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 dbSNP GMAF n_ref_count n_alt_count normal_vaf t_ref_count t_alt_count tumor_vaf n_ref_count_val n_alt_count_val normal_vaf_val t_ref_count_val t_alt_count_val tumor_vaf_val CILP2 0 genome.wustl.edu 37 19 19654173 19654173 + Missense_Mutation SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 19 19654173 19654173 C T SNP CILP2 ENST00000291495 human ensembl 74_37 +1 known missense c.1094 p.A365V 0.700 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,superfamily_Thrombospondin_1_rpt,superfamily_CarboxyPept-like_regulatory,superfamily_Carb-bd-like_fold,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors CILP2 HGNC ENSG00000160161 tier1 - - 60 0 0.00 132 19 12.58 27 0 0.00 25 5 16.67 COBL 0 genome.wustl.edu 37 7 51096413 51096413 + Missense_Mutation SNP T T A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 7 51096413 51096413 T A SNP COBL ENST00000395542 human ensembl 74_37 -1 known missense c.2626 p.T876S 0.000 NULL pfam_Cordon-bleu_ubiquitin_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors COBL HGNC ENSG00000106078 tier1 - - 23 0 0.00 28 21 42.00 60 0 0.00 39 27 40.91 IFT27 0 genome.wustl.edu 37 22 37154392 37154392 + Missense_Mutation SNP T T A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 22 37154392 37154392 T A SNP IFT27 ENST00000433985 human ensembl 74_37 -1 known missense c.524 p.Y175F 1.000 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors IFT27 HGNC ENSG00000100360 tier1 - - 74 0 0.00 126 31 19.62 130 0 0.00 131 27 16.98 KRT26 0 genome.wustl.edu 37 17 38928025 38928025 + Missense_Mutation SNP T T G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 17 38928025 38928025 T G SNP KRT26 ENST00000335552 human ensembl 74_37 -1 known missense c.341 p.K114T 1.000 pfam_IF pfam_IF,superfamily_Prefoldin,prints_Keratin_I - no_errors KRT26 HGNC ENSG00000186393 tier1 - - 40 0 0.00 41 8 16.33 38 0 0.00 18 2 10.00 ZSCAN5B 0 genome.wustl.edu 37 19 56701298 56701298 + Silent SNP G G A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 19 56701298 56701298 G A SNP ZSCAN5B ENST00000358992 human ensembl 74_37 -1 known silent c.1386 p.S462 0.000 pfscan_Znf_C2H2 pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN5B HGNC ENSG00000197213 tier1 - - 80 0 0.00 66 37 35.92 120 1 0.83 75 34 30.91 RIMS2 0 genome.wustl.edu 37 8 104709367 104709367 + Missense_Mutation SNP A A C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 8 104709367 104709367 A C SNP RIMS2 ENST00000406091 human ensembl 74_37 +1 known missense c.230 p.E77A 1.000 superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS2 HGNC ENSG00000176406 tier1 - - 45 0 0.00 83 13 13.54 95 0 0.00 118 23 16.31 ENSG00000223730 0 genome.wustl.edu 37 22 45297795 45297795 + R SNP G G C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 22 45297795 45297795 G C SNP ENSG00000223730 ENST00000431036 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP1-127B20.4 Clone_based_vega_gene ENSG00000223730 tier1 - - 10 0 0.00 44 8 15.38 83 1 1.19 83 31 26.96 CCDC144A 0 genome.wustl.edu 37 17 16623536 16623536 + Silent SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 17 16623536 16623536 A G SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known silent c.1740 p.E580 0.957 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 tier1 - - 51 0 0.00 123 20 13.99 81 0 0.00 75 17 18.48 GRSF1 0 genome.wustl.edu 37 4 71686565 71686565 + R SNP C C A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 4 71686565 71686565 C A SNP GRSF1 ENST00000508091 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors GRSF1 HGNC ENSG00000132463 tier1 - - 32 0 0.00 33 35 51.47 91 0 0.00 45 71 61.21 INO80C 0 genome.wustl.edu 37 18 33048664 33048664 + Missense_Mutation SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 18 33048664 33048664 T C SNP INO80C ENST00000441607 human ensembl 74_37 -1 known missense c.598 p.I200V 0.138 pfam_YL1_C pfam_YL1_C - no_errors INO80C HGNC ENSG00000153391 tier1 - - 80 0 0.00 79 47 37.01 98 0 0.00 29 32 52.46 FBN1 0 genome.wustl.edu 37 15 48826356 48826356 + Missense_Mutation SNP A A T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 15 48826356 48826356 A T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.783 p.N261K 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom 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 - - 54 0 0.00 97 12 11.01 55 0 0.00 48 6 11.11 MACF1 0 genome.wustl.edu 37 1 39765937 39765937 + Missense_Mutation SNP G G A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 39765937 39765937 G A SNP MACF1 ENST00000317713 human ensembl 74_37 +1 known missense c.2552 p.R851K 1.000 NULL pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_dom,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors MACF1 HGNC ENSG00000127603 tier1 - - 38 0 0.00 72 16 18.18 86 0 0.00 81 18 17.82 MIR3907 0 genome.wustl.edu 37 7 151130689 151130689 + R SNP G G A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 7 151130689 151130689 G A SNP MIR3907 ENST00000579424 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MIR3907 HGNC ENSG00000265810 tier1 - - 122 1 0.81 153 112 42.26 72 0 0.00 36 12 25.00 OR56B1 0 genome.wustl.edu 37 11 5757842 5757842 + Missense_Mutation SNP G G C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 11 5757842 5757842 G C SNP OR56B1 ENST00000317121 human ensembl 74_37 +1 known missense c.96 p.W32C 1.000 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR56B1 HGNC ENSG00000181023 tier1 - - 31 0 0.00 51 21 29.17 87 0 0.00 70 28 28.57 ETV7 0 genome.wustl.edu 37 6 36353379 36353379 + Missense_Mutation SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 6 36353379 36353379 T C SNP ETV7 ENST00000340181 human ensembl 74_37 -1 known missense c.74 p.Q25R 0.008 superfamily_SAM/pointed pfam_Ets_dom,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets_dom,pfscan_Ets_dom,prints_Ets_dom - no_errors ETV7 HGNC ENSG00000010030 tier1 - - 26 0 0.00 20 10 33.33 86 0 0.00 34 32 48.48 MIR520A 0 genome.wustl.edu 37 19 54194150 54194150 + R SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 19 54194150 54194150 T C SNP MIR520A ENST00000384862 human ensembl 74_37 +1 known rna NULL NULL 0.120 - - - no_errors MIR520A HGNC ENSG00000207594 tier1 - - 96 0 0.00 115 52 31.14 27 0 0.00 18 6 25.00 ALOXE3 0 genome.wustl.edu 37 17 8006780 8006780 + Missense_Mutation SNP G G T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 17 8006780 8006780 G T SNP ALOXE3 ENST00000318227 human ensembl 74_37 -1 known missense c.2213 p.P738Q 1.000 pfam_LipOase_C,superfamily_LipOase_C pfam_LipOase_C,pfam_PLAT/LH2_dom,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pfscan_PLAT/LH2_dom,prints_LipOase_C - no_errors ALOXE3 HGNC ENSG00000179148 tier1 - - 73 0 0.00 82 21 20.39 76 0 0.00 95 24 20.17 PRRC2B 0 genome.wustl.edu 37 9 134343099 134343099 + Missense_Mutation SNP C C A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 9 134343099 134343099 C A SNP PRRC2B ENST00000357304 human ensembl 74_37 +1 known missense c.1870 p.L624I 0.445 NULL pfam_BAT2_N - no_errors PRRC2B HGNC ENSG00000130723 tier1 - - 70 0 0.00 61 32 34.41 97 0 0.00 38 14 26.92 WIPF3 0 genome.wustl.edu 37 7 29874401 29874401 + Missense_Mutation SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 7 29874401 29874401 C T SNP WIPF3 ENST00000242140 human ensembl 74_37 +1 known missense c.61 p.P21S 1.000 NULL pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom - no_errors WIPF3 HGNC ENSG00000122574 tier1 - - 106 1 0.93 203 63 23.60 36 0 0.00 27 11 28.95 IGLON5 0 genome.wustl.edu 37 19 51827072 51827072 + Silent SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 19 51827072 51827072 C T SNP IGLON5 ENST00000270642 human ensembl 74_37 +1 known silent c.315 p.G105 0.653 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors IGLON5 HGNC ENSG00000142549 tier1 - - 60 0 0.00 83 10 10.75 48 0 0.00 25 7 21.88 ZNF615 0 genome.wustl.edu 37 19 52497670 52497670 + Missense_Mutation SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 19 52497670 52497670 A G SNP ZNF615 ENST00000594083 human ensembl 74_37 -1 known missense c.692 p.I231T 0.000 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 ZNF615 HGNC ENSG00000197619 tier1 - - 40 0 0.00 54 20 27.03 65 0 0.00 45 15 25.00 PCLO 0 genome.wustl.edu 37 7 82578814 82578814 + Missense_Mutation SNP A A T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 7 82578814 82578814 A T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.11090 p.F3697Y 1.000 NULL pfam_Znf_piccolo,pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ - no_errors PCLO HGNC ENSG00000186472 tier1 - - 38 0 0.00 46 24 34.29 112 1 0.88 75 26 25.74 SPATA31D1 0 genome.wustl.edu 37 9 84607869 84607869 + Silent SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 9 84607869 84607869 T C SNP SPATA31D1 ENST00000344803 human ensembl 74_37 +1 known silent c.2484 p.N828 0.000 NULL NULL - no_errors SPATA31D1 HGNC ENSG00000214929 tier1 - - 52 0 0.00 73 85 53.80 98 0 0.00 55 47 45.63 HERC3 0 genome.wustl.edu 37 4 89574169 89574169 + Silent SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 4 89574169 89574169 C T SNP HERC3 ENST00000264345 human ensembl 74_37 +1 known silent c.613 p.L205 1.000 pfam_Reg_chr_condens,superfamily_RCC1/BLIP-II,pfscan_Reg_chr_condens pfam_Reg_chr_condens,pfam_HECT,superfamily_HECT,superfamily_RCC1/BLIP-II,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens - no_errors HERC3 HGNC ENSG00000138641 tier1 - - 52 0 0.00 67 42 38.53 68 0 0.00 40 30 42.86 RIOK1 0 genome.wustl.edu 37 6 7398933 7398933 + Missense_Mutation SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 6 7398933 7398933 A G SNP RIOK1 ENST00000379834 human ensembl 74_37 +1 known missense c.440 p.Y147C 1.000 pirsf_Ser/Thr_kinase_Rio1 pfam_RIO-like_kinase,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio1 - no_errors RIOK1 HGNC ENSG00000124784 tier1 - - 37 0 0.00 36 35 49.30 104 0 0.00 50 26 34.21 WDR64 0 genome.wustl.edu 37 1 241907737 241907737 + Nonsense_Mutation SNP G G T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 241907737 241907737 G T SNP WDR64 ENST00000366552 human ensembl 74_37 +1 known nonsense c.1483 p.E495* 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR64 HGNC ENSG00000162843 tier1 - - 63 0 0.00 11 59 84.29 74 1 1.33 10 28 73.68 XIRP2 0 genome.wustl.edu 37 2 168108404 168108404 + Missense_Mutation SNP C C A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 2 168108404 168108404 C A SNP XIRP2 ENST00000295237 human ensembl 74_37 +1 known missense c.10502 p.A3501D 0.128 NULL pfam_Actin-binding_Xin_repeat - no_errors XIRP2 HGNC ENSG00000163092 tier1 - - 49 0 0.00 38 4 9.52 83 0 0.00 56 9 13.85 VWCE 0 genome.wustl.edu 37 11 61058764 61058764 + Missense_Mutation SNP C C G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 11 61058764 61058764 C G SNP VWCE ENST00000335613 human ensembl 74_37 -1 known missense c.267 p.Q89H 0.998 smart_EG-like_dom pfam_VWF_C,pfam_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWF_C,smart_VWC_out,pfscan_EG-like_dom,pfscan_VWF_C - no_errors VWCE HGNC ENSG00000167992 tier1 - - 39 0 0.00 46 12 20.69 93 1 1.06 37 28 43.08 C6orf163 0 genome.wustl.edu 37 6 88054895 88054895 + Silent SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 6 88054895 88054895 A G SNP C6orf163 ENST00000388923 human ensembl 74_37 +1 known silent c.78 p.G26 0.309 NULL NULL - no_errors C6orf163 HGNC ENSG00000203872 tier1 - - 52 0 0.00 137 13 8.67 108 0 0.00 99 18 15.38 FRAS1 0 genome.wustl.edu 37 4 79461845 79461845 + Missense_Mutation SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 4 79461845 79461845 T C SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.11606 p.I3869T 1.000 NULL pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 16 0 0.00 34 15 30.61 96 0 0.00 56 22 28.21 RGS18 0 genome.wustl.edu 37 1 192127851 192127851 + Silent SNP A A T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 192127851 192127851 A T SNP RGS18 ENST00000367460 human ensembl 74_37 +1 known silent c.84 p.S28 0.752 NULL pfam_RGS_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal_superfam,pfscan_Regulat_G_prot_signal_superfam,prints_RGS_dom - no_errors RGS18 HGNC ENSG00000150681 tier1 - - 36 0 0.00 138 21 13.21 98 0 0.00 242 61 20.13 ANKRD28 0 genome.wustl.edu 37 3 15711767 15711767 + R SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 3 15711767 15711767 C T SNP ANKRD28 ENST00000497037 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors ANKRD28 HGNC ENSG00000206560 tier1 - - 26 0 0.00 31 21 39.62 75 0 0.00 44 23 34.33 CEP89 0 genome.wustl.edu 37 19 33428567 33428567 + Missense_Mutation SNP G G A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 19 33428567 33428567 G A SNP CEP89 ENST00000305768 human ensembl 74_37 -1 known missense c.637 p.P213S 0.008 NULL NULL - no_errors CEP89 HGNC ENSG00000121289 tier1 - - 110 0 0.00 121 59 32.78 115 0 0.00 83 44 34.38 FBN1 0 genome.wustl.edu 37 15 48826355 48826355 + Missense_Mutation SNP A A T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 15 48826355 48826355 A T SNP FBN1 ENST00000316623 human ensembl 74_37 -1 known missense c.784 p.C262S 1.000 pfam_EGF-like_Ca-bd_dom,superfamily_TB_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom 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 - - 54 0 0.00 98 12 10.91 56 0 0.00 48 6 11.11 GALNT1 0 genome.wustl.edu 37 18 33234543 33234543 + R SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 18 33234543 33234543 A G SNP GALNT1 ENST00000586725 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors GALNT1 HGNC ENSG00000141429 tier1 - - 26 0 0.00 7 7 50.00 20 0 0.00 21 8 27.59 IGHV1OR21-1 0 genome.wustl.edu 37 21 10862964 10862964 + Missense_Mutation SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 21 10862964 10862964 T C SNP IGHV1OR21-1 ENST00000559480 human ensembl 74_37 +1 known missense c.260 p.V87A 0.929 pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom pfam_Ig_V-set,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGHV1OR21-1 HGNC ENSG00000169861 tier1 - - 145 0 0.00 211 57 21.27 33 0 0.00 31 7 18.42 PHF13 0 genome.wustl.edu 37 1 6682484 6682484 + R SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 6682484 6682484 C T SNP PHF13 ENST00000495385 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors PHF13 HGNC ENSG00000116273 tier1 - - 34 0 0.00 72 29 28.71 69 0 0.00 63 13 17.11 MDM1 0 genome.wustl.edu 37 12 68707424 68707424 + Missense_Mutation SNP C C A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 12 68707424 68707424 C A SNP MDM1 ENST00000303145 human ensembl 74_37 -1 known missense c.1609 p.G537C 1.000 NULL NULL - no_errors MDM1 HGNC ENSG00000111554 tier1 - - 44 0 0.00 34 49 59.04 121 0 0.00 53 60 53.10 AGRN 0 genome.wustl.edu 37 1 982235 982235 + Missense_Mutation SNP C C A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 982235 982235 C A SNP AGRN ENST00000379370 human ensembl 74_37 +1 known missense c.3286 p.P1096T 0.410 NULL pfam_Laminin_G,pfam_Agrin_NtA,pfam_Kazal_dom,pfam_EGF_laminin,pfam_SEA_dom,pfam_EG-like_dom,superfamily_TIMP-like_OB-fold,superfamily_ConA-like_lec_gl_sf,smart_FacI_MAC,smart_Fol_N,smart_Kazal_dom,smart_EG-like_dom,smart_EGF_laminin,smart_SEA_dom,smart_EGF-like_Ca-bd_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Agrin_NtA,pfscan_SEA_dom - no_errors AGRN HGNC ENSG00000188157 tier1 - - 42 0 0.00 75 25 25.00 26 0 0.00 8 6 42.86 C9orf16 0 genome.wustl.edu 37 9 130922685 130922685 + R SNP C C G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 9 130922685 130922685 C G SNP C9orf16 ENST00000489240 human ensembl 74_37 +1 known rna NULL NULL 0.959 - - - no_errors C9orf16 HGNC ENSG00000171159 tier1 - - 23 0 0.00 20 12 37.50 5 0 0.00 1 3 75.00 MAGEA4 0 genome.wustl.edu 37 X 151092443 151092443 + Missense_Mutation SNP G G C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 X 151092443 151092443 G C SNP MAGEA4 ENST00000276344 human ensembl 74_37 +1 known missense c.307 p.E103Q 0.000 NULL pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEA4 HGNC ENSG00000147381 tier1 - - 21 0 0.00 8 39 82.98 41 0 0.00 5 20 80.00 SEC14L5 0 genome.wustl.edu 37 16 5047002 5047002 + Silent SNP G G C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 16 5047002 5047002 G C SNP SEC14L5 ENST00000251170 human ensembl 74_37 +1 known silent c.927 p.L309 0.690 superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom pfam_PRELI/MSF1,pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_CRAL/TRIO_N_dom,superfamily_GOLD,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,pfscan_PRELI/MSF1,prints_CRAL-bd_toc_tran - no_errors SEC14L5 HGNC ENSG00000103184 tier1 - - 39 0 0.00 2 23 92.00 48 0 0.00 6 19 76.00 TAF1C 0 genome.wustl.edu 37 16 84212906 84212906 + Missense_Mutation SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 16 84212906 84212906 T C SNP TAF1C ENST00000378541 human ensembl 74_37 -1 known missense c.2251 p.K751E 0.996 NULL superfamily_WD40_repeat_dom - no_errors TAF1C HGNC ENSG00000103168 tier1 - - 14 0 0.00 13 11 45.83 9 0 0.00 8 7 46.67 TKTL1 0 genome.wustl.edu 37 X 153537793 153537793 + Missense_Mutation SNP A A T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 X 153537793 153537793 A T SNP TKTL1 ENST00000369915 human ensembl 74_37 +1 known missense c.349 p.S117C 1.000 pfam_Transketolase_N,pfam_DH_E1 pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL1 HGNC ENSG00000007350 tier1 - - 31 0 0.00 9 20 68.97 47 0 0.00 3 30 90.91 TMCO3 0 genome.wustl.edu 37 13 114150047 114150047 + Missense_Mutation SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 13 114150047 114150047 C T SNP TMCO3 ENST00000434316 human ensembl 74_37 +1 known missense c.151 p.R51W 0.000 NULL pfam_Cation/H_exchanger - no_errors TMCO3 HGNC ENSG00000150403 tier1 - - 53 0 0.00 5 34 87.18 49 0 0.00 9 11 55.00 AOC4P 0 genome.wustl.edu 37 17 41020025 41020025 + R SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 17 41020025 41020025 T C SNP AOC4P ENST00000562301 human ensembl 74_37 +1 known rna NULL NULL 0.632 - - - no_errors AOC4P HGNC ENSG00000260105 tier1 - - 43 0 0.00 31 7 18.42 85 0 0.00 55 4 6.78 SAP130 0 genome.wustl.edu 37 2 128783869 128783869 + Missense_Mutation SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 2 128783869 128783869 C T SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.76 p.E26K 1.000 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 - - 87 0 0.00 95 17 15.18 77 0 0.00 79 7 8.14 LRP2 0 genome.wustl.edu 37 2 170060691 170060691 + Silent SNP G G C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 2 170060691 170060691 G C SNP LRP2 ENST00000263816 human ensembl 74_37 -1 known silent c.7806 p.G2602 0.992 smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,superfamily_TIL_dom,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt,prints_LDrepeatLR_classA_rpt - no_errors LRP2 HGNC ENSG00000081479 tier1 - - 36 0 0.00 45 6 11.76 75 0 0.00 50 4 7.41 ZSCAN23 0 genome.wustl.edu 37 6 28403655 28403655 + Missense_Mutation SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 6 28403655 28403655 A G SNP ZSCAN23 ENST00000289788 human ensembl 74_37 -1 known missense c.389 p.L130P 1.000 pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN23 HGNC ENSG00000187987 tier1 - - 30 0 0.00 49 8 14.04 73 0 0.00 58 4 6.45 MAN1C1 0 genome.wustl.edu 37 1 26085135 26085135 + Missense_Mutation SNP G G C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 26085135 26085135 G C SNP MAN1C1 ENST00000374332 human ensembl 74_37 +1 known missense c.982 p.G328R 1.000 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47 pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47 - no_errors MAN1C1 HGNC ENSG00000117643 tier1 - - 74 0 0.00 121 23 15.97 104 0 0.00 76 7 8.43 ITGA10 0 genome.wustl.edu 37 1 145528030 145528030 + Silent SNP C C A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 145528030 145528030 C A SNP ITGA10 ENST00000369304 human ensembl 74_37 +1 known silent c.267 p.G89 0.999 smart_Int_alpha_beta-p pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGA10 HGNC ENSG00000143127 tier1 - - 38 0 0.00 63 10 13.70 70 0 0.00 83 7 7.69 KHDRBS1 0 genome.wustl.edu 37 1 32508537 32508537 + R DEL A A - TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 1 32508537 32508537 A - DEL KHDRBS1 ENST00000307714 human ensembl 74_37 +1 known rna NULL NULL 0.903 - - - no_errors KHDRBS1 HGNC ENSG00000121774 tier1 32 0 0.00 61 10 14.08 52 1 1.89 69 5 6.76 SIMC1 0 genome.wustl.edu 37 5 175717627 175717627 + Missense_Mutation SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 5 175717627 175717627 C T SNP SIMC1 ENST00000443967 human ensembl 74_37 +1 known missense c.1043 p.P348L 0.007 NULL NULL - no_errors SIMC1 HGNC ENSG00000170085 tier1 rs151017862 - 42 0 0.00 45 12 21.05 102 2 1.92 43 12 21.82 ANKRD12 0 genome.wustl.edu 37 18 9256918 9256918 + Missense_Mutation SNP C C T TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 18 9256918 9256918 C T SNP ANKRD12 ENST00000262126 human ensembl 74_37 +1 known missense c.3653 p.T1218I 0.998 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors ANKRD12 HGNC ENSG00000101745 tier1 - - 45 0 0.00 44 25 36.23 111 2 1.77 49 27 35.53 PDE6A 0 genome.wustl.edu 37 5 149245772 149245772 + Silent SNP T T C TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 5 149245772 149245772 T C SNP PDE6A ENST00000255266 human ensembl 74_37 -1 known silent c.2319 p.Q773 1.000 pfam_PDEase_catalytic_dom pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE6A HGNC ENSG00000132915 tier1 - - 57 0 0.00 42 34 44.74 142 2 1.39 46 35 43.21 FAM157B 0 genome.wustl.edu 37 9 141124247 141124247 + R SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 9 141124247 141124247 A G SNP FAM157B ENST00000540522 human ensembl 74_37 +1 known rna NULL NULL 0.024 - - - no_errors FAM157B HGNC ENSG00000233013 tier1 - - 47 0 0.00 4 4 50.00 27 0 0.00 6 0 0.00 CARD10 0 genome.wustl.edu 37 22 37906308 37906309 + In_Frame_Ins INS - - CTCCTT TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 22 37906308 37906309 - CTCCTT INS CARD10 ENST00000251973 human ensembl 74_37 -1 known in_frame_ins c.820_819 p.273in_frame_insKE 0.840:0.939 NULL pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD - no_errors CARD10 HGNC ENSG00000100065 tier1 1 0 0.00 3 0 0.00 1 0 0.00 3 0 0.00 MT-RNR2 0 genome.wustl.edu 37 MT 1978 1978 + R SNP A A G TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 MT 1978 1978 A G SNP MT-RNR2 ENST00000387347 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR2 HGNC ENSG00000210082 tier1 - - 42 0 0.00 10 2 16.67 2 0 0.00 0 0 0.00 WISP2 0 genome.wustl.edu 37 20 43343871 43343880 + R DEL TGTGTGTGTG TGTGTGTGTG - TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 TGTGTGTGTG TGTGTGTGTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 20 43343871 43343880 TGTGTGTGTG - DEL WISP2 ENST00000497421 human ensembl 74_37 +1 known rna NULL NULL 0.044:0.049:0.052:0.062:0.059:0.007:0.005:0.003:0.005:0.006 - - - no_errors WISP2 HGNC ENSG00000064205 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 KIF16B 0 genome.wustl.edu 37 20 16360001 16360001 + Silent SNP G G A TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 20 16360001 16360001 G A SNP KIF16B ENST00000408042 human ensembl 74_37 -1 known silent c.2646 p.V882 0.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF16B HGNC ENSG00000089177 tier1 - - 35 0 0.00 37 4 9.76 83 0 0.00 55 3 5.08 ANXA1 0 genome.wustl.edu 37 9 75777685 75777724 + Frame_Shift_Del DEL TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA - TCGA-VT-A80G-01A-11D-A36J-09 TCGA-VT-A80G-11A-22D-A36M-09 TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 76a70cc5-3cd1-4f21-b3ec-b076e3f30b74 b47de334-7363-417c-bd01-3a1542efabc1 9 75777685 75777724 TCTTTTTTCTCAGAACTGAAGAGAGATCTGGCCAAAGACA - DEL ANXA1 ENST00000257497 human ensembl 74_37 +1 known frame_shift_del c.489_502 p.D178fs 0.000:0.000:0.004:0.000:0.000:0.000:0.000:0.001:0.000:0.000:0.039:0.985:1.000:1.000:0.988:0.985:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.999:1.000 pfam_Annexin_repeat,smart_Annexin_repeat pfam_Annexin_repeat,smart_Annexin_repeat,prints_Annexin,prints_AnnexinI - no_errors ANXA1 HGNC ENSG00000135046 tier1 64 0 0.00 69 2 2.82 64 0 0.00 69 2 2.82