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 ABCC2 0 genome.wustl.edu 37 10 101591523 101591523 + Silent SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 10 101591523 101591523 C T SNP ABCC2 ENST00000370449 human ensembl 69_37n +1 known silent c.3039 p.T1013 0.000 pfam_ABC_transptr_TM_dom,superfamily_ABC_transptrTM_dom_typ1,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1,tigrfam_Multidrug-R_assoc - no_errors ABCC2 HGNC ENSG00000023839 133 0 0.00 67 44 39.64 - - - ATP6V1A 0 genome.wustl.edu 37 3 113507649 113507649 + Missense_Mutation SNP G G C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 3 113507649 113507649 G C SNP ATP6V1A ENST00000273398 human ensembl 69_37n +1 known missense c.806 p.S269T 1.000 pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,tigrfam_ATPase_V1-cplx_asu pfam_ATPase_F1/V1/A1_a/bsu_nucl-bd,pfam_ATPase_F1/V1/A1-cplx_a/bsu_C,pfam_ATPase_F1/V1/A1-cplx_a/bsu_N,superfamily_ATPase_F1/V1/A1-cplx_a/bsu_C,superfamily_ATPase_F1/A1-cplx_a/bsu_N,tigrfam_ATPase_V1-cplx_asu - no_errors ATP6V1A HGNC ENSG00000114573 218 0 0.00 105 17 13.93 - - - ATXN7 0 genome.wustl.edu 37 3 63965739 63965739 + Silent SNP A A C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 3 63965739 63965739 A C SNP ATXN7 ENST00000398590 human ensembl 69_37n +1 known silent c.648 p.S216 0.034 NULL pfam_SCA7_dom - no_errors ATXN7 HGNC ENSG00000163635 136 0 0.00 35 14 28.57 - - - BACE1 0 genome.wustl.edu 37 11 117164599 117164599 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 117164599 117164599 G A SNP BACE1 ENST00000504995 human ensembl 69_37n -1 putative missense c.481 p.R161W 0.102 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE1 pfam_Peptidase_A1,superfamily_Peptidase_aspartic,prints_Pept_A1_BACE1,prints_Pept_A1_BACE - pseudogene:no_stop_codon:bad_bp_length_for_coding_region BACE1 HGNC ENSG00000186318 99 0 0.00 24 35 59.32 - - - BCL2L13 0 genome.wustl.edu 37 22 18185061 18185061 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 22 18185061 18185061 G A SNP BCL2L13 ENST00000317582 human ensembl 69_37n +1 known missense c.509 p.R170H 0.953 pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis pfam_Bcl2_BH,pfscan_Bcl2-like_apoptosis - no_errors BCL2L13 HGNC ENSG00000099968 158 0 0.00 36 39 52.00 - - - C20orf132 0 genome.wustl.edu 37 20 35788533 35788533 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 20 35788533 35788533 C T SNP C20orf132 ENST00000400441 human ensembl 69_37n -1 known missense c.695 p.R232H 0.996 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors C20orf132 HGNC ENSG00000101353 67 0 0.00 38 13 25.49 - - - CASK 0 genome.wustl.edu 37 X 41419042 41419042 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 X 41419042 41419042 G A SNP CASK ENST00000378163 human ensembl 69_37n -1 known missense c.1727 p.S576L 0.998 superfamily_SH3_domain,superfamily_PDZ pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin - no_errors CASK HGNC ENSG00000147044 182 0 0.00 78 47 37.60 - - - CECR5 0 genome.wustl.edu 37 22 17623996 17623996 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 22 17623996 17623996 C T SNP CECR5 ENST00000336737 human ensembl 69_37n -1 known missense c.563 p.R188H 0.964 superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IIA_CECR5,tigrfam_HAD-SF_hydro_IIA - no_errors CECR5 HGNC ENSG00000069998 89 0 0.00 14 26 63.41 - - - DNAH10 0 genome.wustl.edu 37 12 124414242 124414242 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 12 124414242 124414242 C T SNP DNAH10 ENST00000409039 human ensembl 69_37n +1 known missense c.12194 p.T4065M 0.997 pfam_Dynein_heavy pfam_Dynein_heavy,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,superfamily_PyrdxlP-dep_Trfase_major_dom,smart_AAA+_ATPase - no_errors DNAH10 HGNC ENSG00000197653 111 0 0.00 42 12 22.22 - - - GAB1 0 genome.wustl.edu 37 4 144380559 144380559 + Missense_Mutation SNP T T C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 4 144380559 144380559 T C SNP GAB1 ENST00000262995 human ensembl 69_37n +1 known missense c.1697 p.I566T 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors GAB1 HGNC ENSG00000109458 196 0 0.00 207 32 13.39 - - - GET4 0 genome.wustl.edu 37 7 930646 930646 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 7 930646 930646 C T SNP GET4 ENST00000265857 human ensembl 69_37n +1 known missense c.548 p.S183F 1.000 pfam_UPF0363 pfam_UPF0363 - no_errors GET4 HGNC ENSG00000239857 157 0 0.00 41 12 22.64 - - - GPC6 0 genome.wustl.edu 37 13 93879855 93879855 + Missense_Mutation SNP A A T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 13 93879855 93879855 A T SNP GPC6 ENST00000377047 human ensembl 69_37n +1 known missense c.146 p.Y49F 1.000 pfam_Glypican pfam_Glypican - no_errors GPC6 HGNC ENSG00000183098 60 0 0.00 14 19 57.58 - - - GRIA3 0 genome.wustl.edu 37 X 122536950 122536950 + Splice_Site SNP G G C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 X 122536950 122536950 G C SNP GRIA3 ENST00000264357 human ensembl 69_37n +1 known splice_site c.1185+1 e8+1 1.000 - - - no_errors GRIA3 HGNC ENSG00000125675 162 0 0.00 116 25 17.73 - - - GRM7 0 genome.wustl.edu 37 3 7728066 7728066 + Missense_Mutation SNP G G C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 3 7728066 7728066 G C SNP GRM7 ENST00000402647 human ensembl 69_37n +1 known missense c.2721 p.K907N 1.000 NULL pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 137 0 0.00 118 17 12.59 - - - GUCY1A2 0 genome.wustl.edu 37 11 106810893 106810893 + Nonsense_Mutation SNP C C A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 106810893 106810893 C A SNP GUCY1A2 ENST00000282249 human ensembl 69_37n -1 known nonsense c.499 p.E167* 1.000 pfam_Heme_NO-bd,superfamily_NO_sig/Golgi_transp_ligand-bd pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase - no_errors GUCY1A2 HGNC ENSG00000152402 17 0 0.00 12 5 29.41 - - - INPP4B 0 genome.wustl.edu 37 4 143094874 143094874 + Missense_Mutation SNP T T G TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 4 143094874 143094874 T G SNP INPP4B ENST00000509777 human ensembl 69_37n -1 known missense c.1270 p.I424L 0.997 NULL superfamily_C2_Ca/lipid-bd_dom_CaLB - no_errors INPP4B HGNC ENSG00000109452 584 0 0.00 268 50 15.72 - - - LECT1 0 genome.wustl.edu 37 13 53298164 53298164 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 13 53298164 53298164 C T SNP LECT1 ENST00000377962 human ensembl 69_37n -1 known missense c.436 p.A146T 0.732 pfam_BRICHOS_dom,pfscan_BRICHOS_dom pfam_BRICHOS_dom,pfscan_BRICHOS_dom - no_errors LECT1 HGNC ENSG00000136110 122 0 0.00 41 19 31.67 - - - MAGEB16 0 genome.wustl.edu 37 X 35820494 35820494 + Missense_Mutation SNP C C A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 X 35820494 35820494 C A SNP MAGEB16 ENST00000399992 human ensembl 69_37n +1 known missense c.277 p.P93T 0.000 pfam_Melanoma_ass_antigen_N pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB16 HGNC ENSG00000189023 124 1 0.80 49 44 47.31 - - - MAP7D2 0 genome.wustl.edu 37 X 20070998 20070998 + Missense_Mutation SNP C C G TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 X 20070998 20070998 C G SNP MAP7D2 ENST00000379643 human ensembl 69_37n -1 known missense c.593 p.R198P 1.000 NULL pfam_E-MAP-115 - no_errors MAP7D2 HGNC ENSG00000184368 248 0 0.00 155 22 12.43 - - - MAX 0 genome.wustl.edu 37 14 65569045 65569045 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 14 65569045 65569045 C T SNP MAX ENST00000358664 human ensembl 69_37n -1 known missense c.13 p.D5N 1.000 NULL pfam_HLH_DNA-bd,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd - no_errors MAX HGNC ENSG00000125952 61 0 0.00 7 13 65.00 - - - MLL3 0 genome.wustl.edu 37 7 151945659 151945660 + Frame_Shift_Ins INS - - T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 7 151945659 151945660 - T INS MLL3 ENST00000355193 human ensembl 69_37n -1 known frame_shift_ins c.1860_1859 p.N621fs 0.365:0.435 NULL pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING - no_errors MLL3 HGNC ENSG00000055609 35 0 0.00 21 29 58.00 - - - MRTO4 0 genome.wustl.edu 37 1 19584466 19584466 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 1 19584466 19584466 G A SNP MRTO4 ENST00000330263 human ensembl 69_37n +1 known missense c.481 p.A161T 0.898 NULL pfam_Ribosomal_L10/acidic_P0 - no_errors MRTO4 HGNC ENSG00000053372 34 0 0.00 6 10 62.50 - - - MSN 0 genome.wustl.edu 37 X 64957138 64957138 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 X 64957138 64957138 G A SNP MSN ENST00000360270 human ensembl 69_37n +1 known missense c.1189 p.E397K 1.000 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 54 0 0.00 23 12 34.29 - - - NID1 0 genome.wustl.edu 37 1 236192956 236192956 + Silent SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 1 236192956 236192956 C T SNP NID1 ENST00000264187 human ensembl 69_37n -1 known silent c.1632 p.G544 0.789 pfam_G2_nidogen/fibulin_G2F,superfamily_Green_fluorescent_prot-like,smart_G2_nidogen/fibulin_G2F,pfscan_G2_nidogen/fibulin_G2F pfam_G2_nidogen/fibulin_G2F,pfam_LDLR_classB_rpt,pfam_Nidogen_extracell_dom,pfam_Thyroglobulin_1,pfam_EGF-like_Ca-bd,superfamily_Green_fluorescent_prot-like,superfamily_Thyroglobulin_1,smart_Nidogen_extracell_dom,smart_EGF-like_Ca-bd,smart_EGF-like,smart_G2_nidogen/fibulin_G2F,smart_Thyroglobulin_1,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDLR_classB_rpt,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thyroglobulin_1 - no_errors NID1 HGNC ENSG00000116962 31 0 0.00 4 5 55.56 - - - NLRP7 0 genome.wustl.edu 37 19 55449557 55449557 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 19 55449557 55449557 G A SNP NLRP7 ENST00000446217 human ensembl 69_37n -1 known missense c.2068 p.R690C 0.000 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP7 HGNC ENSG00000167634 68 0 0.00 9 24 72.73 - - - NLRP9 0 genome.wustl.edu 37 19 56243942 56243942 + Missense_Mutation SNP C C A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 19 56243942 56243942 C A SNP NLRP9 ENST00000332836 human ensembl 69_37n -1 known missense c.1255 p.G419W 0.006 NULL pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN - no_errors NLRP9 HGNC ENSG00000185792 133 0 0.00 52 12 18.75 - - - NPAS4 0 genome.wustl.edu 37 11 66189989 66189989 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 66189989 66189989 G A SNP NPAS4 ENST00000311034 human ensembl 69_37n +1 known missense c.395 p.R132H 1.000 smart_PAS,pfscan_PAS pfam_PAS_fold_3,smart_PAS,pfscan_PAS - no_errors NPAS4 HGNC ENSG00000174576 178 1 0.56 39 26 40.00 - - - NUP160 0 genome.wustl.edu 37 11 47833684 47833684 + Missense_Mutation SNP T T G TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 47833684 47833684 T G SNP NUP160 ENST00000378460 human ensembl 69_37n -1 known missense c.2173 p.S725R 0.993 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 232 0 0.00 72 52 41.94 - - - ODF2 0 genome.wustl.edu 37 9 131246313 131246313 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 9 131246313 131246313 C T SNP ODF2 ENST00000372796 human ensembl 69_37n +1 known missense c.1084 p.R362C 1.000 NULL NULL - no_errors ODF2 HGNC ENSG00000136811 91 0 0.00 31 8 20.00 - - - OFD1 0 genome.wustl.edu 37 X 13778585 13778585 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 X 13778585 13778585 G A SNP OFD1 ENST00000340096 human ensembl 69_37n +1 known missense c.2006 p.S669N 0.001 NULL superfamily_Lipoprotein_6,smart_LisH_dimerisation,pfscan_LisH_dimerisation - no_errors OFD1 HGNC ENSG00000046651 86 0 0.00 39 32 45.07 - - - OPLAH 0 genome.wustl.edu 37 8 145107769 145107769 + RNA SNP G G C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 8 145107769 145107769 G C SNP OPLAH ENST00000426825 human ensembl 69_37n -1 known rna NULL NULL 0.505 - - - no_errors OPLAH HGNC ENSG00000178814 37 0 0.00 38 8 17.39 - - - OR2J1 0 genome.wustl.edu 37 6 29069038 29069038 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 6 29069038 29069038 G A SNP OR2J1 ENST00000377171 human ensembl 69_37n +1 known missense c.319 p.A107T 0.002 pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR2J1 HGNC ENSG00000204702 96 0 0.00 104 15 12.61 - - - OR5D13 0 genome.wustl.edu 37 11 55541605 55541605 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 55541605 55541605 G A SNP OR5D13 ENST00000361760 human ensembl 69_37n +1 known missense c.692 p.R231Q 0.000 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 OR5D13 HGNC ENSG00000198877 194 0 0.00 78 45 36.59 - - - OR7G2 0 genome.wustl.edu 37 19 9213395 9213395 + Silent SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 19 9213395 9213395 C T SNP OR7G2 ENST00000305456 human ensembl 69_37n -1 known silent c.588 p.P196 0.000 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 OR7G2 HGNC ENSG00000170923 101 0 0.00 55 12 17.65 - - - PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 120 0 0.00 39 64 61.54 - - - PLD2 0 genome.wustl.edu 37 17 4722079 4722079 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 17 4722079 4722079 C T SNP PLD2 ENST00000263088 human ensembl 69_37n +1 known missense c.2134 p.R712C 1.000 pirsf_PLipase_D_euk pfam_Phox,pfam_PLipase_D/transphosphatidylase,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pirsf_PLipase_D_euk,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase - no_errors PLD2 HGNC ENSG00000129219 173 0 0.00 33 63 65.62 - - - RGS10 0 genome.wustl.edu 37 10 121275051 121275051 + Missense_Mutation SNP G G C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 10 121275051 121275051 G C SNP RGS10 ENST00000369103 human ensembl 69_37n -1 known missense c.369 p.H123Q 0.998 pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_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 RGS10 HGNC ENSG00000148908 257 0 0.00 98 25 20.16 - - - RHOXF2 0 genome.wustl.edu 37 X 119293026 119293026 + Nonsense_Mutation SNP C C A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 X 119293026 119293026 C A SNP RHOXF2 ENST00000371388 human ensembl 69_37n +1 known nonsense c.185 p.S62* 0.000 NULL pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain - no_errors RHOXF2 HGNC ENSG00000131721 88 0 0.00 27 23 46.00 - - - RRP7B 0 genome.wustl.edu 37 22 42973961 42973961 + RNA SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 22 42973961 42973961 C T SNP RRP7B ENST00000357802 human ensembl 69_37n -1 known rna NULL NULL 0.631 - - - no_errors RRP7B HGNC ENSG00000182841 20 0 0.00 1 6 85.71 - - - RUSC1 0 genome.wustl.edu 37 1 155295350 155295350 + RNA SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 1 155295350 155295350 G A SNP RUSC1 ENST00000473331 human ensembl 69_37n +1 known rna NULL NULL 0.022 - - - no_errors RUSC1 HGNC ENSG00000160753 63 0 0.00 29 12 29.27 - - - SGCZ 0 genome.wustl.edu 37 8 14412342 14412342 + Nonsense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 8 14412342 14412342 G A SNP SGCZ ENST00000382080 human ensembl 69_37n -1 known nonsense c.133 p.R45* 1.000 pfam_Sarcoglycan pfam_Sarcoglycan - no_errors SGCZ HGNC ENSG00000185053 314 0 0.00 51 71 58.20 - - - SLAMF7 0 genome.wustl.edu 37 1 160718252 160718252 + Nonsense_Mutation SNP C C A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 1 160718252 160718252 C A SNP SLAMF7 ENST00000368043 human ensembl 69_37n +1 known nonsense c.324 p.Y108* 0.004 pfam_Ig_V-set pfam_Ig_V-set,pfscan_Ig-like - no_errors SLAMF7 HGNC ENSG00000026751 96 0 0.00 56 9 13.85 - - - SPTBN1 0 genome.wustl.edu 37 2 54753679 54753679 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 2 54753679 54753679 C T SNP SPTBN1 ENST00000356805 human ensembl 69_37n +1 known missense c.124 p.R42W 1.000 pirsf_Spectrin_bsu,superfamily_CH-domain pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology - no_errors SPTBN1 HGNC ENSG00000115306 97 0 0.00 42 17 28.81 - - - TMC7 0 genome.wustl.edu 37 16 19063095 19063095 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 16 19063095 19063095 G A SNP TMC7 ENST00000304381 human ensembl 69_37n +1 known missense c.1828 p.G610R 1.000 NULL pfam_TMC - no_errors TMC7 HGNC ENSG00000170537 309 0 0.00 157 32 16.93 - - - TMPRSS4 0 genome.wustl.edu 37 11 117988053 117988053 + Missense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 117988053 117988053 G A SNP TMPRSS4 ENST00000437212 human ensembl 69_37n +1 known missense c.1186 p.D396N 0.340 pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6 pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,pfam_LDrepeatLR_classA_rpt,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Srcr_rcpt-rel,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Srcr_rcpt-rel,smart_Peptidase_S1_S6,pfscan_Srcr_rcpt,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A - no_errors TMPRSS4 HGNC ENSG00000137648 162 0 0.00 147 58 28.29 - - - TP53 0 genome.wustl.edu 37 17 7577517 7577517 + Missense_Mutation SNP A A C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 17 7577517 7577517 A C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.764 p.I255S 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 146 0 0.00 10 30 75.00 - - - TTN 0 genome.wustl.edu 37 2 179452261 179452261 + Missense_Mutation SNP C C G TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 2 179452261 179452261 C G SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.56071 p.V18691L 1.000 pfam_Ig_I-set,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like - no_errors TTN HGNC ENSG00000155657 152 0 0.00 64 29 31.18 - - - VPS36 0 genome.wustl.edu 37 13 52990193 52990193 + Silent SNP A A G TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 13 52990193 52990193 A G SNP VPS36 ENST00000378060 human ensembl 69_37n -1 known silent c.1026 p.F342 1.000 pfam_EAP30 pfam_EAP30,pfam_VPS36_GLUE - no_errors VPS36 HGNC ENSG00000136100 128 0 0.00 64 17 20.99 - - - VWF 0 genome.wustl.edu 37 12 6230460 6230460 + Nonsense_Mutation SNP G G A TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 12 6230460 6230460 G A SNP VWF ENST00000261405 human ensembl 69_37n -1 known nonsense c.100 p.R34* 0.642 pirsf_VWF,smart_VWF_type-D pirsf_VWF,pfam_VWF_type-D,pfam_VWF_A,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_VWF_A,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_A,pfscan_VWF_C - no_errors VWF HGNC ENSG00000110799 93 0 0.00 12 26 68.42 - - - WDFY4 0 genome.wustl.edu 37 10 50165257 50165257 + Missense_Mutation SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 10 50165257 50165257 C T SNP WDFY4 ENST00000312002 human ensembl 69_37n +1 known missense c.5332 p.R1778C 0.421 pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region WDFY4 HGNC ENSG00000128815 115 0 0.00 43 6 12.24 - - - ZFC3H1 0 genome.wustl.edu 37 12 72027055 72027055 + Missense_Mutation SNP G G C TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 12 72027055 72027055 G C SNP ZFC3H1 ENST00000378743 human ensembl 69_37n -1 known missense c.2674 p.L892V 1.000 NULL pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom - no_errors ZFC3H1 HGNC ENSG00000133858 101 0 0.00 150 18 10.71 - - - ZP1 0 genome.wustl.edu 37 11 60637860 60637860 + Silent SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 60637860 60637860 C T SNP ZP1 ENST00000278853 human ensembl 69_37n +1 known silent c.738 p.I246 0.000 superfamily_P_trefoil,smart_P_trefoil pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP1 HGNC ENSG00000149506 82 0 0.00 25 9 26.47 - - - ZP1 0 genome.wustl.edu 37 11 60640695 60640695 + Silent SNP C C T TCGA-A2-A0YT-01A-11D-A10G-09 TCGA-A2-A0YT-10A-01D-A10G-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 827c6a2f-fb1b-4845-9cb1-11013a16da3f 75eb756e-e38e-4f94-867e-b4eabdf71c79 11 60640695 60640695 C T SNP ZP1 ENST00000278853 human ensembl 69_37n +1 known silent c.1173 p.F391 0.012 pfam_Zona_pellucida_Endoglin/CD105,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 pfam_Zona_pellucida_Endoglin/CD105,superfamily_P_trefoil,smart_P_trefoil,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105,prints_Endoglin/CD105_subgr - no_errors ZP1 HGNC ENSG00000149506 113 0 0.00 42 33 44.00 - - -