamily_Rho_GTPase_activation_prot,superfamily_ArfGAP,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP3 HGNC ENSG00000120318 13 0 0.00 10 4 28.57 - - - ARHGAP25 0 genome.wustl.edu 37 2 69002760 69002760 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 69002760 69002760 C T SNP ARHGAP25 ENST00000473986 human ensembl 69_37n +1 known missense c.200 p.T67M 0.000 NULL NULL - no_errors ARHGAP25 HGNC ENSG00000163219 31 0 0.00 35 4 10.26 - - - ARHGAP5 0 genome.wustl.edu 37 14 32615468 32615468 + Splice_Site SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 14 32615468 32615468 G T SNP ARHGAP5 ENST00000345122 human ensembl 69_37n +1 known splice_site c.3866-1 e3-1 1.000 - - - no_errors ARHGAP5 HGNC ENSG00000100852 36 0 0.00 33 4 10.81 - - - ATP1B4 0 genome.wustl.edu 37 X 119513401 119513401 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 X 119513401 119513401 G T SNP ATP1B4 ENST00000218008 human ensembl 69_37n +1 known missense c.986 p.C329F 1.000 pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu pfam_ATPase_P-typ_cation-exchng_bsu,tigrfam_ATPase_P-typ_cation-exchng_bsu - no_errors ATP1B4 HGNC ENSG00000101892 30 0 0.00 34 4 10.53 - - - BIRC3 0 genome.wustl.edu 37 11 102207781 102207781 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 102207781 102207781 G T SNP BIRC3 ENST00000263464 human ensembl 69_37n +1 known missense c.1763 p.C588F 1.000 smart_Znf_RING,pfscan_Znf_RING pfam_BIR,pfam_CARD,superfamily_DEATH-like,smart_BIR,smart_CARD,smart_Znf_RING,pfscan_CARD,pfscan_BIR,pfscan_Znf_RING - no_errors BIRC3 HGNC ENSG00000023445 52 0 0.00 40 5 11.11 - - - C17orf53 0 genome.wustl.edu 37 17 42225833 42225833 + Missense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 42225833 42225833 G A SNP C17orf53 ENST00000319977 human ensembl 69_37n +1 known missense c.662 p.G221D 0.000 NULL NULL - no_errors C17orf53 HGNC ENSG00000125319 52 0 0.00 41 6 12.50 - - - C17orf97 0 genome.wustl.edu 37 17 263516 263516 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 263516 263516 C T SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known silent c.882 p.G294 0.002 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 62 0 0.00 51 6 10.53 - - - C17orf97 0 genome.wustl.edu 37 17 263622 263622 + Missense_Mutation SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 263622 263622 A G SNP C17orf97 ENST00000360127 human ensembl 69_37n +1 known missense c.988 p.K330E 0.000 NULL NULL - no_errors C17orf97 HGNC ENSG00000187624 34 0 0.00 36 5 12.20 - - - C19orf54 0 genome.wustl.edu 37 19 41255500 41255500 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 19 41255500 41255500 C G SNP C19orf54 ENST00000378313 human ensembl 69_37n -1 known missense c.209 p.R70P 1.000 NULL NULL - no_errors C19orf54 HGNC ENSG00000188493 32 0 0.00 43 7 13.73 - - - C21orf88 0 genome.wustl.edu 37 21 40971464 40971464 + RNA SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 21 40971464 40971464 G C SNP C21orf88 ENST00000489821 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors C21orf88 HGNC ENSG00000184809 28 0 0.00 24 4 14.29 - - - C9orf116 0 genome.wustl.edu 37 9 138391299 138391299 + Nonstop_Mutation SNP T T A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 138391299 138391299 T A SNP C9orf116 ENST00000419770 human ensembl 69_37n -1 putative nonstop c.66 p.*22C 0.000 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region C9orf116 HGNC ENSG00000160345 48 0 0.00 38 5 11.63 - - - C9orf62 0 genome.wustl.edu 37 9 138236031 138236031 + Silent SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 138236031 138236031 A G SNP C9orf62 ENST00000320778 human ensembl 69_37n +1 putative silent c.237 p.P79 0.000 NULL NULL - no_errors C9orf62 HGNC ENSG00000178243 29 0 0.00 28 5 15.15 - - - CACNB3 0 genome.wustl.edu 37 12 49220574 49220574 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 12 49220574 49220574 G T SNP CACNB3 ENST00000301050 human ensembl 69_37n +1 known missense c.927 p.K309N 1.000 pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,prints_VDCC_L_bsu,prints_VDCC_L_b3su - no_errors CACNB3 HGNC ENSG00000167535 37 0 0.00 33 4 10.53 - - - CCDC74B 0 genome.wustl.edu 37 2 130900188 130900188 + Missense_Mutation SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 130900188 130900188 A G SNP CCDC74B ENST00000392984 human ensembl 69_37n -1 known missense c.368 p.V123A 0.000 NULL NULL - no_errors CCDC74B HGNC ENSG00000152076 29 0 0.00 26 8 23.53 - - - CD2AP 0 genome.wustl.edu 37 6 47549883 47549883 + RNA SNP T T C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 47549883 47549883 T C SNP CD2AP ENST00000479857 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors CD2AP HGNC ENSG00000198087 23 0 0.00 18 5 21.74 - - - CDH1 0 genome.wustl.edu 37 16 68845757 68845757 + Nonsense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 16 68845757 68845757 C T SNP CDH1 ENST00000261769 human ensembl 69_37n +1 known nonsense c.1003 p.R335* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH1 HGNC ENSG00000039068 34 0 0.00 8 12 57.14 - - - CELA3B 0 genome.wustl.edu 37 1 22304463 22304463 + Silent SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 22304463 22304463 A G SNP CELA3B ENST00000374666 human ensembl 69_37n +1 known silent c.75 p.Q25 0.000 NULL pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_stop_codon:bad_bp_length_for_coding_region CELA3B HGNC ENSG00000219073 15 0 0.00 11 5 31.25 - - - CHRNA7 0 genome.wustl.edu 37 15 32460485 32460485 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 15 32460485 32460485 C T SNP CHRNA7 ENST00000454250 human ensembl 69_37n +1 known silent c.1422 p.N474 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNA7 HGNC ENSG00000175344 14 0 0.00 14 8 36.36 - - - CKAP2 0 genome.wustl.edu 37 13 53035902 53035902 + Nonsense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 13 53035902 53035902 C G SNP CKAP2 ENST00000378037 human ensembl 69_37n +1 known nonsense c.944 p.S315* 0.011 NULL NULL - no_errors CKAP2 HGNC ENSG00000136108 20 0 0.00 23 9 28.12 - - - CPNE4 0 genome.wustl.edu 37 3 131253669 131253669 + RNA SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 131253669 131253669 C G SNP CPNE4 ENST00000503204 human ensembl 69_37n -1 known rna NULL NULL 0.992 - - - no_errors CPNE4 HGNC ENSG00000196353 22 0 0.00 16 16 50.00 - - - CPNE4 0 genome.wustl.edu 37 3 131253786 131253786 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 131253786 131253786 C T SNP CPNE4 ENST00000503204 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors CPNE4 HGNC ENSG00000196353 40 0 0.00 22 14 38.89 - - - CRHBP 0 genome.wustl.edu 37 5 76264653 76264653 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 76264653 76264653 C T SNP CRHBP ENST00000274368 human ensembl 69_37n +1 known silent c.912 p.Y304 0.000 pfam_CRF-bd,pirsf_CRF-bd pfam_CRF-bd,superfamily_CUB,pirsf_CRF-bd - no_errors CRHBP HGNC ENSG00000145708 36 0 0.00 31 18 36.73 - - - CT47A6 0 genome.wustl.edu 37 X 120094429 120094429 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 X 120094429 120094429 C T SNP CT47A6 ENST00000443600 human ensembl 69_37n -1 known silent c.654 p.E218 0.038 NULL NULL - no_errors CT47A6 HGNC ENSG00000226023 76 0 0.00 17 45 72.58 - - - CYP2D7P1 0 genome.wustl.edu 37 22 42537597 42537597 + Silent SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 22 42537597 42537597 A G SNP CYP2D7P1 ENST00000433992 human ensembl 69_37n -1 known silent c.933 p.L311 0.308 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CYP2D7P1 HGNC ENSG00000205702 43 0 0.00 23 5 17.86 - - - CYP2D7P1 0 genome.wustl.edu 37 22 42538618 42538618 + Missense_Mutation SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 22 42538618 42538618 A G SNP CYP2D7P1 ENST00000433992 human ensembl 69_37n -1 known missense c.529 p.S177P 0.000 NULL NULL - pseudogene:no_stop_codon:bad_bp_length_for_coding_region CYP2D7P1 HGNC ENSG00000205702 82 0 0.00 42 6 12.50 - - - DNAAF2 0 genome.wustl.edu 37 14 50101024 50101024 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 14 50101024 50101024 C T SNP DNAAF2 ENST00000298292 human ensembl 69_37n -1 known missense c.844 p.E282K 1.000 NULL NULL - no_errors DNAAF2 HGNC ENSG00000165506 9 0 0.00 5 7 58.33 - - - DST 0 genome.wustl.edu 37 6 56323956 56323956 + Missense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 56323956 56323956 G A SNP DST ENST00000523292 human ensembl 69_37n -1 novel missense c.626 p.S209F 1.000 NULL pfam_GAS2_dom,superfamily_GAS2_dom,smart_GAS2_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region DST HGNC ENSG00000151914 32 0 0.00 18 14 43.75 - - - ERICH1 0 genome.wustl.edu 37 8 565232 565232 + Silent SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 8 565232 565232 C G SNP ERICH1 ENST00000522706 human ensembl 69_37n -1 novel silent c.1029 p.G343 0.000 NULL NULL - no_errors ERICH1 HGNC ENSG00000104714 66 0 0.00 31 6 16.22 - - - ESAM 0 genome.wustl.edu 37 11 124622534 124622534 + Nonsense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 124622534 124622534 C T SNP ESAM ENST00000442070 human ensembl 69_37n -1 known nonsense c.369 p.W123* 0.000 NULL NULL - no_errors ESAM HGNC ENSG00000149564 37 0 0.00 27 4 12.50 - - - EXD1 0 genome.wustl.edu 37 15 41518645 41518645 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 15 41518645 41518645 C T SNP EXD1 ENST00000458580 human ensembl 69_37n -1 putative silent c.129 p.K43 0.996 NULL pfam_3'-5'_exonuclease_dom,superfamily_RNaseH-like_dom,smart_3'-5'_exonuclease_dom - no_errors EXD1 HGNC ENSG00000178997 20 0 0.00 16 11 40.74 - - - FAM3C 0 genome.wustl.edu 37 7 120990532 120990532 + Missense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 7 120990532 120990532 G A SNP FAM3C ENST00000359943 human ensembl 69_37n -1 known missense c.667 p.P223S 1.000 NULL NULL - no_errors FAM3C HGNC ENSG00000196937 28 0 0.00 26 14 35.00 - - - FAM82B 0 genome.wustl.edu 37 8 87486571 87486571 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 8 87486571 87486571 G T SNP FAM82B ENST00000406452 human ensembl 69_37n -1 known missense c.911 p.A304D 0.993 NULL NULL - no_errors FAM82B HGNC ENSG00000176623 27 0 0.00 34 4 10.53 - - - FAT2 0 genome.wustl.edu 37 5 150925106 150925106 + Missense_Mutation SNP T T A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 150925106 150925106 T A SNP FAT2 ENST00000261800 human ensembl 69_37n -1 known missense c.5582 p.H1861L 0.000 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 18 0 0.00 14 8 36.36 - - - FEZ1 0 genome.wustl.edu 37 11 125325838 125325838 + Nonsense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 125325838 125325838 G A SNP FEZ1 ENST00000278919 human ensembl 69_37n -1 known nonsense c.832 p.Q278* 1.000 pfam_FEZ pfam_FEZ - no_errors FEZ1 HGNC ENSG00000149557 32 0 0.00 14 21 60.00 - - - G6PC 0 genome.wustl.edu 37 17 41059644 41059644 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 41059644 41059644 C T SNP G6PC ENST00000253801 human ensembl 69_37n +1 known missense c.445 p.R149W 0.927 pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase,pirsf_Glucose-6-phosphatase - no_errors G6PC HGNC ENSG00000131482 22 0 0.00 16 13 44.83 - - - GLI4 0 genome.wustl.edu 37 8 144357213 144357213 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 8 144357213 144357213 G C SNP GLI4 ENST00000521682 human ensembl 69_37n +1 putative missense c.289 p.V97L 0.249 NULL NULL - no_errors GLI4 HGNC ENSG00000250571 29 0 0.00 26 4 13.33 - - - GPR25 0 genome.wustl.edu 37 1 200843069 200843069 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 200843069 200843069 G T SNP GPR25 ENST00000304244 human ensembl 69_37n +1 known missense c.904 p.A302S 1.000 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn - no_errors GPR25 HGNC ENSG00000170128 22 0 0.00 17 3 15.00 - - - GRHL1 0 genome.wustl.edu 37 2 10098918 10098918 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 10098918 10098918 C G SNP GRHL1 ENST00000324907 human ensembl 69_37n +1 known missense c.211 p.P71A 1.000 NULL pfam_CP2 - no_errors GRHL1 HGNC ENSG00000134317 18 0 0.00 3 10 76.92 - - - GUCA1C 0 genome.wustl.edu 37 3 108626979 108626979 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 108626979 108626979 C T SNP GUCA1C ENST00000261047 human ensembl 69_37n -1 known missense c.520 p.D174N 0.114 NULL pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 28 0 0.00 38 11 22.45 - - - HMCN1 0 genome.wustl.edu 37 1 186106712 186106712 + Silent SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 186106712 186106712 G T SNP HMCN1 ENST00000271588 human ensembl 69_37n +1 known silent c.13665 p.L4555 0.953 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_errors HMCN1 HGNC ENSG00000143341 32 0 0.00 36 4 10.00 - - - HS3ST3A1 0 genome.wustl.edu 37 17 13399616 13399616 + Silent SNP A A T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 13399616 13399616 A T SNP HS3ST3A1 ENST00000284110 human ensembl 69_37n -1 known silent c.1119 p.P373 0.998 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors HS3ST3A1 HGNC ENSG00000153976 41 0 0.00 33 5 13.16 - - - ICOSLG 0 genome.wustl.edu 37 21 45648918 45648918 + Nonstop_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 21 45648918 45648918 C G SNP ICOSLG ENST00000407780 human ensembl 69_37n -1 known nonstop c.908 p.*303S 0.019 NULL pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,pfscan_Ig-like - no_errors ICOSLG HGNC ENSG00000160223 58 0 0.00 34 21 38.18 - - - IGHV4-31 0 genome.wustl.edu 37 14 106805395 106805395 + Silent SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 14 106805395 106805395 G A SNP IGHV4-31 ENST00000438142 human ensembl 69_37n -1 known silent c.168 p.S56 0.002 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-31 HGNC ENSG00000231475 40 0 0.00 61 8 11.59 - - - IGHV4-31 0 genome.wustl.edu 37 14 106805408 106805408 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 14 106805408 106805408 C T SNP IGHV4-31 ENST00000438142 human ensembl 69_37n -1 known missense c.155 p.G52D 0.000 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like - no_stop_codon IGHV4-31 HGNC ENSG00000231475 42 0 0.00 59 7 10.61 - - - IGSF22 0 genome.wustl.edu 37 11 18731134 18731134 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 18731134 18731134 G C SNP IGSF22 ENST00000513874 human ensembl 69_37n -1 known missense c.2798 p.S933C 0.538 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like - no_errors IGSF22 HGNC ENSG00000179057 26 0 0.00 32 17 34.69 - - - IL1RL1 0 genome.wustl.edu 37 2 102957716 102957716 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 102957716 102957716 C T SNP IL1RL1 ENST00000393393 human ensembl 69_37n +1 known silent c.679 p.L227 0.001 NULL pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,prints_IL1_rcpt_I/II,pfscan_Ig-like - no_errors IL1RL1 HGNC ENSG00000115602 37 0 0.00 43 5 10.42 - - - ITGA2 0 genome.wustl.edu 37 5 52361805 52361805 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 52361805 52361805 C T SNP ITGA2 ENST00000296585 human ensembl 69_37n +1 known silent c.1941 p.L647 1.000 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,prints_Integrin_alpha,pfscan_VWF_A - no_errors ITGA2 HGNC ENSG00000164171 38 0 0.00 36 26 41.94 - - - KIAA2026 0 genome.wustl.edu 37 9 5968235 5968235 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 5968235 5968235 C G SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.1996 p.E666Q 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 16 0 0.00 15 6 28.57 - - - KIAA2026 0 genome.wustl.edu 37 9 5968452 5968452 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 5968452 5968452 C G SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.1779 p.R593S 0.004 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 40 0 0.00 29 14 32.56 - - - KIAA2026 0 genome.wustl.edu 37 9 5968701 5968701 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 5968701 5968701 C G SNP KIAA2026 ENST00000399933 human ensembl 69_37n -1 novel missense c.1530 p.E510D 1.000 NULL superfamily_Bromodomain - no_errors KIAA2026 HGNC ENSG00000183354 11 0 0.00 15 11 42.31 - - - LIFR-AS1 0 genome.wustl.edu 37 5 38557622 38557622 + RNA SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 38557622 38557622 G A SNP LIFR-AS1 ENST00000500733 human ensembl 69_37n +1 known rna NULL NULL 0.002 - - - no_errors LIFR-AS1 HGNC ENSG00000244968 31 0 0.00 21 15 41.67 - - - LILRB4 0 genome.wustl.edu 37 19 55174362 55174362 + RNA SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 19 55174362 55174362 G C SNP LILRB4 ENST00000494796 human ensembl 69_37n +1 known rna NULL NULL 0.006 - - - no_errors LILRB4 HGNC ENSG00000186818 21 0 0.00 11 10 47.62 - - - LMNB1 0 genome.wustl.edu 37 5 126172195 126172195 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 126172195 126172195 C T SNP LMNB1 ENST00000460265 human ensembl 69_37n +1 known rna NULL NULL 0.210 - - - no_errors LMNB1 HGNC ENSG00000113368 24 0 0.00 28 7 20.00 - - - LRRD1 0 genome.wustl.edu 37 7 91779971 91779971 + Missense_Mutation SNP T T G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 7 91779971 91779971 T G SNP LRRD1 ENST00000430130 human ensembl 69_37n -1 known missense c.2155 p.I719L 0.683 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_typical-subtyp,pfscan_Death - no_errors LRRD1 HGNC ENSG00000240720 35 0 0.00 26 4 13.33 - - - LYRM5 0 genome.wustl.edu 37 12 25357011 25357011 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 12 25357011 25357011 C G SNP LYRM5 ENST00000554266 human ensembl 69_37n +1 putative missense c.115 p.L39V 0.712 NULL NULL - no_errors LYRM5 HGNC ENSG00000205707 36 0 0.00 23 30 56.60 - - - MALT1 0 genome.wustl.edu 37 18 56377273 56377273 + Missense_Mutation SNP T T A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 18 56377273 56377273 T A SNP MALT1 ENST00000348428 human ensembl 69_37n +1 known missense c.894 p.S298R 1.000 smart_Ig_sub,pfscan_Ig-like pfam_Pept_C14_cat,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_DEATH-like,smart_Ig_sub,smart_Ig_sub2,pfscan_Pept_C14_ICE_p20,pfscan_Ig-like - no_errors MALT1 HGNC ENSG00000172175 18 0 0.00 23 9 28.12 - - - MARCH10 0 genome.wustl.edu 37 17 60821780 60821780 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 60821780 60821780 C T SNP MARCH10 ENST00000311269 human ensembl 69_37n -1 known silent c.492 p.Q164 0.997 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING-CH - no_errors MARCH10 HGNC ENSG00000173838 24 0 0.00 11 10 47.62 - - - MIR3144 0 genome.wustl.edu 37 6 120336327 120336327 + RNA SNP C C A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 120336327 120336327 C A SNP MIR3144 ENST00000579460 human ensembl 69_37n +1 known rna NULL NULL 0.224 - - - no_errors MIR3144 HGNC ENSG00000265725 25 0 0.00 33 4 10.81 - - - MIR3167 0 genome.wustl.edu 37 11 126858392 126858392 + RNA SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 126858392 126858392 A G SNP MIR3167 ENST00000579623 human ensembl 69_37n -1 known rna NULL NULL 0.083 - - - no_errors MIR3167 HGNC ENSG00000266215 37 0 0.00 34 5 12.82 - - - MLIP 0 genome.wustl.edu 37 6 54002231 54002231 + Missense_Mutation SNP A A C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 54002231 54002231 A C SNP MLIP ENST00000502396 human ensembl 69_37n +1 putative missense c.1364 p.E455A 0.002 NULL NULL - no_errors MLIP HGNC ENSG00000146147 16 0 0.00 30 6 16.67 - - - MLL5 0 genome.wustl.edu 37 7 104748202 104748202 + Nonsense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 7 104748202 104748202 C T SNP MLL5 ENST00000257745 human ensembl 69_37n +1 known nonsense c.3298 p.R1100* 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors MLL5 HGNC ENSG00000005483 50 0 0.00 32 11 25.58 - - - MORC1 0 genome.wustl.edu 37 3 108682297 108682297 + Silent SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 108682297 108682297 A G SNP MORC1 ENST00000232603 human ensembl 69_37n -1 known silent c.2763 p.R921 0.032 NULL pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW - no_errors MORC1 HGNC ENSG00000114487 50 0 0.00 49 11 18.33 - - - MPEG1 0 genome.wustl.edu 37 11 58979628 58979628 + Silent SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 58979628 58979628 G A SNP MPEG1 ENST00000361050 human ensembl 69_37n -1 known silent c.711 p.T237 0.001 pfam_MACPF,smart_MACPF pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 22 0 0.00 2 8 80.00 - - - MUC4 0 genome.wustl.edu 37 3 195509955 195509955 + Silent SNP A A C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 195509955 195509955 A C SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.8496 p.S2832 0.089 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 75 0 0.00 114 14 10.94 - - - MUC4 0 genome.wustl.edu 37 3 195513102 195513102 + Silent SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 195513102 195513102 A G SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.5349 p.S1783 0.011 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 52 0 0.00 94 12 11.32 - - - MUM1L1 0 genome.wustl.edu 37 X 105450896 105450896 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 X 105450896 105450896 G C SNP MUM1L1 ENST00000337685 human ensembl 69_37n +1 known missense c.1471 p.E491Q 1.000 NULL superfamily_PyrdxlP-dep_Trfase_major_dom - no_errors MUM1L1 HGNC ENSG00000157502 52 0 0.00 33 39 53.42 - - - MYH9 0 genome.wustl.edu 37 22 36705366 36705366 + Nonsense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 22 36705366 36705366 G A SNP MYH9 ENST00000216181 human ensembl 69_37n -1 known nonsense c.1804 p.Q602* 1.000 pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS - no_errors MYH9 HGNC ENSG00000100345 29 0 0.00 25 12 32.43 - - - NAMPT 0 genome.wustl.edu 37 7 105910666 105910666 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 7 105910666 105910666 C T SNP NAMPT ENST00000393618 human ensembl 69_37n -1 known rna NULL NULL 0.005 - - - no_errors NAMPT HGNC ENSG00000105835 42 0 0.00 22 3 12.00 - - - NRK 0 genome.wustl.edu 37 X 105153826 105153826 + Nonsense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 X 105153826 105153826 G A SNP NRK ENST00000428173 human ensembl 69_37n +1 known nonsense c.2196 p.W732* 1.000 NULL pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Citron,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom - no_errors NRK HGNC ENSG00000123572 43 0 0.00 25 18 41.86 - - - NXPE1 0 genome.wustl.edu 37 11 114401577 114401577 + Silent SNP T T C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 114401577 114401577 T C SNP NXPE1 ENST00000424269 human ensembl 69_37n -1 known silent c.153 p.A51 0.000 NULL superfamily_Ig_E-set - no_errors NXPE1 HGNC ENSG00000095110 37 0 0.00 36 7 16.28 - - - OPN1SW 0 genome.wustl.edu 37 7 128412693 128412693 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 7 128412693 128412693 C T SNP OPN1SW ENST00000249389 human ensembl 69_37n -1 known silent c.948 p.K316 1.000 pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,prints_Opsin_blue pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Opsin_blue,prints_7TM_GPCR_Rhodpsn,prints_Opsin - no_errors OPN1SW HGNC ENSG00000128617 37 0 0.00 27 14 34.15 - - - OR2T8 0 genome.wustl.edu 37 1 248085011 248085011 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 248085011 248085011 C G SNP OR2T8 ENST00000319968 human ensembl 69_37n +1 known missense c.692 p.A231G 0.131 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 20 0 0.00 24 5 17.24 - - - OR2W1 0 genome.wustl.edu 37 6 29012878 29012878 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 29012878 29012878 C T SNP OR2W1 ENST00000377175 human ensembl 69_37n -1 known missense c.75 p.M25I 0.002 NULL pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2W1 HGNC ENSG00000204704 32 0 0.00 33 15 31.25 - - - OR4N4 0 genome.wustl.edu 37 15 22383258 22383258 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 15 22383258 22383258 C G SNP OR4N4 ENST00000328795 human ensembl 69_37n +1 known missense c.786 p.F262L 0.020 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR4N4 HGNC ENSG00000183706 95 0 0.00 81 29 26.36 - - - PLCH1 0 genome.wustl.edu 37 3 155311860 155311860 + Missense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 155311860 155311860 G A SNP PLCH1 ENST00000340059 human ensembl 69_37n -1 known missense c.304 p.H102Y 1.000 smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCH1 HGNC ENSG00000114805 53 0 0.00 37 11 22.92 - - - PLEKHN1 0 genome.wustl.edu 37 1 907800 907800 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 907800 907800 C T SNP PLEKHN1 ENST00000379409 human ensembl 69_37n +1 known missense c.1154 p.S385L 0.007 NULL smart_Pleckstrin_homology - no_errors PLEKHN1 HGNC ENSG00000187583 17 0 0.00 18 7 28.00 - - - PRRG3 0 genome.wustl.edu 37 X 150868724 150868724 + Silent SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 X 150868724 150868724 A G SNP PRRG3 ENST00000370354 human ensembl 69_37n +1 known silent c.288 p.K96 0.001 NULL pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain - no_errors PRRG3 HGNC ENSG00000130032 47 0 0.00 40 5 11.11 - - - PRUNE2 0 genome.wustl.edu 37 9 79259592 79259592 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 79259592 79259592 C T SNP PRUNE2 ENST00000488346 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors PRUNE2 HGNC ENSG00000106772 31 0 0.00 42 7 14.29 - - - PTCH1 0 genome.wustl.edu 37 9 98209357 98209357 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 98209357 98209357 C T SNP PTCH1 ENST00000331920 human ensembl 69_37n -1 known missense c.4181 p.R1394Q 0.991 NULL pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched - no_errors PTCH1 HGNC ENSG00000185920 37 0 0.00 26 10 27.78 - - - RAB17 0 genome.wustl.edu 37 2 238483164 238483164 + Silent SNP T T C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 238483164 238483164 T C SNP RAB17 ENST00000409576 human ensembl 69_37n -1 putative silent c.75 p.P25 0.000 NULL NULL - no_errors RAB17 HGNC ENSG00000124839 36 0 0.00 33 4 10.81 - - - REL 0 genome.wustl.edu 37 2 61128216 61128216 + Missense_Mutation SNP A A G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 61128216 61128216 A G SNP REL ENST00000295025 human ensembl 69_37n +1 known missense c.392 p.N131S 1.000 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor - no_errors REL HGNC ENSG00000162924 23 0 0.00 13 11 45.83 - - - RFX8 0 genome.wustl.edu 37 2 102014165 102014165 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 102014165 102014165 C G SNP RFX8 ENST00000376826 human ensembl 69_37n -1 known missense c.1606 p.D536H 1.000 NULL pfam_DNA-bd_RFX - no_errors RFX8 HGNC ENSG00000196460 46 0 0.00 37 19 33.93 - - - RGS18 0 genome.wustl.edu 37 1 192150504 192150504 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 192150504 192150504 C T SNP RGS18 ENST00000367460 human ensembl 69_37n +1 known silent c.366 p.F122 1.000 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal - no_errors RGS18 HGNC ENSG00000150681 84 0 0.00 79 28 26.17 - - - RNASEL 0 genome.wustl.edu 37 1 182551306 182551306 + Nonsense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 182551306 182551306 G A SNP RNASEL ENST00000367559 human ensembl 69_37n -1 known nonsense c.1654 p.Q552* 0.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom pfam_Ankyrin_rpt,pfam_KEN_RNase_activator,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ankyrin_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_PUG-dom,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom - no_errors RNASEL HGNC ENSG00000135828 31 0 0.00 28 12 30.00 - - - RRP7B 0 genome.wustl.edu 37 22 42952207 42952207 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 22 42952207 42952207 C T SNP RRP7B ENST00000357802 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors RRP7B HGNC ENSG00000182841 34 0 0.00 16 4 20.00 - - - RRP7B 0 genome.wustl.edu 37 22 42970736 42970736 + RNA SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 22 42970736 42970736 G A SNP RRP7B ENST00000357802 human ensembl 69_37n -1 known rna NULL NULL 0.001 - - - no_errors RRP7B HGNC ENSG00000182841 60 0 0.00 36 6 14.29 - - - RTEL1 0 genome.wustl.edu 37 20 62303913 62303913 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 20 62303913 62303913 G T SNP RTEL1 ENST00000318100 human ensembl 69_37n +1 known missense c.704 p.R235L 1.000 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3 pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors RTEL1 HGNC ENSG00000258366 34 0 0.00 26 4 13.33 - - - RUNX3 0 genome.wustl.edu 37 1 25256116 25256116 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 25256116 25256116 G T SNP RUNX3 ENST00000338888 human ensembl 69_37n -1 known missense c.286 p.H96N 1.000 pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N - no_errors RUNX3 HGNC ENSG00000020633 26 0 0.00 6 3 33.33 - - - SARDH 0 genome.wustl.edu 37 9 136559429 136559429 + Missense_Mutation SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 9 136559429 136559429 G T SNP SARDH ENST00000371872 human ensembl 69_37n -1 known missense c.1872 p.S624R 0.990 pfam_GCV_T_N pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C - no_errors SARDH HGNC ENSG00000123453 93 0 0.00 65 36 35.64 - - - SIGLEC6 0 genome.wustl.edu 37 19 52033094 52033094 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 19 52033094 52033094 G C SNP SIGLEC6 ENST00000425629 human ensembl 69_37n -1 known missense c.896 p.S299C 0.001 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like - no_errors SIGLEC6 HGNC ENSG00000105492 29 0 0.00 17 10 37.04 - - - SLC25A28 0 genome.wustl.edu 37 10 101373387 101373387 + RNA SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 10 101373387 101373387 G T SNP SLC25A28 ENST00000479722 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors SLC25A28 HGNC ENSG00000155287 26 0 0.00 29 4 12.12 - - - SLC4A11 0 genome.wustl.edu 37 20 3218634 3218634 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 20 3218634 3218634 G C SNP SLC4A11 ENST00000380059 human ensembl 69_37n -1 known missense c.77 p.P26R 0.000 NULL pfam_HCO3_transpt_C,pfam_PTS_EIIA_2,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk - no_errors SLC4A11 HGNC ENSG00000088836 47 0 0.00 48 8 14.04 - - - SNHG14 0 genome.wustl.edu 37 15 25417703 25417703 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 15 25417703 25417703 C T SNP SNHG14 ENST00000549301 human ensembl 69_37n +1 known rna NULL NULL 0.000 - - - no_errors SNHG14 HGNC ENSG00000224078 21 0 0.00 20 11 35.48 - - - SPOCK1 0 genome.wustl.edu 37 5 136315033 136315033 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 136315033 136315033 C T SNP SPOCK1 ENST00000282223 human ensembl 69_37n -1 known missense c.1117 p.A373T 0.062 pfam_Thyroglobulin_1,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1 - no_errors SPOCK1 HGNC ENSG00000152377 30 0 0.00 22 4 15.38 - - - SRCAP 0 genome.wustl.edu 37 16 30727792 30727792 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 16 30727792 30727792 C T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.2809 p.P937S 1.000 NULL pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,smart_AT_hook_DNA-bd_motif,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_AT_hook-like - no_errors SRCAP HGNC ENSG00000080603 35 0 0.00 31 4 11.43 - - - SRSF11 0 genome.wustl.edu 37 1 70694186 70694186 + Silent SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 70694186 70694186 G A SNP SRSF11 ENST00000370950 human ensembl 69_37n +1 known silent c.285 p.L95 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors SRSF11 HGNC ENSG00000116754 64 0 0.00 38 24 38.10 - - - STAT1 0 genome.wustl.edu 37 2 191863009 191863009 + Missense_Mutation SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 2 191863009 191863009 C G SNP STAT1 ENST00000361099 human ensembl 69_37n -1 known missense c.567 p.K189N 0.253 pfam_STAT_TF_alpha,superfamily_STAT_TF_coiled-coil pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT1_TAZ2-bd_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,pfscan_SH2 - no_errors STAT1 HGNC ENSG00000115415 37 0 0.00 22 20 47.62 - - - SULT1A1 0 genome.wustl.edu 37 16 28617552 28617552 + Silent SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 16 28617552 28617552 C G SNP SULT1A1 ENST00000314752 human ensembl 69_37n -1 known silent c.600 p.P200 0.986 pfam_Sulfotransferase_dom pfam_Sulfotransferase_dom - no_errors SULT1A1 HGNC ENSG00000196502 35 0 0.00 31 6 16.22 - - - SYN2 0 genome.wustl.edu 37 3 12224979 12224979 + RNA SNP G G T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 3 12224979 12224979 G T SNP SYN2 ENST00000425297 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors SYN2 HGNC ENSG00000157152 34 0 0.00 45 19 29.69 - - - TAF4B 0 genome.wustl.edu 37 18 23901109 23901109 + Missense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 18 23901109 23901109 G A SNP TAF4B ENST00000269142 human ensembl 69_37n +1 known missense c.2078 p.R693Q 1.000 pfam_TAF4,superfamily_Histone-fold pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1 - no_errors TAF4B HGNC ENSG00000141384 11 0 0.00 17 6 26.09 - - - TBC1D3P2 0 genome.wustl.edu 37 17 60351416 60351416 + RNA SNP T T A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 60351416 60351416 T A SNP TBC1D3P2 ENST00000339120 human ensembl 69_37n -1 known rna NULL NULL 0.114 - - - no_errors TBC1D3P2 HGNC ENSG00000188755 133 0 0.00 87 45 33.83 - - - TBC1D9B 0 genome.wustl.edu 37 5 179290741 179290741 + Missense_Mutation SNP T T C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 179290741 179290741 T C SNP TBC1D9B ENST00000356834 human ensembl 69_37n -1 known missense c.3460 p.M1154V 1.000 NULL 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 TBC1D9B HGNC ENSG00000197226 22 0 0.00 16 9 36.00 - - - TCP10L2 0 genome.wustl.edu 37 6 167591956 167591956 + Nonsense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 167591956 167591956 C T SNP TCP10L2 ENST00000283507 human ensembl 69_37n +1 known nonsense c.583 p.Q195* 0.005 NULL NULL - no_errors TCP10L2 HGNC ENSG00000166984 72 0 0.00 37 7 15.91 - - - TFAP2A 0 genome.wustl.edu 37 6 10415192 10415192 + Silent SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 10415192 10415192 G A SNP TFAP2A ENST00000379604 human ensembl 69_37n -1 known silent c.27 p.I9 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_C,prints_TF_AP2_alpha_N - no_errors TFAP2A HGNC ENSG00000137203 27 0 0.00 16 7 30.43 - - - TLN2 0 genome.wustl.edu 37 15 63032864 63032864 + Silent SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 15 63032864 63032864 C G SNP TLN2 ENST00000306829 human ensembl 69_37n +1 known silent c.3921 p.L1307 1.000 superfamily_Vinculin/catenin pfam_Talin_cent,pfam_ILWEQ,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ,pfscan_FERM_domain,pfscan_ILWEQ - no_errors TLN2 HGNC ENSG00000171914 47 0 0.00 39 22 36.07 - - - TMEM216 0 genome.wustl.edu 37 11 61165731 61165732 + Splice_Site INS - - A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 11 61165731 61165732 0 A INS TMEM216 ENST00000334888 human ensembl 69_37n +1 known splice_site_ins c.432-2_432-1 e5-1 0.960:1.000 - - - no_errors TMEM216 HGNC ENSG00000187049 10 0 0 1 15 93.75 - - - TMEM232 0 genome.wustl.edu 37 5 109961091 109961091 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 109961091 109961091 G C SNP TMEM232 ENST00000429839 human ensembl 69_37n -1 known missense c.645 p.I215M 1.000 NULL NULL - no_errors TMEM232 HGNC ENSG00000186952 28 0 0.00 25 15 37.50 - - - TYK2 0 genome.wustl.edu 37 19 10467350 10467350 + Silent SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 19 10467350 10467350 G A SNP TYK2 ENST00000264818 human ensembl 69_37n -1 known silent c.2511 p.S837 0.019 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,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 85 0 0.00 59 26 30.59 - - - UNC5A 0 genome.wustl.edu 37 5 176295946 176295946 + Missense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 5 176295946 176295946 C T SNP UNC5A ENST00000509580 human ensembl 69_37n +1 novel missense c.598 p.R200C 0.104 pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,smart_Ig_sub,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region UNC5A HGNC ENSG00000113763 45 0 0.00 19 10 34.48 - - - USP32P2 0 genome.wustl.edu 37 17 18420698 18420698 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 17 18420698 18420698 C T SNP USP32P2 ENST00000412260 human ensembl 69_37n -1 known rna NULL NULL 0.995 - - - no_errors USP32P2 HGNC ENSG00000233327 47 0 0.00 14 43 74.14 - - - USP7 0 genome.wustl.edu 37 16 8996318 8996318 + Nonsense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 16 8996318 8996318 G A SNP USP7 ENST00000344836 human ensembl 69_37n -1 known nonsense c.1861 p.R621* 1.000 NULL pfam_Peptidase_C19,pfam_MATH,pfam_Pept_C19_dom,superfamily_TRAF-like,smart_MATH,pfscan_MATH,pfscan_Peptidase_C19 - no_errors USP7 HGNC ENSG00000187555 24 0 0.00 16 8 33.33 - - - ZBTB33 0 genome.wustl.edu 37 X 119388921 119388921 + Nonsense_Mutation SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 X 119388921 119388921 C T SNP ZBTB33 ENST00000326624 human ensembl 69_37n +1 known nonsense c.1651 p.Q551* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB33 HGNC ENSG00000177485 61 0 0.00 45 21 31.82 - - - ZFP161 0 genome.wustl.edu 37 18 5291276 5291276 + Missense_Mutation SNP T T C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 18 5291276 5291276 T C SNP ZFP161 ENST00000357006 human ensembl 69_37n -1 known missense c.931 p.T311A 0.965 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZFP161 HGNC ENSG00000198081 93 0 0.00 59 30 33.71 - - - ZNF397 0 genome.wustl.edu 37 18 32825849 32825849 + Missense_Mutation SNP G G A TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 18 32825849 32825849 G A SNP ZNF397 ENST00000330501 human ensembl 69_37n +1 known missense c.1180 p.E394K 1.000 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZNF397 HGNC ENSG00000186812 33 0 0.00 15 12 44.44 - - - ZNF469 0 genome.wustl.edu 37 16 88502482 88502482 + Silent SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 16 88502482 88502482 C T SNP ZNF469 ENST00000437464 human ensembl 69_37n +1 known silent c.8520 p.R2840 0.149 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF469 HGNC ENSG00000225614 68 0 0.00 35 6 14.63 - - - ZNF687 0 genome.wustl.edu 37 1 151260644 151260644 + Missense_Mutation SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 1 151260644 151260644 G C SNP ZNF687 ENST00000324048 human ensembl 69_37n +1 known missense c.1877 p.G626A 0.131 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF687 HGNC ENSG00000143373 50 0 0.00 43 17 28.33 - - - ZNF705B 0 genome.wustl.edu 37 8 7808219 7808219 + Missense_Mutation SNP A A T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 8 7808219 7808219 A T SNP ZNF705B ENST00000400120 human ensembl 69_37n +1 known missense c.268 p.I90L 0.000 NULL pfam_Krueppel-associated_box,pfam_Znf_C2H2,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF705B HGNC ENSG00000215356 87 0 0.00 19 4 17.39 - - - ZNF777 0 genome.wustl.edu 37 7 149152835 149152835 + Silent SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 7 149152835 149152835 G C SNP ZNF777 ENST00000247930 human ensembl 69_37n -1 known silent c.279 p.L93 0.331 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_DUF3669_Znf,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF777 HGNC ENSG00000196453 20 0 0.00 11 14 56.00 - - - ZNF799 0 genome.wustl.edu 37 19 12501313 12501313 + Silent SNP G G C TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 19 12501313 12501313 G C SNP ZNF799 ENST00000430385 human ensembl 69_37n -1 known silent c.1899 p.L633 0.008 smart_Znf_C2H2-like,pfscan_Znf_C2H2 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 ZNF799 HGNC ENSG00000196466 67 0 0.00 37 31 45.59 - - - ZNRD1-AS1 0 genome.wustl.edu 37 6 30025285 30025285 + RNA SNP C C T TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 30025285 30025285 C T SNP ZNRD1-AS1 ENST00000421692 human ensembl 69_37n -1 known rna NULL NULL 0.009 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 40 0 0.00 70 10 12.50 - - - ZNRD1-AS1 0 genome.wustl.edu 37 6 30029109 30029109 + RNA SNP C C G TCGA-A7-A3IZ-01A-11D-A20S-09 TCGA-A7-A3IZ-10A-01D-A20S-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 6b27faf2-1488-45a4-b1ff-fec511f1fb58 46160082-58d4-47f5-a49a-505ca987fd79 6 30029109 30029109 C G SNP ZNRD1-AS1 ENST00000437417 human ensembl 69_37n -1 known rna NULL NULL 0.000 - - - no_errors ZNRD1-AS1 HGNC ENSG00000204623 18 0 0.00 12 4 25.00 - - -