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 AACS 0 genome.wustl.edu 37 12 125561123 125561123 + Missense_Mutation SNP C C G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 12 125561123 125561123 C G SNP AACS ENST00000316519 human ensembl 69_37n +1 known missense c.324 p.H108Q 0.876 pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Acac_CoA_synth - no_errors AACS HGNC ENSG00000081760 151 0 0.00 118 22 15.71 - - - ALDH2 0 genome.wustl.edu 37 12 112229926 112229927 + Frame_Shift_Ins INS - - G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 12 112229926 112229927 - G INS ALDH2 ENST00000261733 human ensembl 69_37n +1 known frame_shift_ins c.857_858 p.K289fs 1.000:0.991 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH2 HGNC ENSG00000111275 34 0 0.00 35 4 10.26 - - - ARHGEF2 0 genome.wustl.edu 37 1 155920838 155920838 + Missense_Mutation SNP C C G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 155920838 155920838 C G SNP ARHGEF2 ENST00000368315 human ensembl 69_37n -1 known missense c.2488 p.A830P 0.999 NULL pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_DH-domain - no_errors ARHGEF2 HGNC ENSG00000116584 8 0 0.00 18 5 21.74 - - - ATP10B 0 genome.wustl.edu 37 5 160047558 160047558 + Missense_Mutation SNP G G T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 5 160047558 160047558 G T SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known missense c.2212 p.L738I 0.910 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 39 0 0.00 49 21 30.00 - - - ATP10B 0 genome.wustl.edu 37 5 160047559 160047559 + Silent SNP T T A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 5 160047559 160047559 T A SNP ATP10B ENST00000327245 human ensembl 69_37n -1 known silent c.2211 p.T737 0.001 superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,tigrfam_ATPase_P-typ_Plipid-transl pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr - no_errors ATP10B HGNC ENSG00000118322 40 0 0.00 50 21 29.58 - - - BIRC6 0 genome.wustl.edu 37 2 32702619 32702619 + Missense_Mutation SNP T T A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 32702619 32702619 T A SNP BIRC6 ENST00000421745 human ensembl 69_37n +1 known missense c.7036 p.C2346S 1.000 NULL pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2 - no_errors BIRC6 HGNC ENSG00000115760 179 0 0.00 135 49 26.63 - - - C10orf12 0 genome.wustl.edu 37 10 98744677 98744677 + Missense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 10 98744677 98744677 C T SNP C10orf12 ENST00000286067 human ensembl 69_37n +1 known missense c.3530 p.A1177V 0.000 NULL NULL - no_errors C10orf12 HGNC ENSG00000155640 143 0 0.00 99 15 13.04 - - - CACNA1E 0 genome.wustl.edu 37 1 181688962 181688962 + Nonsense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 181688962 181688962 C T SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known nonsense c.1714 p.R572* 0.998 pfam_Ion_trans_dom,pfam_PKD1_2_channel pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 229 0 0.00 112 103 47.91 - - - CLCN4 0 genome.wustl.edu 37 X 10181872 10181872 + Silent SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 X 10181872 10181872 C T SNP CLCN4 ENST00000380833 human ensembl 69_37n +1 known silent c.1728 p.I576 1.000 superfamily_Cl-channel_core,prints_Cl-channel_volt-gated pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-4 - no_errors CLCN4 HGNC ENSG00000073464 107 0 0.00 57 20 25.97 - - - COX4I2 0 genome.wustl.edu 37 20 30227901 30227901 + Splice_Site SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 20 30227901 30227901 G A SNP COX4I2 ENST00000376075 human ensembl 69_37n +1 known splice_site c.247+1 e2+1 1.000 - - - no_errors COX4I2 HGNC ENSG00000131055 35 0 0.00 25 10 28.57 - - - CSMD2 0 genome.wustl.edu 37 1 34312489 34312489 + Nonsense_Mutation SNP G G C TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 34312489 34312489 G C SNP CSMD2 ENST00000373381 human ensembl 69_37n -1 known nonsense c.1029 p.Y343* 1.000 pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB 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 CSMD2 HGNC ENSG00000121904 79 0 0.00 152 21 12.14 - - - CXCR3 0 genome.wustl.edu 37 X 70836243 70836243 + Missense_Mutation SNP G G T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 X 70836243 70836243 G T SNP CXCR3 ENST00000373691 human ensembl 69_37n -1 known missense c.1220 p.T407N 1.000 prints_Chemokine_CXCR3 pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_Chemokine_CXCR3,prints_7TM_GPCR_Rhodpsn,prints_Chemokine_CXCR4,prints_Chemokine_rcpt,prints_ATII_rcpt - no_errors CXCR3 HGNC ENSG00000186810 49 0 0.00 54 8 12.90 - - - DOCK10 0 genome.wustl.edu 37 2 225727415 225727415 + Missense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 225727415 225727415 C T SNP DOCK10 ENST00000258390 human ensembl 69_37n -1 known missense c.1651 p.G551R 1.000 NULL pfam_DOCK,pfam_DUF3398,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors DOCK10 HGNC ENSG00000135905 284 0 0.00 76 20 20.83 - - - DOCK5 0 genome.wustl.edu 37 8 25261154 25261154 + Missense_Mutation SNP G G T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 8 25261154 25261154 G T SNP DOCK5 ENST00000276440 human ensembl 69_37n +1 known missense c.5007 p.R1669S 0.960 NULL pfam_DOCK,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_ARM-type_fold,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK5 HGNC ENSG00000147459 135 0 0.00 63 51 44.74 - - - DYSF 0 genome.wustl.edu 37 2 71738993 71738993 + Frame_Shift_Del DEL C C - TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 71738993 71738993 C - DEL DYSF ENST00000413539 human ensembl 69_37n +1 known frame_shift_del c.399 p.P134fs 0.997 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 52 0 0.00 29 17 36.96 - - - DYSF 0 genome.wustl.edu 37 2 71739000 71739001 + Frame_Shift_Ins INS - - A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 71739000 71739001 - A INS DYSF ENST00000413539 human ensembl 69_37n +1 known frame_shift_ins c.406_407 p.P136fs 0.001:0.019 superfamily_C2_Ca/lipid-bd_dom_CaLB pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,pfam_Ferlin_A-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_MFS_dom_general_subst_transpt,smart_C2_Ca-dep,smart_Peroxin/Ferlin,pfscan_C2_membr_targeting - no_errors DYSF HGNC ENSG00000135636 52 0 0.00 30 16 34.78 - - - FAM157B 0 genome.wustl.edu 37 9 141107536 141107537 + RNA INS - - GCA TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 9 141107536 141107537 - GCA INS FAM157B ENST00000446912 human ensembl 69_37n +1 known rna NULL NULL 0.033:0.036 - - - no_errors FAM157B HGNC ENSG00000233013 30 0 0.00 20 7 25.93 - - - FAM5C 0 genome.wustl.edu 37 1 190067727 190067727 + Silent SNP A A G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 190067727 190067727 A G SNP FAM5C ENST00000367462 human ensembl 69_37n -1 known silent c.1722 p.N574 0.997 NULL pfam_MACPF,smart_MACPF - no_errors FAM5C HGNC ENSG00000162670 102 1 0.97 113 28 19.86 - - - GLTSCR1 0 genome.wustl.edu 37 19 48197890 48197891 + Frame_Shift_Ins INS - - C TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 19 48197890 48197891 - C INS GLTSCR1 ENST00000396720 human ensembl 69_37n +1 known frame_shift_ins c.2802_2803 p.P937fs 0.044:0.226 NULL NULL - no_errors GLTSCR1 HGNC ENSG00000063169 10 0 0.00 4 2 33.33 - - - HDAC6 0 genome.wustl.edu 37 X 48674948 48674948 + Missense_Mutation SNP G G T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 X 48674948 48674948 G T SNP HDAC6 ENST00000444343 human ensembl 69_37n +1 known missense c.1741 p.D581Y 0.998 pfam_His_deacetylse_dom pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse - no_errors HDAC6 HGNC ENSG00000094631 110 0 0.00 86 13 13.13 - - - HECTD4 0 genome.wustl.edu 37 12 112600859 112600860 + Frame_Shift_Ins INS - - G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 12 112600859 112600860 - G INS HECTD4 ENST00000377560 human ensembl 69_37n -1 known frame_shift_ins c.12591_12590 p.D4198fs 0.555:1.000 pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT pfam_HECT,superfamily_HECT,superfamily_ConA-like_lec_gl,smart_HECT,pfscan_HECT - no_errors HECTD4 HGNC ENSG00000173064 36 0 0.00 44 5 10.20 - - - HIVEP1 0 genome.wustl.edu 37 6 12125489 12125489 + Missense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 6 12125489 12125489 C T SNP HIVEP1 ENST00000379388 human ensembl 69_37n +1 known missense c.5461 p.P1821S 0.993 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 179 0 0.00 75 23 23.23 - - - IFT140 0 genome.wustl.edu 37 16 1561044 1561045 + Frame_Shift_Ins INS - - C TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 16 1561044 1561045 - C INS IFT140 ENST00000426508 human ensembl 69_37n -1 known frame_shift_ins c.4290_4289 p.L1431fs 0.000:0.968 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors IFT140 HGNC ENSG00000187535 11 0 0.00 29 15 34.09 - - - IFT88 0 genome.wustl.edu 37 13 21170288 21170289 + Frame_Shift_Ins INS - - T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 13 21170288 21170289 - T INS IFT88 ENST00000319980 human ensembl 69_37n +1 known frame_shift_ins c.427_426 p.E145fs 1.000:0.996 NULL pfam_TPR-1,pfam_TPR_2,pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat,smart_Sel1-like,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors IFT88 HGNC ENSG00000032742 140 0 0.00 17 2 10.53 - - - ITGA4 0 genome.wustl.edu 37 2 182339924 182339924 + Silent SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 182339924 182339924 G A SNP ITGA4 ENST00000397033 human ensembl 69_37n +1 known silent c.465 p.K155 0.984 NULL pfam_Integrin_alpha-2,pfam_FG-GAP,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA4 HGNC ENSG00000115232 228 0 0.00 64 19 22.89 - - - KCNN3 0 genome.wustl.edu 37 1 154842243 154842243 + Silent SNP A A C TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 154842243 154842243 A C SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known silent c.198 p.L66 0.000 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 12 0 0.00 55 13 19.12 - - - KCNN3 0 genome.wustl.edu 37 1 154842244 154842244 + Missense_Mutation SNP A A T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 154842244 154842244 A T SNP KCNN3 ENST00000271915 human ensembl 69_37n -1 known missense c.197 p.L66H 0.166 NULL pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_Ion_trans_2,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK - no_errors KCNN3 HGNC ENSG00000143603 12 0 0.00 54 12 17.91 - - - LRRC37A3 0 genome.wustl.edu 37 17 62892271 62892271 + Missense_Mutation SNP A A T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 17 62892271 62892271 A T SNP LRRC37A3 ENST00000319651 human ensembl 69_37n -1 known missense c.1105 p.S369T 0.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRC37A3 HGNC ENSG00000176809 15 0 0.00 12 6 33.33 - - - LRRC7 0 genome.wustl.edu 37 1 70291446 70291446 + Missense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 70291446 70291446 C T SNP LRRC7 ENST00000035383 human ensembl 69_37n +1 known missense c.323 p.P108L 1.000 pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 209 0 0.00 37 7 15.91 - - - LRRC7 0 genome.wustl.edu 37 1 70504659 70504659 + Missense_Mutation SNP G G C TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 70504659 70504659 G C SNP LRRC7 ENST00000035383 human ensembl 69_37n +1 known missense c.3038 p.S1013T 0.833 NULL pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors LRRC7 HGNC ENSG00000033122 61 0 0.00 56 7 11.11 - - - MAGEL2 0 genome.wustl.edu 37 15 23890432 23890432 + Missense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 15 23890432 23890432 C T SNP MAGEL2 ENST00000532292 human ensembl 69_37n -1 known missense c.649 p.A217T 0.005 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEL2 HGNC ENSG00000254585 71 0 0.00 15 7 31.82 - - - MAML2 0 genome.wustl.edu 37 11 95825407 95825407 + Silent SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 11 95825407 95825407 C T SNP MAML2 ENST00000440572 human ensembl 69_37n -1 known silent c.1788 p.Q596 0.003 NULL pfam_Neuroggenic_mastermind-like_N - no_errors MAML2 HGNC ENSG00000184384 169 1 0.59 148 37 19.89 - - - MAP3K6 0 genome.wustl.edu 37 1 27685238 27685239 + Frame_Shift_Ins INS - - G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 27685238 27685239 - G INS MAP3K6 ENST00000357582 human ensembl 69_37n -1 known frame_shift_ins c.2545_2544 p.F848fs 1.000:0.991 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,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom - no_errors MAP3K6 HGNC ENSG00000142733 58 0 0.00 40 5 11.11 - - - MBNL1 0 genome.wustl.edu 37 3 152177106 152177106 + Frame_Shift_Del DEL C C - TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 3 152177106 152177106 C - DEL MBNL1 ENST00000282486 human ensembl 69_37n +1 known frame_shift_del c.1157 p.Q387fs 1.000 NULL smart_Znf_CCCH - no_errors MBNL1 HGNC ENSG00000152601 91 0 0.00 15 2 11.76 - - - MIR524 0 genome.wustl.edu 37 19 54214334 54214334 + RNA SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 19 54214334 54214334 G A SNP MIR524 ENST00000385242 human ensembl 69_37n +1 known rna NULL NULL 0.006 - - - no_errors MIR524 HGNC ENSG00000207977 247 0 0.00 152 28 15.56 - - - MLPH 0 genome.wustl.edu 37 2 238449564 238449564 + Missense_Mutation SNP A A G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 238449564 238449564 A G SNP MLPH ENST00000432475 human ensembl 69_37n +1 known missense c.205 p.S69G 0.000 pfam_Myelin-assoc_OBP pfam_Myelin-assoc_OBP - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region MLPH HGNC ENSG00000115648 12 0 0.00 19 4 17.39 - - - MSN 0 genome.wustl.edu 37 X 64958834 64958834 + Silent SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 X 64958834 64958834 C T SNP MSN ENST00000360270 human ensembl 69_37n +1 known silent c.1347 p.A449 0.987 pirsf_ERM,pfam_ERM_C pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain - no_errors MSN HGNC ENSG00000147065 499 0 0.00 594 107 15.24 - - - MUC4 0 genome.wustl.edu 37 3 195513420 195513420 + Silent SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 3 195513420 195513420 G A SNP MUC4 ENST00000463781 human ensembl 69_37n -1 known silent c.5031 p.H1677 0.010 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EGF-like,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 31 0 0.00 71 12 14.46 - - - NTRK3 0 genome.wustl.edu 37 15 88576185 88576185 + Silent SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 15 88576185 88576185 G A SNP NTRK3 ENST00000360948 human ensembl 69_37n -1 known silent c.1488 p.A496 0.054 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_LRR-contain_N,superfamily_Kinase-like_dom,smart_LRR-contain_N,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_NGF_rcpt,prints_Tyr_kin_neurotrophic_rcpt_3,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NTRK3 HGNC ENSG00000140538 108 0 0.00 152 30 16.48 - - - NUP205 0 genome.wustl.edu 37 7 135333164 135333164 + Missense_Mutation SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 7 135333164 135333164 G A SNP NUP205 ENST00000285968 human ensembl 69_37n +1 known missense c.5899 p.A1967T 0.959 NULL pfam_DUF3414 - no_errors NUP205 HGNC ENSG00000155561 197 0 0.00 71 12 14.46 - - - OXR1 0 genome.wustl.edu 37 8 107726212 107726212 + Missense_Mutation SNP A A T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 8 107726212 107726212 A T SNP OXR1 ENST00000442977 human ensembl 69_37n +1 known missense c.1958 p.E653V 1.000 NULL pfam_TLDc,pfam_Peptidoglycan-bd_lysin,pfam_GRAM,smart_Peptidoglycan-bd_Lysin_subgr,smart_TLDc - no_errors OXR1 HGNC ENSG00000164830 108 0 0.00 28 11 28.21 - - - PDE3A 0 genome.wustl.edu 37 12 20799761 20799761 + Silent SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 12 20799761 20799761 C T SNP PDE3A ENST00000359062 human ensembl 69_37n +1 known silent c.2442 p.Y814 0.203 smart_HD/PDEase_dom pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 246 0 0.00 110 26 19.12 - - - PER3 0 genome.wustl.edu 37 1 7844971 7844972 + Frame_Shift_Ins INS - - G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 7844971 7844972 - G INS PER3 ENST00000361923 human ensembl 69_37n +1 known frame_shift_ins c.34_35 p.A14fs 0.000:0.000 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 12 0 0.00 11 2 15.38 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 92 0 0.00 79 31 27.93 - - - PIWIL1 0 genome.wustl.edu 37 12 130831527 130831527 + Silent SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 12 130831527 130831527 G A SNP PIWIL1 ENST00000245255 human ensembl 69_37n +1 known silent c.573 p.V191 1.000 superfamily_PAZ pfam_Piwi,pfam_PAZ,pfam_GAGE,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi - no_errors PIWIL1 HGNC ENSG00000125207 343 0 0.00 86 28 24.56 - - - PPM1B 0 genome.wustl.edu 37 2 44457659 44457659 + Missense_Mutation SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 44457659 44457659 G A SNP PPM1B ENST00000282412 human ensembl 69_37n +1 known missense c.1242 p.M414I 1.000 NULL pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like - no_errors PPM1B HGNC ENSG00000138032 145 0 0.00 63 25 28.41 - - - PSIP1 0 genome.wustl.edu 37 9 15490113 15490114 + Frame_Shift_Ins INS - - A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 9 15490113 15490114 - A INS PSIP1 ENST00000380733 human ensembl 69_37n -1 known frame_shift_ins c.159_158 p.L53fs 1.000:1.000 pfam_PWWP,smart_PWWP,pfscan_PWWP pfam_LEDGF,pfam_PWWP,smart_PWWP,prints_Treacle-like_TCS,pfscan_PWWP - no_errors PSIP1 HGNC ENSG00000164985 267 0 0.00 44 27 38.03 - - - RNF222 0 genome.wustl.edu 37 17 8296596 8296596 + Missense_Mutation SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 17 8296596 8296596 G A SNP RNF222 ENST00000344001 human ensembl 69_37n -1 known missense c.184 p.P62S 1.000 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF222 HGNC ENSG00000189051 15 0 0.00 17 8 32.00 - - - SCRIB 0 genome.wustl.edu 37 8 144891156 144891156 + Frame_Shift_Del DEL C C - TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 8 144891156 144891156 C - DEL SCRIB ENST00000320476 human ensembl 69_37n -1 known frame_shift_del c.1738 p.D580fs 0.044 NULL pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ - no_errors SCRIB HGNC ENSG00000180900 43 0 0.00 24 37 59.68 - - - SEC31B 0 genome.wustl.edu 37 10 102247412 102247412 + Silent SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 10 102247412 102247412 C T SNP SEC31B ENST00000370345 human ensembl 69_37n -1 known silent c.3501 p.L1167 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors SEC31B HGNC ENSG00000075826 31 0 0.00 114 15 11.63 - - - SEMA4C 0 genome.wustl.edu 37 2 97526846 97526847 + In_Frame_Ins INS - - GAG TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 2 97526846 97526847 - GAG INS SEMA4C ENST00000305476 human ensembl 69_37n -1 known in_frame_ins c.2019_2018 p.674in_frame_insS 0.625:0.993 NULL pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like - no_errors SEMA4C HGNC ENSG00000168758 9 0 0.00 5 3 37.50 - - - SETD5 0 genome.wustl.edu 37 3 9484993 9484993 + Missense_Mutation SNP T T A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 3 9484993 9484993 T A SNP SETD5 ENST00000402198 human ensembl 69_37n +1 known missense c.1079 p.V360E 1.000 pfam_SET_dom,smart_SET_dom,pfscan_SET_dom pfam_SET_dom,smart_SET_dom,pfscan_SET_dom - no_errors SETD5 HGNC ENSG00000168137 95 0 0.00 44 16 26.67 - - - SLC1A2 0 genome.wustl.edu 37 11 35327749 35327749 + Missense_Mutation SNP G G A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 11 35327749 35327749 G A SNP SLC1A2 ENST00000278379 human ensembl 69_37n -1 known missense c.602 p.P201L 0.020 pfam_Na-dicarboxylate_symporter pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter - no_errors SLC1A2 HGNC ENSG00000110436 140 1 0.71 156 85 35.27 - - - SLC27A1 0 genome.wustl.edu 37 19 17608208 17608208 + Missense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 19 17608208 17608208 C T SNP SLC27A1 ENST00000252595 human ensembl 69_37n +1 known missense c.1141 p.R381C 0.284 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors SLC27A1 HGNC ENSG00000130304 36 0 0.00 29 15 34.09 - - - TMEM132D 0 genome.wustl.edu 37 12 129559224 129559224 + Missense_Mutation SNP C C A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 12 129559224 129559224 C A SNP TMEM132D ENST00000422113 human ensembl 69_37n -1 known missense c.2496 p.Q832H 0.001 NULL NULL - no_errors TMEM132D HGNC ENSG00000151952 346 2 0.57 209 49 18.99 - - - TOM1 0 genome.wustl.edu 37 22 35695926 35695926 + Missense_Mutation SNP A A G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 22 35695926 35695926 A G SNP TOM1 ENST00000411850 human ensembl 69_37n +1 known missense c.5 p.D2G 1.000 superfamily_ENTH_VHS,pirsf_TOM1 pfam_VHS,pfam_GAT,superfamily_ENTH_VHS,smart_VHS_subgr,pirsf_TOM1,pfscan_GAT,pfscan_VHS - no_errors TOM1 HGNC ENSG00000100284 25 0 0.00 32 12 27.27 - - - TSC22D1 0 genome.wustl.edu 37 13 45148362 45148362 + Missense_Mutation SNP G G T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 13 45148362 45148362 G T SNP TSC22D1 ENST00000458659 human ensembl 69_37n -1 known missense c.1849 p.P617T 1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 66 0 0.00 35 9 20.45 - - - TSC22D1 0 genome.wustl.edu 37 13 45150041 45150042 + Frame_Shift_Ins INS - - G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 13 45150041 45150042 - G INS TSC22D1 ENST00000458659 human ensembl 69_37n -1 known frame_shift_ins c.170_169 p.D57fs 1.000:1.000 NULL pfam_TSC-22_Dip_Bun - no_errors TSC22D1 HGNC ENSG00000102804 34 0 0.00 22 19 46.34 - - - TYK2 0 genome.wustl.edu 37 19 10463112 10463113 + Frame_Shift_Ins INS - - G TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 19 10463112 10463113 - G INS TYK2 ENST00000264818 human ensembl 69_37n -1 known frame_shift_ins c.3316_3315 p.T1105fs 0.001:0.001 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N - no_errors TYK2 HGNC ENSG00000105397 14 0 0.00 16 3 15.79 - - - WNT9A 0 genome.wustl.edu 37 1 228111953 228111954 + Frame_Shift_Ins INS - - C TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 - - Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 1 228111953 228111954 - C INS WNT9A ENST00000272164 human ensembl 69_37n -1 known frame_shift_ins c.501_500 p.C168fs 1.000:1.000 pfam_Wnt,smart_Wnt,prints_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt14 - no_errors WNT9A HGNC ENSG00000143816 23 0 0.00 23 3 11.54 - - - ZNF69 0 genome.wustl.edu 37 19 12016540 12016540 + Missense_Mutation SNP C C T TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 19 12016540 12016540 C T SNP ZNF69 ENST00000429654 human ensembl 69_37n +1 known missense c.1328 p.P443L 0.993 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 ZNF69 HGNC ENSG00000198429 108 0 0.00 101 15 12.93 - - - ZNF831 0 genome.wustl.edu 37 20 57768868 57768868 + Missense_Mutation SNP C C A TCGA-AO-A0J5-01A-11W-A050-09 TCGA-AO-A0J5-10A-01W-A055-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx 93ae73f6-c355-47be-a355-faa78c0632d4 7a28e38f-8fc4-4ac7-974c-03925fab2da6 20 57768868 57768868 C A SNP ZNF831 ENST00000371030 human ensembl 69_37n +1 novel missense c.2794 p.L932M 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 30 0 0.00 15 7 31.82 - - -