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 HYDIN 0 genome.wustl.edu 37 16 70902531 70902531 + Missense_Mutation SNP G G C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 16 70902531 70902531 G C SNP HYDIN ENST00000393567 human ensembl 74_37 -1 putative missense c.11252 p.T3751R 0.998 NULL superfamily_P-loop_NTPase,superfamily_PapD-like - no_errors HYDIN HGNC ENSG00000157423 tier1 - - 98 0 0.00 73 23 23.96 94 0 0.00 29 21 42.00 CSRNP3 0 genome.wustl.edu 37 2 166535783 166535783 + Silent SNP T T A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 2 166535783 166535783 T A SNP CSRNP3 ENST00000314499 human ensembl 74_37 +1 known silent c.1278 p.A426 0.988 NULL prints_Cys/Ser-rich_nuc_prot - no_errors CSRNP3 HGNC ENSG00000178662 tier1 - - 41 0 0.00 40 8 16.67 99 0 0.00 51 17 25.00 ACKR2 0 genome.wustl.edu 37 3 42929043 42929043 + R SNP A A G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 3 42929043 42929043 A G SNP ACKR2 ENST00000460855 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors ACKR2 HGNC ENSG00000144648 tier1 - - 75 0 0.00 60 13 17.81 119 0 0.00 89 11 11.00 SLC13A5 0 genome.wustl.edu 37 17 6606359 6606359 + Missense_Mutation SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 17 6606359 6606359 C T SNP SLC13A5 ENST00000433363 human ensembl 74_37 -1 known missense c.646 p.A216T 1.000 pfam_Na/sul_symport pfam_Na/sul_symport,pfam_Cit_transptr-like_dom - no_errors SLC13A5 HGNC ENSG00000141485 tier1 - - 74 0 0.00 70 37 34.58 25 0 0.00 17 7 29.17 THOC1 0 genome.wustl.edu 37 18 215471 215471 + Missense_Mutation SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 18 215471 215471 C T SNP THOC1 ENST00000261600 human ensembl 74_37 -1 known missense c.1636 p.E546K 1.000 NULL pfam_THO_THOC1,pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain - no_errors THOC1 HGNC ENSG00000079134 tier1 - - 31 0 0.00 40 14 25.93 100 0 0.00 65 15 18.75 ESX1 0 genome.wustl.edu 37 X 103498855 103498855 + Silent SNP T T C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 X 103498855 103498855 T C SNP ESX1 ENST00000372588 human ensembl 74_37 -1 known silent c.486 p.Q162 0.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_POU - no_errors ESX1 HGNC ENSG00000123576 tier1 - - 69 0 0.00 44 28 38.89 25 0 0.00 19 7 26.92 TMC1 0 genome.wustl.edu 37 9 75309519 75309519 + Missense_Mutation SNP G G C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 9 75309519 75309519 G C SNP TMC1 ENST00000297784 human ensembl 74_37 +1 known missense c.125 p.R42T 1.000 NULL pfam_TMC - no_errors TMC1 HGNC ENSG00000165091 tier1 - - 28 0 0.00 47 6 11.32 84 0 0.00 60 8 11.76 ZNF345 0 genome.wustl.edu 37 19 37367976 37367976 + Nonsense_Mutation SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 19 37367976 37367976 C T SNP ZNF345 ENST00000420450 human ensembl 74_37 +1 known nonsense c.244 p.R82* 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF345 HGNC ENSG00000251247 tier1 rs202011849 - 25 0 0.00 33 10 23.26 81 0 0.00 69 14 16.87 JMJD7-PLA2G4B 0 genome.wustl.edu 37 15 42120356 42120356 + Missense_Mutation SNP G G C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 15 42120356 42120356 G C SNP JMJD7-PLA2G4B ENST00000382448 human ensembl 74_37 +1 known missense c.34 p.E12Q 0.000 NULL pfam_LysoPLipase_cat_dom,pfam_C2_dom,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_dom,smart_JmjC_dom,smart_C2_dom,smart_LysoPLipase_cat_dom,pfscan_JmjC_dom,pfscan_C2_dom,pfscan_LysoPLipase_cat_dom - no_errors JMJD7-PLA2G4B HGNC ENSG00000168970 tier1 - - 38 0 0.00 38 6 13.64 15 0 0.00 10 3 23.08 PRICKLE4 0 genome.wustl.edu 37 6 41752638 41752638 + R SNP G G C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 6 41752638 41752638 G C SNP PRICKLE4 ENST00000463606 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors PRICKLE4 HGNC ENSG00000124593 tier1 - - 82 0 0.00 87 27 23.68 66 0 0.00 58 12 17.14 SOAT1 0 genome.wustl.edu 37 1 179322767 179322767 + Nonsense_Mutation SNP C C A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 1 179322767 179322767 C A SNP SOAT1 ENST00000367619 human ensembl 74_37 +1 known nonsense c.1644 p.Y548* 0.036 NULL pfam_MBOAT_fam - no_errors SOAT1 HGNC ENSG00000057252 tier1 - - 57 0 0.00 49 32 39.51 127 0 0.00 75 78 50.98 TYR 0 genome.wustl.edu 37 11 88911582 88911582 + Missense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 11 88911582 88911582 G A SNP TYR ENST00000263321 human ensembl 74_37 +1 known missense c.461 p.G154E 1.000 superfamily_Unchr_di-copper_centre pfam_Tyrosinase,superfamily_Unchr_di-copper_centre,prints_Tyrosinase - no_errors TYR HGNC ENSG00000077498 tier1 rs200471520 GMAF=0.0005 34 0 0.00 34 11 24.44 147 0 0.00 105 23 17.97 AKAP6 0 genome.wustl.edu 37 14 33015886 33015886 + Nonsense_Mutation SNP C C G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 14 33015886 33015886 C G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known nonsense c.2027 p.S676* 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 15 0 0.00 13 6 31.58 71 0 0.00 45 27 37.50 PCDHGB3 0 genome.wustl.edu 37 5 140750156 140750156 + Missense_Mutation SNP C C A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 5 140750156 140750156 C A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.195 p.N65K 0.691 pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGB3 HGNC ENSG00000262209 tier1 - - 22 0 0.00 29 9 23.68 100 0 0.00 33 23 41.07 NBPF1 0 genome.wustl.edu 37 1 16913618 16913618 + Missense_Mutation SNP T T G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 1 16913618 16913618 T G SNP NBPF1 ENST00000430580 human ensembl 74_37 -1 novel missense c.705 p.K235N 0.004 pfam_NBPF_dom pfam_NBPF_dom - no_errors NBPF1 HGNC ENSG00000219481 tier1 - - 177 0 0.00 180 55 23.40 21 0 0.00 14 5 26.32 RCAN2 0 genome.wustl.edu 37 6 46216533 46216533 + Missense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 6 46216533 46216533 G A SNP RCAN2 ENST00000306764 human ensembl 74_37 -1 known missense c.326 p.S109F 1.000 pfam_Calcipressin pfam_Calcipressin - no_errors RCAN2 HGNC ENSG00000172348 tier1 - - 42 0 0.00 23 42 64.62 97 0 0.00 12 54 81.82 SETBP1 0 genome.wustl.edu 37 18 42530827 42530827 + Missense_Mutation SNP A A G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 18 42530827 42530827 A G SNP SETBP1 ENST00000282030 human ensembl 74_37 +1 known missense c.1522 p.T508A 0.000 NULL smart_AT_hook_D-bd_motif - no_errors SETBP1 HGNC ENSG00000152217 tier1 - - 38 0 0.00 24 10 29.41 70 0 0.00 45 13 22.03 MUC4 0 genome.wustl.edu 37 3 195515857 195515857 + Missense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 3 195515857 195515857 G A SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.2594 p.S865F 0.004 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 - - 29 0 0.00 45 18 28.57 88 0 0.00 64 24 27.27 ITGAD 0 genome.wustl.edu 37 16 31409218 31409218 + Missense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 16 31409218 31409218 G A SNP ITGAD ENST00000389202 human ensembl 74_37 +1 known missense c.415 p.D139N 0.002 NULL pfam_Integrin_alpha-2,pfam_VWF_A,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAD HGNC ENSG00000156886 tier1 - - 51 0 0.00 76 12 13.64 33 0 0.00 24 8 25.00 AZGP1 0 genome.wustl.edu 37 7 99569380 99569380 + Missense_Mutation SNP T T C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 7 99569380 99569380 T C SNP AZGP1 ENST00000292401 human ensembl 74_37 -1 known missense c.326 p.N109S 0.932 pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom,prints_MHC_I_a - no_errors AZGP1 HGNC ENSG00000160862 tier1 - - 113 0 0.00 71 37 33.94 62 0 0.00 19 7 26.92 FL 0 genome.wustl.edu 37 X 153588251 153588251 + Silent SNP A A T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 X 153588251 153588251 A T SNP FL ENST00000369850 human ensembl 74_37 -1 known silent c.3828 p.T1276 0.136 pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like - no_errors FL HGNC ENSG00000196924 tier1 - - 50 0 0.00 45 21 31.82 12 0 0.00 16 7 30.43 ZSCAN29 0 genome.wustl.edu 37 15 43656522 43656522 + Silent SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 15 43656522 43656522 C T SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known silent c.1281 p.Q427 1.000 NULL 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 ZSCAN29 HGNC ENSG00000140265 tier1 - - 78 0 0.00 79 14 14.89 113 0 0.00 116 33 22.15 PFAS 0 genome.wustl.edu 37 17 8167128 8167128 + Nonsense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 17 8167128 8167128 G A SNP PFAS ENST00000314666 human ensembl 74_37 +1 known nonsense c.1665 p.W555* 1.000 pfam_AIR_synth_C_dom,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth pfam_AIR_synth_C_dom,pfam_AIR_synth_N_dom,superfamily_PurM_N-like,superfamily_AIR_synth_C_dom,tigrfam_PRibForGlyAmidine_synth - no_errors PFAS HGNC ENSG00000178921 tier1 - - 77 0 0.00 68 19 21.59 60 0 0.00 69 22 24.18 RUSC1-AS1 0 genome.wustl.edu 37 1 155287648 155287648 + R SNP T T G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 1 155287648 155287648 T G SNP RUSC1-AS1 ENST00000446880 human ensembl 74_37 -1 known rna NULL NULL 0.092 - - - no_errors RUSC1-AS1 HGNC ENSG00000225855 tier1 - - 24 0 0.00 37 20 35.09 35 0 0.00 28 29 50.88 NCF4 0 genome.wustl.edu 37 22 37266539 37266539 + Missense_Mutation SNP A A T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 22 37266539 37266539 A T SNP NCF4 ENST00000397147 human ensembl 74_37 +1 known missense c.425 p.Q142L 1.000 superfamily_Phox,prints_NCF_P40 pfam_Phox,pfam_SH3_domain,pfam_SH3_2,superfamily_Phox,superfamily_SH3_domain,smart_Phox,smart_SH3_domain,pfscan_Phox,pfscan_SH3_domain,prints_NCF_P40,prints_p67phox - no_errors NCF4 HGNC ENSG00000100365 tier1 - - 30 0 0.00 23 8 25.81 30 0 0.00 11 8 42.11 YTHDF3 0 genome.wustl.edu 37 8 64100288 64100288 + Silent SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 8 64100288 64100288 G A SNP YTHDF3 ENST00000539294 human ensembl 74_37 +1 known silent c.1716 p.E572 1.000 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF3 HGNC ENSG00000185728 tier1 - - 8 0 0.00 22 7 24.14 117 0 0.00 106 26 19.70 WDR7 0 genome.wustl.edu 37 18 54605777 54605777 + Missense_Mutation SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 18 54605777 54605777 C T SNP WDR7 ENST00000254442 human ensembl 74_37 +1 known missense c.3845 p.T1282M 0.951 superfamily_ARM-type_fold pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like_supfam,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR7 HGNC ENSG00000091157 tier1 - - 33 0 0.00 25 8 24.24 80 0 0.00 28 17 37.78 ZNF610 0 genome.wustl.edu 37 19 52869687 52869687 + Silent SNP C C G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 19 52869687 52869687 C G SNP ZNF610 ENST00000321287 human ensembl 74_37 +1 known silent c.1056 p.V352 0.015 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 ZNF610 HGNC ENSG00000167554 tier1 - - 22 0 0.00 28 8 22.22 76 0 0.00 53 15 22.06 MIEF1 0 genome.wustl.edu 37 22 39909888 39909888 + Missense_Mutation SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 22 39909888 39909888 C T SNP MIEF1 ENST00000325301 human ensembl 74_37 +1 known missense c.952 p.L318F 1.000 NULL NULL - no_errors MIEF1 HGNC ENSG00000100335 tier1 - - 59 0 0.00 47 15 24.19 68 0 0.00 37 22 37.29 IQCA1 0 genome.wustl.edu 37 2 237374267 237374267 + Missense_Mutation SNP C C A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 2 237374267 237374267 C A SNP IQCA1 ENST00000409907 human ensembl 74_37 -1 known missense c.807 p.K269N 0.787 NULL pfam_ATPase_AAA_core,superfamily_P-loop_NTPase,pfscan_IQ_motif_EF-hand-BS - no_errors IQCA1 HGNC ENSG00000132321 tier1 - - 42 0 0.00 53 19 26.39 97 0 0.00 74 24 24.49 ZNF519 0 genome.wustl.edu 37 18 14132371 14132371 + R SNP T T A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 18 14132371 14132371 T A SNP ZNF519 ENST00000586507 human ensembl 74_37 -1 known rna NULL NULL 0.003 - - - no_errors ZNF519 HGNC ENSG00000175322 tier1 - - 50 0 0.00 40 19 32.20 43 0 0.00 52 13 20.00 CSMD1 0 genome.wustl.edu 37 8 3266956 3266956 + Missense_Mutation SNP G G T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 8 3266956 3266956 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.1736 p.P579H 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 53 0 0.00 41 13 24.07 79 0 0.00 48 16 24.62 ZNF644 0 genome.wustl.edu 37 1 91404037 91404037 + Missense_Mutation SNP C C A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 1 91404037 91404037 C A SNP ZNF644 ENST00000337393 human ensembl 74_37 -1 known missense c.2874 p.L958F 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF644 HGNC ENSG00000122482 tier1 - - 28 0 0.00 23 6 20.69 83 0 0.00 79 9 10.23 CDK13 0 genome.wustl.edu 37 7 40134028 40134028 + Missense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 7 40134028 40134028 G A SNP CDK13 ENST00000181839 human ensembl 74_37 +1 known missense c.3988 p.V1330M 0.109 NULL 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 CDK13 HGNC ENSG00000065883 tier1 - - 52 0 0.00 36 8 18.18 90 0 0.00 61 14 18.67 COL6A5 0 genome.wustl.edu 37 3 130187932 130187932 + Missense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 3 130187932 130187932 G A SNP COL6A5 ENST00000265379 human ensembl 74_37 +1 known missense c.7084 p.V2362I 0.059 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,smart_VWF_A,pfscan_VWF_A - no_errors COL6A5 HGNC ENSG00000172752 tier1 - - 33 0 0.00 17 19 52.78 104 0 0.00 44 31 41.33 C1QTNF9-AS1 0 genome.wustl.edu 37 13 24889933 24889933 + R SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 13 24889933 24889933 C T SNP C1QTNF9-AS1 ENST00000449656 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors C1QTNF9-AS1 HGNC ENSG00000240868 tier1 - - 11 0 0.00 5 5 50.00 44 0 0.00 29 33 53.23 LOC440905 0 genome.wustl.edu 37 2 130807609 130807609 + R SNP G G T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 2 130807609 130807609 G T SNP LOC440905 ENST00000325390 human ensembl 74_37 -1 known rna NULL NULL 0.026 - - - no_errors AC018865.8 Clone_based_vega_gene ENSG00000180178 tier1 - - 67 0 0.00 47 14 22.95 60 0 0.00 27 8 22.86 DSYN1 0 genome.wustl.edu 37 11 71164372 71164372 + Silent SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 11 71164372 71164372 C T SNP DSYN1 ENST00000319023 human ensembl 74_37 +1 known silent c.30 p.C10 1.000 pfam_C-N_Hydrolase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_D_synthase,pfscan_C-N_Hydrolase pfam_C-N_Hydrolase,pfam_D/GMP_synthase,superfamily_C-N_Hydrolase,pirsf_Gln-dep_D_synthase,pfscan_C-N_Hydrolase,tigrfam_D_synthase - no_errors DSYN1 HGNC ENSG00000172890 tier1 - - 63 0 0.00 80 34 29.57 39 0 0.00 16 17 51.52 OR5AP2 0 genome.wustl.edu 37 11 56409671 56409671 + Missense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 11 56409671 56409671 G A SNP OR5AP2 ENST00000544374 human ensembl 74_37 -1 known missense c.248 p.S83F 0.002 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 OR5AP2 HGNC ENSG00000172464 tier1 - - 28 0 0.00 15 8 34.78 66 0 0.00 33 16 32.65 FCRL1 0 genome.wustl.edu 37 1 157771769 157771769 + Silent SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 1 157771769 157771769 G A SNP FCRL1 ENST00000368176 human ensembl 74_37 -1 known silent c.822 p.Y274 0.626 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCRL1 HGNC ENSG00000163534 tier1 - - 34 0 0.00 32 11 25.58 68 0 0.00 52 24 31.58 POMGNT2 0 genome.wustl.edu 37 3 43121738 43121738 + Missense_Mutation SNP T T C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 3 43121738 43121738 T C SNP POMGNT2 ENST00000344697 human ensembl 74_37 -1 known missense c.1186 p.M396V 0.983 NULL pfam_Glycosyltransferase_AER61,superfamily_Fibronectin_type3 - no_errors POMGNT2 HGNC ENSG00000144647 tier1 - - 35 0 0.00 26 16 38.10 57 0 0.00 46 17 26.98 GPR98 0 genome.wustl.edu 37 5 90052854 90052854 + Missense_Mutation SNP T T A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 5 90052854 90052854 T A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.11816 p.V3939D 0.763 pfam_Calx_beta,smart_Calx_beta pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like - no_errors GPR98 HGNC ENSG00000164199 tier1 - - 34 0 0.00 16 34 68.00 85 0 0.00 24 47 65.28 CD22 0 genome.wustl.edu 37 19 35832259 35832259 + Silent SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 19 35832259 35832259 C T SNP CD22 ENST00000085219 human ensembl 74_37 +1 known silent c.1521 p.D507 0.000 pfscan_Ig-like_dom pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CD22 HGNC ENSG00000012124 tier1 - - 35 0 0.00 27 13 32.50 46 0 0.00 42 18 30.00 CAC2D4 0 genome.wustl.edu 37 12 1988202 1988202 + Nonsense_Mutation SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 12 1988202 1988202 G A SNP CAC2D4 ENST00000382722 human ensembl 74_37 -1 known nonsense c.1564 p.R522* 0.793 pfam_Cache_domain pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A - no_errors CAC2D4 HGNC ENSG00000151062 tier1 - - 20 0 0.00 22 7 24.14 71 0 0.00 49 38 43.68 OTUB1 0 genome.wustl.edu 37 11 63764938 63764938 + Missense_Mutation SNP C C G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 11 63764938 63764938 C G SNP OTUB1 ENST00000422031 human ensembl 74_37 +1 known missense c.847 p.P283A 1.000 pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU pfam_Peptidase_C65_otubain,pfam_OTU,pirsf_Ubiquitin_thioesterase_Otubain,pfscan_OTU - no_errors OTUB1 HGNC ENSG00000167770 tier1 - - 46 0 0.00 33 12 26.67 53 0 0.00 41 15 26.79 YARS2 0 genome.wustl.edu 37 12 32908155 32908155 + Missense_Mutation SNP C C A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 12 32908155 32908155 C A SNP YARS2 ENST00000324868 human ensembl 74_37 -1 known missense c.654 p.E218D 1.000 pfam_aa-tR-synth_Ic,prints_Tyr-tR-ligase,tigrfam_Tyr-tR-ligase pfam_aa-tR-synth_Ic,prints_Tyr-tR-ligase,tigrfam_Tyr-tR-ligase - no_errors YARS2 HGNC ENSG00000139131 tier1 - - 51 0 0.00 43 12 21.82 49 0 0.00 51 14 21.21 OR4D5 0 genome.wustl.edu 37 11 123810923 123810923 + Silent SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 11 123810923 123810923 G A SNP OR4D5 ENST00000307033 human ensembl 74_37 +1 known silent c.600 p.V200 0.346 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4D5 HGNC ENSG00000171014 tier1 - - 54 0 0.00 32 12 27.27 131 0 0.00 100 25 20.00 SLMO1 0 genome.wustl.edu 37 18 12427223 12427223 + Silent SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 18 12427223 12427223 C T SNP SLMO1 ENST00000336990 human ensembl 74_37 +1 known silent c.366 p.T122 0.027 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 pfam_PRELI/MSF1,pfscan_PRELI/MSF1 - no_errors SLMO1 HGNC ENSG00000141391 tier1 - - 92 0 0.00 46 58 55.77 65 0 0.00 27 38 58.46 SYCP1 0 genome.wustl.edu 37 1 115419372 115419372 + Nonsense_Mutation SNP G G T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 1 115419372 115419372 G T SNP SYCP1 ENST00000369518 human ensembl 74_37 +1 known nonsense c.742 p.E248* 1.000 pfam_SCP-1 pfam_SCP-1 - no_errors SYCP1 HGNC ENSG00000198765 tier1 - - 50 0 0.00 60 12 16.67 80 0 0.00 72 13 15.29 SMC2 0 genome.wustl.edu 37 9 106888987 106888987 + Silent SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 9 106888987 106888987 G A SNP SMC2 ENST00000286398 human ensembl 74_37 +1 known silent c.2517 p.Q839 1.000 superfamily_P-loop_NTPase pfam_RecF/RecN/SMC_N,pfam_SMC_hinge,superfamily_P-loop_NTPase,superfamily_SMC_hinge,smart_SMC_hinge - no_errors SMC2 HGNC ENSG00000136824 tier1 - - 43 0 0.00 31 14 31.11 63 0 0.00 48 24 33.33 PCDHB8 0 genome.wustl.edu 37 5 140559085 140559085 + Silent SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 5 140559085 140559085 G A SNP PCDHB8 ENST00000239444 human ensembl 74_37 +1 known silent c.1470 p.S490 0.988 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB8 HGNC ENSG00000120322 tier1 - - 454 0 0.00 332 55 14.21 28 0 0.00 14 2 12.50 ALOX12 0 genome.wustl.edu 37 17 6913105 6913105 + Missense_Mutation SNP A A G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 17 6913105 6913105 A G SNP ALOX12 ENST00000251535 human ensembl 74_37 +1 known missense c.1580 p.H527R 0.983 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_mml,prints_LipOase_C - no_errors ALOX12 HGNC ENSG00000108839 tier1 - - 53 0 0.00 56 32 36.36 51 0 0.00 31 25 44.64 DIAPH1 0 genome.wustl.edu 37 5 140896391 140896391 + R SNP G G A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 5 140896391 140896391 G A SNP DIAPH1 ENST00000468119 human ensembl 74_37 -1 putative rna NULL NULL 0.005 - - - no_errors DIAPH1 HGNC ENSG00000131504 tier1 - - 65 0 0.00 27 16 37.21 39 0 0.00 25 18 41.86 C17orf76-AS1 0 genome.wustl.edu 37 17 16342924 16342925 + R DEL GT GT - TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 GT GT GT - GT GT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 17 16342924 16342925 GT - DEL C17orf76-AS1 ENST00000460249 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000 - - - no_errors C17orf76-AS1 HGNC ENSG00000175061 tier1 52 0 0.00 51 28 35.44 101 0 0.00 98 44 30.99 ANKRD20A19P 0 genome.wustl.edu 37 13 24519966 24519966 + R SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 13 24519966 24519966 C T SNP ANKRD20A19P ENST00000420143 human ensembl 74_37 -1 known rna NULL NULL 0.092 - - - no_errors ANKRD20A19P HGNC ENSG00000196593 tier1 - - 120 0 0.00 52 44 45.83 24 0 0.00 5 9 64.29 MBL1P 0 genome.wustl.edu 37 10 81664709 81664709 + R SNP T T G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 10 81664709 81664709 T G SNP MBL1P ENST00000453174 human ensembl 74_37 +1 known rna NULL NULL 0.047 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 39 0 0.00 8 14 63.64 25 0 0.00 5 9 64.29 RB1 0 genome.wustl.edu 37 13 48953730 48953730 + Nonsense_Mutation SNP C C T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 13 48953730 48953730 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1333 p.R445* 1.000 pfam_RB_A,superfamily_Cyclin-like pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 rs3092891 - 52 0 0.00 12 38 76.00 54 0 0.00 5 18 78.26 PRR5L 0 genome.wustl.edu 37 11 36485195 36485195 + R DEL A A - TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 11 36485195 36485195 A - DEL PRR5L ENST00000389693 human ensembl 74_37 +1 known rna NULL NULL 0.022 - - - no_errors PRR5L HGNC ENSG00000135362 tier1 16 0 0.00 9 3 25.00 56 1 1.75 45 4 8.16 AAMDC 0 genome.wustl.edu 37 11 77629129 77629129 + Missense_Mutation SNP T T C TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 11 77629129 77629129 T C SNP AAMDC ENST00000532481 human ensembl 74_37 +1 putative missense c.251 p.L84S 0.002 NULL pfam_DH_Ub_cplx-1_asu_assmbl-fac3,superfamily_DH_Ub_cplx-1_asu_assmbl-fac3 - no_errors AAMDC HGNC ENSG00000087884 tier1 - - 79 0 0.00 89 20 18.35 8 0 0.00 6 1 14.29 ENSG00000235852 0 genome.wustl.edu 37 2 191745647 191745647 + R SNP C C G TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 2 191745647 191745647 C G SNP ENSG00000235852 ENST00000413911 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors AC005540.3 Clone_based_vega_gene ENSG00000235852 tier1 - - 8 0 0.00 8 4 30.77 5 0 0.00 9 0 0.00 MT-CO2 0 genome.wustl.edu 37 MT 8156 8156 + Missense_Mutation SNP G G T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 MT 8156 8156 G T SNP MT-CO2 ENST00000361739 human ensembl 74_37 +1 known missense c.571 p.V191L NULL pfam_Cyt_c_oxidase_su2_C,superfamily_Cupredoxin,pfscan_Cyt_c_oxidase_su2_C,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 - - 71 0 0.00 8 2 20.00 6 0 0.00 1 0 0.00 ENSG00000236911 0 genome.wustl.edu 37 1 207726288 207726289 + R INS - - T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 1 207726288 207726289 - T INS ENSG00000236911 ENST00000439443 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors RP11-78B10.2 Clone_based_vega_gene ENSG00000236911 tier1 11 0 0.00 10 4 28.57 4 0 0.00 5 0 0.00 LOC441666 0 genome.wustl.edu 37 10 42832502 42832503 + R INS - - TATCA TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 10 42832502 42832503 - TATCA INS LOC441666 ENST00000609841 human ensembl 74_37 -1 known rna NULL NULL 0.995:0.996 - - - no_errors RP11-313J2.1 Clone_based_vega_gene ENSG00000215146 tier1 1 0 0.00 0 0 0.00 1 0 0.00 0 0 0.00 MT-RNR1 0 genome.wustl.edu 37 MT 932 932 + R SNP C C A TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 MT 932 932 C A SNP MT-RNR1 ENST00000389680 human ensembl 74_37 +1 known rna NULL NULL NULL - - - no_errors MT-RNR1 HGNC ENSG00000211459 tier1 - - 104 0 0.00 17 2 10.53 2 0 0.00 0 0 0.00 PSD2 0 genome.wustl.edu 37 5 139216824 139216824 + Splice_Site SNP G G T TCGA-IF-A4AJ-01A-11D-A24N-09 TCGA-IF-A4AJ-11A-12D-A24N-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq d53c2680-89ac-4f87-a7ba-f4c669546b76 e8f6f409-7ff3-4eda-ad53-419f91052d25 5 139216824 139216824 G T SNP PSD2 ENST00000274710 human ensembl 74_37 +1 known splice_site c.1665+1 e10+1 1.000 - - - no_errors PSD2 HGNC ENSG00000146005 tier1 - - 49 0 0.00 41 4 8.89 82 0 0.00 47 2 4.08