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 ABCA9 0 genome.wustl.edu 37 17 67017883 67017883 + Missense_Mutation SNP C C G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 17 67017883 67017883 C G SNP ABCA9 ENST00000340001 human ensembl 69_37n -1 known missense c.2401 p.D801H 1.000 NULL pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 49 0 0.00 36 90 71.43 - - - ABHD6 0 genome.wustl.edu 37 3 58260470 58260470 + Frame_Shift_Del DEL C C - TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 3 58260470 58260470 C - DEL ABHD6 ENST00000295962 human ensembl 69_37n +1 known frame_shift_del c.609 p.P204fs 1.000 pfam_AB_hydrolase_1,pfam_Ndr pfam_AB_hydrolase_1,pfam_Ndr,prints_AB_hydrolase_1,prints_Epox_hydrolase-like - no_errors ABHD6 HGNC ENSG00000163686 49 0 0.00 28 48 63.16 - - - ACTL6B 0 genome.wustl.edu 37 7 100245130 100245131 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 7 100245130 100245131 - G INS ACTL6B ENST00000160382 human ensembl 69_37n -1 known frame_shift_ins c.696_695 p.N233fs 1.000:1.000 pfam_Actin-like,smart_Actin-like pfam_Actin-like,smart_Actin-like,prints_Actin-like - no_errors ACTL6B HGNC ENSG00000077080 28 0 0.00 45 7 13.46 - - - AGAP6 0 genome.wustl.edu 37 10 51769058 51769058 + Silent SNP G G A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 10 51769058 51769058 G A SNP AGAP6 ENST00000374056 human ensembl 69_37n +1 known silent c.1173 p.P391 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_ArfGAP,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP - no_errors AGAP6 HGNC ENSG00000204149 21 0 0.00 8 11 47.83 - - - ANTXR2 0 genome.wustl.edu 37 4 80905985 80905986 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 4 80905985 80905986 - G INS ANTXR2 ENST00000307333 human ensembl 69_37n -1 known frame_shift_ins c.1074_1073 p.A359fs 0.994:0.992 pirsf_Anthrax_toxin_rcpt pirsf_Anthrax_toxin_rcpt,pfam_Anthrax_toxin_rcpt_C,pfam_Anthrax_toxin_rcpt_extracel,pfam_VWF_A,superfamily_Ig_E-set,smart_VWF_A,pfscan_VWF_A - no_errors ANTXR2 HGNC ENSG00000163297 188 0 0.00 264 33 11.11 - - - ATP2A1 0 genome.wustl.edu 37 16 28909621 28909621 + Missense_Mutation SNP C C T TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 16 28909621 28909621 C T SNP ATP2A1 ENST00000357084 human ensembl 69_37n +1 known missense c.1613 p.T538M 1.000 superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Ca-transp pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,tigrfam_ATPase_P-typ_Ca-transp,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP2A1 HGNC ENSG00000196296 52 0 0.00 43 37 46.25 - - - B4GALNT1 0 genome.wustl.edu 37 12 58025102 58025103 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 12 58025102 58025103 - C INS B4GALNT1 ENST00000341156 human ensembl 69_37n -1 known frame_shift_ins c.264_263 p.L89fs 0.004:0.099 pirsf_GM2_synthase pfam_Glyco_trans_2,pirsf_GM2_synthase - no_errors B4GALNT1 HGNC ENSG00000135454 39 0 0.00 63 8 11.27 - - - BCL9L 0 genome.wustl.edu 37 11 118770651 118770652 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 11 118770651 118770652 - G INS BCL9L ENST00000334801 human ensembl 69_37n -1 known frame_shift_ins c.3381_3380 p.P1128fs 0.988:0.996 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9L HGNC ENSG00000186174 49 0 0.00 57 9 13.64 - - - C14orf180 0 genome.wustl.edu 37 14 105054102 105054103 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 14 105054102 105054103 - C INS C14orf180 ENST00000410013 human ensembl 69_37n +1 known frame_shift_ins c.128_129 p.S46fs 0.035:0.048 NULL NULL - no_errors C14orf180 HGNC ENSG00000184601 36 0 0.00 11 2 15.38 - - - CHRNB2 0 genome.wustl.edu 37 1 154543819 154543819 + Missense_Mutation SNP C C T TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 1 154543819 154543819 C T SNP CHRNB2 ENST00000368476 human ensembl 69_37n +1 known missense c.520 p.R174C 1.000 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 56 0 0.00 74 22 22.92 - - - CYP2D6 0 genome.wustl.edu 37 22 42524213 42524214 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 22 42524213 42524214 - G INS CYP2D6 ENST00000360608 human ensembl 69_37n -1 known frame_shift_ins c.806_805 p.R269fs 0.996:0.947 pfam_Cyt_P450,superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2D6 HGNC ENSG00000100197 32 0 0.00 29 5 14.71 - - - DENND4C 0 genome.wustl.edu 37 9 19296154 19296154 + Missense_Mutation SNP C C T TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 9 19296154 19296154 C T SNP DENND4C ENST00000380437 human ensembl 69_37n +1 known missense c.242 p.S81L 1.000 pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom pfam_DENN_dom,pfam_dDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND4C HGNC ENSG00000137145 83 0 0.00 334 233 41.02 - - - EGR1 0 genome.wustl.edu 37 5 137803131 137803132 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 5 137803131 137803132 - C INS EGR1 ENST00000239938 human ensembl 69_37n +1 known frame_shift_ins c.993_994 p.H333fs 0.502:1.000 NULL pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors EGR1 HGNC ENSG00000120738 64 0 0.00 20 4 16.67 - - - EIF2C1 0 genome.wustl.edu 37 1 36381040 36381040 + Missense_Mutation SNP A A G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 1 36381040 36381040 A G SNP EIF2C1 ENST00000373204 human ensembl 69_37n +1 known missense c.1925 p.Y642C 1.000 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors EIF2C1 HGNC ENSG00000092847 43 0 0.00 163 100 37.88 - - - ETV5 0 genome.wustl.edu 37 3 185823093 185823093 + Splice_Site SNP C C T TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 3 185823093 185823093 C T SNP ETV5 ENST00000537818 human ensembl 69_37n -1 known splice_site c.358+1 e5+1 1.000 - - - no_errors ETV5 HGNC ENSG00000244405 84 0 0.00 80 46 36.51 - - - EYA1 0 genome.wustl.edu 37 8 72211886 72211886 + Missense_Mutation SNP T T C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 8 72211886 72211886 T C SNP EYA1 ENST00000340726 human ensembl 69_37n -1 known missense c.626 p.N209S 1.000 NULL pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA - no_errors EYA1 HGNC ENSG00000104313 90 0 0.00 329 227 40.83 - - - FANCF 0 genome.wustl.edu 37 11 22646798 22646798 + Missense_Mutation SNP T T A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 11 22646798 22646798 T A SNP FANCF ENST00000327470 human ensembl 69_37n -1 known missense c.559 p.R187W 0.000 NULL NULL - no_errors FANCF HGNC ENSG00000183161 20 0 0.00 26 7 21.21 - - - FLCN 0 genome.wustl.edu 37 17 17119708 17119709 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 17 17119708 17119709 - G INS FLCN ENST00000285071 human ensembl 69_37n -1 known frame_shift_ins c.1286_1285 p.H429fs 1.000:1.000 NULL pfam_Folliculin - no_errors FLCN HGNC ENSG00000154803 54 0 0.00 13 4 23.53 - - - ILF3 0 genome.wustl.edu 37 19 10792682 10792683 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 19 10792682 10792683 - C INS ILF3 ENST00000449870 human ensembl 69_37n +1 known frame_shift_ins c.1194_1195 p.Q400fs 1.000:1.000 pfscan_Ds-RNA-bd pfam_DZF,pfam_Ds-RNA-bd,smart_DZF,smart_Ds-RNA-bd,pfscan_Ds-RNA-bd - no_errors ILF3 HGNC ENSG00000129351 39 0 0.00 21 3 12.50 - - - IRS4 0 genome.wustl.edu 37 X 107977802 107977803 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 X 107977802 107977803 - C INS IRS4 ENST00000372129 human ensembl 69_37n -1 known frame_shift_ins c.1773_1772 p.K592fs 0.031:0.016 NULL pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1 - no_errors IRS4 HGNC ENSG00000133124 106 0 0.00 53 9 14.52 - - - KIAA1210 0 genome.wustl.edu 37 X 118230488 118230488 + Missense_Mutation SNP G G C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 X 118230488 118230488 G C SNP KIAA1210 ENST00000402510 human ensembl 69_37n -1 known missense c.1235 p.P412R 0.319 NULL NULL - no_errors KIAA1210 HGNC ENSG00000250423 102 0 0.00 164 354 68.08 - - - KIAA1211 0 genome.wustl.edu 37 4 57180616 57180616 + Silent SNP G G A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 4 57180616 57180616 G A SNP KIAA1211 ENST00000504228 human ensembl 69_37n +1 known silent c.948 p.A316 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 36 0 0.00 8 26 76.47 - - - LOXL3 0 genome.wustl.edu 37 2 74763923 74763924 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 2 74763923 74763924 - C INS LOXL3 ENST00000264094 human ensembl 69_37n -1 known frame_shift_ins c.825_824 p.A277fs 0.118:0.001 pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt pfam_Lysyl_oxidase,pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_Lysyl_oxidase,prints_Srcr_rcpt,pfscan_Srcr_rcpt - no_errors LOXL3 HGNC ENSG00000115318 55 0 0.00 99 14 12.39 - - - MAPRE3 0 genome.wustl.edu 37 2 27248516 27248517 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 2 27248516 27248517 - C INS MAPRE3 ENST00000233121 human ensembl 69_37n +1 known frame_shift_ins c.535_536 p.C182fs 0.999:1.000 NULL pfam_EB1_C,pfam_CH-domain,superfamily_CH-domain,pfscan_CH-domain - no_errors MAPRE3 HGNC ENSG00000084764 46 0 0.00 105 13 11.02 - - - MBOAT1 0 genome.wustl.edu 37 6 20152998 20152998 + Silent SNP C C T TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 6 20152998 20152998 C T SNP MBOAT1 ENST00000324607 human ensembl 69_37n -1 known silent c.102 p.V34 1.000 NULL pfam_MBOAT_fam - no_errors MBOAT1 HGNC ENSG00000172197 118 0 0.00 174 120 40.68 - - - MIR328 0 genome.wustl.edu 37 16 67236285 67236286 + RNA INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 16 67236285 67236286 - C INS MIR328 ENST00000385213 human ensembl 69_37n -1 known rna NULL NULL 1.000:1.000 - - - no_errors MIR328 HGNC ENSG00000207948 37 0 0.00 6 3 33.33 - - - NCR2 0 genome.wustl.edu 37 6 41318437 41318437 + Missense_Mutation SNP C C G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 6 41318437 41318437 C G SNP NCR2 ENST00000373086 human ensembl 69_37n +1 known missense c.809 p.P270R 0.001 NULL pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like - no_errors NCR2 HGNC ENSG00000096264 77 0 0.00 83 60 41.96 - - - NIPAL1 0 genome.wustl.edu 37 4 48037625 48037625 + Silent SNP G G A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 4 48037625 48037625 G A SNP NIPAL1 ENST00000295461 human ensembl 69_37n +1 known silent c.669 p.L223 1.000 pfam_Mg_trans_NIPA pfam_Mg_trans_NIPA,pfam_DMT - no_errors NIPAL1 HGNC ENSG00000163293 41 0 0.00 56 101 64.33 - - - NPRL3 0 genome.wustl.edu 37 16 136809 136809 + Silent SNP C C G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 16 136809 136809 C G SNP NPRL3 ENST00000399953 human ensembl 69_37n -1 known silent c.1602 p.T534 0.340 NULL pfam_NPR3,superfamily_Galactose-bd-like - no_errors NPRL3 HGNC ENSG00000103148 64 0 0.00 19 21 52.50 - - - NRXN2 0 genome.wustl.edu 37 11 64457918 64457919 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 11 64457918 64457919 - C INS NRXN2 ENST00000265459 human ensembl 69_37n -1 known frame_shift_ins c.809_808 p.A270fs 1.000:1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl,smart_Laminin_G,smart_EGF-like,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN2 HGNC ENSG00000110076 65 0 0.00 187 26 12.21 - - - P4HTM 0 genome.wustl.edu 37 3 49043192 49043193 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 3 49043192 49043193 - C INS P4HTM ENST00000343546 human ensembl 69_37n +1 known frame_shift_ins c.1239_1240 p.L415fs 0.017:0.124 smart_Pro_4_hyd_alph pfam_Oxoglu/Fe-dep_dioxygenase,smart_Pro_4_hyd_alph - no_errors P4HTM HGNC ENSG00000178467 59 0 0.00 23 3 11.54 - - - PABPC1 0 genome.wustl.edu 37 8 101730036 101730037 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 8 101730036 101730037 - C INS PABPC1 ENST00000318607 human ensembl 69_37n -1 known frame_shift_ins c.468_467 p.M158fs 1.000:1.000 pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC1 HGNC ENSG00000070756 45 0 0.00 134 22 14.10 - - - PLEKHG2 0 genome.wustl.edu 37 19 39908303 39908303 + Missense_Mutation SNP C C T TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 19 39908303 39908303 C T SNP PLEKHG2 ENST00000409794 human ensembl 69_37n +1 known missense c.853 p.R285C 1.000 superfamily_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG2 HGNC ENSG00000090924 37 0 0.00 31 19 38.00 - - - PROZ 0 genome.wustl.edu 37 13 113814455 113814455 + Missense_Mutation SNP A A C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 13 113814455 113814455 A C SNP PROZ ENST00000375547 human ensembl 69_37n +1 known missense c.198 p.E66D 0.996 pirsf_Pept_S1A_FX,pfam_GLA_domain,superfamily_GLA_domain,smart_GLA_domain,prints_GLA_domain,pfscan_GLA_domain pirsf_Pept_S1A_FX,pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EGF-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Peptidase_S1_S6,prints_GLA_domain,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6 - no_errors PROZ HGNC ENSG00000126231 57 0 0.00 12 19 61.29 - - - PRRC2B 0 genome.wustl.edu 37 9 134350786 134350787 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 9 134350786 134350787 - G INS PRRC2B ENST00000357304 human ensembl 69_37n +1 known frame_shift_ins c.3270_3271 p.V1092fs 0.000:0.162 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 9 0 0.00 4 2 33.33 - - - PTK2B 0 genome.wustl.edu 37 8 27315867 27315867 + Missense_Mutation SNP G G A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 8 27315867 27315867 G A SNP PTK2B ENST00000346049 human ensembl 69_37n +1 known missense c.2871 p.M957I 1.000 pfam_Focal_adhesion_kin_target_dom,superfamily_Focal_adhesion_kin_target_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PTK2B HGNC ENSG00000120899 31 0 0.00 38 23 37.70 - - - QPCT 0 genome.wustl.edu 37 2 37586965 37586966 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 2 37586965 37586966 - G INS QPCT ENST00000338415 human ensembl 69_37n +1 known frame_shift_ins c.510_511 p.A170fs 0.561:1.000 pfam_Peptidase_M28 pfam_Peptidase_M28 - no_errors QPCT HGNC ENSG00000115828 39 0 0.00 111 69 38.33 - - - RBM47 0 genome.wustl.edu 37 4 40440780 40440781 + Frame_Shift_Ins INS - - A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 4 40440780 40440781 - A INS RBM47 ENST00000295971 human ensembl 69_37n -1 known frame_shift_ins c.131_130 p.Y44fs 1.000:1.000 tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors RBM47 HGNC ENSG00000163694 10 0 0.00 0 5 100.00 - - - RPS9 0 genome.wustl.edu 37 19 54710423 54710424 + Frame_Shift_Ins INS - - TT TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 19 54710423 54710424 - TT INS RPS9 ENST00000436445 human ensembl 69_37n +1 known frame_shift_ins c.410_411 p.R138fs 0.940:0.759 NULL pfam_Ribosomal_S4/S9_N,pfam_S4_RNA-bd,tigrfam_Ribosomal_S4/S9_euk/arc - no_errors RPS9 HGNC ENSG00000170889 15 0 0.00 33 10 23.26 - - - RYR3 0 genome.wustl.edu 37 15 34151902 34151902 + Missense_Mutation SNP G G A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 15 34151902 34151902 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.14269 p.V4757I 1.000 pfam_Ion_trans_dom pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 196 0 0.00 274 478 63.56 - - - SLC39A5 0 genome.wustl.edu 37 12 56630189 56630189 + Silent SNP A A C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 12 56630189 56630189 A C SNP SLC39A5 ENST00000266980 human ensembl 69_37n +1 known silent c.955 p.R319 0.875 pfam_ZIP pfam_ZIP - no_errors SLC39A5 HGNC ENSG00000139540 70 0 0.00 16 36 69.23 - - - TP53 0 genome.wustl.edu 37 17 7578190 7578190 + Missense_Mutation SNP T T C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 17 7578190 7578190 T C SNP TP53 ENST00000269305 human ensembl 69_37n -1 known missense c.659 p.Y220C 0.998 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 95 0 0.00 180 394 68.52 - - - USP35 0 genome.wustl.edu 37 11 77920855 77920856 + Frame_Shift_Ins INS - - C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 11 77920855 77920856 - C INS USP35 ENST00000529308 human ensembl 69_37n +1 known frame_shift_ins c.1954_1955 p.T655fs 0.000:0.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19 - no_errors USP35 HGNC ENSG00000118369 138 0 0.00 414 56 11.91 - - - WASL 0 genome.wustl.edu 37 7 123335910 123335910 + Silent SNP T T C TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 7 123335910 123335910 T C SNP WASL ENST00000223023 human ensembl 69_37n -1 known silent c.639 p.G213 1.000 pfam_PAK_box_Rho-bd,superfamily_WASP_C,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom - no_errors WASL HGNC ENSG00000106299 69 0 0.00 138 76 35.51 - - - ZMYM3 0 genome.wustl.edu 37 X 70472962 70472963 + Frame_Shift_Ins INS - - G TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 X 70472962 70472963 - G INS ZMYM3 ENST00000373988 human ensembl 69_37n -1 known frame_shift_ins c.144_143 p.G49fs 0.994:1.000 NULL pfam_Znf_MYM,pfam_DUF3504,smart_TRASH - no_errors ZMYM3 HGNC ENSG00000147130 30 0 0.00 30 4 11.76 - - - ZNF641 0 genome.wustl.edu 37 12 48741042 48741043 + Frame_Shift_Ins INS - - CG TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 12 48741042 48741043 - CG INS ZNF641 ENST00000301042 human ensembl 69_37n -1 known frame_shift_ins c.311_310 p.G104fs 1.000:0.984 superfamily_Krueppel-associated_box 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 ZNF641 HGNC ENSG00000167528 49 0 0.00 6 16 72.73 - - - ZNF773 0 genome.wustl.edu 37 19 58017763 58017763 + Silent SNP G G A TCGA-A2-A0T2-01A-11W-A097-09 TCGA-A2-A0T2-10A-01D-A099-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx c7918143-dbce-45b3-8d24-2993a9e2b7f4 5b5581e0-8d87-47db-a789-bc943c4cd6e9 19 58017763 58017763 G A SNP ZNF773 ENST00000282292 human ensembl 69_37n +1 known silent c.300 p.E100 0.050 NULL 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 ZNF773 HGNC ENSG00000152439 67 0 0.00 199 132 39.76 - - -