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 AKT1 0 genome.wustl.edu 37 14 105246445 105246445 + Missense_Mutation SNP A A C TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 14 105246445 105246445 A C SNP AKT1 ENST00000349310 human ensembl 69_37n -1 known missense c.155 p.L52R 0.998 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_cat_dom - no_errors AKT1 HGNC ENSG00000142208 74 0 0.00 11 97 89.81 - - - APC 0 genome.wustl.edu 37 5 112179286 112179286 + Silent SNP C C G TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 5 112179286 112179286 C G SNP APC ENST00000257430 human ensembl 69_37n +1 known silent c.7995 p.P2665 1.000 NULL pfam_APC_basic_dom,pfam_EB1-bd,pfam_APC_Cys-rich_rpt,pfam_Armadillo,pfam_SAMP,pfam_APC_15aa_rpt,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo - no_errors APC HGNC ENSG00000134982 86 0 0.00 118 71 37.57 - - - ASB10 0 genome.wustl.edu 37 7 150884267 150884268 + Frame_Shift_Del DEL AG AG - TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 AG AG Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 7 150884267 150884268 AG - DEL ASB10 ENST00000422024 human ensembl 69_37n -1 known frame_shift_del c.86_85 p.L29fs 0.003:0.000 NULL pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C - no_errors ASB10 HGNC ENSG00000146926 14 0 0.00 38 5 11.63 - - - ASB17 0 genome.wustl.edu 37 1 76397891 76397891 + Missense_Mutation SNP C C T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 1 76397891 76397891 C T SNP ASB17 ENST00000284142 human ensembl 69_37n -1 known missense c.86 p.R29K 1.000 NULL pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_SOCS_C,pfscan_SOCS_C - no_errors ASB17 HGNC ENSG00000154007 97 0 0.00 118 75 38.86 - - - BRWD1 0 genome.wustl.edu 37 21 40587280 40587280 + Missense_Mutation SNP G G C TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 21 40587280 40587280 G C SNP BRWD1 ENST00000333229 human ensembl 69_37n -1 known missense c.3668 p.S1223C 1.000 pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_WD40_repeat_dom,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors BRWD1 HGNC ENSG00000185658 197 0 0.00 233 179 43.45 - - - C11orf63 0 genome.wustl.edu 37 11 122805197 122805197 + Missense_Mutation SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 11 122805197 122805197 G A SNP C11orf63 ENST00000227349 human ensembl 69_37n +1 known missense c.1048 p.D350N 0.072 NULL NULL - no_errors C11orf63 HGNC ENSG00000109944 47 0 0.00 85 72 45.86 - - - CDH9 0 genome.wustl.edu 37 5 26881437 26881437 + Missense_Mutation SNP G G T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 5 26881437 26881437 G T SNP CDH9 ENST00000231021 human ensembl 69_37n -1 known missense c.2178 p.D726E 1.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH9 HGNC ENSG00000113100 210 1 0.47 275 196 41.61 - - - CELP 0 genome.wustl.edu 37 9 135959979 135959979 + RNA SNP C C T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 9 135959979 135959979 C T SNP CELP ENST00000411440 human ensembl 69_37n +1 known rna NULL NULL 0.917 - - - no_errors CELP HGNC ENSG00000170827 12 0 0.00 19 9 32.14 - - - CHD5 0 genome.wustl.edu 37 1 6206325 6206325 + Silent SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 1 6206325 6206325 G A SNP CHD5 ENST00000262450 human ensembl 69_37n -1 known silent c.1749 p.Y583 1.000 superfamily_Chromodomain-like pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD5 HGNC ENSG00000116254 103 0 0.00 128 90 41.28 - - - CMTM2 0 genome.wustl.edu 37 16 66613573 66613573 + Silent SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 16 66613573 66613573 G A SNP CMTM2 ENST00000268595 human ensembl 69_37n +1 known silent c.63 p.G21 0.001 NULL NULL - no_errors CMTM2 HGNC ENSG00000140932 40 0 0.00 13 39 75.00 - - - COL6A5 0 genome.wustl.edu 37 3 130134498 130134498 + Missense_Mutation SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 3 130134498 130134498 G A SNP COL6A5 ENST00000265379 human ensembl 69_37n +1 known missense c.4771 p.G1591R 0.842 pfam_Collagen pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 49 0 0.00 91 84 48.00 - - - CROCCP2 0 genome.wustl.edu 37 1 16950687 16950687 + RNA SNP G G T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 1 16950687 16950687 G T SNP CROCCP2 ENST00000421700 human ensembl 69_37n -1 known rna NULL NULL 0.003 - - - no_errors CROCCP2 HGNC ENSG00000215908 12 0 0.00 9 4 28.57 - - - EEA1 0 genome.wustl.edu 37 12 93192857 93192857 + Silent SNP A A T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 12 93192857 93192857 A T SNP EEA1 ENST00000322349 human ensembl 69_37n -1 known silent c.2778 p.S926 0.995 NULL pfam_Znf_FYVE,superfamily_Znf_FYVE_PHD,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_Znf_C2H2 - no_errors EEA1 HGNC ENSG00000102189 94 0 0.00 107 97 47.09 - - - FAM186A 0 genome.wustl.edu 37 12 50757068 50757068 + Missense_Mutation SNP G G T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 12 50757068 50757068 G T SNP FAM186A ENST00000327337 human ensembl 69_37n -1 known missense c.272 p.S91Y 0.000 NULL NULL - no_errors FAM186A HGNC ENSG00000185958 231 0 0.00 349 213 37.90 - - - GATA3 0 genome.wustl.edu 37 10 8115874 8115875 + Frame_Shift_Ins INS - - G TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 10 8115874 8115875 - G INS GATA3 ENST00000379328 human ensembl 69_37n +1 known frame_shift_ins c.1223_1224 p.P409fs 0.903:0.359 pirsf_TF_GATA-1/2/3 pfam_Znf_GATA,smart_Znf_GATA,pirsf_TF_GATA-1/2/3,pfscan_Znf_GATA,prints_Znf_GATA - no_errors GATA3 HGNC ENSG00000107485 111 0 0.00 116 62 34.83 - - - GNAT2 0 genome.wustl.edu 37 1 110151266 110151266 + Missense_Mutation SNP C C T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 1 110151266 110151266 C T SNP GNAT2 ENST00000351050 human ensembl 69_37n -1 known missense c.448 p.D150N 1.000 pfam_Gprotein_alpha_su,superfamily_GproteinA_insert,smart_Gprotein_alpha_su pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_su,prints_Gprotein_alpha_I - no_errors GNAT2 HGNC ENSG00000134183 155 0 0.00 184 130 41.40 - - - GNL3L 0 genome.wustl.edu 37 X 54574726 54574726 + Missense_Mutation SNP G G T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c X 54574726 54574726 G T SNP GNL3L ENST00000336470 human ensembl 69_37n +1 known missense c.695 p.G232V 1.000 NULL pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,prints_GTP_binding_domain - no_errors GNL3L HGNC ENSG00000130119 121 0 0.00 196 136 40.84 - - - GPLD1 0 genome.wustl.edu 37 6 24456781 24456781 + Missense_Mutation SNP C C T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 6 24456781 24456781 C T SNP GPLD1 ENST00000230036 human ensembl 69_37n -1 known missense c.1093 p.V365I 0.001 NULL pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Gprt_PLipase_D - no_errors GPLD1 HGNC ENSG00000112293 125 0 0.00 230 162 41.33 - - - HDDC2 0 genome.wustl.edu 37 6 125614019 125614019 + Missense_Mutation SNP C C T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 6 125614019 125614019 C T SNP HDDC2 ENST00000398153 human ensembl 69_37n -1 known missense c.346 p.D116N 0.998 pfam_HD_domain,smart_HD/PDEase_dom pfam_HD_domain,smart_HD/PDEase_dom - no_errors HDDC2 HGNC ENSG00000111906 175 0 0.00 190 145 43.28 - - - INTS8 0 genome.wustl.edu 37 8 95892348 95892348 + Nonsense_Mutation SNP C C G TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 8 95892348 95892348 C G SNP INTS8 ENST00000520526 human ensembl 69_37n +1 novel nonsense c.2288 p.S763* 0.897 NULL NULL - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region INTS8 HGNC ENSG00000164941 100 0 0.00 150 88 36.97 - - - IQSEC3 0 genome.wustl.edu 37 12 247616 247616 + Missense_Mutation SNP A A T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 12 247616 247616 A T SNP IQSEC3 ENST00000326261 human ensembl 69_37n +1 known missense c.1087 p.S363C 0.999 NULL pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7 - no_errors IQSEC3 HGNC ENSG00000120645 18 0 0.00 14 18 56.25 - - - KIF17 0 genome.wustl.edu 37 1 21014005 21014005 + Missense_Mutation SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 1 21014005 21014005 G A SNP KIF17 ENST00000247986 human ensembl 69_37n -1 known missense c.1814 p.P605L 0.001 NULL pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 19 0 0.00 22 8 26.67 - - - MAP2K4 0 genome.wustl.edu 37 17 11998971 11998972 + Frame_Shift_Ins INS - - C TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 17 11998971 11998972 - C INS MAP2K4 ENST00000415385 human ensembl 69_37n +1 known frame_shift_ins c.506_507 p.Y171fs 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 194 0 0.00 117 225 65.79 - - - MAT2B 0 genome.wustl.edu 37 5 162943532 162943532 + Missense_Mutation SNP G G T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 5 162943532 162943532 G T SNP MAT2B ENST00000321757 human ensembl 69_37n +1 known missense c.535 p.V179F 1.000 pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_3Beta_OHSteriod_DH/Estase pfam_dTDP_dehydrorham_reduct,pfam_Epimerase_deHydtase,pfam_Polysac_CapD-like,pfam_3Beta_OHSteriod_DH/Estase - no_errors MAT2B HGNC ENSG00000038274 131 0 0.00 269 147 35.34 - - - NWD1 0 genome.wustl.edu 37 19 16860188 16860188 + Silent SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 19 16860188 16860188 G A SNP NWD1 ENST00000379808 human ensembl 69_37n +1 known silent c.735 p.P245 0.558 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors NWD1 HGNC ENSG00000188039 35 0 0.00 26 27 50.94 - - - OR2Z1 0 genome.wustl.edu 37 19 8841539 8841539 + Missense_Mutation SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 19 8841539 8841539 G A SNP OR2Z1 ENST00000324060 human ensembl 69_37n +1 known missense c.149 p.R50H 0.000 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 OR2Z1 HGNC ENSG00000181733 121 1 0.82 214 171 44.42 - - - PCDHAC1 0 genome.wustl.edu 37 5 140307132 140307132 + Missense_Mutation SNP G G C TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 5 140307132 140307132 G C SNP PCDHAC1 ENST00000253807 human ensembl 69_37n +1 known missense c.655 p.V219L 0.863 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 PCDHAC1 HGNC ENSG00000248383 26 0 0.00 23 21 47.73 - - - PLD5 0 genome.wustl.edu 37 1 242253346 242253346 + Missense_Mutation SNP G G T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 1 242253346 242253346 G T SNP PLD5 ENST00000536534 human ensembl 69_37n -1 known missense c.1421 p.A474E 1.000 NULL smart_PLipase_D/transphosphatidylase - no_errors PLD5 HGNC ENSG00000180287 209 0 0.00 462 205 30.73 - - - PRMT7 0 genome.wustl.edu 37 16 68389705 68389705 + Missense_Mutation SNP C C G TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 16 68389705 68389705 C G SNP PRMT7 ENST00000339507 human ensembl 69_37n +1 known missense c.1730 p.P577R 0.171 pirsf_Arg_MeTrfase_PRMT7 pfam_Ribosomal-L11_MeTrfase_PrmA,pirsf_Arg_MeTrfase_PRMT7 - no_errors PRMT7 HGNC ENSG00000132600 29 0 0.00 2 13 86.67 - - - PTBP1 0 genome.wustl.edu 37 19 808664 808664 + Missense_Mutation SNP C C G TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 19 808664 808664 C G SNP PTBP1 ENST00000356948 human ensembl 69_37n +1 known missense c.1365 p.D455E 1.000 tigrfam_HnRNP-L_PTB pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB - no_errors PTBP1 HGNC ENSG00000011304 25 0 0.00 36 24 40.00 - - - SLC51B 0 genome.wustl.edu 37 15 65345362 65345362 + Missense_Mutation SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 15 65345362 65345362 G A SNP SLC51B ENST00000334287 human ensembl 69_37n +1 known missense c.247 p.A83T 0.000 NULL NULL - no_errors SLC51B HGNC ENSG00000186198 176 0 0.00 209 141 40.06 - - - SRCAP 0 genome.wustl.edu 37 16 30718965 30718965 + Missense_Mutation SNP G G A TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 16 30718965 30718965 G A SNP SRCAP ENST00000262518 human ensembl 69_37n +1 known missense c.565 p.A189T 1.000 pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd 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 101 0 0.00 287 121 29.66 - - - STXBP2 0 genome.wustl.edu 37 19 7712301 7712301 + Missense_Mutation SNP C C T TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 19 7712301 7712301 C T SNP STXBP2 ENST00000441779 human ensembl 69_37n +1 known missense c.1633 p.L545F 0.998 pfam_Sec1-like,superfamily_Sec1-like pfam_Sec1-like,superfamily_Sec1-like - no_errors STXBP2 HGNC ENSG00000076944 19 0 0.00 9 18 66.67 - - - TBX3 0 genome.wustl.edu 37 12 115118687 115118688 + Frame_Shift_Ins INS - - C TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 12 115118687 115118688 - C INS TBX3 ENST00000257566 human ensembl 69_37n -1 known frame_shift_ins c.654_653 p.F219fs 1.000:1.000 pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box pfam_TF_T-box,pfam_TBX,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box - no_errors TBX3 HGNC ENSG00000135111 128 0 0.00 226 132 36.87 - - - TRIM64DP 0 genome.wustl.edu 37 11 89515256 89515257 + RNA INS - - G TCGA-AN-A0XR-01A-11D-A10G-09 TCGA-AN-A0XR-10A-01D-A117-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx e7dc7492-3a84-49c7-8dea-8f508b53dc40 974aff12-3ec4-41e2-852a-837a513edd6c 11 89515256 89515257 - G INS TRIM64DP ENST00000532821 human ensembl 69_37n +1 known rna NULL NULL 0.997:0.998 - - - no_errors TRIM64DP HGNC ENSG00000254751 95 0 0.00 126 74 37.00 - - -