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 start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF ABCB6 0 genome.wustl.edu 37 2 220083133 220083133 + Missense_Mutation SNP A A T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 220083133 220083133 A T SNP ABCB6 ENST00000265316 human ensembl 74_37 -1 known missense c.263 p.L88Q 0.219 NULL pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB6 HGNC ENSG00000115657 tier1 - - 62 0 0.00 55 8 12.70 ACADSB 0 genome.wustl.edu 37 10 124806738 124806738 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 10 124806738 124806738 C T SNP ACADSB ENST00000358776 human ensembl 74_37 +1 known missense c.914 p.A305V 1.000 pfam_AcylCo_DH/oxidase_C,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_DH_2_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADSB HGNC ENSG00000196177 tier1 - - 47 0 0.00 46 4 8.00 ACADVL 0 genome.wustl.edu 37 17 7127680 7127680 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 7127680 7127680 G A SNP ACADVL ENST00000356839 human ensembl 74_37 +1 known missense c.1573 p.V525I 0.760 NULL pfam_AcylCo_DH/oxidase_C,pfam_AcylCoA_DH/ox_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase_NM_dom,superfamily_AcylCo_DH/oxidase_C - no_errors ACADVL HGNC ENSG00000072778 tier1 - - 56 0 0.00 67 9 11.84 ADRA1A 0 genome.wustl.edu 37 8 26721737 26721737 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 8 26721737 26721737 G A SNP ADRA1A ENST00000380586 human ensembl 74_37 -1 known silent c.750 p.S250 0.386 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_ADRA1A_rcpt,prints_GPCR_Rhodpsn,prints_ADR_fam - no_errors ADRA1A HGNC ENSG00000120907 tier1 - - 60 0 0.00 70 9 11.39 AMOT 0 genome.wustl.edu 37 X 112058876 112058876 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 X 112058876 112058876 G A SNP AMOT ENST00000371959 human ensembl 74_37 -1 known missense c.1102 p.R368C 1.000 NULL pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin - no_errors AMOT HGNC ENSG00000126016 tier1 - - 44 0 0.00 40 19 32.20 ANKRD20A5P 0 genome.wustl.edu 37 18 14225685 14225685 + RNA SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 18 14225685 14225685 G T SNP ANKRD20A5P ENST00000577614 human ensembl 74_37 +1 known rna NULL NULL 0.252 - - - no_errors ANKRD20A5P HGNC ENSG00000186481 tier1 - - 153 0 0.00 179 20 10.05 ANO1 0 genome.wustl.edu 37 11 70009403 70009403 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 70009403 70009403 C T SNP ANO1 ENST00000355303 human ensembl 74_37 +1 known missense c.1907 p.P636L 1.000 pfam_Anoctamin pfam_Anoctamin - no_errors ANO1 HGNC ENSG00000131620 tier1 - - 44 0 0.00 83 15 15.31 AP1B1 0 genome.wustl.edu 37 22 29815242 29815242 + Missense_Mutation SNP G G C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 22 29815242 29815242 G C SNP AP1B1 ENST00000415447 human ensembl 74_37 -1 known missense c.45 p.I15M 1.000 superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4 pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4 - no_errors AP1B1 HGNC ENSG00000100280 tier1 - - 72 0 0.00 69 10 12.66 AVIL 0 genome.wustl.edu 37 12 58204170 58204170 + Silent SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 58204170 58204170 G T SNP AVIL ENST00000257861 human ensembl 74_37 -1 known silent c.723 p.I241 0.002 NULL pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Villin/Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Villin/Gelsolin - no_errors AVIL HGNC ENSG00000135407 tier1 - - 64 0 0.00 49 12 19.67 BAI2 0 genome.wustl.edu 37 1 32196688 32196688 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 32196688 32196688 C T SNP BAI2 ENST00000373658 human ensembl 74_37 -1 known missense c.4093 p.G1365S 0.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI2 HGNC ENSG00000121753 tier1 - - 39 0 0.00 45 20 30.77 BRWD3 0 genome.wustl.edu 37 X 79940990 79940990 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 X 79940990 79940990 C G SNP BRWD3 ENST00000373275 human ensembl 74_37 -1 known missense c.4051 p.E1351Q 0.688 superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain pfam_WD40_repeat,pfam_Bromodomain,superfamily_Quino_amine_DH_bsu,superfamily_Bromodomain,smart_WD40_repeat,smart_Bromodomain,pfscan_Bromodomain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Bromodomain - no_errors BRWD3 HGNC ENSG00000165288 tier1 - - 49 0 0.00 49 8 14.04 C10orf76 0 genome.wustl.edu 37 10 103771512 103771512 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 10 103771512 103771512 G T SNP C10orf76 ENST00000370033 human ensembl 74_37 -1 known missense c.799 p.Q267K 1.000 superfamily_ARM-type_fold pfam_DUF1741,superfamily_ARM-type_fold - no_errors C10orf76 HGNC ENSG00000120029 tier1 - - 28 0 0.00 37 8 17.78 CASP12 0 genome.wustl.edu 37 11 104762081 104762081 + Silent SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 104762081 104762081 G T SNP CASP12 ENST00000375726 human ensembl 74_37 -1 known silent c.483 p.S161 0.071 pfam_Pept_C14_caspase,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_Pept_C14_ICE_p20 pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_Pept_C14A_p45_core,pirsf_Caspase_IL-1_beta,pfscan_CARD,pfscan_Pept_C14_p10,pfscan_Pept_C14_ICE_p20,prints_Pept_C14A_p45_core - no_errors CASP12 HGNC ENSG00000204403 tier1 - - 66 0 0.00 74 13 14.94 CCDC57 0 genome.wustl.edu 37 17 80115510 80115510 + RNA SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 80115510 80115510 C T SNP CCDC57 ENST00000327026 human ensembl 74_37 -1 known rna NULL NULL 0.009 - - - no_errors CCDC57 HGNC ENSG00000176155 tier1 - - 91 0 0.00 87 11 11.22 CDK5R1 0 genome.wustl.edu 37 17 30815527 30815527 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 30815527 30815527 G T SNP CDK5R1 ENST00000313401 human ensembl 74_37 +1 known missense c.889 p.D297Y 1.000 pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC ENSG00000176749 tier1 - - 50 0 0.00 46 9 16.36 CDK5R1 0 genome.wustl.edu 37 17 30815538 30815538 + Silent SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 30815538 30815538 G T SNP CDK5R1 ENST00000313401 human ensembl 74_37 +1 known silent c.900 p.R300 1.000 pirsf_CDK5_activator pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator - no_errors CDK5R1 HGNC ENSG00000176749 55 0 0.00 51 3 5.56 CHD4 0 genome.wustl.edu 37 12 6707388 6707388 + Silent SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 6707388 6707388 C T SNP CHD4 ENST00000309577 human ensembl 74_37 -1 known silent c.1686 p.Q562 1.000 pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow pfam_CHD_C2,pfam_DUF1086,pfam_SNF2_N,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,superfamily_Homeodomain-like,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 CHD4 HGNC ENSG00000111642 tier1 - - 96 0 0.00 99 15 13.16 CNTNAP5 0 genome.wustl.edu 37 2 125232348 125232348 + Missense_Mutation SNP A A T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 125232348 125232348 A T SNP CNTNAP5 ENST00000431078 human ensembl 74_37 +1 known missense c.951 p.K317N 1.000 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C_dom,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G - no_errors CNTNAP5 HGNC ENSG00000155052 tier1 - - 47 0 0.00 45 6 11.76 COX16 0 genome.wustl.edu 37 14 70826373 70826373 + RNA SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 14 70826373 70826373 A G SNP COX16 ENST00000557612 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors COX16 HGNC ENSG00000133983 tier1 - - 16 0 0.00 24 6 20.00 CSTL1 0 genome.wustl.edu 37 20 23425499 23425499 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 20 23425499 23425499 G T SNP CSTL1 ENST00000246020 human ensembl 74_37 +1 known missense c.422 p.G141V 0.002 NULL pfam_Prot_inh_cystat,smart_Prot_inh_cystat - no_errors CSTL1 HGNC ENSG00000125823 tier1 - - 36 0 0.00 45 4 8.16 DENND4A 0 genome.wustl.edu 37 15 66031173 66031173 + Missense_Mutation SNP G G C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 15 66031173 66031173 G C SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.672 p.F224L 1.000 pfam_uDENN_dom,smart_uDENN_dom,pfscan_uDENN_dom pfam_DENN_dom,pfam_dDENN_dom,pfam_uDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,tigrfam_Pentatricopeptide_repeat - no_errors DENND4A HGNC ENSG00000174485 24 0 0.00 35 3 7.89 DIP2A 0 genome.wustl.edu 37 21 47957436 47957436 + Missense_Mutation SNP A A T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 21 47957436 47957436 A T SNP DIP2A ENST00000318711 human ensembl 74_37 +1 known missense c.1788 p.K596N 1.000 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd - no_errors DIP2A HGNC ENSG00000160305 tier1 - - 58 0 0.00 62 5 7.46 DMRTB1 0 genome.wustl.edu 37 1 53930386 53930386 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 53930386 53930386 C A SNP DMRTB1 ENST00000371445 human ensembl 74_37 +1 known missense c.827 p.P276Q 0.001 NULL pfam_DM_DNA-bd,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd - no_errors DMRTB1 HGNC ENSG00000143006 tier1 - - 123 0 0.00 152 13 7.88 DOK3 0 genome.wustl.edu 37 5 176930258 176930258 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 5 176930258 176930258 G T SNP DOK3 ENST00000312943 human ensembl 74_37 -1 known missense c.781 p.Q261K 0.001 pfscan_Insln_rcpt_S1 pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,pfscan_Insln_rcpt_S1 - no_errors DOK3 HGNC ENSG00000146094 tier1 - - 35 0 0.00 49 4 7.55 EGFL6 0 genome.wustl.edu 37 X 13621508 13621508 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 X 13621508 13621508 G T SNP EGFL6 ENST00000380602 human ensembl 74_37 +1 known missense c.473 p.C158F 1.000 smart_EG-like_dom pfam_MAM_dom,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_MAM_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors EGFL6 HGNC ENSG00000198759 tier1 - - 42 0 0.00 36 5 12.20 ENSG00000215941 0 genome.wustl.edu 37 3 38948856 38948856 + RNA SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 3 38948856 38948856 C T SNP ENSG00000215941 ENST00000401122 human ensembl 74_37 +1 novel rna NULL NULL 0.000 - - - no_errors AC116038.1 Clone_based_ensembl_gene ENSG00000215941 tier1 rs76050581 - 14 0 0.00 13 4 23.53 ENSG00000221307 0 genome.wustl.edu 37 12 8476956 8476956 + RNA SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 8476956 8476956 G A SNP ENSG00000221307 ENST00000408380 human ensembl 74_37 +1 novel rna NULL NULL 0.279 - - - no_errors AC092745.1 Clone_based_ensembl_gene ENSG00000221307 tier1 - - 85 0 0.00 91 12 11.65 FAHD2CP 0 genome.wustl.edu 37 2 96676301 96676301 + RNA SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 96676301 96676301 C A SNP FAHD2CP ENST00000467292 human ensembl 74_37 +1 known rna NULL NULL 0.018 - - - no_errors FAHD2CP HGNC ENSG00000231584 tier1 - - 12 0 0.00 9 7 43.75 FAM149A 0 genome.wustl.edu 37 4 187079298 187079298 + RNA SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 4 187079298 187079298 C T SNP FAM149A ENST00000513030 human ensembl 74_37 +1 known rna NULL NULL 0.983 - - - no_errors FAM149A HGNC ENSG00000109794 tier1 - - 24 0 0.00 21 13 38.24 FAM45A 0 genome.wustl.edu 37 10 120882997 120882997 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 10 120882997 120882997 G T SNP FAM45A ENST00000361432 human ensembl 74_37 +1 known missense c.610 p.V204L 1.000 NULL pfam_ABL9/DENND6_dom - no_errors FAM45A HGNC ENSG00000119979 85 0 0.00 69 5 6.76 FAM47C 0 genome.wustl.edu 37 X 37027957 37027957 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 X 37027957 37027957 G A SNP FAM47C ENST00000358047 human ensembl 74_37 +1 known missense c.1474 p.D492N 0.001 NULL NULL - no_errors FAM47C HGNC ENSG00000198173 tier1 - - 82 0 0.00 57 18 24.00 FAT4 0 genome.wustl.edu 37 4 126371928 126371928 + Nonsense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 4 126371928 126371928 C T SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known nonsense c.9757 p.Q3253* 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT4 HGNC ENSG00000196159 tier1 - - 40 0 0.00 40 6 13.04 FBN1 0 genome.wustl.edu 37 15 48808454 48808454 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 15 48808454 48808454 C A SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.1253 p.G418V 1.000 pirsf_FBN pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pirsf_FBN,pfscan_EG-like_dom - no_errors FBN1 HGNC ENSG00000166147 tier1 - - 37 0 0.00 28 4 12.50 FBXO9 0 genome.wustl.edu 37 6 52957602 52957602 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 6 52957602 52957602 G T SNP FBXO9 ENST00000244426 human ensembl 74_37 +1 known missense c.873 p.W291C 1.000 superfamily_F-box_dom pfam_F-box_dom,superfamily_F-box_dom,pfscan_F-box_dom - no_errors FBXO9 HGNC ENSG00000112146 tier1 - - 58 0 0.00 68 4 5.56 FLG 0 genome.wustl.edu 37 1 152282420 152282420 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 152282420 152282420 C G SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.4942 p.E1648Q 0.000 NULL pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 - - 202 0 0.00 171 23 11.79 FLOT2 0 genome.wustl.edu 37 17 27209414 27209414 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 27209414 27209414 C T SNP FLOT2 ENST00000394908 human ensembl 74_37 -1 known missense c.520 p.V174M 0.894 pfam_Band_7,smart_Band_7 pfam_Band_7,smart_Band_7 - no_errors FLOT2 HGNC ENSG00000132589 tier1 - - 92 0 0.00 72 8 10.00 FRMPD2 0 genome.wustl.edu 37 10 49440312 49440312 + Nonsense_Mutation SNP A A C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 10 49440312 49440312 A C SNP FRMPD2 ENST00000374201 human ensembl 74_37 -1 known nonsense c.1014 p.Y338* 0.000 NULL pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 tier1 - - 27 0 0.00 30 8 21.05 GALR2 0 genome.wustl.edu 37 17 74071023 74071023 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 74071023 74071023 G A SNP GALR2 ENST00000329003 human ensembl 74_37 +1 known missense c.59 p.G20D 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srw,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Galanin_rcpt,prints_GAL2_rcpt - no_errors GALR2 HGNC ENSG00000182687 tier1 - - 39 0 0.00 31 7 18.42 GCN1L1 0 genome.wustl.edu 37 12 120580662 120580662 + Missense_Mutation SNP T T A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 120580662 120580662 T A SNP GCN1L1 ENST00000300648 human ensembl 74_37 -1 known missense c.5579 p.E1860V 1.000 superfamily_ARM-type_fold pfam_DUF3554,pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2 - no_errors GCN1L1 HGNC ENSG00000089154 47 0 0.00 41 3 6.82 GLA 0 genome.wustl.edu 37 X 100656624 100656624 + Silent SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 X 100656624 100656624 T C SNP GLA ENST00000218516 human ensembl 74_37 -1 known silent c.543 p.A181 0.290 superfamily_Glycoside_hydrolase_SF pfam_Glyco_hydro_GHD,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_27 - no_errors GLA HGNC ENSG00000102393 tier1 - - 55 0 0.00 63 5 7.35 GRM8 0 genome.wustl.edu 37 7 126173452 126173452 + Missense_Mutation SNP T T G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 126173452 126173452 T G SNP GRM8 ENST00000339582 human ensembl 74_37 -1 known missense c.1984 p.S662R 1.000 pfam_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt,pfscan_GPCR_3_C pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_8,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C - no_errors GRM8 HGNC ENSG00000179603 tier1 - - 64 0 0.00 50 6 10.71 GUSBP6 0 genome.wustl.edu 37 7 63580894 63580894 + RNA SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 63580894 63580894 G A SNP GUSBP6 ENST00000434932 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GUSBP6 HGNC ENSG00000224458 tier1 - - 119 0 0.00 82 49 37.40 HDAC4 0 genome.wustl.edu 37 2 240016733 240016733 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 240016733 240016733 G T SNP HDAC4 ENST00000345617 human ensembl 74_37 -1 known missense c.2238 p.F746L 0.191 pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse - no_errors HDAC4 HGNC ENSG00000068024 tier1 - - 78 0 0.00 60 6 9.09 HEATR1 0 genome.wustl.edu 37 1 236760260 236760260 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 236760260 236760260 G T SNP HEATR1 ENST00000366582 human ensembl 74_37 -1 known missense c.620 p.P207Q 0.214 NULL pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold - no_errors HEATR1 HGNC ENSG00000119285 41 0 0.00 56 3 5.08 HMGN5 0 genome.wustl.edu 37 X 80371790 80371790 + Silent SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 X 80371790 80371790 G T SNP HMGN5 ENST00000358130 human ensembl 74_37 -1 known silent c.180 p.A60 0.020 pfam_HMGN_fam,smart_HMGN_fam pfam_HMGN_fam,smart_HMGN_fam,prints_HMGN_fam - no_errors HMGN5 HGNC ENSG00000198157 43 0 0.00 29 3 9.38 HOXA9 0 genome.wustl.edu 37 7 27202906 27202906 + RNA SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 27202906 27202906 A G SNP HOXA9 ENST00000497089 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors HOXA9 HGNC ENSG00000078399 22 0 0.00 31 4 11.43 HRNR 0 genome.wustl.edu 37 1 152195673 152195673 + Silent SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 152195673 152195673 G T SNP HRNR ENST00000368801 human ensembl 74_37 -1 known silent c.57 p.A19 0.327 pfam_S100_Ca-bd_sub pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom - no_errors HRNR HGNC ENSG00000197915 tier1 - - 85 0 0.00 65 7 9.59 IGSF3 0 genome.wustl.edu 37 1 117142808 117142808 + Nonsense_Mutation SNP A A T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 117142808 117142808 A T SNP IGSF3 ENST00000318837 human ensembl 74_37 -1 known nonsense c.1844 p.L615* 1.000 smart_Ig_sub pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF3 HGNC ENSG00000143061 tier1 - - 67 0 0.00 71 13 15.48 IL7R 0 genome.wustl.edu 37 5 35873661 35873661 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 5 35873661 35873661 G T SNP IL7R ENST00000303115 human ensembl 74_37 +1 known missense c.617 p.R206L 0.998 pfam_Fibronectin_type3,superfamily_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3 - no_errors IL7R HGNC ENSG00000168685 21 0 0.00 34 2 5.56 INTS2 0 genome.wustl.edu 37 17 59958373 59958373 + Missense_Mutation SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 59958373 59958373 T C SNP INTS2 ENST00000444766 human ensembl 74_37 -1 known missense c.2273 p.Q758R 1.000 NULL NULL - no_errors INTS2 HGNC ENSG00000108506 39 0 0.00 46 4 8.00 KCND2 0 genome.wustl.edu 37 7 119914701 119914701 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 119914701 119914701 G A SNP KCND2 ENST00000331113 human ensembl 74_37 +1 known silent c.15 p.V5 0.012 pfam_Shal-type pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCND2 HGNC ENSG00000184408 tier1 - - 91 0 0.00 92 12 11.54 KIAA0430 0 genome.wustl.edu 37 16 15733071 15733071 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 16 15733071 15733071 G T SNP KIAA0430 ENST00000396368 human ensembl 74_37 -1 known missense c.20 p.T7N 1.000 NULL pfam_Limkain_b1_cons_dom,pfam_NYN_limkain-b1,smart_RRM_dom,pfscan_RRM_dom - no_errors KIAA0430 HGNC ENSG00000166783 tier1 - - 83 0 0.00 54 10 15.62 KIAA1324L 0 genome.wustl.edu 37 7 86567530 86567530 + Missense_Mutation SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 86567530 86567530 T C SNP KIAA1324L ENST00000450689 human ensembl 74_37 -1 known missense c.1001 p.E334G 0.933 superfamily_Growth_fac_rcpt_N_dom superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Growth_fac_rcpt_N_dom - no_errors KIAA1324L HGNC ENSG00000164659 tier1 - - 97 0 0.00 52 21 28.77 KIAA1671 0 genome.wustl.edu 37 22 25577733 25577733 + Silent SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 22 25577733 25577733 T C SNP KIAA1671 ENST00000358431 human ensembl 74_37 +1 known silent c.5142 p.P1714 0.000 NULL NULL - no_errors KIAA1671 HGNC ENSG00000197077 26 0 0.00 30 3 9.09 KIF17 0 genome.wustl.edu 37 1 20998480 20998480 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 20998480 20998480 G A SNP KIF17 ENST00000247986 human ensembl 74_37 -1 known silent c.2673 p.G891 1.000 NULL pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF17 HGNC ENSG00000117245 tier1 - - 91 0 0.00 130 19 12.75 KIFC1 0 genome.wustl.edu 37 6 33374195 33374195 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 6 33374195 33374195 C T SNP KIFC1 ENST00000428849 human ensembl 74_37 +1 known missense c.1759 p.R587W 0.999 pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom pfam_Kinesin_motor_dom,superfamily_P-loop_NTPase,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIFC1 HGNC ENSG00000237649 tier1 rs112635529 - 54 0 0.00 58 14 19.18 KLKP1 0 genome.wustl.edu 37 19 51391278 51391278 + RNA SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 51391278 51391278 C A SNP KLKP1 ENST00000600104 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors KLKP1 HGNC ENSG00000197588 tier1 - - 223 0 0.00 207 41 16.53 KRT121P 0 genome.wustl.edu 37 12 52649170 52649170 + RNA SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 52649170 52649170 C T SNP KRT121P ENST00000529785 human ensembl 74_37 -1 known rna NULL NULL 0.544 - - - no_errors KRT121P HGNC ENSG00000135477 tier1 - - 46 0 0.00 43 5 10.42 KRT25 0 genome.wustl.edu 37 17 38910113 38910113 + Missense_Mutation SNP T T A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 38910113 38910113 T A SNP KRT25 ENST00000312150 human ensembl 74_37 -1 known missense c.668 p.E223V 1.000 pfam_IF pfam_IF,prints_Keratin_I - no_errors KRT25 HGNC ENSG00000204897 tier1 - - 74 0 0.00 80 13 13.98 KRT34 0 genome.wustl.edu 37 17 39538436 39538436 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 39538436 39538436 G A SNP KRT34 ENST00000394001 human ensembl 74_37 -1 known silent c.189 p.C63 0.241 NULL pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT34 HGNC ENSG00000131737 tier1 - - 121 0 0.00 134 16 10.60 LAMA4 0 genome.wustl.edu 37 6 112508790 112508790 + Nonsense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 6 112508790 112508790 G T SNP LAMA4 ENST00000230538 human ensembl 74_37 -1 known nonsense c.828 p.C276* 0.999 NULL pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G - no_errors LAMA4 HGNC ENSG00000112769 tier1 - - 53 0 0.00 60 4 6.25 LOC100505502 0 genome.wustl.edu 37 10 31652896 31652896 + RNA SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 10 31652896 31652896 C T SNP LOC100505502 ENST00000359888 human ensembl 74_37 -1 known rna NULL NULL 0.247 - - - no_errors RP11-192P3.5 Clone_based_vega_gene ENSG00000196960 tier1 - - 50 0 0.00 45 4 8.16 LRIT3 0 genome.wustl.edu 37 4 110789009 110789009 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 4 110789009 110789009 G T SNP LRIT3 ENST00000594814 human ensembl 74_37 +1 known missense c.802 p.G268C 1.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LRIT3 HGNC ENSG00000183423 56 0 0.00 33 3 8.33 LSM7 0 genome.wustl.edu 37 19 2328428 2328428 + Missense_Mutation SNP T T A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 2328428 2328428 T A SNP LSM7 ENST00000252622 human ensembl 74_37 -1 known missense c.55 p.I19F 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_U6_snRNA_Lsm7 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_U6_snRNA_Lsm7 - no_errors LSM7 HGNC ENSG00000130332 tier1 - - 61 0 0.00 42 8 16.00 LSM7 0 genome.wustl.edu 37 19 2328429 2328429 + Nonsense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 2328429 2328429 G T SNP LSM7 ENST00000252622 human ensembl 74_37 -1 known nonsense c.54 p.Y18* 1.000 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_U6_snRNA_Lsm7 pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc,pirsf_U6_snRNA_Lsm7 - no_errors LSM7 HGNC ENSG00000130332 tier1 - - 62 0 0.00 42 8 16.00 LYG2 0 genome.wustl.edu 37 2 99858901 99858901 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 99858901 99858901 G T SNP LYG2 ENST00000333017 human ensembl 74_37 -1 known missense c.565 p.P189T 0.017 superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 pfam_TGlycosylase-like_SLT,superfamily_Lysozyme-like_dom,pirsf_Glyco_hydro_23,prints_Glyco_hydro_23 - no_errors LYG2 HGNC ENSG00000185674 51 0 0.00 36 2 5.26 LZTS3 0 genome.wustl.edu 37 20 3146868 3146868 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 20 3146868 3146868 G T SNP LZTS3 ENST00000329152 human ensembl 74_37 -1 known missense c.598 p.L200M 1.000 NULL NULL - no_errors LZTS3 Uniprot_gn ENSG00000088899 tier1 - - 91 0 0.00 78 21 21.21 MASTL 0 genome.wustl.edu 37 10 27459382 27459382 + Silent SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 10 27459382 27459382 T C SNP MASTL ENST00000375940 human ensembl 74_37 +1 known silent c.1494 p.S498 0.002 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Prot_kinase_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_dom - no_errors MASTL HGNC ENSG00000120539 tier1 - - 48 0 0.00 29 4 12.12 MBD5 0 genome.wustl.edu 37 2 149243434 149243434 + Missense_Mutation SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 149243434 149243434 A G SNP MBD5 ENST00000407073 human ensembl 74_37 +1 known missense c.2969 p.Q990R 1.000 NULL superfamily_DNA-bd_dom,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd,pfscan_PWWP_dom - no_errors MBD5 HGNC ENSG00000204406 tier1 - - 52 0 0.00 69 11 13.75 MCTP2 0 genome.wustl.edu 37 15 94942290 94942290 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 15 94942290 94942290 C T SNP MCTP2 ENST00000357742 human ensembl 74_37 +1 known missense c.1889 p.P630L 1.000 superfamily_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors MCTP2 HGNC ENSG00000140563 tier1 - - 29 0 0.00 45 4 8.16 MGAT4C 0 genome.wustl.edu 37 12 86373140 86373140 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 86373140 86373140 C A SNP MGAT4C ENST00000393205 human ensembl 74_37 -1 known missense c.1451 p.C484F 1.000 NULL pfam_Glyco_transf_54,superfamily_LSM_dom - no_errors MGAT4C HGNC ENSG00000182050 tier1 - - 64 0 0.00 81 12 12.90 MIR1197 0 genome.wustl.edu 37 14 101491915 101491915 + RNA SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 14 101491915 101491915 G A SNP MIR1197 ENST00000408818 human ensembl 74_37 +1 known rna NULL NULL 0.984 - - - no_errors MIR1197 HGNC ENSG00000221745 tier1 - - 162 0 0.00 181 16 8.12 MIR518D 0 genome.wustl.edu 37 19 54238132 54238132 + RNA SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 54238132 54238132 C A SNP MIR518D ENST00000385014 human ensembl 74_37 +1 known rna NULL NULL 0.005 - - - no_errors MIR518D HGNC ENSG00000207747 tier1 - - 80 0 0.00 81 9 10.00 MIR624 0 genome.wustl.edu 37 14 31483858 31483858 + RNA SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 14 31483858 31483858 G T SNP MIR624 ENST00000385217 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors MIR624 HGNC ENSG00000207952 tier1 - - 76 0 0.00 87 10 10.31 MLLT3 0 genome.wustl.edu 37 9 20363485 20363485 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 9 20363485 20363485 G T SNP MLLT3 ENST00000380338 human ensembl 74_37 -1 known missense c.1320 p.S440R 1.000 NULL pfam_YEATS,pfscan_YEATS - no_errors MLLT3 HGNC ENSG00000171843 53 0 0.00 62 4 6.06 MMP14 0 genome.wustl.edu 37 14 23310779 23310779 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 14 23310779 23310779 C T SNP MMP14 ENST00000311852 human ensembl 74_37 +1 known missense c.188 p.A63V 1.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,pfam_Hemopexin-like_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP14 HGNC ENSG00000157227 tier1 - - 75 0 0.00 74 16 17.78 MRGPRG-AS1 0 genome.wustl.edu 37 11 3243194 3243194 + RNA SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 3243194 3243194 T C SNP MRGPRG-AS1 ENST00000420873 human ensembl 74_37 +1 known rna NULL NULL 0.030 - - - no_errors MRGPRG-AS1 HGNC ENSG00000236301 34 0 0.00 40 3 6.98 MS4A7 0 genome.wustl.edu 37 11 60160258 60160258 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 60160258 60160258 G T SNP MS4A7 ENST00000300184 human ensembl 74_37 +1 known missense c.647 p.G216V 0.882 NULL pfam_CD20-like - no_errors MS4A7 HGNC ENSG00000166927 tier1 - - 66 0 0.00 60 4 6.25 MT-CO2 0 genome.wustl.edu 37 MT 7642 7642 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 MT 7642 7642 G A SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known silent c.57 p.E19 NULL pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,tigrfam_Cyt_c_oxidase_su2 pfam_Cyt_c_oxidase_su2_C,pfam_Cyt_c_oxidase_su2_TM_dom,superfamily_Cupredoxin,superfamily_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_TM_dom,pfscan_Cyt_c_oxidase_su2_C,tigrfam_Cyt_c_oxidase_su2 - no_errors MT-CO2 HGNC ENSG00000198712 tier1 - - 573 0 0.00 580 646 52.61 MT1DP 0 genome.wustl.edu 37 16 56678679 56678679 + RNA SNP A A T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 16 56678679 56678679 A T SNP MT1DP ENST00000463480 human ensembl 74_37 +1 known rna NULL NULL 0.991 - - - no_errors MT1DP HGNC ENSG00000205361 tier1 - - 95 0 0.00 88 16 15.38 MYH13 0 genome.wustl.edu 37 17 10206736 10206736 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 10206736 10206736 C T SNP MYH13 ENST00000252172 human ensembl 74_37 -1 known missense c.5546 p.R1849H 0.999 pfam_Myosin_tail pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH13 HGNC ENSG00000006788 tier1 - - 81 0 0.00 96 12 11.11 MYH7 0 genome.wustl.edu 37 14 23886458 23886458 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 14 23886458 23886458 G A SNP MYH7 ENST00000355349 human ensembl 74_37 -1 known missense c.4423 p.R1475C 0.967 pfam_Myosin_tail,superfamily_Prefoldin pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH7 HGNC ENSG00000092054 tier1 rs139646545 - 39 0 0.00 53 16 23.19 NEUROD6 0 genome.wustl.edu 37 7 31378309 31378309 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 31378309 31378309 G T SNP NEUROD6 ENST00000297142 human ensembl 74_37 -1 known missense c.574 p.Q192K 1.000 pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD pfam_Neurogenic_DUF,pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_bHLH_dom - no_errors NEUROD6 HGNC ENSG00000164600 tier1 - - 28 0 0.00 57 5 8.06 NKTR 0 genome.wustl.edu 37 3 42679486 42679486 + Frame_Shift_Del DEL A A - TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 3 42679486 42679486 A - DEL NKTR ENST00000232978 human ensembl 74_37 +1 known frame_shift_del c.2290 p.N766fs 0.001 NULL pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom - no_errors NKTR HGNC ENSG00000114857 tier1 32 0 0.00 18 4 18.18 NOS1 0 genome.wustl.edu 37 12 117703277 117703277 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 117703277 117703277 G A SNP NOS1 ENST00000317775 human ensembl 74_37 -1 known silent c.1980 p.T660 0.750 pfam_NO_synthase_oxygenase_dom,superfamily_NO_synthase_oxygenase_dom,pirsf_NOS_euk pfam_NO_synthase_oxygenase_dom,pfam_FAD-binding_1,pfam_Flavodoxin/NO_synth,pfam_OxRdtase_FAD/NAD-bd,pfam_PDZ,superfamily_NO_synthase_oxygenase_dom,superfamily_Riboflavin_synthase-like_b-brl,superfamily_PDZ,smart_PDZ,pirsf_NOS_euk,pfscan_PDZ,pfscan_Flavodoxin/NO_synth,prints_Flavoprot_Pyr_Nucl_cyt_Rdtase,prints_Flavdoxin - no_errors NOS1 HGNC ENSG00000089250 tier1 - - 98 0 0.00 112 9 7.44 NPSR1-AS1 0 genome.wustl.edu 37 7 34768375 34768375 + RNA SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 34768375 34768375 G T SNP NPSR1-AS1 ENST00000358772 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors NPSR1-AS1 HGNC ENSG00000197085 tier1 - - 76 0 0.00 65 30 31.58 NRXN3 0 genome.wustl.edu 37 14 80327777 80327777 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 14 80327777 80327777 G A SNP NRXN3 ENST00000557594 human ensembl 74_37 +1 novel missense c.1384 p.E462K 1.000 NULL pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Neurexin-like,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 83 0 0.00 68 25 26.88 NT5C1B 0 genome.wustl.edu 37 2 18765855 18765855 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 18765855 18765855 G A SNP NT5C1B ENST00000406971 human ensembl 74_37 -1 known missense c.581 p.T194M 0.000 NULL NULL - no_errors NT5C1B HGNC ENSG00000185013 53 0 0.00 59 4 6.35 OLFM3 0 genome.wustl.edu 37 1 102270448 102270448 + Silent SNP A A T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 102270448 102270448 A T SNP OLFM3 ENST00000338858 human ensembl 74_37 -1 known silent c.783 p.T261 0.994 pfam_Olfac-like,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,pfam_Noelin-1,superfamily_Quino_amine_DH_bsu,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM3 HGNC ENSG00000118733 tier1 - - 43 0 0.00 39 10 20.41 OR10Q1 0 genome.wustl.edu 37 11 57995724 57995724 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 57995724 57995724 G A SNP OR10Q1 ENST00000316770 human ensembl 74_37 -1 known silent c.624 p.S208 0.304 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10Q1 HGNC ENSG00000180475 tier1 - - 45 0 0.00 72 7 8.86 OR2T2 0 genome.wustl.edu 37 1 248616580 248616580 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 248616580 248616580 C T SNP OR2T2 ENST00000342927 human ensembl 74_37 +1 known missense c.482 p.T161I 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T2 HGNC ENSG00000196240 tier1 - - 57 0 0.00 55 15 21.43 OR5H15 0 genome.wustl.edu 37 3 97888227 97888227 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 3 97888227 97888227 G T SNP OR5H15 ENST00000356526 human ensembl 74_37 +1 known missense c.684 p.K228N 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5H15 HGNC ENSG00000233412 tier1 - - 88 0 0.00 109 6 5.22 OTUD7B 0 genome.wustl.edu 37 1 149916658 149916658 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 149916658 149916658 C T SNP OTUD7B ENST00000369135 human ensembl 74_37 -1 known missense c.1630 p.G544S 1.000 NULL pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20 - no_errors OTUD7B HGNC ENSG00000163113 tier1 - - 44 0 0.00 37 7 15.91 PADI1 0 genome.wustl.edu 37 1 17555281 17555281 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 17555281 17555281 G T SNP PADI1 ENST00000375471 human ensembl 74_37 +1 known missense c.814 p.V272L 0.999 pfam_Prot_Arg_deaminase_cen_dom,superfamily_Prot_Arg_deaminase_cen_dom,pirsf_Protein-arginine_deiminase_sub pfam_PAD_C,pfam_Prot_Arg_deaminase_cen_dom,pfam_PAD_N,superfamily_Prot_Arg_deaminase_cen_dom,superfamily_Cupredoxin,pirsf_Protein-arginine_deiminase_sub - no_errors PADI1 HGNC ENSG00000142623 tier1 - - 55 0 0.00 58 4 6.45 PCSK5 0 genome.wustl.edu 37 9 78923612 78923612 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 9 78923612 78923612 G T SNP PCSK5 ENST00000545128 human ensembl 74_37 +1 known missense c.3575 p.G1192V 0.988 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_EG-like_dom pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt_N_dom,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK5 HGNC ENSG00000099139 49 0 0.00 30 3 9.09 PDLIM2 0 genome.wustl.edu 37 8 22442854 22442854 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 8 22442854 22442854 C A SNP PDLIM2 ENST00000308354 human ensembl 74_37 +1 known missense c.1232 p.S411Y 0.000 NULL pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ - no_errors PDLIM2 HGNC ENSG00000120913 83 0 0.00 95 6 5.94 PIAS1 0 genome.wustl.edu 37 15 68438931 68438931 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 15 68438931 68438931 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.721 p.V241L 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 tier1 - - 52 0 0.00 43 4 8.51 PIAS1 0 genome.wustl.edu 37 15 68438944 68438944 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 15 68438944 68438944 G T SNP PIAS1 ENST00000249636 human ensembl 74_37 +1 known missense c.734 p.R245L 1.000 NULL pfam_Znf_MIZ,smart_SAP_dom,pfscan_Znf_MIZ,pfscan_SAP_dom - no_errors PIAS1 HGNC ENSG00000033800 55 0 0.00 42 3 6.67 PIK3CA 0 genome.wustl.edu 37 3 178936091 178936091 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 3 178936091 178936091 G A SNP PIK3CA ENST00000263967 human ensembl 74_37 +1 known missense c.1633 p.E545K 1.000 pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_dom,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 tier1 rs104886003 - 64 0 0.00 56 33 37.08 PLK5 0 genome.wustl.edu 37 19 1533972 1533972 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 1533972 1533972 C G SNP PLK5 ENST00000334770 human ensembl 74_37 +1 known missense c.757 p.L253V 0.983 NULL superfamily_Kinase-like_dom,pfscan_Prot_kinase_dom - no_errors PLK5 HGNC ENSG00000185988 64 0 0.00 54 3 5.26 POTEH-AS1 0 genome.wustl.edu 37 22 16277955 16277955 + RNA SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 22 16277955 16277955 A G SNP POTEH-AS1 ENST00000422014 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors POTEH-AS1 HGNC ENSG00000236666 tier1 - - 28 0 0.00 32 5 13.51 PRAM1 0 genome.wustl.edu 37 19 8563824 8563824 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 8563824 8563824 G T SNP PRAM1 ENST00000423345 human ensembl 74_37 -1 known missense c.868 p.L290I 0.000 NULL superfamily_SH3_domain - no_errors PRAM1 HGNC ENSG00000133246 tier1 - - 39 0 0.00 45 4 8.16 PRSS12 0 genome.wustl.edu 37 4 119252994 119252994 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 4 119252994 119252994 G T SNP PRSS12 ENST00000296498 human ensembl 74_37 -1 known missense c.848 p.A283D 0.000 superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_SRCR pfam_SRCR,pfam_Peptidase_S1,pfam_Kringle,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,superfamily_Kringle-like,smart_Kringle,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Kringle,pfscan_SRCR,pfscan_Peptidase_S1,prints_SRCR,prints_Peptidase_S1A - no_errors PRSS12 HGNC ENSG00000164099 tier1 - - 32 0 0.00 41 4 8.89 PRSS22 0 genome.wustl.edu 37 16 2905760 2905760 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 16 2905760 2905760 C G SNP PRSS22 ENST00000161006 human ensembl 74_37 -1 known missense c.374 p.W125S 0.996 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors PRSS22 HGNC ENSG00000005001 tier1 - - 22 0 0.00 28 5 15.15 PTPRK 0 genome.wustl.edu 37 6 128294905 128294905 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 6 128294905 128294905 G T SNP PTPRK ENST00000368227 human ensembl 74_37 -1 known missense c.4088 p.P1363H 1.000 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Ig_sub,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRK HGNC ENSG00000152894 43 0 0.00 54 3 5.08 RASGRP2 0 genome.wustl.edu 37 11 64497626 64497626 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 64497626 64497626 G T SNP RASGRP2 ENST00000377494 human ensembl 74_37 -1 known missense c.1453 p.L485M 1.000 smart_EF_hand_dom pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RASGRP2 HGNC ENSG00000068831 34 0 0.00 55 4 6.67 RBBP8 0 genome.wustl.edu 37 18 20596862 20596862 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 18 20596862 20596862 G T SNP RBBP8 ENST00000327155 human ensembl 74_37 +1 known missense c.2429 p.G810V 1.000 pfam_DNA-repair_Sae2/CtIP pfam_CtIP_N,pfam_DNA-repair_Sae2/CtIP - no_errors RBBP8 HGNC ENSG00000101773 tier1 - - 40 0 0.00 26 5 16.13 ROCK2 0 genome.wustl.edu 37 2 11351835 11351835 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 11351835 11351835 G A SNP ROCK2 ENST00000315872 human ensembl 74_37 -1 known silent c.2175 p.I725 0.995 pirsf_Rho-assoc_coiled-coil_kin pfam_Prot_kinase_dom,pfam_Rho-bd_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_tRNA-bd_arm,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Rho-assoc_coiled-coil_kin,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors ROCK2 HGNC ENSG00000134318 tier1 - - 89 0 0.00 81 14 14.58 RPF2 0 genome.wustl.edu 37 6 111336995 111336995 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 6 111336995 111336995 G T SNP RPF2 ENST00000441448 human ensembl 74_37 +1 known missense c.532 p.A178S 1.000 pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix pfam_Brix,superfamily_Anticodon-bd,smart_Brix,pfscan_Brix - no_errors RPF2 HGNC ENSG00000197498 39 0 0.00 59 4 6.35 SATL1 0 genome.wustl.edu 37 X 84362459 84362459 + Missense_Mutation SNP G G C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 X 84362459 84362459 G C SNP SATL1 ENST00000509231 human ensembl 74_37 -1 known missense c.1516 p.L506V 0.000 NULL superfamily_Acyl_CoA_acyltransferase - no_errors SATL1 HGNC ENSG00000184788 tier1 - - 81 0 0.00 66 33 33.33 SERPINB11 0 genome.wustl.edu 37 18 61377507 61377507 + Missense_Mutation SNP A A C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 18 61377507 61377507 A C SNP SERPINB11 ENST00000538847 human ensembl 74_37 +1 known missense c.80 p.N27T 0.975 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB11 HGNC ENSG00000206072 51 0 0.00 53 3 5.36 SLTM 0 genome.wustl.edu 37 15 59189346 59189346 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 15 59189346 59189346 C G SNP SLTM ENST00000380516 human ensembl 74_37 -1 known missense c.1195 p.D399H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,pfam_SAP_dom,smart_SAP_dom,smart_RRM_dom,pfscan_SAP_dom,pfscan_RRM_dom - no_errors SLTM HGNC ENSG00000137776 tier1 - - 47 0 0.00 64 7 9.86 SMARCA2 0 genome.wustl.edu 37 9 2039777 2039779 + In_Frame_Del DEL CAG CAG - TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 9 2039777 2039779 CAG - DEL SMARCA2 ENST00000349721 human ensembl 74_37 +1 known in_frame_del c.667_669 p.Q226in_frame_del 0.310:0.494:0.625 NULL pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_Helicase/SANT-assoc_DNA-bd,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_P-loop_NTPase,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain - no_errors SMARCA2 HGNC ENSG00000080503 tier1 54 0 0.00 61 8 11.59 SNRNP40 0 genome.wustl.edu 37 1 31732603 31732603 + RNA DEL A A - TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 31732603 31732603 A - DEL SNRNP40 ENST00000486941 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors SNRNP40 HGNC ENSG00000060688 tier1 19 0 0.00 15 5 25.00 SOWAHA 0 genome.wustl.edu 37 5 132149509 132149509 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 5 132149509 132149509 G A SNP SOWAHA ENST00000378693 human ensembl 74_37 +1 known missense c.196 p.A66T 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors SOWAHA HGNC ENSG00000198944 tier1 - - 8 0 0.00 6 5 45.45 SUPT6H 0 genome.wustl.edu 37 17 27002030 27002030 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 27002030 27002030 G T SNP SUPT6H ENST00000314616 human ensembl 74_37 +1 known missense c.388 p.D130Y 1.000 pirsf_TF_Spt6 pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold,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 tier1 - - 37 0 0.00 55 10 15.38 TAF5L 0 genome.wustl.edu 37 1 229730759 229730759 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 229730759 229730759 G A SNP TAF5L ENST00000258281 human ensembl 74_37 -1 known missense c.1055 p.A352V 0.924 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_TFIID-su_WD40-assoc_reg,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors TAF5L HGNC ENSG00000135801 tier1 - - 45 0 0.00 48 8 14.29 TAS2R31 0 genome.wustl.edu 37 12 11183296 11183296 + Silent SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 12 11183296 11183296 A G SNP TAS2R31 ENST00000390675 human ensembl 74_37 -1 known silent c.639 p.G213 0.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R31 HGNC ENSG00000256436 71 0 0.00 91 5 5.21 TBC1D4 0 genome.wustl.edu 37 13 75869023 75869023 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 13 75869023 75869023 G T SNP TBC1D4 ENST00000377636 human ensembl 74_37 -1 known missense c.3283 p.Q1095K 1.000 pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom pfam_Rab-GTPase-TBC_dom,pfam_DUF3350,pfam_PTB/PI_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTB/PI_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTB/PI_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D4 HGNC ENSG00000136111 36 0 0.00 29 2 6.45 TEX101 0 genome.wustl.edu 37 19 43920355 43920355 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 43920355 43920355 G T SNP TEX101 ENST00000253435 human ensembl 74_37 +1 known missense c.223 p.G75W 0.001 NULL pfam_LY6_UPAR - no_errors TEX101 HGNC ENSG00000131126 tier1 - - 50 0 0.00 59 5 7.81 TNPO3 0 genome.wustl.edu 37 7 128641132 128641132 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 128641132 128641132 C T SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known missense c.853 p.A285T 1.000 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 39 0 0.00 51 7 12.07 TNXB 0 genome.wustl.edu 37 6 32017091 32017091 + Missense_Mutation SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 6 32017091 32017091 T C SNP TNXB ENST00000375247 human ensembl 74_37 -1 known missense c.9707 p.H3236R 0.002 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3 - no_errors TNXB HGNC ENSG00000168477 tier1 - - 60 0 0.00 79 13 14.13 TOMM34 0 genome.wustl.edu 37 20 43571821 43571821 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 20 43571821 43571821 G A SNP TOMM34 ENST00000372813 human ensembl 74_37 -1 known missense c.859 p.L287F 1.000 smart_TPR_repeat,pfscan_TPR-contain_dom pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TOMM34 HGNC ENSG00000025772 tier1 - - 59 0 0.00 57 5 8.06 TP53 0 genome.wustl.edu 37 17 7578406 7578406 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 7578406 7578406 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.524 p.R175H 1.000 pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs28934578 - 35 0 0.00 25 10 28.57 TRAF4 0 genome.wustl.edu 37 17 27075971 27075971 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 17 27075971 27075971 G T SNP TRAF4 ENST00000262395 human ensembl 74_37 +1 known missense c.789 p.K263N 1.000 superfamily_TRAF-like,pirsf_TNF_rcpt--assoc_TRAF,pfscan_Znf_TRAF pfam_MATH,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,smart_MATH,pirsf_TNF_rcpt--assoc_TRAF,pfscan_MATH,pfscan_Znf_RING,pfscan_Znf_TRAF - no_errors TRAF4 HGNC ENSG00000076604 tier1 - - 46 0 0.00 58 4 6.45 TRANK1 0 genome.wustl.edu 37 3 36873577 36873577 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 3 36873577 36873577 C G SNP TRANK1 ENST00000429976 human ensembl 74_37 -1 known missense c.7365 p.E2455D 0.176 NULL pfam_UvrD-like_ATP-bd,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom - no_errors TRANK1 HGNC ENSG00000168016 tier1 - - 79 0 0.00 64 8 11.11 TRIM35 0 genome.wustl.edu 37 8 27168552 27168552 + Silent SNP G G C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 8 27168552 27168552 G C SNP TRIM35 ENST00000305364 human ensembl 74_37 -1 known silent c.201 p.A67 1.000 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin - no_errors TRIM35 HGNC ENSG00000104228 tier1 - - 62 0 0.00 90 8 8.00 TRIM61 0 genome.wustl.edu 37 4 165891024 165891024 + Nonsense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 4 165891024 165891024 C T SNP TRIM61 ENST00000329314 human ensembl 74_37 -1 known nonsense c.131 p.W44* 0.997 pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING - no_errors TRIM61 HGNC ENSG00000183439 tier1 - - 148 0 0.00 181 12 6.22 TRPV6 0 genome.wustl.edu 37 7 142569658 142569658 + Missense_Mutation SNP G G T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 142569658 142569658 G T SNP TRPV6 ENST00000359396 human ensembl 74_37 -1 known missense c.1980 p.D660E 1.000 prints_TRPV6_channel,tigrfam_TRP_channel pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV5/TRPV6,prints_TRPV6_channel,prints_Ankyrin_rpt,tigrfam_TRP_channel - no_errors TRPV6 HGNC ENSG00000165125 tier1 - - 43 0 0.00 51 4 7.27 TSPYL4 0 genome.wustl.edu 37 6 116574350 116574350 + Silent SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 6 116574350 116574350 G A SNP TSPYL4 ENST00000420283 human ensembl 74_37 -1 known silent c.822 p.D274 0.621 pfam_NAP_family pfam_NAP_family - no_errors TSPYL4 HGNC ENSG00000187189 tier1 - - 67 0 0.00 68 6 8.11 TSPYL5 0 genome.wustl.edu 37 8 98289607 98289607 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 8 98289607 98289607 C A SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.466 p.A156S 0.002 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 tier1 - - 40 0 0.00 51 8 13.56 TTLL7 0 genome.wustl.edu 37 1 84414391 84414391 + RNA SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 1 84414391 84414391 A G SNP TTLL7 ENST00000472688 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors TTLL7 HGNC ENSG00000137941 tier1 - - 34 0 0.00 39 6 13.33 TTN 0 genome.wustl.edu 37 2 179400859 179400859 + Missense_Mutation SNP C C G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 179400859 179400859 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.92911 p.D30971H 1.000 pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_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_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 68 0 0.00 63 5 7.35 TXNDC16 0 genome.wustl.edu 37 14 52899183 52899183 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 14 52899183 52899183 C A SNP TXNDC16 ENST00000281741 human ensembl 74_37 -1 known missense c.2317 p.V773L 0.006 NULL pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold - no_errors TXNDC16 HGNC ENSG00000087301 tier1 - - 73 0 0.00 70 13 15.66 UNC93B1 0 genome.wustl.edu 37 11 67759316 67759316 + Missense_Mutation SNP C C T TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 67759316 67759316 C T SNP UNC93B1 ENST00000227471 human ensembl 74_37 -1 known missense c.1492 p.V498M 0.997 NULL pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt - no_errors UNC93B1 HGNC ENSG00000110057 37 0 0.00 71 7 8.97 VWA5A 0 genome.wustl.edu 37 11 123989252 123989252 + Missense_Mutation SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 123989252 123989252 A G SNP VWA5A ENST00000392748 human ensembl 74_37 +1 known missense c.482 p.D161G 0.001 NULL pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors VWA5A HGNC ENSG00000110002 tier1 - - 47 0 0.00 63 6 8.70 VWDE 0 genome.wustl.edu 37 7 12391319 12391319 + Nonsense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 12391319 12391319 G A SNP VWDE ENST00000275358 human ensembl 74_37 -1 novel nonsense c.3766 p.Q1256* 0.002 NULL pfam_EGF_extracell,pfam_VWF_type-D,superfamily_Cadherin-like,smart_VWF_type-D,smart_EG-like_dom,pfscan_EG-like_dom - no_errors VWDE HGNC ENSG00000146530 tier1 - - 55 0 0.00 44 5 10.00 WT1-AS 0 genome.wustl.edu 37 11 32462201 32462201 + RNA SNP A A G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 11 32462201 32462201 A G SNP WT1-AS ENST00000395900 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors WT1-AS HGNC ENSG00000183242 tier1 - - 46 0 0.00 39 10 20.00 XDH 0 genome.wustl.edu 37 2 31605935 31605935 + Missense_Mutation SNP T T G TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 2 31605935 31605935 T G SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.970 p.T324P 0.992 pfam_Mopterin_DH_FAD-bd,superfamily_FAD-bd_2,pirsf_Ald_Oxase/xanthine_DH,tigrfam_Xanthine_DH_ssu 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_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 88 0 0.00 71 7 8.97 ZFP14 0 genome.wustl.edu 37 19 36832184 36832184 + Missense_Mutation SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 36832184 36832184 T C SNP ZFP14 ENST00000270001 human ensembl 74_37 -1 known missense c.544 p.I182V 0.888 pfam_Znf_C2H2,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 ZFP14 HGNC ENSG00000142065 tier1 - - 43 0 0.00 49 16 24.62 ZNF212 0 genome.wustl.edu 37 7 148951091 148951091 + Missense_Mutation SNP G G A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 7 148951091 148951091 G A SNP ZNF212 ENST00000335870 human ensembl 74_37 +1 known missense c.1073 p.R358Q 0.001 NULL pfam_Znf_C2H2,pfam_DUF3669_Znf,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 ZNF212 HGNC ENSG00000170260 tier1 - - 34 0 0.00 48 5 9.43 ZNF222 0 genome.wustl.edu 37 19 44537041 44537041 + Missense_Mutation SNP G G C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 44537041 44537041 G C SNP ZNF222 ENST00000391960 human ensembl 74_37 +1 known missense c.1334 p.R445T 0.000 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 ZNF222 HGNC ENSG00000159885 30 0 0.00 30 2 6.25 ZNF300 0 genome.wustl.edu 37 5 150275679 150275679 + Missense_Mutation SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 5 150275679 150275679 T C SNP ZNF300 ENST00000446148 human ensembl 74_37 -1 known missense c.1170 p.I390M 0.989 pfam_Znf_C2H2,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 ZNF300 HGNC ENSG00000145908 tier1 - - 76 0 0.00 83 7 7.78 ZNF536 0 genome.wustl.edu 37 19 30936232 30936232 + Missense_Mutation SNP T T C TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 19 30936232 30936232 T C SNP ZNF536 ENST00000355537 human ensembl 74_37 +1 known missense c.1763 p.V588A 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF536 HGNC ENSG00000198597 tier1 - - 53 0 0.00 43 9 17.31 ZNF831 0 genome.wustl.edu 37 20 57829715 57829715 + Missense_Mutation SNP C C A TCGA-IG-A3YA-01A-11D-A247-09 TCGA-IG-A3YA-10A-01D-A247-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 83152189-f14c-4816-b37f-1c7c9415b42c 279e35d6-308d-46ad-944d-0ef7e38237b1 20 57829715 57829715 C A SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.4951 p.L1651M 0.554 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 20 0 0.00 7 3 30.00