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 ABCA10 0 genome.wustl.edu 37 17 67212118 67212118 + Missense_Mutation SNP A A T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 17 67212118 67212118 A T SNP ABCA10 ENST00000269081 human ensembl 69_37n -1 known missense c.696 p.S232R 0.008 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA10 HGNC ENSG00000154263 61 0 0.00 63 15 19.23 - - - ABCA13 0 genome.wustl.edu 37 7 48545981 48545981 + Nonsense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 48545981 48545981 C T SNP ABCA13 ENST00000453246 human ensembl 69_37n +1 known nonsense c.2137 p.Q713* 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ABCA13 HGNC ENSG00000179869 306 1 0.33 286 172 37.47 - - - AKAP9 0 genome.wustl.edu 37 7 91630767 91630767 + Silent SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 91630767 91630767 C G SNP AKAP9 ENST00000359028 human ensembl 69_37n +1 known silent c.1572 p.L524 0.974 NULL pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like - no_errors AKAP9 HGNC ENSG00000127914 47 0 0.00 38 12 24.00 - - - AOX1 0 genome.wustl.edu 37 2 201523930 201523930 + Silent SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 201523930 201523930 C T SNP AOX1 ENST00000374700 human ensembl 69_37n +1 known silent c.3214 p.L1072 1.000 pfam_AldOxase/xan_DH_Mopterin-bd,superfamily_AldOxase/xan_DH_Mopterin-bd,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Aldehyde_oxidase pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Aldehyde_oxidase - no_errors AOX1 HGNC ENSG00000138356 172 0 0.00 155 23 12.85 - - - ATP5F1 0 genome.wustl.edu 37 1 111999346 111999346 + Missense_Mutation SNP A A G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 111999346 111999346 A G SNP ATP5F1 ENST00000369722 human ensembl 69_37n +1 known missense c.482 p.Q161R 1.000 pfam_ATPase_F0-cplx_bsu_mt pfam_ATPase_F0-cplx_bsu_mt - no_errors ATP5F1 HGNC ENSG00000116459 102 0 0.00 43 13 22.81 - - - ATRX 0 genome.wustl.edu 37 X 76937079 76937079 + Silent SNP T T C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 X 76937079 76937079 T C SNP ATRX ENST00000373344 human ensembl 69_37n -1 known silent c.3669 p.E1223 0.992 NULL pfam_SNF2_N,pfam_Helicase_C,superfamily_Znf_FYVE_PHD,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ATRX HGNC ENSG00000085224 210 0 0.00 125 38 23.31 - - - C16orf96 0 genome.wustl.edu 37 16 4624728 4624728 + Missense_Mutation SNP G G T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 16 4624728 4624728 G T SNP C16orf96 ENST00000444310 human ensembl 69_37n +1 known missense c.544 p.D182Y 0.000 NULL NULL - no_errors C16orf96 HGNC ENSG00000205832 49 0 0.00 23 7 23.33 - - - C1orf116 0 genome.wustl.edu 37 1 207195327 207195327 + Silent SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 207195327 207195327 C T SNP C1orf116 ENST00000359470 human ensembl 69_37n -1 known silent c.1782 p.K594 1.000 NULL NULL - no_errors C1orf116 HGNC ENSG00000182795 175 0 0.00 96 31 24.41 - - - C1orf122 0 genome.wustl.edu 37 1 38274673 38274674 + Frame_Shift_Ins INS - - C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 38274673 38274674 - C INS C1orf122 ENST00000446260 human ensembl 69_37n +1 known frame_shift_ins c.347_348 p.S119fs 0.772:0.677 NULL NULL - no_errors C1orf122 HGNC ENSG00000197982 18 0 0.00 3 3 50.00 - - - C20orf26 0 genome.wustl.edu 37 20 20054946 20054946 + Missense_Mutation SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 20 20054946 20054946 C A SNP C20orf26 ENST00000245957 human ensembl 69_37n +1 known missense c.295 p.P99T 1.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 242 0 0.00 150 127 45.85 - - - C9orf123 0 genome.wustl.edu 37 9 7799564 7799564 + Silent SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 9 7799564 7799564 C A SNP C9orf123 ENST00000358227 human ensembl 69_37n -1 known silent c.171 p.G57 0.927 NULL NULL - no_errors C9orf123 HGNC ENSG00000137038 59 0 0.00 32 7 17.95 - - - CACHD1 0 genome.wustl.edu 37 1 65129390 65129390 + Missense_Mutation SNP T T G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 65129390 65129390 T G SNP CACHD1 ENST00000371073 human ensembl 69_37n +1 known missense c.1964 p.I655S 1.000 NULL pfam_VWA_N,pfam_Cache_domain,pfscan_VWF_A - no_errors CACHD1 HGNC ENSG00000158966 117 0 0.00 128 20 13.51 - - - CALD1 0 genome.wustl.edu 37 7 134618765 134618765 + Silent SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 134618765 134618765 G A SNP CALD1 ENST00000361675 human ensembl 69_37n +1 novel silent c.1245 p.G415 0.983 pfam_Caldesmon_LSP pfam_Caldesmon_LSP,prints_Caldesmon - no_errors CALD1 HGNC ENSG00000122786 816 0 0.00 810 230 22.09 - - - CASQ2 0 genome.wustl.edu 37 1 116280859 116280859 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 116280859 116280859 C T SNP CASQ2 ENST00000261448 human ensembl 69_37n -1 known missense c.518 p.S173N 0.968 pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin pfam_Calsequestrin,superfamily_Thioredoxin-like_fold,prints_Calsequestrin - no_errors CASQ2 HGNC ENSG00000118729 211 0 0.00 193 33 14.60 - - - CDH26 0 genome.wustl.edu 37 20 58564054 58564054 + Silent SNP G G T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 20 58564054 58564054 G T SNP CDH26 ENST00000244047 human ensembl 69_37n +1 known silent c.1119 p.P373 0.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH26 HGNC ENSG00000124215 145 0 0.00 146 29 16.38 - - - CHURC1-FNTB 0 genome.wustl.edu 37 14 65381251 65381251 + Missense_Mutation SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 14 65381251 65381251 G A SNP CHURC1-FNTB ENST00000447296 human ensembl 69_37n +1 known missense c.38 p.R13Q 1.000 pfam_Transcrpt_activator_Churchill pfam_Prenyltrans,pfam_Transcrpt_activator_Churchill,superfamily_Terpenoid_cyclase/PrenylTrfase - no_errors CHURC1-FNTB HGNC ENSG00000125954 85 0 0.00 31 12 27.91 - - - CLDN12 0 genome.wustl.edu 37 7 90042574 90042574 + Missense_Mutation SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 90042574 90042574 G C SNP CLDN12 ENST00000287916 human ensembl 69_37n +1 known missense c.584 p.W195S 1.000 NULL prints_Claudin12 - no_errors CLDN12 HGNC ENSG00000157224 109 1 0.91 56 31 35.63 - - - CLIC2 0 genome.wustl.edu 37 X 154528458 154528458 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 X 154528458 154528458 C T SNP CLIC2 ENST00000369449 human ensembl 69_37n -1 known missense c.58 p.A20T 1.000 superfamily_Thioredoxin-like_fold,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC2 HGNC ENSG00000155962 299 0 0.00 280 32 10.26 - - - CNTLN 0 genome.wustl.edu 37 9 17235755 17235755 + Missense_Mutation SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 9 17235755 17235755 G C SNP CNTLN ENST00000380647 human ensembl 69_37n +1 known missense c.634 p.E212Q 1.000 superfamily_Prefoldin superfamily_Prefoldin - no_errors CNTLN HGNC ENSG00000044459 320 0 0.00 140 57 28.93 - - - COMP 0 genome.wustl.edu 37 19 18902064 18902064 + Silent SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 19 18902064 18902064 G C SNP COMP ENST00000222271 human ensembl 69_37n -1 known silent c.15 p.T5 0.938 NULL pfam_Thrombospondin_C,pfam_EGF-like_Ca-bd,pfam_Thbs/COMP_coiled-coil,pfam_Thrombospondin_3-like_rpt,superfamily_ConA-like_lec_gl,smart_EGF-like,smart_EGF-like_Ca-bd,pfscan_EG-like_dom - no_errors COMP HGNC ENSG00000105664 60 0 0.00 43 10 18.87 - - - CREB3L1 0 genome.wustl.edu 37 11 46332608 46332609 + Frame_Shift_Ins INS - - C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 11 46332608 46332609 - C INS CREB3L1 ENST00000288400 human ensembl 69_37n +1 known frame_shift_ins c.621_622 p.S209fs 0.542:1.000 NULL pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB - no_errors CREB3L1 HGNC ENSG00000157613 29 0 0.00 27 3 10.00 - - - CSMD1 0 genome.wustl.edu 37 8 2818711 2818711 + Missense_Mutation SNP G G T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 8 2818711 2818711 G T SNP CSMD1 ENST00000520002 human ensembl 69_37n -1 known missense c.9657 p.D3219E 1.000 pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 116 0 0.00 75 14 15.73 - - - CYP3A7 0 genome.wustl.edu 37 7 99306819 99306819 + Silent SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 99306819 99306819 G C SNP CYP3A7 ENST00000336374 human ensembl 69_37n -1 known silent c.1092 p.L364 0.995 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_CYP3A,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP3A7 HGNC ENSG00000160870 546 0 0.00 237 62 20.74 - - - DHX15 0 genome.wustl.edu 37 4 24529618 24529618 + Nonsense_Mutation SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 4 24529618 24529618 G A SNP DHX15 ENST00000336812 human ensembl 69_37n -1 known nonsense c.2317 p.Q773* 1.000 NULL pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DHX15 HGNC ENSG00000109606 247 1 0.40 98 40 28.37 - - - DLD 0 genome.wustl.edu 37 7 107533688 107533688 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 107533688 107533688 C T SNP DLD ENST00000205402 human ensembl 69_37n +1 known missense c.83 p.S28F 1.000 NULL pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_Pyr_nucl-diS_OxRdtase_dimer,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_FAD_bind_dom,pfam_GIDA-rel,superfamily_FAD/NAD-linked_Rdtase_dimer,prints_FAD_pyr_nucl-diS_OxRdtase,prints_Hg_reductase,prints_Pyridine_nuc-diS_OxRdtase_2,tigrfam_Lipoamide_DH - no_errors DLD HGNC ENSG00000091140 184 0 0.00 117 22 15.83 - - - DST 0 genome.wustl.edu 37 6 56473517 56473517 + Frame_Shift_Del DEL A A - TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 6 56473517 56473517 A - DEL DST ENST00000370754 human ensembl 69_37n -1 known frame_shift_del c.5810 p.L1937fs 1.000 superfamily_ABC_transptrTM_dom_typ1,smart_Plectin_repeat pfam_Spectrin_repeat,pfam_Plectin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2 - no_errors DST HGNC ENSG00000151914 142 0 0.00 107 33 23.40 - - - ENPP1 0 genome.wustl.edu 37 6 132207728 132207728 + Missense_Mutation SNP A A C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 6 132207728 132207728 A C SNP ENPP1 ENST00000360971 human ensembl 69_37n +1 known missense c.2471 p.E824A 0.999 pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata - no_errors ENPP1 HGNC ENSG00000197594 177 0 0.00 45 21 31.82 - - - ERCC5 0 genome.wustl.edu 37 13 103514800 103514800 + Missense_Mutation SNP T T C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 13 103514800 103514800 T C SNP ERCC5 ENST00000355739 human ensembl 69_37n +1 known missense c.1301 p.V434A 0.000 tigrfam_XPGC_DNA_repair pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair - no_errors ERCC5 HGNC ENSG00000134899 191 0 0.00 153 42 21.54 - - - EYA1 0 genome.wustl.edu 37 8 72211888 72211888 + Missense_Mutation SNP A A G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 8 72211888 72211888 A G SNP EYA1 ENST00000465115 human ensembl 69_37n -1 known missense c.542 p.L181S 1.000 NULL NULL - no_errors EYA1 HGNC ENSG00000104313 235 0 0.00 137 35 20.35 - - - FAM123A 0 genome.wustl.edu 37 13 25744436 25744437 + Frame_Shift_Ins INS - - C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 13 25744436 25744437 - C INS FAM123A ENST00000515384 human ensembl 69_37n -1 known frame_shift_ins c.1322_1321 p.D441fs 1.000:1.000 pfam_Uncharacterised_FAM123 pfam_Uncharacterised_FAM123 - no_errors FAM123A HGNC ENSG00000165566 46 0 0.00 31 10 24.39 - - - FBXO24 0 genome.wustl.edu 37 7 100189458 100189458 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 100189458 100189458 C T SNP FBXO24 ENST00000427939 human ensembl 69_37n +1 known missense c.605 p.S202F 1.000 NULL pfam_F-box_dom_cyclin-like,pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like,pfscan_Reg_chr_condens - no_errors FBXO24 HGNC ENSG00000106336 137 0 0.00 128 39 23.35 - - - FLNA 0 genome.wustl.edu 37 X 153593247 153593247 + Missense_Mutation SNP G G T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 X 153593247 153593247 G T SNP FLNA ENST00000420627 human ensembl 69_37n -1 known missense c.1726 p.R576S 0.754 NULL pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_start_codon FLNA HGNC ENSG00000196924 25 0 0.00 38 10 20.83 - - - GAL3ST1 0 genome.wustl.edu 37 22 30951010 30951010 + Missense_Mutation SNP A A G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 22 30951010 30951010 A G SNP GAL3ST1 ENST00000338911 human ensembl 69_37n -1 known missense c.1202 p.L401P 1.000 pfam_Gal-3-0_sulfotransfrase pfam_Gal-3-0_sulfotransfrase - no_errors GAL3ST1 HGNC ENSG00000128242 29 0 0.00 25 8 24.24 - - - GCN1L1 0 genome.wustl.edu 37 12 120591094 120591094 + Missense_Mutation SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 12 120591094 120591094 G C SNP GCN1L1 ENST00000300648 human ensembl 69_37n -1 known missense c.3985 p.H1329D 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 74 0 0.00 40 11 21.57 - - - GFPT2 0 genome.wustl.edu 37 5 179739534 179739534 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 5 179739534 179739534 C T SNP GFPT2 ENST00000253778 human ensembl 69_37n -1 known missense c.1442 p.S481N 1.000 pfam_SIS,tigrfam_GlmS_trans pfam_SIS,pfam_GATase_dom,tigrfam_GlmS_trans - no_errors GFPT2 HGNC ENSG00000131459 102 0 0.00 79 17 17.71 - - - GLI2 0 genome.wustl.edu 37 2 121743981 121743981 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 121743981 121743981 C T SNP GLI2 ENST00000361492 human ensembl 69_37n +1 known missense c.2084 p.T695M 0.976 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLI2 HGNC ENSG00000074047 86 0 0.00 41 14 25.45 - - - GPR112 0 genome.wustl.edu 37 X 135428727 135428727 + Silent SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 X 135428727 135428727 C T SNP GPR112 ENST00000370652 human ensembl 69_37n +1 known silent c.2862 p.P954 0.004 NULL pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like - no_errors GPR112 HGNC ENSG00000156920 262 0 0.00 260 66 20.25 - - - HAS1 0 genome.wustl.edu 37 19 52217239 52217239 + Missense_Mutation SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 19 52217239 52217239 C G SNP HAS1 ENST00000222115 human ensembl 69_37n -1 known missense c.1178 p.W393S 1.000 NULL pfam_Chitin_synth_fng,pfam_Glyco_trans_2 - no_errors HAS1 HGNC ENSG00000105509 176 0 0.00 103 36 25.71 - - - HIST2H2AC 0 genome.wustl.edu 37 1 149858811 149858811 + Missense_Mutation SNP A A T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 149858811 149858811 A T SNP HIST2H2AC ENST00000331380 human ensembl 69_37n +1 known missense c.287 p.K96M 1.000 superfamily_Histone-fold,smart_Histone_H2A pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A - no_errors HIST2H2AC HGNC ENSG00000184260 264 1 0.37 180 53 22.65 - - - JTB 0 genome.wustl.edu 37 1 153948314 153948314 + Frame_Shift_Del DEL T T - TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 153948314 153948314 T - DEL JTB ENST00000271843 human ensembl 69_37n -1 known frame_shift_del c.272 p.N91fs 0.834 pfam_JTB pfam_JTB - no_errors JTB HGNC ENSG00000143543 254 0 0.00 150 51 25.12 - - - KALRN 0 genome.wustl.edu 37 3 124418847 124418847 + Missense_Mutation SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 3 124418847 124418847 G C SNP KALRN ENST00000360013 human ensembl 69_37n +1 known missense c.7963 p.E2655Q 1.000 superfamily_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain - no_errors KALRN HGNC ENSG00000160145 247 1 0.40 152 50 24.75 - - - KCNC3 0 genome.wustl.edu 37 19 50826555 50826556 + Frame_Shift_Ins INS - - G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 19 50826555 50826556 - G INS KCNC3 ENST00000477616 human ensembl 69_37n -1 known frame_shift_ins c.1655_1654 p.K552fs 1.000:1.000 prints_K_chnl_volt-dep_Kv3 pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 43 0 0.00 31 4 11.43 - - - KCNC3 0 genome.wustl.edu 37 19 50826558 50826559 + Frame_Shift_Ins INS - - GA TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 19 50826558 50826559 - GA INS KCNC3 ENST00000477616 human ensembl 69_37n -1 known frame_shift_ins c.1652_1651 p.A551fs 1.000:1.000 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv - no_errors KCNC3 HGNC ENSG00000131398 45 0 0.00 34 4 10.53 - - - KCNH2 0 genome.wustl.edu 37 7 150647101 150647101 + Missense_Mutation SNP G G T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 150647101 150647101 G T SNP KCNH2 ENST00000430723 human ensembl 69_37n -1 known missense c.2553 p.S851R 0.000 smart_cNMP-bd_dom pfam_Ion_trans_dom,pfam_Ion_trans_2,pfam_PAS_fold,pfam_PAS_fold_3,superfamily_cNMP-bd-like,smart_PAC,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom,pfscan_PAS,pfscan_PAS-assoc_C,prints_K_chnl_volt-dep_EAG/ELK/ERG,prints_K_chnl_volt-dep_ERG,tigrfam_PAS - no_errors KCNH2 HGNC ENSG00000055118 129 0 0.00 39 12 23.53 - - - KLHL25 0 genome.wustl.edu 37 15 86311929 86311929 + Silent SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 15 86311929 86311929 C T SNP KLHL25 ENST00000337975 human ensembl 69_37n -1 known silent c.1113 p.A371 0.386 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL25 HGNC ENSG00000183655 38 0 0.00 32 5 13.51 - - - KRT23 0 genome.wustl.edu 37 17 39092736 39092737 + Frame_Shift_Ins INS - - C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 17 39092736 39092737 - C INS KRT23 ENST00000209718 human ensembl 69_37n -1 known frame_shift_ins c.120_119 p.A41fs 0.000:0.968 NULL pfam_F,prints_Keratin_I - no_errors KRT23 HGNC ENSG00000108244 38 0 0.00 24 3 11.11 - - - LMTK3 0 genome.wustl.edu 37 19 49004805 49004805 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 19 49004805 49004805 C T SNP LMTK3 ENST00000270238 human ensembl 69_37n -1 known missense c.896 p.R299H 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors LMTK3 HGNC ENSG00000142235 119 0 0.00 81 30 27.03 - - - LRP6 0 genome.wustl.edu 37 12 12397385 12397385 + Missense_Mutation SNP T T A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 12 12397385 12397385 T A SNP LRP6 ENST00000261349 human ensembl 69_37n -1 known missense c.260 p.Q87L 1.000 pirsf_Low_density_Lipo_rcpt-rel_p5/6,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pirsf_Low_density_Lipo_rcpt-rel_p5/6,pfam_LDLR_classB_rpt,pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDLR_classB_rpt,smart_EGF-like,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors LRP6 HGNC ENSG00000070018 327 0 0.00 133 45 25.28 - - - MAP2K4 0 genome.wustl.edu 37 17 12011108 12011109 + Frame_Shift_Ins INS - - T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 17 12011108 12011109 - T INS MAP2K4 ENST00000415385 human ensembl 69_37n +1 known frame_shift_ins c.548_549 p.D184fs 1.000:1.000 pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP2K4 HGNC ENSG00000065559 233 0 0.00 135 56 29.32 - - - MBD1 0 genome.wustl.edu 37 18 47800615 47800615 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 18 47800615 47800615 C T SNP MBD1 ENST00000424334 human ensembl 69_37n -1 known missense c.1240 p.G414R 1.000 pfam_Znf_CXXC,pfscan_Znf_CXXC pfam_Znf_CXXC,pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_CXXC - no_errors MBD1 HGNC ENSG00000141644 53 0 0.00 24 6 20.00 - - - MCTP2 0 genome.wustl.edu 37 15 94910918 94910918 + Silent SNP T T A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 15 94910918 94910918 T A SNP MCTP2 ENST00000357742 human ensembl 69_37n +1 known silent c.1386 p.L462 0.004 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting - no_errors MCTP2 HGNC ENSG00000140563 69 0 0.00 102 13 11.30 - - - MDN1 0 genome.wustl.edu 37 6 90388354 90388354 + Missense_Mutation SNP C C T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 6 90388354 90388354 C T SNP MDN1 ENST00000369393 human ensembl 69_37n -1 known missense c.12376 p.A4126T 1.000 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 125 0 0.00 72 11 13.10 - - - MIR532 0 genome.wustl.edu 37 X 49767767 49767767 + RNA SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 X 49767767 49767767 C G SNP MIR532 ENST00000385025 human ensembl 69_37n +1 known rna NULL NULL 1.000 - - - no_errors MIR532 HGNC ENSG00000207758 371 0 0.00 214 54 20.15 - - - MLYCD 0 genome.wustl.edu 37 16 83940597 83940597 + Missense_Mutation SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 16 83940597 83940597 G A SNP MLYCD ENST00000262430 human ensembl 69_37n +1 known missense c.534 p.M178I 1.000 pfam_Malonyl_CoA_deC pfam_Malonyl_CoA_deC - no_errors MLYCD HGNC ENSG00000103150 115 0 0.00 152 26 14.53 - - - MUC16 0 genome.wustl.edu 37 19 9056288 9056288 + Missense_Mutation SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 19 9056288 9056288 G C SNP MUC16 ENST00000397910 human ensembl 69_37n -1 known missense c.31158 p.S10386R 0.000 NULL pfam_SEA,smart_SEA,pfscan_SEA - no_errors MUC16 HGNC ENSG00000181143 112 0 0.00 102 34 24.82 - - - MYCBPAP 0 genome.wustl.edu 37 17 48595031 48595031 + Missense_Mutation SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 17 48595031 48595031 G C SNP MYCBPAP ENST00000323776 human ensembl 69_37n +1 known missense c.569 p.R190T 1.000 NULL NULL - no_errors MYCBPAP HGNC ENSG00000136449 37 0 0.00 28 9 24.32 - - - NBPF11 0 genome.wustl.edu 37 1 146055394 146055394 + Missense_Mutation SNP A A G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 146055394 146055394 A G SNP NBPF11 ENST00000339388 human ensembl 69_37n -1 known missense c.229 p.F77L 0.002 NULL pfam_NBPF_dom,superfamily_Secretoglobin - no_errors NBPF11 HGNC ENSG00000152042 34 0 0.00 18 4 18.18 - - - NKX3-2 0 genome.wustl.edu 37 4 13543811 13543811 + Silent SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 4 13543811 13543811 G A SNP NKX3-2 ENST00000382438 human ensembl 69_37n -1 known silent c.808 p.L270 1.000 superfamily_Homeodomain-like pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa - no_errors NKX3-2 HGNC ENSG00000109705 28 0 0.00 21 10 32.26 - - - NOTCH2 0 genome.wustl.edu 37 1 120529653 120529653 + Missense_Mutation SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 120529653 120529653 C A SNP NOTCH2 ENST00000256646 human ensembl 69_37n -1 known missense c.804 p.R268S 1.000 pirsf_Notch,pfam_EGF-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EGF-like,pfscan_EG-like_dom pirsf_Notch,pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom - no_errors NOTCH2 HGNC ENSG00000134250 313 0 0.00 272 61 18.32 - - - OR6T1 0 genome.wustl.edu 37 11 123814154 123814154 + Missense_Mutation SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 11 123814154 123814154 C A SNP OR6T1 ENST00000321252 human ensembl 69_37n -1 known missense c.392 p.R131L 0.994 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn - no_errors OR6T1 HGNC ENSG00000181499 104 0 0.00 47 29 38.16 - - - PAPOLG 0 genome.wustl.edu 37 2 61021858 61021858 + Missense_Mutation SNP A A T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 61021858 61021858 A T SNP PAPOLG ENST00000238714 human ensembl 69_37n +1 known missense c.2003 p.E668V 1.000 NULL pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase - no_errors PAPOLG HGNC ENSG00000115421 81 0 0.00 52 9 14.75 - - - PCDHB10 0 genome.wustl.edu 37 5 140574045 140574045 + Silent SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 5 140574045 140574045 C G SNP PCDHB10 ENST00000239446 human ensembl 69_37n +1 known silent c.1920 p.L640 0.002 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB10 HGNC ENSG00000120324 11 0 0.00 5 4 44.44 - - - PFKFB4 0 genome.wustl.edu 37 3 48573805 48573805 + Frame_Shift_Del DEL G G - TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 3 48573805 48573805 G - DEL PFKFB4 ENST00000232375 human ensembl 69_37n -1 known frame_shift_del c.724 p.L242fs 1.000 pfam_6Phosfructo_kin,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin - no_errors PFKFB4 HGNC ENSG00000114268 218 0 0.00 125 603 81.82 - - - PITX2 0 genome.wustl.edu 37 4 111539646 111539646 + Missense_Mutation SNP A A C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 4 111539646 111539646 A C SNP PITX2 ENST00000306732 human ensembl 69_37n -1 known missense c.610 p.F204V 1.000 pirsf_Homeobox_Pitx/unc30 pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeodomain - no_errors PITX2 HGNC ENSG00000164093 158 0 0.00 108 28 20.44 - - - PMS2 0 genome.wustl.edu 37 7 6038878 6038878 + Missense_Mutation SNP T T G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 6038878 6038878 T G SNP PMS2 ENST00000265849 human ensembl 69_37n -1 known missense c.566 p.H189P 0.998 superfamily_ATPase-like_ATP-bd,tigrfam_DNA_mismatch_repair_N pfam_MutL_C,pfam_DNA_mismatch_repair_C,pfam_ATPase-like_ATP-bd,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_MutL_C,tigrfam_DNA_mismatch_repair_N - no_errors PMS2 HGNC ENSG00000122512 130 0 0.00 128 28 17.95 - - - PREPL 0 genome.wustl.edu 37 2 44549012 44549012 + Missense_Mutation SNP T T A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 44549012 44549012 T A SNP PREPL ENST00000260648 human ensembl 69_37n -1 known missense c.2048 p.D683V 1.000 pfam_Peptidase_S9 pfam_Peptidase_S9,pfam_Peptidase_S9A_B_C_N,superfamily_Peptidase_S9A_B_C_N,prints_Peptidase_S9A - no_errors PREPL HGNC ENSG00000138078 159 0 0.00 72 35 32.71 - - - PVRIG 0 genome.wustl.edu 37 7 99818791 99818791 + Missense_Mutation SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 99818791 99818791 C A SNP PVRIG ENST00000317271 human ensembl 69_37n +1 known missense c.898 p.P300T 0.008 NULL NULL - no_errors PVRIG HGNC ENSG00000213413 84 0 0.00 41 10 19.61 - - - RAB20 0 genome.wustl.edu 37 13 111176499 111176500 + Frame_Shift_Ins INS - - C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 13 111176499 111176500 - C INS RAB20 ENST00000267328 human ensembl 69_37n -1 known frame_shift_ins c.218_217 p.A73fs 1.000:1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RAB20 HGNC ENSG00000139832 34 0 0.00 18 3 14.29 - - - RTN4 0 genome.wustl.edu 37 2 55209715 55209715 + Missense_Mutation SNP A A C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 55209715 55209715 A C SNP RTN4 ENST00000337526 human ensembl 69_37n -1 known missense c.3296 p.V1099G 1.000 pfam_Reticulon,pfscan_Reticulon pfam_Reticulon,pfscan_Reticulon - no_errors RTN4 HGNC ENSG00000115310 91 0 0.00 52 16 23.53 - - - SELRC1 0 genome.wustl.edu 37 1 53153417 53153417 + Missense_Mutation SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 1 53153417 53153417 C G SNP SELRC1 ENST00000371538 human ensembl 69_37n -1 known missense c.671 p.G224A 0.001 NULL pfam_Sel1-like,smart_Sel1-like - no_errors SELRC1 HGNC ENSG00000162377 192 0 0.00 130 16 10.96 - - - SEPT10 0 genome.wustl.edu 37 2 110343411 110343411 + Missense_Mutation SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 110343411 110343411 C A SNP SEPT10 ENST00000397712 human ensembl 69_37n -1 known missense c.104 p.R35I 0.222 NULL pfam_Cell_div_GTP-bd,pirsf_Septin - no_errors SEPT10 HGNC ENSG00000186522 189 0 0.00 152 45 22.84 - - - SETD2 0 genome.wustl.edu 37 3 47164390 47164390 + Missense_Mutation SNP T T C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 3 47164390 47164390 T C SNP SETD2 ENST00000409792 human ensembl 69_37n -1 known missense c.1736 p.N579S 0.980 NULL pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP - no_errors SETD2 HGNC ENSG00000181555 28 0 0.00 10 9 47.37 - - - SHC4 0 genome.wustl.edu 37 15 49148280 49148282 + In_Frame_Del DEL TCT TCT - TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 TCT TCT Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 15 49148280 49148282 TCT - DEL SHC4 ENST00000332408 human ensembl 69_37n -1 known in_frame_del c.1112_1110 p.E370in_frame_del 0.999:1.000:1.000 NULL pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,prints_PID_domain,prints_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2 - no_errors SHC4 HGNC ENSG00000185634 209 0 0.00 176 21 10.61 - - - SLC4A4 0 genome.wustl.edu 37 4 72316952 72316953 + Frame_Shift_Ins INS - - A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 4 72316952 72316953 - A INS SLC4A4 ENST00000425175 human ensembl 69_37n +1 known frame_shift_ins c.1256_1257 p.P420fs 0.996:0.391 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 184 0 0.00 165 33 16.67 - - - SLC4A4 0 genome.wustl.edu 37 4 72316953 72316953 + Silent SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 4 72316953 72316953 G C SNP SLC4A4 ENST00000425175 human ensembl 69_37n +1 known silent c.1257 p.T419 0.391 tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A4 HGNC ENSG00000080493 190 0 0.00 163 33 16.42 - - - SRCAP 0 genome.wustl.edu 37 16 30722922 30722922 + Missense_Mutation SNP A A T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 16 30722922 30722922 A T SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.1349 p.Q450L 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 248 0 0.00 294 43 12.72 - - - SUPT6H 0 genome.wustl.edu 37 17 27001581 27001581 + Missense_Mutation SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 17 27001581 27001581 G A SNP SUPT6H ENST00000314616 human ensembl 69_37n +1 known missense c.295 p.D99N 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom - no_errors SUPT6H HGNC ENSG00000109111 357 0 0.00 312 107 25.54 - - - TARS 0 genome.wustl.edu 37 5 33461087 33461087 + Missense_Mutation SNP A A C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 5 33461087 33461087 A C SNP TARS ENST00000265112 human ensembl 69_37n +1 known missense c.1331 p.E444A 1.000 pfam_aa-tRNA-synt_IIb_cons-dom,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Anticodon-bd,pfam_TGS,pfam_tRNA_SAD,superfamily_Thr/Ala-tRNA-synth_IIc_edit,superfamily_Anticodon-bd,superfamily_TGS-like,smart_tRNA_SAD,prints_Thr-tRNA-synth_IIa,pfscan_aa-tRNA-synth_II,tigrfam_Thr-tRNA-synth_IIa - no_errors TARS HGNC ENSG00000113407 126 0 0.00 58 20 25.64 - - - TECTA 0 genome.wustl.edu 37 11 121060518 121060518 + Missense_Mutation SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 11 121060518 121060518 C A SNP TECTA ENST00000264037 human ensembl 69_37n +1 known missense c.6296 p.T2099K 1.000 smart_EGF-like pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_Zona_pellucida_Endoglin/CD105,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_Zona_pellucida_Endoglin/CD105,pfscan_Zona_pellucida_Endoglin/CD105 - no_errors TECTA HGNC ENSG00000109927 479 0 0.00 239 27 10.15 - - - TRIM72 0 genome.wustl.edu 37 16 31230728 31230728 + Missense_Mutation SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 16 31230728 31230728 G A SNP TRIM72 ENST00000322122 human ensembl 69_37n +1 known missense c.605 p.G202E 0.241 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM72 HGNC ENSG00000177238 32 0 0.00 59 26 30.59 - - - TRIML1 0 genome.wustl.edu 37 4 189068235 189068235 + Silent SNP T T A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 4 189068235 189068235 T A SNP TRIML1 ENST00000332517 human ensembl 69_37n +1 known silent c.1116 p.P372 0.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIML1 HGNC ENSG00000184108 26 0 0.00 90 20 18.18 - - - TTN 0 genome.wustl.edu 37 2 179471808 179471808 + Missense_Mutation SNP T T C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 179471808 179471808 T C SNP TTN ENST00000342992 human ensembl 69_37n -1 known missense c.45817 p.N15273D 1.000 pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 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 324 0 0.00 254 87 25.51 - - - TTN 0 genome.wustl.edu 37 2 179605674 179605674 + Frame_Shift_Del DEL G G - TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 179605674 179605674 G - DEL TTN ENST00000342175 human ensembl 69_37n -1 known frame_shift_del c.11773 p.H3925fs 0.116 superfamily_RNaseH-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,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 129 0 0.00 145 31 17.51 - - - URGCP 0 genome.wustl.edu 37 7 43917712 43917712 + Missense_Mutation SNP G G T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 43917712 43917712 G T SNP URGCP ENST00000453200 human ensembl 69_37n -1 known missense c.1350 p.D450E 0.948 NULL prints_GTP_binding_domain - no_errors URGCP HGNC ENSG00000106608 94 0 0.00 52 9 14.75 - - - USP37 0 genome.wustl.edu 37 2 219410972 219410972 + Missense_Mutation SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 219410972 219410972 C G SNP USP37 ENST00000258399 human ensembl 69_37n -1 known missense c.652 p.D218H 1.000 NULL pfam_Peptidase_C19,pfam_Ubiquitin-int_motif,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_Peptidase_C19 - no_errors USP37 HGNC ENSG00000135913 225 0 0.00 176 42 19.27 - - - VPS13A 0 genome.wustl.edu 37 9 80020881 80020881 + Missense_Mutation SNP G G A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 9 80020881 80020881 G A SNP VPS13A ENST00000360280 human ensembl 69_37n +1 known missense c.9377 p.R3126K 1.000 NULL pfam_VPSAP,pfam_Autophagy-rel_C - no_errors VPS13A HGNC ENSG00000197969 365 0 0.00 229 76 24.92 - - - VPS37A 0 genome.wustl.edu 37 8 17137583 17137583 + Nonsense_Mutation SNP G G T TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 8 17137583 17137583 G T SNP VPS37A ENST00000324849 human ensembl 69_37n +1 known nonsense c.760 p.E254* 1.000 pfam_Mod_r pfam_Mod_r,superfamily_UBQ-conjugating_enzyme/RWD - no_errors VPS37A HGNC ENSG00000155975 84 0 0.00 45 13 22.03 - - - YLPM1 0 genome.wustl.edu 37 14 75247126 75247126 + Missense_Mutation SNP G G C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 14 75247126 75247126 G C SNP YLPM1 ENST00000325680 human ensembl 69_37n +1 known missense c.1129 p.D377H 1.000 NULL superfamily_FH2_actin-bd - no_errors YLPM1 HGNC ENSG00000119596 300 0 0.00 142 33 18.86 - - - ZNF142 0 genome.wustl.edu 37 2 219509198 219509199 + Frame_Shift_Ins INS - - G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 2 219509198 219509199 - G INS ZNF142 ENST00000411696 human ensembl 69_37n -1 known frame_shift_ins c.2041_2040 p.G680fs 0.065:0.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF142 HGNC ENSG00000115568 45 0 0.00 23 14 37.84 - - - ZNF438 0 genome.wustl.edu 37 10 31134261 31134261 + Missense_Mutation SNP C C G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 10 31134261 31134261 C G SNP ZNF438 ENST00000361310 human ensembl 69_37n -1 known missense c.2116 p.E706Q 0.970 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF438 HGNC ENSG00000183621 83 0 0.00 34 10 22.73 - - - ZNF485 0 genome.wustl.edu 37 10 44111988 44111988 + Missense_Mutation SNP C C A TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 10 44111988 44111988 C A SNP ZNF485 ENST00000361807 human ensembl 69_37n +1 known missense c.497 p.A166D 0.002 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 ZNF485 HGNC ENSG00000198298 123 0 0.00 76 34 30.91 - - - ZNF646 0 genome.wustl.edu 37 16 31087657 31087658 + Frame_Shift_Ins INS - - C TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 16 31087657 31087658 - C INS ZNF646 ENST00000300850 human ensembl 69_37n +1 known frame_shift_ins c.12_13 p.S6fs 0.000:0.235 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF646 HGNC ENSG00000167395 31 0 0.00 23 3 11.54 - - - ZNF777 0 genome.wustl.edu 37 7 149152291 149152292 + Frame_Shift_Ins INS - - G TCGA-AO-A03T-01A-21W-A050-09 TCGA-AO-A03T-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx cbea866d-da66-4f7c-994b-c1ec35aa2d4b 467c3965-5537-4c89-a3f0-ba3eca9854b4 7 149152291 149152292 - G INS ZNF777 ENST00000247930 human ensembl 69_37n -1 known frame_shift_ins c.823_822 p.G274fs 0.979:0.003 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 19 0 0.00 27 4 12.90 - - -