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 ELAVL3 0 genome.wustl.edu 37 19 11591449 11591449 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 11591449 11591449 C T SNP ELAVL3 ENST00000592218 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ELAVL3 HGNC ENSG00000196361 tier1 - - 137 0 0.00 62 31 33.33 32 0 0.00 24 10 29.41 NUP210L 0 genome.wustl.edu 37 1 154042843 154042843 + Missense_Mutation SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 154042843 154042843 C G SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.2460 p.W820C 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 43 0 0.00 32 14 30.43 147 0 0.00 144 32 18.18 ANK2 0 genome.wustl.edu 37 4 114275648 114275648 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 114275648 114275648 G A SNP ANK2 ENST00000357077 human ensembl 74_37 +1 known silent c.5874 p.E1958 0.161 NULL pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt - no_errors ANK2 HGNC ENSG00000145362 tier1 - - 76 0 0.00 44 12 21.43 156 0 0.00 118 23 16.08 CSMD3 0 genome.wustl.edu 37 8 113267508 113267508 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 113267508 113267508 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known nonsense c.10011 p.W3337* 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 CSMD3 HGNC ENSG00000164796 tier1 - - 75 0 0.00 40 15 27.27 72 0 0.00 62 24 27.59 PIM2 0 genome.wustl.edu 37 X 48771446 48771446 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 48771446 48771446 C T SNP PIM2 ENST00000376509 human ensembl 74_37 -1 known missense c.898 p.G300R 0.066 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM2 HGNC ENSG00000102096 tier1 - - 93 0 0.00 24 33 57.89 46 0 0.00 29 20 40.82 ALOX12P2 0 genome.wustl.edu 37 17 6799663 6799663 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 6799663 6799663 C T SNP ALOX12P2 ENST00000570890 human ensembl 74_37 +1 known rna NULL NULL 0.924 - - - no_errors ALOX12P2 HGNC ENSG00000262943 tier1 - - 83 0 0.00 44 7 13.73 122 0 0.00 92 18 16.36 ENSG00000249509 0 genome.wustl.edu 37 4 113451656 113451656 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 113451656 113451656 G A SNP ENSG00000249509 ENST00000504009 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-402J6.1 Clone_based_vega_gene ENSG00000249509 tier1 - - 47 0 0.00 20 4 16.67 21 0 0.00 33 6 15.38 LOC339524 0 genome.wustl.edu 37 1 87599167 87599167 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 87599167 87599167 C T SNP LOC339524 ENST00000467438 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors RP5-1052I5.1 Clone_based_vega_gene ENSG00000267272 tier1 - - 63 0 0.00 33 7 17.50 107 0 0.00 117 19 13.97 ESPL1 0 genome.wustl.edu 37 12 53680601 53680601 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 53680601 53680601 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known missense c.4081 p.P1361S 0.948 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 50 0 0.00 46 5 9.80 114 0 0.00 79 15 15.96 LINGO1 0 genome.wustl.edu 37 15 77907556 77907556 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 77907556 77907556 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known silent c.693 p.R231 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 29 0 0.00 27 9 25.00 100 0 0.00 79 22 21.57 NUP210L 0 genome.wustl.edu 37 1 154042818 154042818 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 154042818 154042818 G A SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known missense c.2485 p.H829Y 0.933 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 47 0 0.00 41 17 29.31 147 0 0.00 134 33 19.76 ZSCAN30 0 genome.wustl.edu 37 18 32843492 32843492 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 32843492 32843492 C T SNP ZSCAN30 ENST00000333206 human ensembl 74_37 -1 known missense c.538 p.A180T 0.078 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 ZSCAN30 HGNC ENSG00000186814 tier1 - - 59 0 0.00 42 11 20.75 130 0 0.00 89 31 25.83 CNGA4 0 genome.wustl.edu 37 11 6265537 6265537 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 6265537 6265537 C T SNP CNGA4 ENST00000379936 human ensembl 74_37 +1 known silent c.1626 p.P542 0.065 NULL pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom - no_errors CNGA4 HGNC ENSG00000132259 tier1 - - 59 0 0.00 37 6 13.95 79 0 0.00 53 13 19.70 LMO7 0 genome.wustl.edu 37 13 76374986 76374986 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 76374986 76374986 C T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known missense c.785 p.S262F 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 71 0 0.00 37 11 22.92 83 0 0.00 59 11 15.28 MOXD1 0 genome.wustl.edu 37 6 132619016 132619016 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 132619016 132619016 C T SNP MOXD1 ENST00000367963 human ensembl 74_37 -1 known nonsense c.1587 p.W529* 1.000 NULL pfam_Cu2_ascorb_mOase_N,pfam_DOMON_domain,superfamily_PHM/PNGase_F_dom,smart_DOMON_domain,pfscan_DOMON_domain,prints_Dopamine_b_mOase - no_errors MOXD1 HGNC ENSG00000079931 tier1 rs140134245 GMAF=0.0005 83 0 0.00 48 9 15.79 113 0 0.00 105 15 12.50 OR2M2 0 genome.wustl.edu 37 1 248343813 248343813 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 248343813 248343813 C T SNP OR2M2 ENST00000359682 human ensembl 74_37 +1 known missense c.526 p.H176Y 0.985 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2M2 HGNC ENSG00000198601 tier1 - - 110 0 0.00 55 16 22.54 48 0 0.00 40 7 14.89 TECTA 0 genome.wustl.edu 37 11 121016456 121016456 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 121016456 121016456 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3736 p.G1246S 0.996 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 rs200218954 GMAF=0.0005 48 0 0.00 32 5 13.51 70 0 0.00 55 14 20.29 PMS1 0 genome.wustl.edu 37 2 190720629 190720629 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 190720629 190720629 C T SNP PMS1 ENST00000421722 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PMS1 HGNC ENSG00000064933 tier1 - - 104 0 0.00 60 12 16.67 90 0 0.00 68 19 21.59 PER3 0 genome.wustl.edu 37 1 7886594 7886594 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 7886594 7886594 C T SNP PER3 ENST00000361923 human ensembl 74_37 +1 known missense c.1988 p.P663L 0.001 NULL pfam_Period_circadian-like_C,pfam_PAS_fold_3,pfam_PAS_fold,superfamily_PAS,smart_PAS,pfscan_PAS - no_errors PER3 HGNC ENSG00000049246 tier1 - - 74 0 0.00 51 11 17.74 90 0 0.00 86 21 19.63 OR4C13 0 genome.wustl.edu 37 11 49974639 49974639 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 49974639 49974639 C T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known missense c.665 p.S222F 0.096 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 tier1 - - 71 0 0.00 56 9 13.85 43 0 0.00 33 5 13.16 FEZF1 0 genome.wustl.edu 37 7 121943276 121943276 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 121943276 121943276 G A SNP FEZF1 ENST00000442488 human ensembl 74_37 -1 known silent c.891 p.F297 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors FEZF1 HGNC ENSG00000128610 tier1 - - 103 0 0.00 36 7 16.28 121 0 0.00 99 38 27.54 PSG11 0 genome.wustl.edu 37 19 43519381 43519381 + Missense_Mutation SNP T T C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 43519381 43519381 T C SNP PSG11 ENST00000320078 human ensembl 74_37 -1 known missense c.851 p.Q284R 0.001 pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG11 HGNC ENSG00000243130 tier1 - - 238 0 0.00 153 38 19.90 39 0 0.00 24 6 20.00 ZNF709 0 genome.wustl.edu 37 19 12575312 12575312 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 12575312 12575312 G A SNP ZNF709 ENST00000397732 human ensembl 74_37 -1 known missense c.1424 p.P475L 0.967 pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,pfam_Znf_C2H2_jaz,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF709 HGNC ENSG00000242852 tier1 - - 133 0 0.00 66 27 29.03 24 0 0.00 32 6 15.79 RYR2 0 genome.wustl.edu 37 1 237730046 237730046 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 237730046 237730046 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3388 p.E1130K 1.000 pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 55 0 0.00 36 12 25.00 111 1 0.89 95 16 14.41 ZNF385B 0 genome.wustl.edu 37 2 180307985 180307985 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 180307985 180307985 G A SNP ZNF385B ENST00000410066 human ensembl 74_37 -1 known missense c.1408 p.P470S 1.000 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385B HGNC ENSG00000144331 tier1 - - 161 0 0.00 79 15 15.96 84 0 0.00 69 15 17.86 SLFN13 0 genome.wustl.edu 37 17 33772392 33772392 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 33772392 33772392 C T SNP SLFN13 ENST00000285013 human ensembl 74_37 -1 known missense c.308 p.R103K 0.000 NULL pfam_ATPase_AAA-4,pfam_DUF2075,superfamily_P-loop_NTPase - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 45 0 0.00 26 6 18.75 98 0 0.00 112 19 14.29 ZNF324B 0 genome.wustl.edu 37 19 58966803 58966803 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 58966803 58966803 C T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known silent c.492 p.S164 0.000 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 tier1 - - 60 0 0.00 29 12 29.27 29 0 0.00 30 4 11.76 FRAS1 0 genome.wustl.edu 37 4 79366787 79366787 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 79366787 79366787 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.5777 p.P1926L 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 - - 67 0 0.00 44 12 21.43 110 0 0.00 105 21 16.67 SPG11 0 genome.wustl.edu 37 15 44925817 44925817 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 44925817 44925817 G A SNP SPG11 ENST00000261866 human ensembl 74_37 -1 known nonsense c.1621 p.Q541* 1.000 NULL NULL - no_errors SPG11 HGNC ENSG00000104133 tier1 - - 126 0 0.00 71 7 8.97 113 0 0.00 91 24 20.87 DACT1 0 genome.wustl.edu 37 14 59113171 59113171 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 59113171 59113171 G A SNP DACT1 ENST00000335867 human ensembl 74_37 +1 known silent c.1830 p.K610 1.000 NULL NULL - no_errors DACT1 HGNC ENSG00000165617 tier1 - - 65 0 0.00 39 13 25.00 72 1 1.37 78 10 11.36 AP3B2 0 genome.wustl.edu 37 15 83334005 83334005 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 83334005 83334005 G A SNP AP3B2 ENST00000535359 human ensembl 74_37 -1 novel silent c.2022 p.Y674 0.846 pirsf_AP3_beta pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta - no_errors AP3B2 HGNC ENSG00000103723 tier1 - - 42 0 0.00 29 6 17.14 85 0 0.00 74 34 31.19 ABCA4 0 genome.wustl.edu 37 1 94463579 94463579 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 94463579 94463579 G A SNP ABCA4 ENST00000370225 human ensembl 74_37 -1 known silent c.6567 p.F2189 1.000 tigrfam_Rim_ABC_transpt pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,tigrfam_Rim_ABC_transpt - no_errors ABCA4 HGNC ENSG00000198691 tier1 - - 75 0 0.00 47 23 32.86 103 0 0.00 93 20 17.70 IFT172 0 genome.wustl.edu 37 2 27682296 27682296 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 27682296 27682296 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known silent c.2736 p.S912 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 39 0 0.00 20 4 16.67 117 0 0.00 68 8 10.26 TMEM251 0 genome.wustl.edu 37 14 93652900 93652900 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 93652900 93652900 C T SNP TMEM251 ENST00000415050 human ensembl 74_37 +1 known missense c.394 p.P132S 1.000 NULL NULL - no_errors TMEM251 HGNC ENSG00000153485 tier1 - - 64 0 0.00 36 7 16.28 54 0 0.00 48 7 12.73 PPP1R16A 0 genome.wustl.edu 37 8 145726915 145726915 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 145726915 145726915 G A SNP PPP1R16A ENST00000292539 human ensembl 74_37 +1 known missense c.1216 p.E406K 0.033 pirsf_Pase-1_reg_su_16AB_euk pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors PPP1R16A HGNC ENSG00000160972 tier1 - - 90 0 0.00 47 11 18.97 38 0 0.00 29 11 27.50 HDC 0 genome.wustl.edu 37 15 50540514 50540514 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 50540514 50540514 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known silent c.1068 p.R356 0.956 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 tier1 - - 66 0 0.00 30 5 14.29 133 0 0.00 99 28 22.05 SIRPB1 0 genome.wustl.edu 37 20 1600523 1600523 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 1600523 1600523 C T SNP SIRPB1 ENST00000279477 human ensembl 74_37 -1 known missense c.68 p.R23K 0.008 pfscan_Ig-like_dom pfam_Ig_C1-set,pfam_CD80_C2-set,pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors SIRPB1 HGNC ENSG00000101307 tier1 - - 89 0 0.00 38 13 25.49 64 0 0.00 71 18 20.22 CTN1 0 genome.wustl.edu 37 5 138268381 138268381 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 138268381 138268381 G A SNP CTN1 ENST00000302763 human ensembl 74_37 +1 known missense c.2413 p.G805R 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN1 HGNC ENSG00000044115 tier1 - - 51 0 0.00 25 10 27.78 48 0 0.00 41 14 25.45 ZMYND12 0 genome.wustl.edu 37 1 42898702 42898702 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 42898702 42898702 G A SNP ZMYND12 ENST00000475426 human ensembl 74_37 -1 known rna NULL NULL 0.005 - - - no_errors ZMYND12 HGNC ENSG00000066185 tier1 - - 56 0 0.00 21 7 25.00 141 1 0.70 108 31 22.30 ATP8B4 0 genome.wustl.edu 37 15 50215659 50215659 + Missense_Mutation SNP A A C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 50215659 50215659 A C SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1675 p.S559A 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 tier1 - - 81 0 0.00 46 13 21.67 134 0 0.00 104 23 17.97 ELAVL3 0 genome.wustl.edu 37 19 11591448 11591448 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 11591448 11591448 C T SNP ELAVL3 ENST00000592218 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors ELAVL3 HGNC ENSG00000196361 tier1 - - 140 0 0.00 63 31 32.98 32 0 0.00 24 10 29.41 RYR2 0 genome.wustl.edu 37 1 237754099 237754099 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 237754099 237754099 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known missense c.3961 p.P1321S 0.453 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 45 0 0.00 26 11 29.73 45 0 0.00 50 9 15.25 HCN4 0 genome.wustl.edu 37 15 73617297 73617297 + Silent SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 73617297 73617297 T G SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known silent c.1977 p.G659 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 36 0 0.00 22 8 26.67 16 0 0.00 20 13 39.39 IFT172 0 genome.wustl.edu 37 2 27682297 27682297 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 27682297 27682297 G A SNP IFT172 ENST00000260570 human ensembl 74_37 -1 known missense c.2735 p.S912F 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat - no_errors IFT172 HGNC ENSG00000138002 tier1 - - 39 0 0.00 20 4 16.67 117 0 0.00 70 8 10.26 TMPRSS6 0 genome.wustl.edu 37 22 37480403 37480403 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 22 37480403 37480403 G A SNP TMPRSS6 ENST00000381792 human ensembl 74_37 -1 known silent c.1128 p.A376 1.000 pirsf_Pept_S1A_matriptase-2,superfamily_CUB_dom,pfscan_CUB_dom pirsf_Pept_S1A_matriptase-2,pfam_Peptidase_S1,pfam_LDrepeatLR_classA_rpt,pfam_SEA_dom,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,superfamily_CUB_dom,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Peptidase_S1,prints_Peptidase_S1A,prints_LDrepeatLR_classA_rpt,pfscan_CUB_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_Peptidase_S1 - no_errors TMPRSS6 HGNC ENSG00000187045 tier1 - - 43 0 0.00 19 5 20.83 114 1 0.85 66 23 25.84 TMEM63A 0 genome.wustl.edu 37 1 226049966 226049966 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 226049966 226049966 G A SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known missense c.1037 p.P346L 1.000 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 tier1 - - 67 0 0.00 48 12 20.00 109 1 0.91 113 24 17.52 LOC100996721 0 genome.wustl.edu 37 1 149676402 149676402 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 149676402 149676402 G A SNP LOC100996721 ENST00000369173 human ensembl 74_37 +1 novel silent c.333 p.Q111 0.105 NULL NULL - no_errors AL358813.2 Clone_based_ensembl_gene ENSG00000203815 tier1 - - 264 0 0.00 152 24 13.56 17 0 0.00 26 4 13.33 EPB41L4A 0 genome.wustl.edu 37 5 111643171 111643171 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 111643171 111643171 G A SNP EPB41L4A ENST00000261486 human ensembl 74_37 -1 known missense c.116 p.S39F 0.917 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin_like pfam_FERM_central,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam,prints_Ez/rad/moesin_like - no_errors EPB41L4A HGNC ENSG00000129595 tier1 - - 58 0 0.00 26 8 23.53 139 0 0.00 104 19 15.45 RABL2A 0 genome.wustl.edu 37 2 114398551 114398551 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 114398551 114398551 C T SNP RABL2A ENST00000393166 human ensembl 74_37 +1 known silent c.378 p.I126 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RABL2A HGNC ENSG00000144134 tier1 - - 67 0 0.00 23 11 32.35 69 0 0.00 72 20 21.74 EFEMP1 0 genome.wustl.edu 37 2 56094300 56094300 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 56094300 56094300 C T SNP EFEMP1 ENST00000355426 human ensembl 74_37 -1 known missense c.1390 p.D464N 1.000 NULL pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors EFEMP1 HGNC ENSG00000115380 tier1 - - 69 0 0.00 39 9 18.75 84 0 0.00 72 8 10.00 SNX7 0 genome.wustl.edu 37 1 99157162 99157162 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 99157162 99157162 G A SNP SNX7 ENST00000306121 human ensembl 74_37 +1 known silent c.546 p.R182 0.998 pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors SNX7 HGNC ENSG00000162627 tier1 - - 127 0 0.00 75 20 21.05 111 0 0.00 117 28 19.31 ATP8B4 0 genome.wustl.edu 37 15 50215658 50215658 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 50215658 50215658 G A SNP ATP8B4 ENST00000284509 human ensembl 74_37 -1 known missense c.1676 p.S559F 1.000 superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP8B4 HGNC ENSG00000104043 tier1 - - 79 0 0.00 46 13 22.03 134 0 0.00 105 23 17.97 ASXL3 0 genome.wustl.edu 37 18 31251776 31251776 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 31251776 31251776 C T SNP ASXL3 ENST00000269197 human ensembl 74_37 +1 known missense c.661 p.P221S 1.000 NULL superfamily_Znf_FYVE_PHD - no_errors ASXL3 HGNC ENSG00000141431 tier1 - - 102 0 0.00 52 16 23.53 174 0 0.00 165 39 19.12 TLN2 0 genome.wustl.edu 37 15 62945393 62945393 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 62945393 62945393 C T SNP TLN2 ENST00000306829 human ensembl 74_37 +1 known nonsense c.397 p.Q133* 1.000 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_Talin_cent,pfam_ILWEQ_dom,pfam_Vinculin-bd_dom,pfam_FERM_N,pfam_FERM_central,pfam_Insln_rcpt_S1,superfamily_Talin_cent,superfamily_Vinculin/catenin,superfamily_FERM_central,smart_Band_41_domain,smart_ILWEQ_dom,pfscan_FERM_domain,pfscan_ILWEQ_dom - no_errors TLN2 HGNC ENSG00000171914 tier1 - - 51 0 0.00 32 7 17.95 110 0 0.00 85 12 12.37 TLR2 0 genome.wustl.edu 37 4 154624495 154624495 + Missense_Mutation SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 154624495 154624495 T G SNP TLR2 ENST00000260010 human ensembl 74_37 +1 known missense c.436 p.S146A 0.987 pirsf_Toll-like_receptor pirsf_Toll-like_receptor,pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR2 HGNC ENSG00000137462 tier1 - - 31 0 0.00 14 8 36.36 149 0 0.00 125 37 22.84 HEBP2 0 genome.wustl.edu 37 6 138727221 138727221 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 138727221 138727221 G A SNP HEBP2 ENST00000607197 human ensembl 74_37 +1 known missense c.352 p.D118N 0.985 pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom pfam_SOUL_haem-bd,superfamily_Reg_factor_effector_dom - no_errors HEBP2 HGNC ENSG00000051620 tier1 - - 87 0 0.00 54 10 15.62 106 0 0.00 119 16 11.85 C1orf173 0 genome.wustl.edu 37 1 75038368 75038368 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 75038368 75038368 G A SNP C1orf173 ENST00000326665 human ensembl 74_37 -1 known missense c.3026 p.S1009L 0.000 NULL NULL - no_errors C1orf173 HGNC ENSG00000178965 tier1 - - 27 0 0.00 16 4 20.00 71 0 0.00 54 12 18.18 ENSG00000266817 0 genome.wustl.edu 37 2 190176485 190176485 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 190176485 190176485 C T SNP ENSG00000266817 ENST00000579501 human ensembl 74_37 -1 novel rna NULL NULL 0.997 - - - no_errors AC118063.1 Clone_based_ensembl_gene ENSG00000266817 tier1 - - 33 0 0.00 30 4 11.76 29 0 0.00 27 4 12.90 ABCB4 0 genome.wustl.edu 37 7 87046812 87046812 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 87046812 87046812 G A SNP ABCB4 ENST00000265723 human ensembl 74_37 -1 known missense c.2498 p.A833V 1.000 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,pfam_Zeta_toxin_domain,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCB4 HGNC ENSG00000005471 tier1 - - 65 0 0.00 51 11 17.74 149 0 0.00 135 38 21.84 KIAA1407 0 genome.wustl.edu 37 3 113755593 113755593 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 113755593 113755593 G A SNP KIAA1407 ENST00000295878 human ensembl 74_37 -1 known silent c.456 p.T152 0.763 NULL NULL - no_errors KIAA1407 HGNC ENSG00000163617 tier1 - - 74 0 0.00 42 12 22.22 134 0 0.00 105 23 17.69 ZMYND12 0 genome.wustl.edu 37 1 42898703 42898703 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 42898703 42898703 G A SNP ZMYND12 ENST00000475426 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors ZMYND12 HGNC ENSG00000066185 tier1 - - 56 0 0.00 21 7 25.00 141 0 0.00 106 32 23.02 C4orf21 0 genome.wustl.edu 37 4 113460790 113460790 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 113460790 113460790 G A SNP C4orf21 ENST00000505019 human ensembl 74_37 -1 known silent c.6228 p.L2076 0.325 NULL pfam_DUF2439,pfam_Znf_GRF,superfamily_P-loop_NTPase - no_errors C4orf21 HGNC ENSG00000138658 tier1 - - 66 0 0.00 33 8 19.51 68 0 0.00 53 15 22.06 BTBD8 0 genome.wustl.edu 37 1 92554331 92554331 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 92554331 92554331 C T SNP BTBD8 ENST00000342818 human ensembl 74_37 +1 known missense c.226 p.L76F 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 tier1 - - 114 0 0.00 84 15 15.15 163 0 0.00 108 20 15.50 RIPK1 0 genome.wustl.edu 37 6 3089836 3089836 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 3089836 3089836 C T SNP RIPK1 ENST00000259808 human ensembl 74_37 +1 known missense c.860 p.P287L 1.000 superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Death_domain,superfamily_Kinase-like_dom,superfamily_DEATH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Death_domain,pfscan_Death_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors RIPK1 HGNC ENSG00000137275 tier1 - - 152 0 0.00 79 21 21.00 107 0 0.00 50 8 13.79 WNT7B 0 genome.wustl.edu 37 22 46345806 46345806 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 22 46345806 46345806 G A SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known nonsense c.292 p.R98* 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 tier1 - - 47 0 0.00 13 5 26.32 13 0 0.00 17 2 10.53 LAMA1 0 genome.wustl.edu 37 18 6958555 6958555 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 6958555 6958555 G A SNP LAMA1 ENST00000389658 human ensembl 74_37 -1 known missense c.7885 p.P2629S 0.957 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_B_type_IV,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N - no_errors LAMA1 HGNC ENSG00000101680 tier1 - - 52 0 0.00 40 10 20.00 155 0 0.00 101 26 20.47 PPP2R5C 0 genome.wustl.edu 37 14 102359442 102359442 + Silent SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 102359442 102359442 C G SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known silent c.888 p.P296 0.210 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 tier1 - - 55 0 0.00 36 8 18.18 83 0 0.00 75 22 22.68 APMAP 0 genome.wustl.edu 37 20 24952105 24952105 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 24952105 24952105 G A SNP APMAP ENST00000217456 human ensembl 74_37 -1 known missense c.529 p.P177S 0.998 pfam_SGL pfam_Strictosidine_synth_cons-reg,pfam_SGL - no_errors APMAP HGNC ENSG00000101474 tier1 - - 73 0 0.00 42 6 12.50 111 0 0.00 77 19 19.79 RABL2A 0 genome.wustl.edu 37 2 114398552 114398552 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 114398552 114398552 C T SNP RABL2A ENST00000393166 human ensembl 74_37 +1 known missense c.379 p.P127S 1.000 pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors RABL2A HGNC ENSG00000144134 tier1 - - 67 0 0.00 23 11 32.35 70 0 0.00 70 20 21.98 SLA 0 genome.wustl.edu 37 8 134060111 134060111 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 134060111 134060111 C T SNP SLA ENST00000427060 human ensembl 74_37 -1 known missense c.436 p.G146S 1.000 pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2 pfam_SH2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,pfscan_SH2,pfscan_SH3_domain,prints_SH2 - no_errors SLA HGNC ENSG00000155926 tier1 - - 50 0 0.00 26 4 13.33 60 0 0.00 33 13 28.26 PAOX 0 genome.wustl.edu 37 10 135197627 135197627 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 135197627 135197627 G A SNP PAOX ENST00000278060 human ensembl 74_37 +1 known silent c.1032 p.E344 0.998 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 tier1 - - 54 0 0.00 26 8 23.53 58 0 0.00 28 5 15.15 OR5M1 0 genome.wustl.edu 37 11 56380933 56380933 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 56380933 56380933 C T SNP OR5M1 ENST00000526538 human ensembl 74_37 -1 known missense c.46 p.G16R 0.996 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR5M1 HGNC ENSG00000255012 tier1 - - 113 0 0.00 48 13 21.31 47 0 0.00 60 10 14.29 ABCA9 0 genome.wustl.edu 37 17 66979869 66979869 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 66979869 66979869 G A SNP ABCA9 ENST00000340001 human ensembl 74_37 -1 known nonsense c.4621 p.Q1541* 0.372 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA9 HGNC ENSG00000154258 tier1 - - 65 0 0.00 36 15 29.41 75 0 0.00 62 11 15.07 GPR119 0 genome.wustl.edu 37 X 129518774 129518774 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 129518774 129518774 C T SNP GPR119 ENST00000276218 human ensembl 74_37 -1 known silent c.648 p.R216 0.011 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_GPCR_Rhodpsn - no_errors GPR119 HGNC ENSG00000147262 tier1 - - 15 0 0.00 9 10 52.63 59 0 0.00 35 27 43.55 SHANK2 0 genome.wustl.edu 37 11 70319210 70319210 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 70319210 70319210 G A SNP SHANK2 ENST00000338508 human ensembl 74_37 -1 known missense c.5317 p.P1773S 1.000 NULL pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain - no_errors SHANK2 HGNC ENSG00000162105 tier1 - - 85 0 0.00 40 10 20.00 99 0 0.00 93 29 23.77 COL9A3 0 genome.wustl.edu 37 20 61467647 61467647 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 61467647 61467647 C T SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known missense c.1510 p.P504S 0.684 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 67 0 0.00 28 13 31.71 82 0 0.00 70 17 19.54 CUBN 0 genome.wustl.edu 37 10 17165618 17165618 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 17165618 17165618 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.458 p.S153F 0.979 pfam_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 34 0 0.00 13 11 45.83 54 1 1.82 30 9 23.08 CHRND 0 genome.wustl.edu 37 2 233399031 233399031 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 233399031 233399031 G A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known silent c.1350 p.R450 0.008 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 38 0 0.00 31 5 13.89 172 0 0.00 150 26 14.77 COLGALT2 0 genome.wustl.edu 37 1 183914594 183914594 + Missense_Mutation SNP A A C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 183914594 183914594 A C SNP COLGALT2 ENST00000361927 human ensembl 74_37 -1 known missense c.1241 p.F414C 1.000 pfam_Glyco_trans_25 pfam_Glyco_trans_25 - no_errors COLGALT2 HGNC ENSG00000198756 tier1 - - 66 0 0.00 39 12 23.53 89 0 0.00 66 23 25.84 KMT2E 0 genome.wustl.edu 37 7 104714103 104714103 + Silent SNP C C A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 104714103 104714103 C A SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known silent c.535 p.R179 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 200 0 0.00 88 28 24.14 160 0 0.00 91 36 28.35 TYRO3 0 genome.wustl.edu 37 15 41854857 41854857 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 41854857 41854857 G A SNP TYRO3 ENST00000263798 human ensembl 74_37 +1 known nonsense c.521 p.W174* 1.000 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TYRO3 HGNC ENSG00000092445 tier1 - - 102 0 0.00 70 22 23.91 133 0 0.00 120 32 20.92 CUBN 0 genome.wustl.edu 37 10 16957152 16957152 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 16957152 16957152 G A SNP CUBN ENST00000377833 human ensembl 74_37 -1 known silent c.7230 p.Y2410 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 - - 92 0 0.00 40 20 33.33 53 0 0.00 50 17 25.37 ZNF431 0 genome.wustl.edu 37 19 21326387 21326387 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 21326387 21326387 G A SNP ZNF431 ENST00000311048 human ensembl 74_37 +1 known missense c.37 p.E13K 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF431 HGNC ENSG00000196705 tier1 - - 107 0 0.00 51 9 15.00 22 0 0.00 17 7 29.17 GJB2 0 genome.wustl.edu 37 13 20763343 20763343 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 20763343 20763343 G A SNP GJB2 ENST00000382844 human ensembl 74_37 -1 known silent c.378 p.V126 0.979 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin26 - no_errors GJB2 HGNC ENSG00000165474 tier1 - - 32 0 0.00 7 3 30.00 90 0 0.00 89 19 17.27 DOCK2 0 genome.wustl.edu 37 5 169494579 169494579 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 169494579 169494579 G A SNP DOCK2 ENST00000256935 human ensembl 74_37 +1 known missense c.4533 p.M1511I 1.000 pfam_DOCK_C pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain - no_errors DOCK2 HGNC ENSG00000134516 tier1 - - 105 0 0.00 55 6 9.84 106 0 0.00 102 16 13.56 DENND2A 0 genome.wustl.edu 37 7 140273687 140273687 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 140273687 140273687 G A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known missense c.1367 p.S456F 1.000 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 102 0 0.00 73 23 23.96 135 0 0.00 137 31 18.45 LYST 0 genome.wustl.edu 37 1 235929492 235929492 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 235929492 235929492 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.6008 p.P2003L 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 41 0 0.00 29 4 12.12 101 0 0.00 88 32 26.45 KIAA0226 0 genome.wustl.edu 37 3 197444872 197444872 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 197444872 197444872 G A SNP KIAA0226 ENST00000296343 human ensembl 74_37 -1 known silent c.195 p.L65 0.995 pfam_Run,pfscan_Run pfam_Run,smart_Run,pfscan_Run - no_errors KIAA0226 HGNC ENSG00000145016 tier1 - - 33 0 0.00 18 6 25.00 79 0 0.00 50 19 27.54 UBAC1 0 genome.wustl.edu 37 9 138831595 138831595 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 138831595 138831595 G A SNP UBAC1 ENST00000371756 human ensembl 74_37 -1 known missense c.887 p.S296F 1.000 pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk pfam_UBA/Ts_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk - no_errors UBAC1 HGNC ENSG00000130560 tier1 - - 29 0 0.00 23 15 39.47 90 0 0.00 56 17 23.29 TDRD6 0 genome.wustl.edu 37 6 46659235 46659235 + Missense_Mutation SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 46659235 46659235 T G SNP TDRD6 ENST00000316081 human ensembl 74_37 +1 known missense c.3370 p.L1124V 0.000 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor - no_errors TDRD6 HGNC ENSG00000180113 tier1 - - 69 0 0.00 30 8 21.05 130 0 0.00 91 36 28.35 HCN4 0 genome.wustl.edu 37 15 73617298 73617298 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 73617298 73617298 C T SNP HCN4 ENST00000261917 human ensembl 74_37 -1 known missense c.1976 p.G659E 1.000 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom pfam_Ion_trans_N,pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,prints_K_chnl_volt-dep_EAG/ELK/ERG,pfscan_cNMP-bd_dom - no_errors HCN4 HGNC ENSG00000138622 tier1 - - 36 0 0.00 21 8 27.59 16 0 0.00 20 13 39.39 IFI35 0 genome.wustl.edu 37 17 41165591 41165591 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 41165591 41165591 C T SNP IFI35 ENST00000438323 human ensembl 74_37 +1 known silent c.480 p.F160 1.000 pfam_Nmi/IFP35_dom pfam_Nmi/IFP35_dom,pfam_Nmi/IFP35_N - no_errors IFI35 HGNC ENSG00000068079 tier1 - - 23 0 0.00 9 4 30.77 117 0 0.00 80 23 22.33 USH2A 0 genome.wustl.edu 37 1 216373131 216373131 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 216373131 216373131 C T SNP USH2A ENST00000366943 human ensembl 74_37 -1 known missense c.3649 p.D1217N 0.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N - no_errors USH2A HGNC ENSG00000042781 tier1 - - 68 0 0.00 53 12 18.46 106 0 0.00 105 21 16.67 TMEM63A 0 genome.wustl.edu 37 1 226049967 226049967 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 226049967 226049967 G A SNP TMEM63A ENST00000366835 human ensembl 74_37 -1 known missense c.1036 p.P346S 1.000 NULL pfam_DUF221 - no_errors TMEM63A HGNC ENSG00000196187 tier1 - - 67 0 0.00 48 12 20.00 109 0 0.00 113 24 17.52 ERCC8 0 genome.wustl.edu 37 5 60198336 60198336 + Splice_Site SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 60198336 60198336 C T SNP ERCC8 ENST00000265038 human ensembl 74_37 -1 known splice_site c.551-1 e7-1 1.000 - - - no_errors ERCC8 HGNC ENSG00000049167 tier1 - - 130 0 0.00 67 14 17.28 114 0 0.00 109 23 17.42 AK9 0 genome.wustl.edu 37 6 109837058 109837058 + Splice_Site SNP A A C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 109837058 109837058 A C SNP AK9 ENST00000424296 human ensembl 74_37 -1 known splice_site c.4065+2 e30+2 1.000 - - - no_errors AK9 HGNC ENSG00000155085 tier1 - - 116 0 0.00 38 18 32.14 141 0 0.00 107 42 28.19 DHX32 0 genome.wustl.edu 37 10 127569269 127569269 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 127569269 127569269 G A SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.125 p.P42L 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 tier1 - - 90 0 0.00 32 4 11.11 145 0 0.00 73 24 24.74 TLR3 0 genome.wustl.edu 37 4 187003983 187003983 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 187003983 187003983 G A SNP TLR3 ENST00000296795 human ensembl 74_37 +1 known silent c.1143 p.L381 0.939 smart_Leu-rich_rpt_typical-subtyp pfam_TIR_dom,pfam_Leu-rich_rpt,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom - no_errors TLR3 HGNC ENSG00000164342 tier1 - - 35 0 0.00 15 3 16.67 150 0 0.00 122 18 12.86 FAT3 0 genome.wustl.edu 37 11 92523348 92523348 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 92523348 92523348 C T SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.4575 p.D1525 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 17 0 0.00 18 5 21.74 81 0 0.00 64 15 18.99 N6AMT1 0 genome.wustl.edu 37 21 30248727 30248727 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 21 30248727 30248727 G A SNP N6AMT1 ENST00000303775 human ensembl 74_37 -1 known missense c.625 p.L209F 1.000 tigrfam_PrmC_related pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_PrmC_related - no_errors N6AMT1 HGNC ENSG00000156239 tier1 - - 58 0 0.00 34 6 15.00 31 0 0.00 27 10 27.03 MAGEC1 0 genome.wustl.edu 37 X 140994128 140994128 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 140994128 140994128 C T SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known missense c.938 p.S313F 0.259 NULL pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 122 0 0.00 49 29 37.18 33 0 0.00 19 9 32.14 MYH2 0 genome.wustl.edu 37 17 10448735 10448735 + Missense_Mutation SNP C C A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 10448735 10448735 C A SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.433 p.G145C 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 159 0 0.00 54 15 21.74 22 0 0.00 22 3 12.00 LTV1 0 genome.wustl.edu 37 6 144178506 144178506 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 144178506 144178506 C T SNP LTV1 ENST00000367576 human ensembl 74_37 +1 known missense c.464 p.P155L 1.000 pfam_LTV pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 tier1 - - 58 0 0.00 28 5 15.15 86 0 0.00 63 12 16.00 UNC13C 0 genome.wustl.edu 37 15 54305706 54305706 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 54305706 54305706 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known silent c.606 p.T202 0.311 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 50 0 0.00 23 5 17.86 156 0 0.00 130 41 23.98 LINGO1 0 genome.wustl.edu 37 15 77907555 77907555 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 77907555 77907555 C T SNP LINGO1 ENST00000355300 human ensembl 74_37 -1 known missense c.694 p.D232N 1.000 smart_Leu-rich_rpt_typical-subtyp pfam_Leu-rich_rpt,pfam_Ig_I-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors LINGO1 HGNC ENSG00000169783 tier1 - - 29 0 0.00 28 10 26.32 100 0 0.00 79 22 21.78 KRTAP24-1 0 genome.wustl.edu 37 21 31654816 31654816 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 21 31654816 31654816 G A SNP KRTAP24-1 ENST00000340345 human ensembl 74_37 -1 known silent c.435 p.L145 0.000 pfam_KRTAP_PMG pfam_KRTAP_PMG - no_errors KRTAP24-1 HGNC ENSG00000188694 tier1 - - 82 0 0.00 54 9 14.06 137 0 0.00 112 37 24.83 CAC1E 0 genome.wustl.edu 37 1 181686364 181686364 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 181686364 181686364 G A SNP CAC1E ENST00000367573 human ensembl 74_37 +1 known missense c.1451 p.S484N 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CAC1E HGNC ENSG00000198216 tier1 - - 46 0 0.00 14 4 22.22 104 0 0.00 100 15 13.04 GPR97 0 genome.wustl.edu 37 16 57719753 57719753 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 57719753 57719753 G A SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known silent c.1455 p.L485 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 tier1 - - 58 0 0.00 35 14 28.57 94 0 0.00 53 20 27.40 SERPI1 0 genome.wustl.edu 37 14 94847281 94847281 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 94847281 94847281 C T SNP SERPI1 ENST00000355814 human ensembl 74_37 -1 known missense c.844 p.G282R 0.976 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPI1 HGNC ENSG00000197249 tier1 - - 66 0 0.00 53 20 27.40 89 0 0.00 93 19 16.96 AK5 0 genome.wustl.edu 37 1 77779527 77779527 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 77779527 77779527 C T SNP AK5 ENST00000317704 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors AK5 HGNC ENSG00000154027 tier1 - - 63 0 0.00 31 11 26.19 65 0 0.00 38 33 45.83 CCR9 0 genome.wustl.edu 37 3 45943138 45943138 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 45943138 45943138 C T SNP CCR9 ENST00000357632 human ensembl 74_37 +1 known silent c.858 p.I286 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Chemokine_CCR7,prints_ATII_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_Chemokine_CCR9,prints_Chemokine_rcpt,prints_Chemokine_CCR7,prints_ATII_rcpt,prints_Chemokine_CCRL1,prints_Chemokine_CXCR4 - no_errors CCR9 HGNC ENSG00000173585 tier1 - - 56 0 0.00 23 7 23.33 91 0 0.00 68 19 21.84 PROSER1 0 genome.wustl.edu 37 13 39587630 39587630 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 39587630 39587630 G A SNP PROSER1 ENST00000352251 human ensembl 74_37 -1 known missense c.1759 p.P587S 0.001 NULL NULL - no_errors PROSER1 HGNC ENSG00000120685 tier1 - - 50 0 0.00 41 10 19.61 80 0 0.00 69 17 19.77 SNW1 0 genome.wustl.edu 37 14 78184493 78184493 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 78184493 78184493 G A SNP SNW1 ENST00000261531 human ensembl 74_37 -1 known missense c.1549 p.P517S 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 tier1 - - 53 0 0.00 30 7 18.92 51 0 0.00 46 14 23.33 KMT2E 0 genome.wustl.edu 37 7 104714102 104714102 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 104714102 104714102 C T SNP KMT2E ENST00000257745 human ensembl 74_37 +1 known silent c.534 p.R178 1.000 NULL pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger - no_errors KMT2E HGNC ENSG00000005483 tier1 - - 201 0 0.00 86 28 24.35 159 0 0.00 90 36 28.57 CASP4 0 genome.wustl.edu 37 11 104825485 104825485 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 104825485 104825485 G A SNP CASP4 ENST00000444739 human ensembl 74_37 -1 known missense c.251 p.P84L 0.000 superfamily_DEATH-like_dom,smart_CARD,pirsf_Caspase_IL-1_beta pfam_Pept_C14_caspase,pfam_CARD,superfamily_DEATH-like_dom,smart_CARD,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 CASP4 HGNC ENSG00000196954 tier1 - - 45 0 0.00 28 10 26.32 117 0 0.00 121 36 22.93 E2F4 0 genome.wustl.edu 37 16 67229880 67229880 + Missense_Mutation SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 67229880 67229880 T G SNP E2F4 ENST00000379378 human ensembl 74_37 +1 known missense c.1004 p.F335C 1.000 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 tier1 - - 117 0 0.00 59 25 29.76 112 0 0.00 107 23 17.69 WNK4 0 genome.wustl.edu 37 17 40947104 40947104 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 40947104 40947104 C T SNP WNK4 ENST00000246914 human ensembl 74_37 +1 known missense c.2665 p.P889S 0.984 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors WNK4 HGNC ENSG00000126562 tier1 - - 60 0 0.00 45 5 10.00 126 0 0.00 102 24 19.05 PCDHGB3 0 genome.wustl.edu 37 5 140750935 140750935 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 140750935 140750935 G A SNP PCDHGB3 ENST00000576222 human ensembl 74_37 +1 known missense c.974 p.G325E 1.000 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 PCDHGB3 HGNC ENSG00000262209 tier1 - - 43 0 0.00 43 8 15.38 130 0 0.00 88 25 22.12 THSD7B 0 genome.wustl.edu 37 2 138414659 138414659 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 138414659 138414659 G A SNP THSD7B ENST00000272643 human ensembl 74_37 +1 known nonsense c.4313 p.W1438* 1.000 NULL pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt - no_errors THSD7B HGNC ENSG00000144229 tier1 - - 67 0 0.00 42 9 17.65 151 0 0.00 110 32 22.54 FREM2 0 genome.wustl.edu 37 13 39265511 39265511 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 39265511 39265511 C T SNP FREM2 ENST00000280481 human ensembl 74_37 +1 known missense c.4030 p.R1344C 1.000 NULL pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta - no_errors FREM2 HGNC ENSG00000150893 tier1 rs114409305 GMAF=0.0005 71 0 0.00 34 10 22.73 126 0 0.00 130 21 13.82 EHD3 0 genome.wustl.edu 37 2 31484465 31484465 + Missense_Mutation SNP C C A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 31484465 31484465 C A SNP EHD3 ENST00000322054 human ensembl 74_37 +1 known missense c.966 p.F322L 0.751 superfamily_P-loop_NTPase pfam_Dynamin_GTPase,superfamily_P-loop_NTPase,smart_EPS15_homology,pfscan_EF_hand_dom,pfscan_EPS15_homology - no_errors EHD3 HGNC ENSG00000013016 tier1 - - 61 0 0.00 49 12 19.67 65 0 0.00 60 18 23.08 SERPING1 0 genome.wustl.edu 37 11 57373454 57373454 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 57373454 57373454 C T SNP SERPING1 ENST00000531605 human ensembl 74_37 +1 known rna NULL NULL 0.174 - - - no_errors SERPING1 HGNC ENSG00000149131 tier1 - - 49 0 0.00 23 8 25.81 119 0 0.00 123 22 15.07 PIGN 0 genome.wustl.edu 37 18 59824377 59824377 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 59824377 59824377 G A SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.427 p.P143S 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 tier1 - - 60 0 0.00 40 9 18.37 128 0 0.00 93 14 13.08 FBXO10 0 genome.wustl.edu 37 9 37537587 37537587 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 37537587 37537587 G A SNP FBXO10 ENST00000432825 human ensembl 74_37 -1 known silent c.939 p.I313 0.117 NULL pfam_F-box_dom,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom,smart_F-box_dom,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,pfscan_F-box_dom,tigrfam_Para_beta_helix_rpt-2 - no_errors FBXO10 HGNC ENSG00000147912 tier1 - - 47 0 0.00 41 11 21.15 67 0 0.00 48 19 27.94 PGM1 0 genome.wustl.edu 37 1 64104443 64104443 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 64104443 64104443 C T SNP PGM1 ENST00000371083 human ensembl 74_37 +1 known silent c.1170 p.S390 1.000 pfam_A-D-PHexomutase_a/b/a-III,superfamily_A-D-PHexomutase_a/b/a-I/II/III pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,pfam_A-D-PHexomutase_C,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF - no_errors PGM1 HGNC ENSG00000079739 tier1 - - 107 0 0.00 54 33 37.93 123 0 0.00 103 44 29.93 CCDC7 0 genome.wustl.edu 37 10 32833209 32833209 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 32833209 32833209 G A SNP CCDC7 ENST00000277657 human ensembl 74_37 +1 known missense c.1114 p.E372K 0.671 NULL NULL - no_errors CCDC7 HGNC ENSG00000216937 tier1 - - 50 0 0.00 17 3 15.00 151 0 0.00 105 27 20.45 ZNF566 0 genome.wustl.edu 37 19 36940504 36940504 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 36940504 36940504 G A SNP ZNF566 ENST00000392170 human ensembl 74_37 -1 known missense c.635 p.P212L 0.950 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 ZNF566 HGNC ENSG00000186017 tier1 - - 68 0 0.00 36 10 21.74 111 0 0.00 88 23 20.72 PSMG1 0 genome.wustl.edu 37 21 40552221 40552221 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 21 40552221 40552221 G A SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known missense c.383 p.S128F 0.083 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 tier1 - - 82 0 0.00 36 13 26.53 100 1 0.99 97 23 19.17 DCAF8L1 0 genome.wustl.edu 37 X 27998918 27998918 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 27998918 27998918 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known silent c.534 p.G178 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 tier1 - - 28 0 0.00 5 10 66.67 16 0 0.00 11 11 50.00 DJC10 0 genome.wustl.edu 37 2 183582840 183582840 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 183582840 183582840 C T SNP DJC10 ENST00000264065 human ensembl 74_37 +1 known silent c.27 p.D9 0.025 pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DJC10 HGNC ENSG00000077232 tier1 - - 57 0 0.00 34 11 24.44 95 1 1.04 81 23 22.12 SNW1 0 genome.wustl.edu 37 14 78184492 78184492 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 78184492 78184492 G C SNP SNW1 ENST00000261531 human ensembl 74_37 -1 known missense c.1550 p.P517R 1.000 NULL pfam_SKI-int_prot_SKIP_SNW-dom,superfamily_Signal_recog_particl_SRP54_hlx - no_errors SNW1 HGNC ENSG00000100603 tier1 - - 53 0 0.00 30 7 18.92 52 0 0.00 47 14 22.95 PLCB1 0 genome.wustl.edu 37 20 8708034 8708034 + Missense_Mutation SNP T T A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 8708034 8708034 T A SNP PLCB1 ENST00000338037 human ensembl 74_37 +1 known missense c.1757 p.F586Y 1.000 pirsf_PLC-beta,pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,prints_Pinositol_PLipase_C,pfscan_C2_dom,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y - no_errors PLCB1 HGNC ENSG00000182621 tier1 - - 50 0 0.00 27 4 12.90 155 0 0.00 127 35 21.60 ABCC3 0 genome.wustl.edu 37 17 48755231 48755231 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 48755231 48755231 G C SNP ABCC3 ENST00000285238 human ensembl 74_37 +1 known missense c.3505 p.D1169H 0.922 pfam_ABC_transptr_TM_dom,superfamily_ABC1_TM_dom,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC1_TM_dom,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom,tigrfam_Multidrug-R_assoc - no_errors ABCC3 HGNC ENSG00000108846 tier1 - - 43 0 0.00 40 5 11.11 73 0 0.00 92 17 15.60 OR4K15 0 genome.wustl.edu 37 14 20443867 20443867 + Silent SNP T T C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 20443867 20443867 T C SNP OR4K15 ENST00000305051 human ensembl 74_37 +1 known silent c.190 p.L64 0.004 pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4K15 HGNC ENSG00000169488 tier1 - - 95 0 0.00 89 16 15.24 96 0 0.00 75 14 15.73 EFTUD1 0 genome.wustl.edu 37 15 82444423 82444423 + Missense_Mutation SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 82444423 82444423 A G SNP EFTUD1 ENST00000268206 human ensembl 74_37 -1 known missense c.2372 p.M791T 0.000 superfamily_Ribosomal_S5_D2-typ_fold pfam_EF_GTP-bd_dom,pfam_EFG_V,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_EFG_III-V,superfamily_Transl_B-barrel,smart_EFG_V,prints_EF_GTP-bd_dom,tigrfam_Small_GTP-bd_dom - no_errors EFTUD1 HGNC ENSG00000140598 tier1 - - 43 0 0.00 20 11 35.48 91 0 0.00 78 25 24.27 KLHL30 0 genome.wustl.edu 37 2 239054443 239054443 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 239054443 239054443 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known missense c.1120 p.A374T 0.080 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 tier1 - - 67 0 0.00 30 8 21.05 18 0 0.00 16 3 15.79 CDH10 0 genome.wustl.edu 37 5 24537506 24537506 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 24537506 24537506 G A SNP CDH10 ENST00000264463 human ensembl 74_37 -1 known missense c.509 p.P170L 1.000 pfam_Cadherin,superfamily_Cadherin-like,prints_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors CDH10 HGNC ENSG00000040731 tier1 - - 49 0 0.00 25 8 24.24 148 0 0.00 138 30 17.86 KIAA1211 0 genome.wustl.edu 37 4 57180968 57180968 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 57180968 57180968 G A SNP KIAA1211 ENST00000504228 human ensembl 74_37 +1 known missense c.1300 p.E434K 0.000 NULL NULL - no_errors KIAA1211 HGNC ENSG00000109265 tier1 - - 176 0 0.00 83 18 17.82 85 0 0.00 73 17 18.89 ZNF404 0 genome.wustl.edu 37 19 44378125 44378125 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 44378125 44378125 G A SNP ZNF404 ENST00000587539 human ensembl 74_37 -1 known missense c.241 p.L81F 0.015 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 tier1 - - 44 0 0.00 38 11 22.45 146 0 0.00 123 39 24.07 TSSK1B 0 genome.wustl.edu 37 5 112769637 112769637 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 112769637 112769637 G A SNP TSSK1B ENST00000390666 human ensembl 74_37 -1 known silent c.900 p.P300 0.574 superfamily_Kinase-like_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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors TSSK1B HGNC ENSG00000212122 tier1 - - 63 0 0.00 21 12 36.36 69 0 0.00 58 15 20.55 ZNF404 0 genome.wustl.edu 37 19 44378126 44378126 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 44378126 44378126 G A SNP ZNF404 ENST00000587539 human ensembl 74_37 -1 known silent c.240 p.N80 0.004 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF404 HGNC ENSG00000176222 tier1 - - 44 0 0.00 38 10 20.83 147 0 0.00 122 39 24.22 PCGF6 0 genome.wustl.edu 37 10 105063592 105063592 + R SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 105063592 105063592 G C SNP PCGF6 ENST00000490296 human ensembl 74_37 -1 known rna NULL NULL 0.006 - - - no_errors PCGF6 HGNC ENSG00000156374 tier1 - - 79 0 0.00 31 12 27.91 95 0 0.00 64 22 25.29 ZNF831 0 genome.wustl.edu 37 20 57766556 57766556 + Missense_Mutation SNP A A C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 57766556 57766556 A C SNP ZNF831 ENST00000371030 human ensembl 74_37 +1 novel missense c.482 p.K161T 1.000 smart_Znf_C2H2-like,pfscan_Znf_C2H2 smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF831 HGNC ENSG00000124203 tier1 - - 57 0 0.00 35 14 28.57 52 0 0.00 30 15 33.33 DQX1 0 genome.wustl.edu 37 2 74752172 74752172 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 74752172 74752172 G A SNP DQX1 ENST00000393951 human ensembl 74_37 -1 known missense c.395 p.P132L 1.000 superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DQX1 HGNC ENSG00000144045 tier1 - - 77 0 0.00 42 5 10.64 51 0 0.00 55 8 12.70 C9 0 genome.wustl.edu 37 5 39341679 39341679 + Missense_Mutation SNP T T C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 39341679 39341679 T C SNP C9 ENST00000263408 human ensembl 74_37 -1 known missense c.307 p.N103D 0.922 pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,prints_MAC_perforin,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt - no_errors C9 HGNC ENSG00000113600 tier1 - - 58 0 0.00 33 9 21.43 97 1 1.01 76 23 23.23 MUC17 0 genome.wustl.edu 37 7 100676336 100676336 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 100676336 100676336 G A SNP MUC17 ENST00000306151 human ensembl 74_37 +1 known missense c.1639 p.E547K 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_EG-like_dom,pfscan_SEA_dom - no_errors MUC17 HGNC ENSG00000169876 tier1 - - 121 0 0.00 64 12 15.79 32 0 0.00 34 7 17.07 C9orf50 0 genome.wustl.edu 37 9 132381854 132381854 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 132381854 132381854 G A SNP C9orf50 ENST00000372478 human ensembl 74_37 -1 known silent c.661 p.L221 0.001 NULL NULL - no_errors C9orf50 HGNC ENSG00000179058 tier1 - - 82 0 0.00 47 9 16.07 98 0 0.00 100 12 10.71 ACVR1B 0 genome.wustl.edu 37 12 52369177 52369177 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 52369177 52369177 G A SNP ACVR1B ENST00000257963 human ensembl 74_37 +1 known missense c.220 p.E74K 1.000 pfam_Activin_rcpt pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors ACVR1B HGNC ENSG00000135503 tier1 - - 33 0 0.00 15 3 16.67 63 0 0.00 50 7 12.28 PSMC3 0 genome.wustl.edu 37 11 47445599 47445599 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 47445599 47445599 C T SNP PSMC3 ENST00000298852 human ensembl 74_37 -1 known missense c.589 p.E197K 1.000 superfamily_P-loop_NTPase,tigrfam_26S_Psome_P45 pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,pfam_D_helicase_Holl-junc_RuvB_N,superfamily_P-loop_NTPase,smart_AAA+_ATPase,tigrfam_26S_Psome_P45 - no_errors PSMC3 HGNC ENSG00000165916 tier1 - - 37 0 0.00 19 4 17.39 86 0 0.00 80 20 20.00 NEK1 0 genome.wustl.edu 37 4 170359399 170359399 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 170359399 170359399 C T SNP NEK1 ENST00000507142 human ensembl 74_37 -1 known missense c.2599 p.E867K 0.896 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,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors NEK1 HGNC ENSG00000137601 tier1 - - 35 0 0.00 19 5 20.83 115 0 0.00 86 21 19.63 UBQLN3 0 genome.wustl.edu 37 11 5529535 5529535 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 5529535 5529535 C T SNP UBQLN3 ENST00000311659 human ensembl 74_37 -1 known silent c.1254 p.E418 0.000 NULL pfam_Ubiquitin_dom,pfam_Rad60/SUMO_like,pfam_UBA/Ts_N,superfamily_UBA-like,superfamily_ARM-type_fold,smart_Ubiquitin_dom,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup - no_errors UBQLN3 HGNC ENSG00000175520 tier1 - - 112 0 0.00 57 26 31.33 130 0 0.00 129 25 16.23 PLEKHG4B 0 genome.wustl.edu 37 5 162046 162046 + Missense_Mutation SNP A A C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 162046 162046 A C SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1568 p.E523A 0.003 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 66 0 0.00 26 13 33.33 29 0 0.00 21 16 42.11 DCAF8L1 0 genome.wustl.edu 37 X 27998919 27998919 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 27998919 27998919 C T SNP DCAF8L1 ENST00000441525 human ensembl 74_37 -1 known missense c.533 p.G178E 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF8L1 HGNC ENSG00000226372 tier1 - - 28 0 0.00 5 10 66.67 16 0 0.00 11 11 50.00 GALNT13 0 genome.wustl.edu 37 2 155252643 155252643 + Splice_Site SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 155252643 155252643 G A SNP GALNT13 ENST00000409237 human ensembl 74_37 +1 known splice_site c.1296+1 e8+1 1.000 - - - no_errors GALNT13 HGNC ENSG00000144278 tier1 - - 93 0 0.00 59 14 19.18 127 0 0.00 79 18 18.56 RNF17 0 genome.wustl.edu 37 13 25367256 25367256 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 25367256 25367256 G A SNP RNF17 ENST00000255324 human ensembl 74_37 +1 known missense c.1012 p.D338N 0.006 NULL pfam_Tudor,smart_Tudor,pfscan_Tudor,pfscan_Znf_RING - no_errors RNF17 HGNC ENSG00000132972 tier1 - - 69 0 0.00 34 15 30.61 94 0 0.00 110 22 16.67 DH17 0 genome.wustl.edu 37 17 76567361 76567361 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 76567361 76567361 C T SNP DH17 ENST00000389840 human ensembl 74_37 -1 known missense c.832 p.G278R 0.974 pfam_Dynein_heavy_dom-1 pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,superfamily_HR1_rho-bd - no_errors DH17 HGNC ENSG00000187775 tier1 - - 39 0 0.00 21 6 22.22 124 0 0.00 106 14 11.67 FAT3 0 genome.wustl.edu 37 11 92523349 92523349 + Missense_Mutation SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 92523349 92523349 C G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.4576 p.H1526D 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 17 0 0.00 18 5 21.74 80 0 0.00 64 15 18.99 SLCO1A2 0 genome.wustl.edu 37 12 21445200 21445200 + Missense_Mutation SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 21445200 21445200 C G SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.1508 p.G503A 0.428 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 82 0 0.00 53 14 20.90 146 0 0.00 108 39 26.53 OSBPL6 0 genome.wustl.edu 37 2 179260226 179260226 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 179260226 179260226 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known silent c.2757 p.T919 0.998 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 117 0 0.00 58 10 14.71 139 0 0.00 146 20 12.05 PHLDB2 0 genome.wustl.edu 37 3 111637923 111637923 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 111637923 111637923 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1724 p.P575L 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 124 0 0.00 37 12 24.00 156 0 0.00 117 21 15.11 SATB2 0 genome.wustl.edu 37 2 200246469 200246469 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 200246469 200246469 C T SNP SATB2 ENST00000260926 human ensembl 74_37 -1 known missense c.421 p.D141N 1.000 NULL pfam_Hmoeo_CUT,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Hmoeo_CUT - no_errors SATB2 HGNC ENSG00000119042 tier1 - - 83 0 0.00 47 9 16.07 89 0 0.00 74 17 18.68 ZNF214 0 genome.wustl.edu 37 11 7021487 7021487 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 7021487 7021487 C T SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.1427 p.G476E 0.999 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 ZNF214 HGNC ENSG00000149050 tier1 - - 59 0 0.00 26 6 18.75 111 0 0.00 88 28 24.14 EMB 0 genome.wustl.edu 37 5 49701670 49701670 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 49701670 49701670 C T SNP EMB ENST00000303221 human ensembl 74_37 -1 known silent c.489 p.G163 0.853 pfam_Ig_I-set,pfscan_Ig-like_dom pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like_dom - no_errors EMB HGNC ENSG00000170571 tier1 - - 111 0 0.00 59 14 19.18 77 0 0.00 86 23 21.10 PSMG1 0 genome.wustl.edu 37 21 40552220 40552220 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 21 40552220 40552220 G A SNP PSMG1 ENST00000331573 human ensembl 74_37 -1 known silent c.384 p.S128 0.001 pirsf_Proteasome_assmbl_chp_1 pirsf_Proteasome_assmbl_chp_1 - no_errors PSMG1 HGNC ENSG00000183527 tier1 - - 80 0 0.00 36 14 28.00 102 0 0.00 99 23 18.85 ZNF324B 0 genome.wustl.edu 37 19 58966802 58966802 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 58966802 58966802 C T SNP ZNF324B ENST00000336614 human ensembl 74_37 +1 known missense c.491 p.S164F 0.032 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF324B HGNC ENSG00000249471 tier1 - - 60 0 0.00 29 12 29.27 29 0 0.00 30 4 11.76 SLCO1A2 0 genome.wustl.edu 37 12 21445201 21445201 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 21445201 21445201 C T SNP SLCO1A2 ENST00000307378 human ensembl 74_37 -1 known missense c.1507 p.G503R 0.442 pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter - no_errors SLCO1A2 HGNC ENSG00000084453 tier1 - - 83 0 0.00 53 13 19.70 146 1 0.68 109 38 25.68 PPP1R9B 0 genome.wustl.edu 37 17 48213002 48213002 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 48213002 48213002 G A SNP PPP1R9B ENST00000316878 human ensembl 74_37 -1 known silent c.2310 p.F770 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors PPP1R9B HGNC ENSG00000108819 tier1 - - 38 0 0.00 17 5 22.73 68 0 0.00 57 19 25.00 ARAP2 0 genome.wustl.edu 37 4 36126536 36126536 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 36126536 36126536 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.3694 p.L1232F 0.966 pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 - - 51 0 0.00 37 7 15.91 119 1 0.83 106 24 18.46 COL9A1 0 genome.wustl.edu 37 6 70950397 70950397 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 70950397 70950397 C T SNP COL9A1 ENST00000357250 human ensembl 74_37 -1 known missense c.2074 p.E692K 1.000 pfam_Collagen pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G - no_errors COL9A1 HGNC ENSG00000112280 tier1 - - 54 0 0.00 28 8 22.22 115 0 0.00 66 13 16.25 PLEKHG5 0 genome.wustl.edu 37 1 6533333 6533333 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 6533333 6533333 G A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known missense c.1010 p.P337L 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 11 0 0.00 6 7 53.85 16 0 0.00 13 2 13.33 ZNF214 0 genome.wustl.edu 37 11 7021488 7021488 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 7021488 7021488 C T SNP ZNF214 ENST00000278314 human ensembl 74_37 -1 known missense c.1426 p.G476R 1.000 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 ZNF214 HGNC ENSG00000149050 tier1 - - 58 0 0.00 27 6 18.18 111 0 0.00 91 28 23.53 FAM83F 0 genome.wustl.edu 37 22 40417726 40417726 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 22 40417726 40417726 C T SNP FAM83F ENST00000333407 human ensembl 74_37 +1 known silent c.1212 p.V404 0.001 NULL pfam_DUF1669 - no_errors FAM83F HGNC ENSG00000133477 tier1 - - 101 0 0.00 46 14 23.33 42 0 0.00 41 8 16.33 GLIS3 0 genome.wustl.edu 37 9 4118552 4118552 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 4118552 4118552 G C SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known missense c.926 p.S309C 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 tier1 - - 46 0 0.00 39 7 15.22 74 0 0.00 75 13 14.77 SLC44A5 0 genome.wustl.edu 37 1 76007151 76007151 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 76007151 76007151 C T SNP SLC44A5 ENST00000469525 human ensembl 74_37 -1 known rna NULL NULL 0.671 - - - no_errors SLC44A5 HGNC ENSG00000137968 tier1 - - 83 0 0.00 50 13 20.63 141 0 0.00 100 28 21.88 HINT2 0 genome.wustl.edu 37 9 35813318 35813318 + Silent SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 35813318 35813318 G C SNP HINT2 ENST00000259667 human ensembl 74_37 -1 known silent c.345 p.L115 1.000 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like,prints_Histidine_triad_HIT - no_errors HINT2 HGNC ENSG00000137133 tier1 - - 47 0 0.00 24 8 25.00 104 0 0.00 98 26 20.97 FLJ46361 0 genome.wustl.edu 37 10 124516507 124516507 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 124516507 124516507 G A SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.034 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 - - 38 0 0.00 22 13 37.14 56 0 0.00 38 11 22.45 RYR2 0 genome.wustl.edu 37 1 237754098 237754098 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 237754098 237754098 C T SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.3960 p.L1320 0.088 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_hand_dom,pfscan_MIR_motif - no_errors RYR2 HGNC ENSG00000198626 tier1 - - 46 0 0.00 26 11 29.73 46 0 0.00 50 9 15.25 AOX2P 0 genome.wustl.edu 37 2 201645537 201645537 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 201645537 201645537 G A SNP AOX2P ENST00000467645 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors AOX2P HGNC ENSG00000243478 tier1 - - 24 0 0.00 18 6 25.00 143 0 0.00 110 21 15.91 ASTN1 0 genome.wustl.edu 37 1 177001985 177001985 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 177001985 177001985 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.472 p.G158S 1.000 NULL superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 23 0 0.00 20 5 20.00 71 0 0.00 58 14 19.44 LEO1 0 genome.wustl.edu 37 15 52246734 52246734 + Silent SNP T T C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 52246734 52246734 T C SNP LEO1 ENST00000299601 human ensembl 74_37 -1 known silent c.1284 p.E428 0.997 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 - - 42 0 0.00 22 4 15.38 78 0 0.00 67 18 21.18 SPEF2 0 genome.wustl.edu 37 5 35753864 35753864 + Splice_Site SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 35753864 35753864 G A SNP SPEF2 ENST00000356031 human ensembl 74_37 +1 known splice_site c.3468+1 e24+1 1.000 - - - no_errors SPEF2 HGNC ENSG00000152582 tier1 - - 47 0 0.00 13 4 23.53 90 0 0.00 73 22 22.92 KLHL30 0 genome.wustl.edu 37 2 239054442 239054442 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 239054442 239054442 G A SNP KLHL30 ENST00000409223 human ensembl 74_37 +1 known silent c.1119 p.A373 0.005 pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL30 HGNC ENSG00000168427 tier1 - - 65 0 0.00 30 9 23.08 18 0 0.00 16 3 15.79 ITPR3 0 genome.wustl.edu 37 6 33630708 33630708 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 33630708 33630708 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known silent c.879 p.C293 1.000 pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 44 0 0.00 9 6 40.00 50 0 0.00 25 4 13.79 CTN1 0 genome.wustl.edu 37 5 138268382 138268382 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 138268382 138268382 G A SNP CTN1 ENST00000302763 human ensembl 74_37 +1 known missense c.2414 p.G805E 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTN1 HGNC ENSG00000044115 tier1 - - 51 0 0.00 25 10 28.57 48 0 0.00 40 14 25.93 ASTN1 0 genome.wustl.edu 37 1 177001986 177001986 + Splice_Site SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 177001986 177001986 C T SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known splice_site c.472-1 e3-1 1.000 - - - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 23 0 0.00 21 4 16.00 71 0 0.00 57 14 19.72 COL6A3 0 genome.wustl.edu 37 2 238303535 238303535 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 238303535 238303535 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.404 p.G135E 1.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 33 0 0.00 11 6 35.29 85 0 0.00 78 17 17.89 FLJ46361 0 genome.wustl.edu 37 10 124545555 124545555 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 124545555 124545555 G A SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.907 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 - - 88 0 0.00 39 12 23.53 155 0 0.00 98 39 28.47 SLC4A5 0 genome.wustl.edu 37 2 74480151 74480151 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 74480151 74480151 G A SNP SLC4A5 ENST00000357822 human ensembl 74_37 -1 known silent c.1218 p.D406 1.000 pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk pfam_HCO3_transpt_C,pfam_Band3_cytoplasmic_dom,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,prints_Na/HCO3_transpt,tigrfam_HCO3_transpt_euk - no_errors SLC4A5 HGNC ENSG00000188687 tier1 - - 91 0 0.00 37 11 22.92 91 0 0.00 84 17 16.83 CSNK1G2-AS1 0 genome.wustl.edu 37 19 1954140 1954140 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 1954140 1954140 C T SNP CSNK1G2-AS1 ENST00000314315 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CSNK1G2-AS1 HGNC ENSG00000180846 tier1 - - 40 0 0.00 16 6 27.27 111 0 0.00 67 22 24.72 COL6A3 0 genome.wustl.edu 37 2 238303536 238303536 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 238303536 238303536 C T SNP COL6A3 ENST00000295550 human ensembl 74_37 -1 known missense c.403 p.G135R 0.999 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL6A3 HGNC ENSG00000163359 tier1 - - 34 0 0.00 11 7 38.89 85 0 0.00 78 17 17.89 COG6 0 genome.wustl.edu 37 13 40253752 40253752 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 40253752 40253752 G A SNP COG6 ENST00000455146 human ensembl 74_37 +1 known silent c.618 p.T206 0.642 pfam_COG6 pfam_COG6 - no_errors COG6 HGNC ENSG00000133103 tier1 rs147738794 - 47 0 0.00 33 6 15.38 143 0 0.00 130 34 20.73 ENSG00000267561 0 genome.wustl.edu 37 1 87633842 87633842 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 87633842 87633842 G A SNP ENSG00000267561 ENST00000370548 human ensembl 74_37 +1 putative missense c.895 p.G299R 0.033 NULL pfam_Sulfotransferase,superfamily_P-loop_NTPase - no_errors RP5-1052I5.2 Clone_based_vega_gene ENSG00000267561 tier1 - - 52 0 0.00 27 3 10.00 78 0 0.00 57 16 21.92 OR4C13 0 genome.wustl.edu 37 11 49974640 49974640 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 49974640 49974640 C T SNP OR4C13 ENST00000555099 human ensembl 74_37 +1 known silent c.666 p.S222 0.040 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4C13 HGNC ENSG00000258817 tier1 - - 69 0 0.00 55 9 14.06 43 0 0.00 33 5 13.16 HDC 0 genome.wustl.edu 37 15 50540515 50540515 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 50540515 50540515 C T SNP HDC ENST00000267845 human ensembl 74_37 -1 known missense c.1067 p.R356Q 1.000 pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase,prints_Aromatic_deC - no_errors HDC HGNC ENSG00000140287 tier1 - - 66 0 0.00 30 5 14.29 133 0 0.00 98 28 22.22 OTUB1 0 genome.wustl.edu 37 11 63764973 63764973 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 63764973 63764973 C T SNP OTUB1 ENST00000422031 human ensembl 74_37 +1 known silent c.882 p.V294 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 - - 35 0 0.00 18 4 18.18 53 0 0.00 49 15 23.44 BPIFA4P 0 genome.wustl.edu 37 20 31787179 31787179 + R SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 31787179 31787179 C G SNP BPIFA4P ENST00000375465 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors BPIFA4P HGNC ENSG00000183566 tier1 - - 88 0 0.00 61 17 21.79 91 0 0.00 83 26 23.85 HGF 0 genome.wustl.edu 37 7 81374339 81374339 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 81374339 81374339 G A SNP HGF ENST00000222390 human ensembl 74_37 -1 known silent c.723 p.H241 0.994 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 tier1 - - 67 0 0.00 38 14 26.92 54 0 0.00 44 11 20.00 CPNE1 0 genome.wustl.edu 37 20 34214297 34214297 + Silent SNP G G T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 34214297 34214297 G T SNP CPNE1 ENST00000317677 human ensembl 74_37 -1 known silent c.1495 p.R499 0.923 NULL pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom - no_errors CPNE1 HGNC ENSG00000214078 tier1 - - 62 0 0.00 26 9 25.71 99 0 0.00 63 45 41.67 ACSM4 0 genome.wustl.edu 37 12 7459151 7459151 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 7459151 7459151 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.224 p.P75L 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 tier1 - - 106 0 0.00 43 14 24.56 103 1 0.96 65 17 20.73 RBFOX3 0 genome.wustl.edu 37 17 77111712 77111712 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 77111712 77111712 G A SNP RBFOX3 ENST00000415831 human ensembl 74_37 -1 known missense c.86 p.P29L 1.000 pirsf_R-bd_Fox-1 pfam_Fox-1_C_dom,pfam_RRM_dom,smart_RRM_dom,pirsf_R-bd_Fox-1,pfscan_RRM_dom - no_errors RBFOX3 HGNC ENSG00000167281 tier1 - - 36 0 0.00 20 10 33.33 10 0 0.00 11 4 26.67 F11 0 genome.wustl.edu 37 4 187207625 187207625 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 187207625 187207625 G A SNP F11 ENST00000403665 human ensembl 74_37 +1 known missense c.1537 p.D513N 0.851 pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,smart_Apple,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Peptidase_S1,prints_Apple,prints_Peptidase_S1A - no_errors F11 HGNC ENSG00000088926 tier1 - - 64 0 0.00 43 11 20.37 128 0 0.00 81 27 25.00 CHIAP2 0 genome.wustl.edu 37 1 111827805 111827805 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 111827805 111827805 C T SNP CHIAP2 ENST00000369743 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CHIAP2 HGNC ENSG00000203878 tier1 - - 31 0 0.00 27 13 32.50 136 0 0.00 110 25 18.52 CCM2 0 genome.wustl.edu 37 7 45104166 45104166 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 45104166 45104166 C T SNP CCM2 ENST00000381112 human ensembl 74_37 +1 known silent c.456 p.I152 1.000 pfscan_PTB/PI_dom pfscan_PTB/PI_dom - no_errors CCM2 HGNC ENSG00000136280 tier1 - - 32 0 0.00 17 8 32.00 87 0 0.00 76 20 20.83 PLEKHG4B 0 genome.wustl.edu 37 5 162045 162045 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 162045 162045 G A SNP PLEKHG4B ENST00000283426 human ensembl 74_37 +1 known missense c.1567 p.E523K 0.001 NULL pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG4B HGNC ENSG00000153404 tier1 - - 67 0 0.00 25 13 34.21 30 0 0.00 22 15 40.54 PCDHGC3 0 genome.wustl.edu 37 5 140855793 140855793 + Missense_Mutation SNP T T C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 140855793 140855793 T C SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.110 p.I37T 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 tier1 - - 28 0 0.00 21 7 25.00 45 0 0.00 51 11 17.74 SLC22A10 0 genome.wustl.edu 37 11 63064849 63064849 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 63064849 63064849 C T SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known missense c.581 p.P194L 0.909 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 tier1 - - 49 0 0.00 29 7 19.44 86 0 0.00 109 29 21.01 HIVEP1 0 genome.wustl.edu 37 6 12161889 12161889 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 12161889 12161889 C T SNP HIVEP1 ENST00000379388 human ensembl 74_37 +1 known silent c.6705 p.T2235 0.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP1 HGNC ENSG00000095951 tier1 - - 28 0 0.00 4 5 55.56 97 0 0.00 62 30 32.61 HINT2 0 genome.wustl.edu 37 9 35813317 35813317 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 35813317 35813317 G A SNP HINT2 ENST00000259667 human ensembl 74_37 -1 known missense c.346 p.L116F 1.000 pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like pfam_Histidine_triad_HIT,superfamily_HIT-like,pfscan_HIT-like,prints_Histidine_triad_HIT - no_errors HINT2 HGNC ENSG00000137133 tier1 - - 48 0 0.00 25 8 24.24 102 0 0.00 95 25 20.83 C1orf168 0 genome.wustl.edu 37 1 57285087 57285087 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 57285087 57285087 C T SNP C1orf168 ENST00000484327 human ensembl 74_37 -1 known rna NULL NULL 0.043 - - - no_errors C1orf168 HGNC ENSG00000187889 tier1 - - 38 0 0.00 25 14 35.90 53 0 0.00 37 19 33.93 GLIS3 0 genome.wustl.edu 37 9 4118551 4118551 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 4118551 4118551 G A SNP GLIS3 ENST00000381971 human ensembl 74_37 -1 known silent c.927 p.S309 0.020 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors GLIS3 HGNC ENSG00000107249 tier1 - - 46 0 0.00 38 6 13.64 74 0 0.00 75 13 14.77 DJC10 0 genome.wustl.edu 37 2 183616418 183616418 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 183616418 183616418 C T SNP DJC10 ENST00000264065 human ensembl 74_37 +1 known missense c.1340 p.A447V 1.000 superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DJC10 HGNC ENSG00000077232 tier1 - - 90 0 0.00 50 7 12.28 136 0 0.00 126 26 17.11 EIF4A2 0 genome.wustl.edu 37 3 186502839 186502839 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 186502839 186502839 C T SNP EIF4A2 ENST00000440191 human ensembl 74_37 +1 known silent c.300 p.F100 1.000 pfam_D/R_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_R_helicase_DEAD_Q_motif - no_errors EIF4A2 HGNC ENSG00000156976 tier1 - - 44 0 0.00 20 5 20.00 118 0 0.00 81 25 23.58 ADAR 0 genome.wustl.edu 37 1 154569412 154569412 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 154569412 154569412 G A SNP ADAR ENST00000292205 human ensembl 74_37 -1 known silent c.2268 p.V756 0.870 NULL pfam_A_deamin,pfam_dsR_A_deaminase,pfam_dsR-bd_dom,smart_dsR_A_deaminase,smart_dsR-bd_dom,smart_A_deamin,pfscan_dsR-bd_dom,pfscan_dsR_A_deaminase,pfscan_A_deamin - no_errors ADAR HGNC ENSG00000160710 tier1 - - 69 0 0.00 41 6 12.77 90 0 0.00 93 24 20.17 PLA2G5 0 genome.wustl.edu 37 1 20416384 20416384 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 20416384 20416384 C T SNP PLA2G5 ENST00000375108 human ensembl 74_37 +1 known silent c.288 p.T96 1.000 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2 - no_errors PLA2G5 HGNC ENSG00000127472 tier1 - - 61 0 0.00 36 6 14.29 85 0 0.00 68 20 22.73 DMRT1 0 genome.wustl.edu 37 9 894113 894113 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 894113 894113 C T SNP DMRT1 ENST00000382276 human ensembl 74_37 +1 known missense c.740 p.P247L 0.090 NULL pfam_DM_D-bd,pfam_DMRT1-like,superfamily_DM_D-bd,smart_DM_D-bd,pfscan_DM_D-bd - no_errors DMRT1 HGNC ENSG00000137090 tier1 - - 49 0 0.00 32 6 15.79 81 0 0.00 59 7 10.61 DHX32 0 genome.wustl.edu 37 10 127569270 127569270 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 127569270 127569270 G A SNP DHX32 ENST00000284690 human ensembl 74_37 -1 known missense c.124 p.P42S 1.000 superfamily_P-loop_NTPase pfam_Helicase-assoc_dom,pfam_DUF1605,superfamily_P-loop_NTPase,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd - no_errors DHX32 HGNC ENSG00000089876 tier1 - - 88 0 0.00 34 4 10.53 148 0 0.00 73 24 24.74 SMCR2 0 genome.wustl.edu 37 17 17578726 17578726 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 17578726 17578726 G A SNP SMCR2 ENST00000456090 human ensembl 74_37 -1 known rna NULL NULL 0.154 - - - no_errors SMCR2 HGNC ENSG00000223979 tier1 - - 48 0 0.00 25 8 24.24 96 0 0.00 96 20 17.09 SYT15 0 genome.wustl.edu 37 10 46965865 46965865 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 46965865 46965865 G A SNP SYT15 ENST00000374323 human ensembl 74_37 -1 known silent c.831 p.T277 0.031 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors SYT15 HGNC ENSG00000204176 tier1 - - 68 0 0.00 32 4 11.11 37 0 0.00 38 7 15.56 OR11A1 0 genome.wustl.edu 37 6 29395205 29395205 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 29395205 29395205 C T SNP OR11A1 ENST00000377147 human ensembl 74_37 -1 known missense c.214 p.D72N 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_GPCR_Rhodpsn,prints_Olfact_rcpt,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11A1 HGNC ENSG00000204694 tier1 - - 38 0 0.00 15 8 34.78 89 0 0.00 51 20 28.17 PCLO 0 genome.wustl.edu 37 7 82764729 82764729 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 82764729 82764729 G A SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.2137 p.H713Y 0.888 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 - - 73 0 0.00 38 8 17.39 152 0 0.00 115 30 20.69 EXPH5 0 genome.wustl.edu 37 11 108381888 108381888 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 108381888 108381888 C T SNP EXPH5 ENST00000265843 human ensembl 74_37 -1 known missense c.4346 p.G1449E 0.000 NULL superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors EXPH5 HGNC ENSG00000110723 tier1 - - 44 0 0.00 14 6 30.00 93 0 0.00 73 22 22.92 RIOK3 0 genome.wustl.edu 37 18 21055006 21055006 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 21055006 21055006 C T SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known missense c.1108 p.P370S 1.000 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 tier1 - - 94 0 0.00 67 13 16.25 109 0 0.00 78 25 24.27 CAPN3 0 genome.wustl.edu 37 15 42678474 42678474 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 42678474 42678474 C T SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known silent c.489 p.F163 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 tier1 - - 42 0 0.00 31 12 27.91 80 0 0.00 105 19 15.32 CEACAM18 0 genome.wustl.edu 37 19 51981872 51981872 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 51981872 51981872 C T SNP CEACAM18 ENST00000451626 human ensembl 74_37 +1 known silent c.159 p.L53 0.000 NULL pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM18 HGNC ENSG00000213822 tier1 - - 58 0 0.00 57 10 14.93 53 0 0.00 48 8 14.04 ALG12 0 genome.wustl.edu 37 22 50297507 50297507 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 22 50297507 50297507 C T SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known silent c.1446 p.E482 0.643 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 tier1 - - 105 0 0.00 63 17 21.25 54 0 0.00 38 10 20.83 HIVEP2 0 genome.wustl.edu 37 6 143094200 143094200 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 143094200 143094200 G A SNP HIVEP2 ENST00000012134 human ensembl 74_37 -1 known missense c.1676 p.S559F 0.998 NULL pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors HIVEP2 HGNC ENSG00000010818 tier1 - - 38 0 0.00 31 7 18.42 93 0 0.00 80 21 20.79 RIOK3 0 genome.wustl.edu 37 18 21055005 21055005 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 21055005 21055005 C T SNP RIOK3 ENST00000339486 human ensembl 74_37 +1 known silent c.1107 p.A369 0.971 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 pfam_RIO-like_kinase,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_RIO_kinase,pirsf_Ser/Thr_kinase_Rio3 - no_errors RIOK3 HGNC ENSG00000101782 tier1 - - 94 0 0.00 67 13 16.25 109 0 0.00 80 25 23.81 LYZL2 0 genome.wustl.edu 37 10 30900941 30900941 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 30900941 30900941 C T SNP LYZL2 ENST00000375318 human ensembl 74_37 -1 known silent c.528 p.K176 0.982 pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys pfam_Glyco_hydro_22,superfamily_Lysozyme-like_dom,smart_Glyco_hydro_22,prints_Glyco_hydro_22,prints_Glyco_hydro_22_lys - no_errors LYZL2 HGNC ENSG00000151033 tier1 - - 111 0 0.00 46 18 28.12 87 0 0.00 42 17 28.81 CST9L 0 genome.wustl.edu 37 20 23548949 23548949 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 23548949 23548949 G A SNP CST9L ENST00000376979 human ensembl 74_37 -1 known missense c.139 p.L47F 0.008 NULL pfam_Prot_inh_cystat - no_errors CST9L HGNC ENSG00000101435 tier1 - - 84 0 0.00 35 14 28.57 122 0 0.00 101 27 21.09 PCGF6 0 genome.wustl.edu 37 10 105063591 105063591 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 105063591 105063591 G A SNP PCGF6 ENST00000490296 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors PCGF6 HGNC ENSG00000156374 tier1 - - 78 0 0.00 31 12 27.91 93 1 1.06 65 22 25.29 RAB11FIP1 0 genome.wustl.edu 37 8 37732414 37732414 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 37732414 37732414 G C SNP RAB11FIP1 ENST00000330843 human ensembl 74_37 -1 known missense c.1241 p.P414R 0.014 NULL pfam_Rab-bd_FIP-RBD,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom - no_errors RAB11FIP1 HGNC ENSG00000156675 tier1 - - 35 0 0.00 23 9 28.12 92 0 0.00 76 19 20.00 MAP1A 0 genome.wustl.edu 37 15 43814473 43814473 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 43814473 43814473 C T SNP MAP1A ENST00000399453 human ensembl 74_37 +1 known missense c.802 p.P268S 1.000 NULL NULL - no_errors MAP1A HGNC ENSG00000166963 tier1 - - 50 0 0.00 29 15 34.09 119 0 0.00 106 36 25.35 NCKAP5L 0 genome.wustl.edu 37 12 50190165 50190165 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 50190165 50190165 G A SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.1478 p.S493L 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 tier1 - - 26 0 0.00 21 9 30.00 9 0 0.00 16 2 11.11 ARSEP1 0 genome.wustl.edu 37 Y 14467979 14467979 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e Y 14467979 14467979 G A SNP ARSEP1 ENST00000430152 human ensembl 74_37 +1 known rna NULL NULL 0.982 - - - no_errors ARSEP1 HGNC ENSG00000224060 tier1 - - 40 0 0.00 17 12 41.38 83 0 0.00 51 17 25.00 ALG12 0 genome.wustl.edu 37 22 50297506 50297506 + Silent SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 22 50297506 50297506 T G SNP ALG12 ENST00000330817 human ensembl 74_37 -1 known silent c.1447 p.R483 0.646 NULL pfam_GPI_mannosylTrfase - no_errors ALG12 HGNC ENSG00000182858 tier1 - - 104 0 0.00 63 19 23.17 54 0 0.00 39 10 20.41 C11orf86 0 genome.wustl.edu 37 11 66743715 66743715 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 66743715 66743715 C T SNP C11orf86 ENST00000308963 human ensembl 74_37 +1 known missense c.341 p.S114F 0.973 NULL NULL - no_errors C11orf86 HGNC ENSG00000173237 tier1 - - 43 0 0.00 19 4 17.39 33 0 0.00 14 5 26.32 ZNF281 0 genome.wustl.edu 37 1 200378098 200378098 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 200378098 200378098 C T SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known missense c.736 p.V246I 0.967 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 tier1 - - 40 0 0.00 18 5 21.74 110 0 0.00 128 37 22.42 ARHGEF16 0 genome.wustl.edu 37 1 3397101 3397101 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 3397101 3397101 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known missense c.2080 p.E694K 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 tier1 - - 96 0 0.00 52 12 18.75 21 0 0.00 18 6 25.00 ULK2 0 genome.wustl.edu 37 17 19687131 19687131 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 19687131 19687131 G A SNP ULK2 ENST00000361658 human ensembl 74_37 -1 known missense c.2339 p.S780F 1.000 pirsf_Ser/Thr_kin_STPK_Ulk-1/2 pfam_Prot_kinase_dom,pfam_Ser/Thr_kinase_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_RIO-like_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kin_STPK_Ulk-1/2,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors ULK2 HGNC ENSG00000083290 tier1 - - 36 0 0.00 23 5 17.86 20 0 0.00 16 5 23.81 NUP210L 0 genome.wustl.edu 37 1 154042844 154042844 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 154042844 154042844 C T SNP NUP210L ENST00000368559 human ensembl 74_37 -1 known nonsense c.2459 p.W820* 1.000 NULL pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2 - no_errors NUP210L HGNC ENSG00000143552 tier1 - - 44 0 0.00 32 14 30.43 145 0 0.00 144 32 18.18 TFR2 0 genome.wustl.edu 37 7 100224890 100224890 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 100224890 100224890 G A SNP TFR2 ENST00000223051 human ensembl 74_37 -1 known silent c.1992 p.L664 1.000 superfamily_TFR-like_dimer_dom pfam_TFR-like_dimer_dom,pfam_Peptidase_M28,pfam_Protease-assoc_domain,superfamily_TFR-like_dimer_dom - no_errors TFR2 HGNC ENSG00000106327 tier1 - - 188 0 0.00 96 23 19.33 69 0 0.00 53 15 22.06 ABL2 0 genome.wustl.edu 37 1 179078352 179078352 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 179078352 179078352 C T SNP ABL2 ENST00000502732 human ensembl 74_37 -1 known missense c.2050 p.E684K 1.000 NULL pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_F-actin_binding,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,pfam_SH3-like_bac-type,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL2 HGNC ENSG00000143322 tier1 - - 53 0 0.00 36 10 21.28 74 0 0.00 80 32 28.57 FGFR1 0 genome.wustl.edu 37 8 38279355 38279355 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 38279355 38279355 G A SNP FGFR1 ENST00000425967 human ensembl 74_37 -1 known silent c.1134 p.I378 1.000 pirsf_FGF_rcpt_fam,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pirsf_FGF_rcpt_fam,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors FGFR1 HGNC ENSG00000077782 tier1 - - 60 0 0.00 36 11 23.40 108 0 0.00 92 33 26.40 ATG3 0 genome.wustl.edu 37 3 112256658 112256658 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 112256658 112256658 G C SNP ATG3 ENST00000283290 human ensembl 74_37 -1 known missense c.590 p.T197S 1.000 NULL pfam_Autophagy-rel_prot_3_N,pfam_Autophagy-rel_prot_3,pfam_Autophagy-rel_prot_3_C - no_errors ATG3 HGNC ENSG00000144848 tier1 - - 98 0 0.00 53 13 19.70 166 0 0.00 113 24 17.39 HLA-V 0 genome.wustl.edu 37 6 29764888 29764888 + R SNP T T C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 29764888 29764888 T C SNP HLA-V ENST00000457107 human ensembl 74_37 +1 known rna NULL NULL 0.191 - - - no_errors HLA-V HGNC ENSG00000181126 tier1 - - 39 0 0.00 24 7 22.58 126 0 0.00 68 21 23.60 ARPP21 0 genome.wustl.edu 37 3 35779763 35779763 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 35779763 35779763 C T SNP ARPP21 ENST00000417925 human ensembl 74_37 +1 known missense c.1600 p.P534S 1.000 NULL pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd - no_errors ARPP21 HGNC ENSG00000172995 tier1 - - 45 0 0.00 25 3 10.71 105 0 0.00 79 9 10.23 KCNK10 0 genome.wustl.edu 37 14 88693813 88693813 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 88693813 88693813 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.587 p.G196E 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 tier1 - - 88 0 0.00 39 15 27.78 146 0 0.00 128 32 20.00 PAXBP1 0 genome.wustl.edu 37 21 34131506 34131506 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 21 34131506 34131506 G A SNP PAXBP1 ENST00000331923 human ensembl 74_37 -1 known missense c.1268 p.S423F 1.000 NULL pfam_GCFC_dom - no_errors PAXBP1 HGNC ENSG00000159086 tier1 - - 56 0 0.00 39 11 22.00 127 0 0.00 100 34 25.19 DRP2 0 genome.wustl.edu 37 X 100513529 100513529 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 100513529 100513529 C T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known silent c.2622 p.L874 0.999 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 - - 30 0 0.00 9 8 47.06 8 0 0.00 10 7 41.18 PIGN 0 genome.wustl.edu 37 18 59824376 59824376 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 59824376 59824376 G A SNP PIGN ENST00000357637 human ensembl 74_37 -1 known missense c.428 p.P143L 1.000 pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core pfam_GPI_EtnP_transferase_1_C,pfam_Phosphodiest/P_Trfase,pfam_Sulfatase,superfamily_Alkaline_phosphatase_core - no_errors PIGN HGNC ENSG00000197563 tier1 - - 61 0 0.00 40 10 20.00 128 0 0.00 95 14 12.84 SLC5A12 0 genome.wustl.edu 37 11 26714026 26714026 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 26714026 26714026 C T SNP SLC5A12 ENST00000280467 human ensembl 74_37 -1 known missense c.1163 p.S388N 0.852 pfscan_Na/solute_symporter pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A12 HGNC ENSG00000148942 tier1 - - 64 0 0.00 38 11 22.45 95 0 0.00 93 29 23.77 MAGEC1 0 genome.wustl.edu 37 X 140995998 140995998 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 140995998 140995998 G A SNP MAGEC1 ENST00000285879 human ensembl 74_37 +1 known silent c.2808 p.T936 0.001 pfam_MAGE,pfscan_MAGE pfam_MAGE,pfscan_MAGE - no_errors MAGEC1 HGNC ENSG00000155495 tier1 - - 17 0 0.00 11 7 38.89 30 0 0.00 14 8 36.36 NCAPG2 0 genome.wustl.edu 37 7 158486169 158486169 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 158486169 158486169 G A SNP NCAPG2 ENST00000409339 human ensembl 74_37 -1 known silent c.99 p.F33 1.000 superfamily_ARM-type_fold pfam_Condensin2_G2,superfamily_ARM-type_fold - no_errors NCAPG2 HGNC ENSG00000146918 tier1 - - 27 0 0.00 27 7 20.59 101 0 0.00 74 23 23.71 KCNK10 0 genome.wustl.edu 37 14 88693814 88693814 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 88693814 88693814 C T SNP KCNK10 ENST00000312350 human ensembl 74_37 -1 known missense c.586 p.G196R 1.000 pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl pfam_2pore_dom_K_chnl_dom,prints_2pore_dom_K_chnl_TREK,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TRAAK,prints_2pore_dom_K_chnl_TASK - no_errors KCNK10 HGNC ENSG00000100433 tier1 - - 89 0 0.00 38 16 29.63 144 0 0.00 124 35 22.01 FAM167A 0 genome.wustl.edu 37 8 11301820 11301820 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 11301820 11301820 G A SNP FAM167A ENST00000284486 human ensembl 74_37 -1 known missense c.101 p.T34I 0.995 NULL pfam_FAM167 - no_errors FAM167A HGNC ENSG00000154319 tier1 - - 60 0 0.00 60 6 9.09 10 0 0.00 17 8 32.00 PALB2 0 genome.wustl.edu 37 16 23647329 23647329 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 23647329 23647329 C T SNP PALB2 ENST00000261584 human ensembl 74_37 -1 known missense c.538 p.E180K 0.002 NULL superfamily_WD40_repeat_dom - no_errors PALB2 HGNC ENSG00000083093 tier1 - - 43 0 0.00 20 4 16.67 105 0 0.00 102 16 13.56 LRP1B 0 genome.wustl.edu 37 2 142238083 142238083 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 142238083 142238083 G A SNP LRP1B ENST00000389484 human ensembl 74_37 -1 known silent c.225 p.I75 1.000 superfamily_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt_N_dom,superfamily_LDrepeatLR_classA_rpt,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 LRP1B HGNC ENSG00000168702 tier1 - - 74 0 0.00 41 5 10.87 138 0 0.00 127 30 19.11 DDHD1 0 genome.wustl.edu 37 14 53522448 53522448 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 53522448 53522448 C T SNP DDHD1 ENST00000323669 human ensembl 74_37 -1 known silent c.2175 p.V725 0.841 pfam_DDHD,pfscan_DDHD pfam_DDHD,pfscan_DDHD - no_errors DDHD1 HGNC ENSG00000100523 tier1 - - 104 0 0.00 70 21 23.08 144 0 0.00 89 30 25.21 ZMYM4 0 genome.wustl.edu 37 1 35857875 35857875 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 35857875 35857875 C T SNP ZMYM4 ENST00000314607 human ensembl 74_37 +1 known missense c.2650 p.P884S 1.000 NULL pfam_DUF3504,pfam_Znf_MYM,smart_TRASH_dom - no_errors ZMYM4 HGNC ENSG00000146463 tier1 - - 48 0 0.00 28 5 15.15 126 0 0.00 98 21 17.65 HMBOX1 0 genome.wustl.edu 37 8 28906844 28906844 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 28906844 28906844 G A SNP HMBOX1 ENST00000444075 human ensembl 74_37 +1 known missense c.1160 p.G387E 1.000 NULL pfam_HNF-1_N,pfam_Homeobox_dom,superfamily_Lambda_D-bd_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors HMBOX1 HGNC ENSG00000147421 tier1 - - 33 0 0.00 20 8 28.57 68 0 0.00 46 6 11.54 PCSK1 0 genome.wustl.edu 37 5 95728839 95728839 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 95728839 95728839 G A SNP PCSK1 ENST00000311106 human ensembl 74_37 -1 known missense c.2128 p.P710S 0.970 NULL pfam_Peptidase_S8/S53_dom,pfam_PrprotnconvertsP,pfam_Proho_convert,superfamily_Peptidase_S8/S53_dom,superfamily_Galactose-bd-like,superfamily_Prot_inh_propept,prints_Peptidase_S8_subtilisin-rel - no_errors PCSK1 HGNC ENSG00000175426 tier1 - - 80 0 0.00 58 13 18.31 147 0 0.00 141 20 12.42 CHRND 0 genome.wustl.edu 37 2 233399032 233399032 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 233399032 233399032 G A SNP CHRND ENST00000258385 human ensembl 74_37 +1 known missense c.1351 p.D451N 0.933 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRND HGNC ENSG00000135902 tier1 - - 39 0 0.00 31 5 13.89 169 1 0.59 150 26 14.77 ENSG00000258908 0 genome.wustl.edu 37 14 20943187 20943187 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 20943187 20943187 C T SNP ENSG00000258908 ENST00000554678 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-203M5.8 Clone_based_vega_gene ENSG00000258908 tier1 - - 39 0 0.00 24 8 25.00 121 0 0.00 89 26 22.61 TTN 0 genome.wustl.edu 37 2 179655564 179655564 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 179655564 179655564 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.1671 p.Q557 1.000 pfam_Titin_Z,superfamily_RNaseH-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 - - 108 0 0.00 56 7 11.11 135 0 0.00 122 29 19.21 TSPAN8 0 genome.wustl.edu 37 12 71533551 71533551 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 71533551 71533551 C T SNP TSPAN8 ENST00000247829 human ensembl 74_37 -1 known missense c.201 p.M67I 1.000 pfam_Tetraspanin/Peripherin,prints_Tetraspanin pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors TSPAN8 HGNC ENSG00000127324 tier1 - - 33 0 0.00 19 10 34.48 71 0 0.00 38 10 20.83 HGF 0 genome.wustl.edu 37 7 81374338 81374338 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 81374338 81374338 G A SNP HGF ENST00000222390 human ensembl 74_37 -1 known missense c.724 p.R242W 1.000 pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle pfam_Kringle,pfam_Peptidase_S1,pfam_PAN-1_domain,superfamily_Trypsin-like_Pept_dom,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HGF HGNC ENSG00000019991 tier1 rs202185530 - 66 0 0.00 38 14 26.42 54 0 0.00 46 11 19.30 PFKM 0 genome.wustl.edu 37 12 48535750 48535750 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 48535750 48535750 C T SNP PFKM ENST00000312352 human ensembl 74_37 +1 known silent c.1554 p.L518 1.000 pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk - no_errors PFKM HGNC ENSG00000152556 tier1 - - 57 0 0.00 49 15 23.08 104 0 0.00 72 23 24.21 TP53 0 genome.wustl.edu 37 17 7577540 7577540 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 7577540 7577540 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known silent c.741 p.N247 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 - - 50 0 0.00 21 7 25.00 85 0 0.00 49 11 18.33 SLC35C2 0 genome.wustl.edu 37 20 44979027 44979027 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 44979027 44979027 G A SNP SLC35C2 ENST00000480329 human ensembl 74_37 -1 known rna NULL NULL 0.036 - - - no_errors SLC35C2 HGNC ENSG00000080189 tier1 - - 83 0 0.00 26 11 29.73 37 0 0.00 50 24 32.43 DENND4A 0 genome.wustl.edu 37 15 66015249 66015249 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 66015249 66015249 G A SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known missense c.1525 p.P509S 1.000 NULL 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 tier1 - - 85 0 0.00 52 18 25.71 140 0 0.00 105 32 23.36 RIN3 0 genome.wustl.edu 37 14 93119342 93119342 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 93119342 93119342 C T SNP RIN3 ENST00000216487 human ensembl 74_37 +1 known nonsense c.1948 p.Q650* 1.000 NULL pfam_VPS9,smart_SH2,smart_VPS9_subgr,pfscan_Ras-assoc,pfscan_SH2,pfscan_VPS9 - no_errors RIN3 HGNC ENSG00000100599 tier1 - - 26 0 0.00 16 6 27.27 30 0 0.00 21 12 36.36 RABEP1 0 genome.wustl.edu 37 17 5284765 5284765 + Missense_Mutation SNP C C A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 5284765 5284765 C A SNP RABEP1 ENST00000262477 human ensembl 74_37 +1 known missense c.2452 p.Q818K 1.000 NULL pfam_Rabaptin_coiled-coil,pfam_Rabaptin_Rab5-bd_dom,prints_Rabaptin - no_errors RABEP1 HGNC ENSG00000029725 tier1 - - 91 0 0.00 43 6 12.24 105 0 0.00 94 13 12.15 FAT2 0 genome.wustl.edu 37 5 150887105 150887105 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 150887105 150887105 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.12127 p.D4043N 0.999 NULL pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 80 0 0.00 36 9 20.00 81 0 0.00 74 16 17.78 ESPL1 0 genome.wustl.edu 37 12 53680600 53680600 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 53680600 53680600 C T SNP ESPL1 ENST00000257934 human ensembl 74_37 +1 known silent c.4080 p.V1360 0.855 NULL pfam_Peptidase_C50,superfamily_DsrEFH-like - no_errors ESPL1 HGNC ENSG00000135476 tier1 - - 51 0 0.00 47 5 9.62 114 0 0.00 79 15 15.96 PPP2R5C 0 genome.wustl.edu 37 14 102359443 102359443 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 102359443 102359443 C T SNP PPP2R5C ENST00000422945 human ensembl 74_37 +1 known nonsense c.889 p.Q297* 1.000 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56 - no_errors PPP2R5C HGNC ENSG00000078304 tier1 - - 56 0 0.00 36 9 20.00 84 0 0.00 75 23 23.47 PTPRZ1 0 genome.wustl.edu 37 7 121668616 121668616 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 121668616 121668616 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known nonsense c.4999 p.Q1667* 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 61 0 0.00 32 9 21.95 169 0 0.00 118 30 20.27 LDLRAD4 0 genome.wustl.edu 37 18 13645200 13645200 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 13645200 13645200 C T SNP LDLRAD4 ENST00000359446 human ensembl 74_37 +1 known silent c.465 p.F155 1.000 NULL pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt - no_errors LDLRAD4 HGNC ENSG00000168675 tier1 - - 53 0 0.00 29 7 19.44 47 0 0.00 55 22 28.57 FAT2 0 genome.wustl.edu 37 5 150931138 150931138 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 150931138 150931138 C T SNP FAT2 ENST00000261800 human ensembl 74_37 -1 known missense c.4186 p.E1396K 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,superfamily_Cadherin-like,superfamily_ConA-like_lec_gl_sf,smart_Cadherin,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT2 HGNC ENSG00000086570 tier1 - - 53 0 0.00 31 6 16.22 128 0 0.00 89 14 13.59 ZNF281 0 genome.wustl.edu 37 1 200378099 200378099 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 200378099 200378099 C T SNP ZNF281 ENST00000294740 human ensembl 74_37 -1 known silent c.735 p.L245 0.966 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF281 HGNC ENSG00000162702 tier1 - - 40 0 0.00 19 5 20.83 109 0 0.00 129 36 21.82 CCNT2 0 genome.wustl.edu 37 2 135705305 135705305 + Splice_Site SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 135705305 135705305 G C SNP CCNT2 ENST00000264157 human ensembl 74_37 +1 known splice_site c.540-1 e7-1 1.000 - - - no_errors CCNT2 HGNC ENSG00000082258 tier1 - - 56 0 0.00 28 4 12.50 98 0 0.00 63 25 28.41 C11orf86 0 genome.wustl.edu 37 11 66743716 66743716 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 66743716 66743716 C T SNP C11orf86 ENST00000308963 human ensembl 74_37 +1 known silent c.342 p.S114 0.926 NULL NULL - no_errors C11orf86 HGNC ENSG00000173237 tier1 - - 43 0 0.00 19 4 17.39 31 0 0.00 14 5 26.32 MMP27 0 genome.wustl.edu 37 11 102567514 102567514 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 102567514 102567514 G A SNP MMP27 ENST00000260229 human ensembl 74_37 -1 known silent c.672 p.L224 0.985 pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,pirsf_Pept_M10A_Metazoans,prints_Pept_M10A - no_errors MMP27 HGNC ENSG00000137675 tier1 - - 51 0 0.00 32 4 11.11 143 0 0.00 123 35 22.15 ENSG00000223804 0 genome.wustl.edu 37 1 143663940 143663940 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 143663940 143663940 C T SNP ENSG00000223804 ENST00000440199 human ensembl 74_37 -1 known rna NULL NULL 0.035 - - - no_errors RP6-206I17.1 Clone_based_vega_gene ENSG00000223804 tier1 - - 81 0 0.00 58 16 21.62 45 0 0.00 45 12 21.05 KRTAP21-3 0 genome.wustl.edu 37 21 32091030 32091030 + Silent SNP A A C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 21 32091030 32091030 A C SNP KRTAP21-3 ENST00000444335 human ensembl 74_37 -1 known silent c.48 p.S16 0.000 NULL NULL - no_errors KRTAP21-3 HGNC ENSG00000231068 tier1 - - 65 0 0.00 29 9 23.68 129 0 0.00 107 24 18.32 SLFN13 0 genome.wustl.edu 37 17 33772391 33772391 + Splice_Site SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 33772391 33772391 C T SNP SLFN13 ENST00000530782 human ensembl 74_37 -1 known splice_site c.308+1 e1+1 0.000 - - - no_errors SLFN13 HGNC ENSG00000154760 tier1 - - 46 0 0.00 26 6 18.75 101 1 0.98 116 19 13.97 SRRM2 0 genome.wustl.edu 37 16 2815847 2815847 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 2815847 2815847 C T SNP SRRM2 ENST00000301740 human ensembl 74_37 +1 known missense c.5318 p.S1773F 1.000 NULL pfam_mR_splic_Cwf21 - no_errors SRRM2 HGNC ENSG00000167978 tier1 - - 100 0 0.00 59 21 26.25 55 0 0.00 43 16 27.12 IL36RN 0 genome.wustl.edu 37 2 113820212 113820212 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 113820212 113820212 G A SNP IL36RN ENST00000346807 human ensembl 74_37 +1 known nonsense c.426 p.W142* 0.012 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1 pfam_IL-1,superfamily_Cytokine_IL1-like,smart_IL-1,prints_IL-1RA/IL-36,prints_IL-1,prints_IL-1_alpha/beta - no_errors IL36RN HGNC ENSG00000136695 tier1 - - 62 0 0.00 23 8 25.81 57 0 0.00 44 14 24.14 AFF2 0 genome.wustl.edu 37 X 148035201 148035201 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 148035201 148035201 G A SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.1489 p.D497N 0.999 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 32 0 0.00 12 5 29.41 26 0 0.00 18 4 18.18 ARAP2 0 genome.wustl.edu 37 4 36214909 36214909 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 36214909 36214909 G A SNP ARAP2 ENST00000303965 human ensembl 74_37 -1 known missense c.997 p.P333S 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP - no_errors ARAP2 HGNC ENSG00000047365 tier1 rs141950924 - 71 0 0.00 46 6 11.54 95 1 1.03 104 26 19.85 EVPL 0 genome.wustl.edu 37 17 74006348 74006348 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 74006348 74006348 C T SNP EVPL ENST00000301607 human ensembl 74_37 -1 known missense c.2938 p.E980K 0.999 NULL pfam_Plectin_repeat,superfamily_Ferritin-like_SF,smart_Spectrin/alpha-actinin,smart_Plectin_repeat - no_errors EVPL HGNC ENSG00000167880 tier1 - - 51 0 0.00 21 8 27.59 21 0 0.00 16 3 15.79 PRRT2 0 genome.wustl.edu 37 16 29824915 29824915 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 29824915 29824915 G A SNP PRRT2 ENST00000567659 human ensembl 74_37 +1 known silent c.540 p.E180 0.998 NULL pfam_CD225/Dispanin_fam - no_errors PRRT2 HGNC ENSG00000167371 tier1 - - 62 0 0.00 39 6 13.33 35 0 0.00 33 4 10.81 GRM7 0 genome.wustl.edu 37 3 7188273 7188273 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 7188273 7188273 G A SNP GRM7 ENST00000402647 human ensembl 74_37 +1 known nonsense c.654 p.W218* 1.000 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,prints_GPCR_3 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_7,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM7 HGNC ENSG00000196277 tier1 - - 62 0 0.00 22 7 24.14 69 0 0.00 82 19 18.81 ST6GALC1 0 genome.wustl.edu 37 17 74622777 74622777 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 74622777 74622777 G A SNP ST6GALC1 ENST00000156626 human ensembl 74_37 -1 known missense c.1267 p.L423F 0.000 pfam_Glyco_trans_29 pfam_Glyco_trans_29 - no_errors ST6GALC1 HGNC ENSG00000070526 tier1 - - 69 0 0.00 57 5 8.06 122 0 0.00 118 30 20.27 RB1 0 genome.wustl.edu 37 13 48954210 48954210 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 48954210 48954210 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.1411 p.Q471* 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 - - 38 0 0.00 25 6 19.35 30 0 0.00 20 9 31.03 FGF13 0 genome.wustl.edu 37 X 137715093 137715093 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 137715093 137715093 C T SNP FGF13 ENST00000370603 human ensembl 74_37 -1 known missense c.686 p.G229E 1.000 NULL pfam_Fibroblast_GF_fam,superfamily_Cytokine_IL1-like,smart_Fibroblast_GF_fam,prints_IL-1_fam/FGF_fam,prints_Fibroblast_GF_fam - no_errors FGF13 HGNC ENSG00000129682 tier1 - - 42 0 0.00 12 7 36.84 35 0 0.00 32 23 41.82 DAF1 0 genome.wustl.edu 37 16 84203831 84203831 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 84203831 84203831 G A SNP DAF1 ENST00000378553 human ensembl 74_37 +1 known missense c.1397 p.G466E 0.819 NULL NULL - no_errors DAF1 HGNC ENSG00000154099 tier1 - - 146 0 0.00 92 9 8.82 102 0 0.00 56 10 15.15 ATRNL1 0 genome.wustl.edu 37 10 117059681 117059681 + Silent SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 117059681 117059681 A G SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.2553 p.E851 0.997 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_Kelch_1,pfam_Kelch_2,pfam_Plexin_repeat,pfam_CUB_dom,pfam_EGF_extracell,superfamily_C-type_lectin_fold,superfamily_CUB_dom,superfamily_Plexin-like_fold,smart_EG-like_dom,smart_CUB_dom,smart_Plexin-like_fold,smart_C-type_lectin,smart_EGF_laminin,pfscan_CUB_dom,pfscan_EG-like_dom,pfscan_EGF_laminin,pfscan_C-type_lectin - no_errors ATRNL1 HGNC ENSG00000107518 tier1 - - 78 0 0.00 33 7 17.50 132 1 0.75 84 28 24.78 CEP170P1 0 genome.wustl.edu 37 4 119459025 119459025 + R SNP A A C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 119459025 119459025 A C SNP CEP170P1 ENST00000412784 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors CEP170P1 HGNC ENSG00000154608 tier1 - - 52 0 0.00 37 12 24.49 56 0 0.00 44 12 21.43 ZNF287 0 genome.wustl.edu 37 17 16469915 16469915 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 16469915 16469915 G A SNP ZNF287 ENST00000395824 human ensembl 74_37 -1 known missense c.425 p.S142F 0.096 smart_Tscrpt_reg_SCAN pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN - no_errors ZNF287 HGNC ENSG00000141040 tier1 - - 76 0 0.00 55 12 17.91 125 0 0.00 124 31 20.00 COL7A1 0 genome.wustl.edu 37 3 48626426 48626426 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 48626426 48626426 G C SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known missense c.2317 p.P773A 1.000 NULL pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 30 0 0.00 15 4 21.05 73 0 0.00 55 13 19.12 TAS2R40 0 genome.wustl.edu 37 7 142919827 142919827 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 142919827 142919827 C T SNP TAS2R40 ENST00000408947 human ensembl 74_37 +1 known missense c.656 p.S219F 1.000 pfam_TAS2_rcpt pfam_TAS2_rcpt - no_errors TAS2R40 HGNC ENSG00000221937 tier1 - - 34 0 0.00 19 5 20.83 76 0 0.00 54 18 25.00 OLFM4 0 genome.wustl.edu 37 13 53624877 53624877 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 53624877 53624877 G A SNP OLFM4 ENST00000219022 human ensembl 74_37 +1 known missense c.1504 p.D502N 1.000 pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like pfam_Olfac-like,superfamily_Quinoprot_gluc/sorb_DH,smart_Olfac-like,pfscan_Olfac-like - no_errors OLFM4 HGNC ENSG00000102837 tier1 - - 55 0 0.00 28 9 24.32 128 0 0.00 117 42 26.42 UAP1L1 0 genome.wustl.edu 37 9 139975182 139975182 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 139975182 139975182 C T SNP UAP1L1 ENST00000409858 human ensembl 74_37 +1 known missense c.1220 p.S407F 1.000 pfam_UDPGP_trans pfam_UDPGP_trans - no_errors UAP1L1 HGNC ENSG00000197355 tier1 - - 69 0 0.00 41 11 21.15 72 0 0.00 48 11 18.64 OBSCN 0 genome.wustl.edu 37 1 228466451 228466451 + Silent SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 228466451 228466451 T G SNP OBSCN ENST00000422127 human ensembl 74_37 +1 known silent c.6921 p.G2307 0.000 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_DH-domain,pfam_IQ_motif_EF-hand-BS,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_IQ_motif_EF-hand-BS,smart_DH-domain,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_IQ_motif_EF-hand-BS,pfscan_Pleckstrin_homology,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom,pfscan_DH-domain - no_errors OBSCN HGNC ENSG00000154358 tier1 - - 61 0 0.00 25 14 35.90 37 0 0.00 21 5 19.23 CSMD3 0 genome.wustl.edu 37 8 113694742 113694742 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 113694742 113694742 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2606 p.G869E 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 CSMD3 HGNC ENSG00000164796 tier1 - - 76 0 0.00 50 11 18.03 157 1 0.63 168 50 22.94 RAPGEF5 0 genome.wustl.edu 37 7 22259605 22259605 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 22259605 22259605 C T SNP RAPGEF5 ENST00000344041 human ensembl 74_37 -1 known silent c.417 p.G139 0.951 NULL pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N - no_errors RAPGEF5 HGNC ENSG00000136237 tier1 - - 56 0 0.00 35 11 23.91 102 0 0.00 109 29 20.86 PLEKHG5 0 genome.wustl.edu 37 1 6533332 6533332 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 6533332 6533332 G A SNP PLEKHG5 ENST00000537245 human ensembl 74_37 -1 known silent c.1011 p.P337 1.000 NULL pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG5 HGNC ENSG00000171680 tier1 - - 10 0 0.00 6 7 53.85 16 0 0.00 13 2 13.33 N6AMT1 0 genome.wustl.edu 37 21 30248728 30248728 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 21 30248728 30248728 G A SNP N6AMT1 ENST00000303775 human ensembl 74_37 -1 known silent c.624 p.V208 1.000 tigrfam_PrmC_related pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,tigrfam_PrmC_related - no_errors N6AMT1 HGNC ENSG00000156239 tier1 - - 59 0 0.00 35 7 16.67 30 0 0.00 27 10 27.03 RBM5 0 genome.wustl.edu 37 3 50152992 50152992 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 50152992 50152992 G A SNP RBM5 ENST00000347869 human ensembl 74_37 +1 known silent c.1971 p.P657 0.980 pfscan_Znf_C2H2 pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom - no_errors RBM5 HGNC ENSG00000003756 tier1 - - 43 0 0.00 22 4 15.38 59 0 0.00 60 11 15.49 DLC1 0 genome.wustl.edu 37 8 13357080 13357080 + Silent SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 13357080 13357080 A G SNP DLC1 ENST00000276297 human ensembl 74_37 -1 known silent c.501 p.A167 0.002 NULL pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom - no_errors DLC1 HGNC ENSG00000164741 tier1 - - 28 0 0.00 18 5 21.74 151 0 0.00 117 25 17.61 LIPC 0 genome.wustl.edu 37 15 58837997 58837997 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 58837997 58837997 C T SNP LIPC ENST00000299022 human ensembl 74_37 +1 known missense c.631 p.P211S 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 tier1 - - 59 0 0.00 39 16 29.09 118 0 0.00 84 39 31.71 MLLT10 0 genome.wustl.edu 37 10 21827846 21827846 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 21827846 21827846 G A SNP MLLT10 ENST00000471315 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors MLLT10 HGNC ENSG00000078403 tier1 - - 73 0 0.00 22 13 37.14 146 0 0.00 125 23 15.54 SUPT5H 0 genome.wustl.edu 37 19 39961030 39961030 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 39961030 39961030 C T SNP SUPT5H ENST00000432763 human ensembl 74_37 +1 known missense c.1544 p.P515L 1.000 superfamily_Translation_prot_SH3-like,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 - - 44 0 0.00 33 10 23.26 24 0 0.00 23 9 28.12 NCKAP1L 0 genome.wustl.edu 37 12 54929946 54929946 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 54929946 54929946 C T SNP NCKAP1L ENST00000293373 human ensembl 74_37 +1 known missense c.2990 p.A997V 1.000 pfam_Nck-associated_protein-1 pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd - no_errors NCKAP1L HGNC ENSG00000123338 tier1 - - 61 0 0.00 22 9 29.03 88 0 0.00 85 24 22.02 ENSG00000187812 0 genome.wustl.edu 37 15 76071746 76071746 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 76071746 76071746 G A SNP ENSG00000187812 ENST00000395215 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RP11-24M17.5 Clone_based_vega_gene ENSG00000187812 tier1 - - 174 0 0.00 84 18 17.65 26 0 0.00 23 5 17.86 AFF3 0 genome.wustl.edu 37 2 100209981 100209981 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 100209981 100209981 G A SNP AFF3 ENST00000356421 human ensembl 74_37 -1 known silent c.2217 p.N739 0.002 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF3 HGNC ENSG00000144218 tier1 - - 52 0 0.00 19 8 29.63 32 0 0.00 38 15 28.30 PSG3 0 genome.wustl.edu 37 19 43226144 43226144 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 43226144 43226144 G A SNP PSG3 ENST00000595140 human ensembl 74_37 -1 putative missense c.1342 p.L448F 0.185 NULL pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors PSG3 HGNC ENSG00000221826 tier1 - - 129 0 0.00 76 20 20.83 125 1 0.78 85 17 16.67 GPR98 0 genome.wustl.edu 37 5 89988518 89988518 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 89988518 89988518 G A SNP GPR98 ENST00000405460 human ensembl 74_37 +1 known missense c.7048 p.G2350S 1.000 NULL 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 - - 67 0 0.00 37 6 13.95 119 1 0.83 101 23 18.40 GUCA1C 0 genome.wustl.edu 37 3 108634968 108634968 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 108634968 108634968 C T SNP GUCA1C ENST00000393963 human ensembl 74_37 -1 known missense c.448 p.G150R 0.996 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 tier1 - - 83 0 0.00 60 18 23.08 120 0 0.00 107 24 18.32 PTCHD2 0 genome.wustl.edu 37 1 11590009 11590009 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 11590009 11590009 G A SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known missense c.3095 p.G1032E 1.000 NULL pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 34 0 0.00 27 5 15.62 98 0 0.00 64 23 26.44 MSH3 0 genome.wustl.edu 37 5 80064660 80064660 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 80064660 80064660 G A SNP MSH3 ENST00000265081 human ensembl 74_37 +1 known silent c.2091 p.G697 0.992 pfam_D_mismatch_repair_MutS_core,superfamily_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_core pfam_D_mismatch_repair_MutS_C,pfam_D_mismatch_repair_MutS_core,pfam_D_mmatch_repair_MutS_con_dom,pfam_D_mismatch_repair_MutS-lik_N,pfam_D_mismatch_repair_MutS_clamp,superfamily_D_mismatch_repair_MutS_core,superfamily_P-loop_NTPase,superfamily_D_mismatch_repair_MutS_N,superfamily_D_mmatch_repair_MutS_con_dom,smart_D_mismatch_repair_MutS_core,smart_D_mismatch_repair_MutS_C - no_errors MSH3 HGNC ENSG00000113318 tier1 - - 90 0 0.00 54 17 23.94 111 1 0.88 101 19 15.83 FRAS1 0 genome.wustl.edu 37 4 79366786 79366786 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 79366786 79366786 C T SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.5776 p.P1926S 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 - - 69 0 0.00 44 12 21.43 110 0 0.00 104 21 16.80 MLLT10 0 genome.wustl.edu 37 10 21827847 21827847 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 21827847 21827847 G A SNP MLLT10 ENST00000471315 human ensembl 74_37 +1 known rna NULL NULL 0.955 - - - no_errors MLLT10 HGNC ENSG00000078403 tier1 - - 72 0 0.00 22 13 37.14 143 0 0.00 123 23 15.65 CALCB 0 genome.wustl.edu 37 11 15096298 15096298 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 15096298 15096298 C T SNP CALCB ENST00000324229 human ensembl 74_37 +1 known missense c.34 p.L12F 0.972 pfam_Procalcitonin/adrenomedullin pfam_Procalcitonin/adrenomedullin,smart_Calcitonin_peptide-like,prints_Calcitonin_gene-rel_peptide,prints_Pro-islet_amyloid_polypep - no_errors CALCB HGNC ENSG00000175868 tier1 - - 58 0 0.00 37 7 15.91 58 0 0.00 67 17 20.24 LTV1 0 genome.wustl.edu 37 6 144178505 144178505 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 144178505 144178505 C T SNP LTV1 ENST00000367576 human ensembl 74_37 +1 known missense c.463 p.P155S 1.000 pfam_LTV pfam_LTV - no_errors LTV1 HGNC ENSG00000135521 tier1 - - 59 0 0.00 29 5 14.71 86 0 0.00 64 12 15.79 PHLDB2 0 genome.wustl.edu 37 3 111637922 111637922 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 111637922 111637922 C T SNP PHLDB2 ENST00000393925 human ensembl 74_37 +1 known missense c.1723 p.P575S 1.000 NULL pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors PHLDB2 HGNC ENSG00000144824 tier1 - - 123 0 0.00 38 13 25.49 154 0 0.00 118 21 15.11 MAP2 0 genome.wustl.edu 37 2 210557733 210557733 + Nonsense_Mutation SNP T T A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 210557733 210557733 T A SNP MAP2 ENST00000360351 human ensembl 74_37 +1 known nonsense c.839 p.L280* 0.993 NULL pfam_MAP2_projctn,pfam_MAP_tubulin-bd_rpt - no_errors MAP2 HGNC ENSG00000078018 tier1 - - 57 0 0.00 36 12 25.00 159 1 0.62 123 20 13.99 KIF1C 0 genome.wustl.edu 37 17 4925690 4925690 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 4925690 4925690 G A SNP KIF1C ENST00000320785 human ensembl 74_37 +1 known missense c.2314 p.E772K 1.000 NULL pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_P-loop_NTPase,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF1C HGNC ENSG00000129250 tier1 - - 30 0 0.00 26 5 16.13 10 0 0.00 11 2 15.38 LIPE 0 genome.wustl.edu 37 19 42912445 42912445 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 42912445 42912445 C T SNP LIPE ENST00000244289 human ensembl 74_37 -1 known silent c.1449 p.Q483 1.000 pfam_HSL_N pfam_HSL_N,pfam_AB_hydrolase_3,pfam_Steryl_acetyl_hydrolase - no_errors LIPE HGNC ENSG00000079435 tier1 rs140139139 - 27 0 0.00 29 6 17.14 64 0 0.00 49 14 22.22 UPK1B 0 genome.wustl.edu 37 3 118905609 118905609 + Silent SNP T T A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 118905609 118905609 T A SNP UPK1B ENST00000264234 human ensembl 74_37 +1 known silent c.21 p.T7 0.410 NULL pfam_Tetraspanin/Peripherin,superfamily_Tetraspanin_EC2,prints_Tetraspanin - no_errors UPK1B HGNC ENSG00000114638 tier1 - - 82 0 0.00 33 11 25.00 171 0 0.00 163 45 21.63 FAT4 0 genome.wustl.edu 37 4 126241960 126241960 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 126241960 126241960 G A SNP FAT4 ENST00000394329 human ensembl 74_37 +1 known missense c.4394 p.R1465K 0.967 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 - - 37 0 0.00 22 8 26.67 123 0 0.00 88 13 12.87 PDZRN4 0 genome.wustl.edu 37 12 41961623 41961623 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 41961623 41961623 C T SNP PDZRN4 ENST00000402685 human ensembl 74_37 +1 known silent c.1506 p.F502 1.000 NULL pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING - no_errors PDZRN4 HGNC ENSG00000165966 tier1 - - 114 0 0.00 51 20 28.17 90 0 0.00 82 14 14.58 SAMD9 0 genome.wustl.edu 37 7 92734623 92734623 + Missense_Mutation SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 92734623 92734623 T G SNP SAMD9 ENST00000379958 human ensembl 74_37 -1 known missense c.788 p.H263P 0.263 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,superfamily_P-loop_NTPase,smart_SAM,pfscan_SAM - no_errors SAMD9 HGNC ENSG00000205413 tier1 - - 37 0 0.00 33 10 22.73 167 0 0.00 139 29 17.26 EIF2B3 0 genome.wustl.edu 37 1 45407283 45407283 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 45407283 45407283 C T SNP EIF2B3 ENST00000360403 human ensembl 74_37 -1 known missense c.349 p.V117I 1.000 pfam_NTP_transferase pfam_NTP_transferase - no_errors EIF2B3 HGNC ENSG00000070785 tier1 - - 48 0 0.00 36 6 14.29 110 0 0.00 99 34 25.56 SERPINB12 0 genome.wustl.edu 37 18 61233951 61233951 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 61233951 61233951 G A SNP SERPINB12 ENST00000269491 human ensembl 74_37 +1 known missense c.925 p.D309N 0.000 pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom - no_errors SERPINB12 HGNC ENSG00000166634 tier1 - - 59 0 0.00 37 4 9.76 114 0 0.00 78 16 16.84 CSMD3 0 genome.wustl.edu 37 8 113694743 113694743 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 113694743 113694743 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.2605 p.G869R 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 CSMD3 HGNC ENSG00000164796 tier1 - - 79 0 0.00 49 11 18.03 157 0 0.00 169 51 23.18 MEIS2 0 genome.wustl.edu 37 15 37242598 37242598 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 37242598 37242598 G A SNP MEIS2 ENST00000561208 human ensembl 74_37 -1 known missense c.904 p.P302S 1.000 pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom - no_errors MEIS2 HGNC ENSG00000134138 tier1 - - 70 0 0.00 19 7 26.92 131 0 0.00 104 24 18.75 OSBPL7 0 genome.wustl.edu 37 17 45891082 45891082 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 45891082 45891082 G A SNP OSBPL7 ENST00000007414 human ensembl 74_37 -1 known silent c.1470 p.D490 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL7 HGNC ENSG00000006025 tier1 - - 76 0 0.00 47 5 9.62 52 0 0.00 45 6 11.76 GUCA1C 0 genome.wustl.edu 37 3 108634967 108634967 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 108634967 108634967 C T SNP GUCA1C ENST00000393963 human ensembl 74_37 -1 known missense c.449 p.G150E 0.992 NULL pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom,prints_Recoverin - no_errors GUCA1C HGNC ENSG00000138472 tier1 - - 85 0 0.00 60 18 23.08 117 0 0.00 104 25 19.38 WNT7B 0 genome.wustl.edu 37 22 46345807 46345807 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 22 46345807 46345807 G A SNP WNT7B ENST00000339464 human ensembl 74_37 -1 known silent c.291 p.L97 1.000 pfam_Wnt,smart_Wnt pfam_Wnt,smart_Wnt,prints_Wnt,prints_Wnt7 - no_errors WNT7B HGNC ENSG00000188064 tier1 - - 47 0 0.00 14 5 26.32 13 0 0.00 17 2 10.53 SLC22A10 0 genome.wustl.edu 37 11 63057946 63057946 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 63057946 63057946 G A SNP SLC22A10 ENST00000332793 human ensembl 74_37 +1 known silent c.309 p.G103 0.000 NULL pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A10 HGNC ENSG00000184999 tier1 - - 64 0 0.00 26 10 27.78 97 0 0.00 109 22 16.79 HLA-DOA 0 genome.wustl.edu 37 6 32975875 32975875 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 32975875 32975875 C T SNP HLA-DOA ENST00000229829 human ensembl 74_37 -1 known silent c.246 p.P82 0.123 pfam_MHC_II_a_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors HLA-DOA HGNC ENSG00000204252 tier1 - - 103 0 0.00 40 20 33.33 52 0 0.00 41 13 24.07 CDR1 0 genome.wustl.edu 37 X 139866052 139866052 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 139866052 139866052 G A SNP CDR1 ENST00000370532 human ensembl 74_37 -1 known silent c.480 p.S160 0.000 NULL NULL - no_errors CDR1 HGNC ENSG00000184258 tier1 rs146276960 - 55 0 0.00 26 20 43.48 66 0 0.00 49 29 37.18 PAX4 0 genome.wustl.edu 37 7 127255454 127255454 + Splice_Site SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 127255454 127255454 C T SNP PAX4 ENST00000341640 human ensembl 74_37 -1 known splice_site c.120+1 e1+1 1.000 - - - no_errors PAX4 HGNC ENSG00000106331 tier1 - - 58 0 0.00 32 14 30.43 56 0 0.00 63 8 11.27 GDAP2 0 genome.wustl.edu 37 1 118462869 118462869 + Nonsense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 118462869 118462869 G A SNP GDAP2 ENST00000369443 human ensembl 74_37 -1 known nonsense c.112 p.Q38* 0.851 NULL pfam_Macro_dom,superfamily_CRAL-TRIO_dom,smart_Macro_dom,smart_CRAL-TRIO_dom,pfscan_Macro_dom - no_errors GDAP2 HGNC ENSG00000196505 tier1 - - 72 0 0.00 36 10 21.74 104 0 0.00 79 23 22.33 WDFY4 0 genome.wustl.edu 37 10 50098736 50098736 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 50098736 50098736 C T SNP WDFY4 ENST00000325239 human ensembl 74_37 +1 known missense c.7280 p.T2427M 0.279 NULL pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY4 HGNC ENSG00000128815 tier1 - - 53 0 0.00 15 8 34.78 94 1 1.05 70 23 24.73 MUC16 0 genome.wustl.edu 37 19 9086552 9086552 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 9086552 9086552 G A SNP MUC16 ENST00000397910 human ensembl 74_37 -1 known missense c.5263 p.P1755S 0.000 NULL pfam_SEA_dom,smart_SEA_dom,pfscan_SEA_dom - no_errors MUC16 HGNC ENSG00000181143 tier1 - - 40 0 0.00 33 10 23.26 122 0 0.00 102 25 19.69 TLE1 0 genome.wustl.edu 37 9 84230928 84230928 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 84230928 84230928 G A SNP TLE1 ENST00000376499 human ensembl 74_37 -1 known missense c.887 p.S296F 1.000 NULL pfam_Groucho/TLE_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Groucho_enhance - no_errors TLE1 HGNC ENSG00000196781 tier1 - - 39 0 0.00 24 5 17.24 106 0 0.00 82 21 20.39 SENP7 0 genome.wustl.edu 37 3 101083777 101083777 + Missense_Mutation SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 101083777 101083777 C G SNP SENP7 ENST00000394095 human ensembl 74_37 -1 known missense c.1377 p.K459N 0.607 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP7 HGNC ENSG00000138468 tier1 - - 59 0 0.00 19 8 29.63 150 0 0.00 134 31 18.79 COL9A3 0 genome.wustl.edu 37 20 61467646 61467646 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 61467646 61467646 C T SNP COL9A3 ENST00000343916 human ensembl 74_37 +1 known silent c.1509 p.V503 0.043 pfam_Collagen pfam_Collagen - no_errors COL9A3 HGNC ENSG00000092758 tier1 - - 67 0 0.00 28 13 31.71 82 0 0.00 70 18 20.45 EXTL3 0 genome.wustl.edu 37 8 28595072 28595072 + Missense_Mutation SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 28595072 28595072 C G SNP EXTL3 ENST00000220562 human ensembl 74_37 +1 known missense c.2313 p.F771L 1.000 pfam_Hexc_Trfase_a pfam_Hexc_Trfase_a,pfam_Exostosin - no_errors EXTL3 HGNC ENSG00000012232 tier1 - - 111 0 0.00 87 20 18.69 94 0 0.00 85 17 16.67 ZBBX 0 genome.wustl.edu 37 3 167000220 167000220 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 167000220 167000220 G A SNP ZBBX ENST00000307529 human ensembl 74_37 -1 known missense c.2060 p.S687F 0.006 NULL pfam_Znf_B-box - no_errors ZBBX HGNC ENSG00000169064 tier1 - - 76 0 0.00 31 10 24.39 135 0 0.00 98 25 20.33 ZNF613 0 genome.wustl.edu 37 19 52443921 52443921 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 52443921 52443921 C T SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.194 p.P65L 0.000 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 tier1 - - 53 0 0.00 35 6 14.63 98 0 0.00 79 14 15.05 GPR63 0 genome.wustl.edu 37 6 97247515 97247515 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 97247515 97247515 G A SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known silent c.93 p.L31 0.252 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 tier1 - - 80 0 0.00 35 13 27.08 119 0 0.00 72 15 17.05 ZFHX2 0 genome.wustl.edu 37 14 23994485 23994485 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 23994485 23994485 C T SNP ZFHX2 ENST00000419474 human ensembl 74_37 -1 known missense c.4666 p.E1556K 0.303 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2 - no_errors ZFHX2 HGNC ENSG00000136367 tier1 - - 69 0 0.00 53 14 20.90 48 0 0.00 46 15 24.19 GNE 0 genome.wustl.edu 37 9 36223481 36223481 + Missense_Mutation SNP A A T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 36223481 36223481 A T SNP GNE ENST00000396594 human ensembl 74_37 -1 known missense c.1393 p.Y465N 1.000 pfam_ROK pfam_UDP_Glcc_Epimerase_2,pfam_ROK,prints_Hexokinase,tigrfam_UDP-Glcc_Epase - no_errors GNE HGNC ENSG00000159921 tier1 - - 60 0 0.00 41 8 16.33 98 1 1.01 84 17 16.83 SLAIN1 0 genome.wustl.edu 37 13 78318545 78318545 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 78318545 78318545 C T SNP SLAIN1 ENST00000466548 human ensembl 74_37 +1 known silent c.828 p.I276 1.000 NULL NULL - no_errors SLAIN1 HGNC ENSG00000139737 tier1 - - 61 0 0.00 33 8 19.51 90 0 0.00 67 19 22.09 MMRN1 0 genome.wustl.edu 37 4 90874525 90874525 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 90874525 90874525 C T SNP MMRN1 ENST00000264790 human ensembl 74_37 +1 known missense c.3643 p.P1215S 1.000 pfam_C1q,superfamily_Tumour_necrosis_fac-like_dom,smart_C1q,pfscan_C1q pfam_C1q,pfam_EMI_domain,pfam_EG-like_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_C1q,prints_C1q,pfscan_C1q,pfscan_EG-like_dom,pfscan_EMI_domain - no_errors MMRN1 HGNC ENSG00000138722 tier1 - - 80 0 0.00 52 9 14.75 146 0 0.00 138 42 23.33 COL25A1 0 genome.wustl.edu 37 4 109753543 109753543 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 109753543 109753543 C T SNP COL25A1 ENST00000399132 human ensembl 74_37 -1 known missense c.1703 p.G568E 1.000 pfam_Collagen pfam_Collagen - no_errors COL25A1 HGNC ENSG00000188517 tier1 - - 48 0 0.00 27 5 15.62 107 0 0.00 98 26 20.97 MTL5 0 genome.wustl.edu 37 11 68478401 68478401 + Missense_Mutation SNP T T A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 68478401 68478401 T A SNP MTL5 ENST00000255087 human ensembl 74_37 -1 known missense c.1275 p.E425D 0.981 NULL pfam_CRC,superfamily_Thionin - no_errors MTL5 HGNC ENSG00000132749 tier1 - - 76 0 0.00 49 10 16.95 120 0 0.00 126 26 16.99 TP53 0 genome.wustl.edu 37 17 7577539 7577539 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 7577539 7577539 G A SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.742 p.R248W 1.000 pfam_p53_D-bd,superfamily_p53-like_TF_D-bd,prints_p53_tumour_suppressor pfam_p53_D-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_D-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor - no_errors TP53 HGNC ENSG00000141510 tier1 rs121912651 - 50 0 0.00 21 7 25.00 86 0 0.00 49 11 18.33 DUOX1 0 genome.wustl.edu 37 15 45457031 45457031 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 45457031 45457031 G A SNP DUOX1 ENST00000321429 human ensembl 74_37 +1 known missense c.4588 p.E1530K 1.000 pfam_Fe_red_D-bd_6 pfam_Haem_peroxidase_animal,pfam_Fe_red_D-bd_6,pfam_FAD-bd_8,pfam_Fe3_Rdtase_TM_dom,pfam_EF_hand_dom,superfamily_Haem_peroxidase,superfamily_Riboflavin_synthase-like_b-brl,smart_EF_hand_dom,prints_Haem_peroxidase_animal_subgr,prints_Recoverin,pfscan_EF_hand_dom,pfscan_Haem_peroxidase_animal - no_errors DUOX1 HGNC ENSG00000137857 tier1 - - 68 0 0.00 37 12 24.49 107 0 0.00 92 25 21.37 MPEG1 0 genome.wustl.edu 37 11 58978337 58978337 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 58978337 58978337 G A SNP MPEG1 ENST00000361050 human ensembl 74_37 -1 known silent c.2002 p.L668 0.081 NULL pfam_MACPF,smart_MACPF - no_errors MPEG1 HGNC ENSG00000197629 tier1 - - 33 0 0.00 24 7 22.58 88 0 0.00 94 27 22.31 LIPC 0 genome.wustl.edu 37 15 58837998 58837998 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 58837998 58837998 C T SNP LIPC ENST00000299022 human ensembl 74_37 +1 known missense c.632 p.P211L 1.000 pfam_Lipase_N,pirsf_Lipoprotein_lipase_LIPH pfam_Lipase_N,pfam_PLAT/LH2_dom,superfamily_Lipase_LipOase,smart_PLAT/LH2_dom,pirsf_Lipoprotein_lipase_LIPH,pfscan_PLAT/LH2_dom,prints_Lipase_hep,prints_Lipase,prints_Lipo_Lipase - no_errors LIPC HGNC ENSG00000166035 tier1 - - 59 0 0.00 38 15 28.30 119 0 0.00 86 39 31.20 HNF4A 0 genome.wustl.edu 37 20 43057040 43057040 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 43057040 43057040 G A SNP HNF4A ENST00000316099 human ensembl 74_37 +1 known missense c.1195 p.G399R 1.000 NULL pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_COUP_TF,prints_Retinoid-X_rcpt/HNF4 - no_errors HNF4A HGNC ENSG00000101076 tier1 - - 61 0 0.00 15 6 28.57 77 0 0.00 86 30 25.86 TTLL13 0 genome.wustl.edu 37 15 90799449 90799449 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 90799449 90799449 G A SNP TTLL13 ENST00000438251 human ensembl 74_37 +1 known missense c.625 p.G209R 1.000 pfam_TTL/TTLL_fam pfam_TTL/TTLL_fam - no_errors TTLL13 HGNC ENSG00000213471 tier1 - - 47 0 0.00 19 17 47.22 50 0 0.00 53 13 19.70 UNC13C 0 genome.wustl.edu 37 15 54305705 54305705 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 54305705 54305705 C T SNP UNC13C ENST00000260323 human ensembl 74_37 +1 known missense c.605 p.T202I 0.995 NULL pfam_Munc13_subgr_dom-2,pfam_Ca-dep_secretion_activator,pfam_C2_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_C2_dom,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom - no_errors UNC13C HGNC ENSG00000137766 tier1 - - 50 0 0.00 23 5 17.86 154 1 0.65 127 40 23.81 ARHGEF16 0 genome.wustl.edu 37 1 3397100 3397100 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 3397100 3397100 G A SNP ARHGEF16 ENST00000378378 human ensembl 74_37 +1 known silent c.2079 p.V693 1.000 NULL pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain - no_errors ARHGEF16 HGNC ENSG00000130762 tier1 - - 97 0 0.00 53 12 18.46 22 0 0.00 19 6 24.00 SYT9 0 genome.wustl.edu 37 11 7324340 7324340 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 7324340 7324340 C T SNP SYT9 ENST00000318881 human ensembl 74_37 +1 known silent c.216 p.F72 1.000 NULL pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_Synaptotagmin,prints_C2_dom - no_errors SYT9 HGNC ENSG00000170743 tier1 - - 49 0 0.00 28 6 17.65 105 0 0.00 58 15 20.55 CSMD3 0 genome.wustl.edu 37 8 113267509 113267509 + Missense_Mutation SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 113267509 113267509 C G SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.10010 p.W3337S 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 CSMD3 HGNC ENSG00000164796 tier1 - - 76 0 0.00 39 15 27.78 72 0 0.00 62 24 27.59 C16orf70 0 genome.wustl.edu 37 16 67174002 67174002 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 67174002 67174002 C T SNP C16orf70 ENST00000219139 human ensembl 74_37 +1 known silent c.777 p.F259 1.000 pfam_UPF0183 pfam_UPF0183 - no_errors C16orf70 HGNC ENSG00000125149 tier1 - - 82 0 0.00 55 9 14.06 90 0 0.00 90 11 10.89 CNTP5 0 genome.wustl.edu 37 2 125405445 125405445 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 125405445 125405445 G A SNP CNTP5 ENST00000431078 human ensembl 74_37 +1 known missense c.1984 p.E662K 1.000 NULL 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 CNTP5 HGNC ENSG00000155052 tier1 - - 45 0 0.00 23 4 14.29 43 0 0.00 38 9 18.75 PTPRZ1 0 genome.wustl.edu 37 7 121668615 121668615 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 121668615 121668615 C T SNP PTPRZ1 ENST00000393386 human ensembl 74_37 +1 known silent c.4998 p.F1666 1.000 NULL pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt - no_errors PTPRZ1 HGNC ENSG00000106278 tier1 - - 61 0 0.00 32 9 21.95 170 0 0.00 119 30 20.13 TECTA 0 genome.wustl.edu 37 11 121016457 121016457 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 121016457 121016457 G A SNP TECTA ENST00000264037 human ensembl 74_37 +1 known missense c.3737 p.G1246D 1.000 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 48 0 0.00 32 5 13.51 70 0 0.00 55 14 20.29 RYR1 0 genome.wustl.edu 37 19 39051805 39051805 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 39051805 39051805 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.12335 p.S4112L 0.999 NULL pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_MG_RAP_rcpt_1,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_MIR_motif - no_errors RYR1 HGNC ENSG00000196218 tier1 rs193922847 - 72 0 0.00 43 14 24.56 59 0 0.00 57 11 16.18 DAF1 0 genome.wustl.edu 37 16 84203832 84203832 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 84203832 84203832 G A SNP DAF1 ENST00000378553 human ensembl 74_37 +1 known silent c.1398 p.G466 0.858 NULL NULL - no_errors DAF1 HGNC ENSG00000154099 tier1 - - 146 0 0.00 93 9 8.82 101 0 0.00 56 10 15.15 CEACAM1 0 genome.wustl.edu 37 19 43031473 43031473 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 43031473 43031473 C T SNP CEACAM1 ENST00000161559 human ensembl 74_37 -1 known silent c.144 p.G48 0.002 pfam_Ig_V-set,smart_Ig_sub pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors CEACAM1 HGNC ENSG00000079385 tier1 - - 118 0 0.00 65 16 19.75 67 0 0.00 49 10 16.95 FLJ46361 0 genome.wustl.edu 37 10 124516506 124516506 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 124516506 124516506 G A SNP FLJ46361 ENST00000439464 human ensembl 74_37 +1 known rna NULL NULL 0.156 - - - no_errors RP11-318C4.2 Clone_based_vega_gene ENSG00000176584 tier1 - - 39 0 0.00 22 13 37.14 54 0 0.00 37 11 22.92 GPR97 0 genome.wustl.edu 37 16 57719754 57719754 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 57719754 57719754 G C SNP GPR97 ENST00000333493 human ensembl 74_37 +1 known missense c.1456 p.V486L 0.999 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like pfam_GPCR_2_secretin-like,pfam_GPS_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_orphan_rcpt_GPR56 - no_errors GPR97 HGNC ENSG00000182885 tier1 - - 56 0 0.00 35 13 27.08 94 0 0.00 53 20 27.03 ALG10 0 genome.wustl.edu 37 12 34179346 34179346 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 34179346 34179346 C T SNP ALG10 ENST00000266483 human ensembl 74_37 +1 known silent c.918 p.L306 0.938 pfam_Alg10,pirsf_Alg10 pfam_Alg10,pirsf_Alg10 - no_errors ALG10 HGNC ENSG00000139133 tier1 - - 62 0 0.00 47 7 12.96 108 0 0.00 85 21 19.81 GPR116 0 genome.wustl.edu 37 6 46830777 46830777 + Missense_Mutation SNP T T C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 46830777 46830777 T C SNP GPR116 ENST00000265417 human ensembl 74_37 -1 known missense c.2047 p.I683V 0.987 prints_GPCR_2_Ig-hepta_rcpt pfam_GPCR_2_secretin-like,pfam_SEA_dom,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like_dom,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like - no_errors GPR116 HGNC ENSG00000069122 tier1 - - 46 0 0.00 30 4 11.76 121 0 0.00 65 24 26.67 PDE4B 0 genome.wustl.edu 37 1 66723501 66723501 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 66723501 66723501 G A SNP PDE4B ENST00000329654 human ensembl 74_37 +1 known missense c.539 p.R180K 1.000 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom,prints_PDEase - no_errors PDE4B HGNC ENSG00000184588 tier1 - - 45 0 0.00 31 10 24.39 144 0 0.00 127 32 20.13 PTPN5 0 genome.wustl.edu 37 11 18759455 18759455 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 18759455 18759455 C T SNP PTPN5 ENST00000358540 human ensembl 74_37 -1 known silent c.972 p.R324 0.992 pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pirsf_Tyr_Pase_rcpt_R/non-rcpt_5,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_KIM-con,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN5 HGNC ENSG00000110786 tier1 - - 94 0 0.00 38 7 15.56 125 0 0.00 131 25 16.03 PRIMPOL 0 genome.wustl.edu 37 4 185599481 185599481 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 185599481 185599481 C T SNP PRIMPOL ENST00000314970 human ensembl 74_37 +1 known missense c.940 p.P314S 0.921 NULL pfam_D_primase_UL52/UL70_Herpvir,pfam_D_primase_S - no_errors PRIMPOL HGNC ENSG00000164306 tier1 - - 47 0 0.00 26 10 27.78 139 0 0.00 110 32 22.54 CADM3 0 genome.wustl.edu 37 1 159163736 159163736 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 159163736 159163736 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known silent c.699 p.T233 0.990 pfam_CD80_C2-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 tier1 - - 66 0 0.00 29 10 25.64 84 0 0.00 85 22 20.56 KIF24 0 genome.wustl.edu 37 9 34255997 34255997 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 34255997 34255997 C T SNP KIF24 ENST00000379166 human ensembl 74_37 -1 known missense c.3608 p.G1203E 0.010 NULL pfam_Kinesin_motor_dom,pfam_SAM_type1,superfamily_P-loop_NTPase,superfamily_SAM/pointed,smart_Kinesin_motor_dom,pfscan_SAM,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom - no_errors KIF24 HGNC ENSG00000186638 tier1 - - 46 0 0.00 35 15 30.00 111 0 0.00 128 26 16.88 LMO7 0 genome.wustl.edu 37 13 76374987 76374987 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 76374987 76374987 C T SNP LMO7 ENST00000357063 human ensembl 74_37 +1 known silent c.786 p.S262 1.000 NULL pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin - no_errors LMO7 HGNC ENSG00000136153 tier1 - - 72 0 0.00 37 11 22.92 83 0 0.00 61 11 15.28 CHRNB4 0 genome.wustl.edu 37 15 78917389 78917389 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 78917389 78917389 G A SNP CHRNB4 ENST00000412074 human ensembl 74_37 -1 putative silent c.604 p.L202 0.093 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 - - 73 0 0.00 42 13 23.64 85 0 0.00 65 33 33.67 LOC400794 0 genome.wustl.edu 37 1 165551316 165551316 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 165551316 165551316 C T SNP LOC400794 ENST00000416424 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-280O1.2 Clone_based_vega_gene ENSG00000237463 tier1 - - 110 0 0.00 59 11 15.71 23 0 0.00 30 6 16.67 ENSG00000261759 0 genome.wustl.edu 37 16 19132639 19132639 + R SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 19132639 19132639 T G SNP ENSG00000261759 ENST00000567236 human ensembl 74_37 -1 known rna NULL NULL 1.000 - - - no_errors RP11-626G11.3 Clone_based_vega_gene ENSG00000261759 tier1 - - 79 0 0.00 31 10 24.39 100 0 0.00 88 39 30.71 CRY1 0 genome.wustl.edu 37 12 107393622 107393622 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 107393622 107393622 G A SNP CRY1 ENST00000008527 human ensembl 74_37 -1 known missense c.844 p.P282S 1.000 pfam_Photolyase_FAD-bd/Cryptochr_C,superfamily_Photolyase_FAD-bd/Cryptochr_C pfam_Photolyase_FAD-bd/Cryptochr_C,pfam_D_photolyase_N,superfamily_Photolyase_FAD-bd/Cryptochr_C,superfamily_D_photolyase_N - no_errors CRY1 HGNC ENSG00000008405 tier1 - - 74 0 0.00 34 7 16.28 174 0 0.00 128 15 10.49 BTBD8 0 genome.wustl.edu 37 1 92554330 92554330 + Silent SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 92554330 92554330 C G SNP BTBD8 ENST00000342818 human ensembl 74_37 +1 known silent c.225 p.V75 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like - no_errors BTBD8 HGNC ENSG00000189195 tier1 - - 114 0 0.00 84 15 15.15 163 0 0.00 107 20 15.62 COL11A2 0 genome.wustl.edu 37 6 33130539 33130539 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 33130539 33130539 C T SNP COL11A2 ENST00000477772 human ensembl 74_37 -1 known rna NULL NULL 0.360 - - - no_errors COL11A2 HGNC ENSG00000204248 tier1 - - 55 0 0.00 24 12 33.33 90 0 0.00 54 15 21.74 CHRNB4 0 genome.wustl.edu 37 15 78917390 78917390 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 78917390 78917390 G A SNP CHRNB4 ENST00000412074 human ensembl 74_37 -1 putative silent c.603 p.A201 0.120 NULL pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel - no_errors CHRNB4 HGNC ENSG00000117971 tier1 - - 72 0 0.00 41 12 22.64 85 0 0.00 66 32 32.65 HMCN1 0 genome.wustl.edu 37 1 186106679 186106679 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 186106679 186106679 C T SNP HMCN1 ENST00000271588 human ensembl 74_37 +1 known silent c.13632 p.T4544 1.000 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom - no_errors HMCN1 HGNC ENSG00000143341 tier1 - - 50 0 0.00 43 9 17.31 160 0 0.00 107 39 26.71 ITPR3 0 genome.wustl.edu 37 6 33630709 33630709 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 33630709 33630709 C T SNP ITPR3 ENST00000374316 human ensembl 74_37 +1 known missense c.880 p.R294C 1.000 pfam_MIR_motif,superfamily_MIR_motif,prints_InsP3_rcpt-bd pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR3 HGNC ENSG00000096433 tier1 - - 45 0 0.00 9 6 37.50 50 1 1.96 25 4 13.79 BDH2 0 genome.wustl.edu 37 4 104006543 104006543 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 104006543 104006543 G A SNP BDH2 ENST00000296424 human ensembl 74_37 -1 known silent c.495 p.F165 1.000 prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DHB_DH,prints_DH_sc/Rdtase_SDR,prints_ADH_insect - no_errors BDH2 HGNC ENSG00000164039 tier1 - - 74 0 0.00 22 15 40.54 27 0 0.00 16 4 20.00 PCDHA9 0 genome.wustl.edu 37 5 140230348 140230348 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 140230348 140230348 G A SNP PCDHA9 ENST00000532602 human ensembl 74_37 +1 known silent c.2268 p.Q756 0.945 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA9 HGNC ENSG00000204961 tier1 - - 64 0 0.00 33 6 15.38 42 0 0.00 22 3 12.00 GJB2 0 genome.wustl.edu 37 13 20763342 20763342 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 20763342 20763342 G A SNP GJB2 ENST00000382844 human ensembl 74_37 -1 known missense c.379 p.R127C 0.995 NULL pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin,prints_Connexin26 - no_errors GJB2 HGNC ENSG00000165474 tier1 - - 33 0 0.00 7 3 30.00 88 0 0.00 92 19 17.12 WDR59 0 genome.wustl.edu 37 16 74983665 74983665 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 74983665 74983665 G A SNP WDR59 ENST00000262144 human ensembl 74_37 -1 known missense c.358 p.L120F 0.999 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR59 HGNC ENSG00000103091 tier1 - - 72 0 0.00 32 9 21.95 162 0 0.00 81 35 30.17 MCTP1 0 genome.wustl.edu 37 5 94224612 94224612 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 94224612 94224612 C T SNP MCTP1 ENST00000515393 human ensembl 74_37 -1 known silent c.1905 p.A635 0.905 pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom pfam_C2_dom,pfam_PRibTrfase_C,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom,prints_C2_dom - no_errors MCTP1 HGNC ENSG00000175471 tier1 - - 71 0 0.00 37 5 11.90 150 0 0.00 123 36 22.64 MURC 0 genome.wustl.edu 37 9 103348640 103348640 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 103348640 103348640 C T SNP MURC ENST00000307584 human ensembl 74_37 +1 known silent c.1002 p.I334 0.000 NULL NULL - no_errors MURC HGNC ENSG00000170681 tier1 - - 81 0 0.00 38 10 20.83 133 0 0.00 100 15 13.04 ZC3H15 0 genome.wustl.edu 37 2 187368862 187368862 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 187368862 187368862 C T SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known missense c.638 p.P213L 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 tier1 - - 59 0 0.00 50 12 19.35 52 0 0.00 56 19 25.33 MYH2 0 genome.wustl.edu 37 17 10448734 10448734 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 10448734 10448734 C T SNP MYH2 ENST00000245503 human ensembl 74_37 -1 known missense c.434 p.G145D 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_P-loop_NTPase,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SRE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYH2 HGNC ENSG00000125414 tier1 - - 157 0 0.00 54 16 22.86 22 0 0.00 22 3 12.00 FAM87A 0 genome.wustl.edu 37 8 327878 327878 + R SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 327878 327878 C G SNP FAM87A ENST00000330148 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FAM87A HGNC ENSG00000182366 tier1 - - 134 0 0.00 74 12 13.95 119 0 0.00 147 40 21.39 STK32B 0 genome.wustl.edu 37 4 5448438 5448438 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 5448438 5448438 G A SNP STK32B ENST00000282908 human ensembl 74_37 +1 known missense c.601 p.G201R 0.986 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 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 STK32B HGNC ENSG00000152953 tier1 - - 90 0 0.00 46 11 19.30 67 0 0.00 79 10 11.11 E2F4 0 genome.wustl.edu 37 16 67228596 67228596 + Missense_Mutation SNP A A T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 67228596 67228596 A T SNP E2F4 ENST00000379378 human ensembl 74_37 +1 known missense c.521 p.N174I 1.000 NULL pfam_E2F_TDP - no_errors E2F4 HGNC ENSG00000205250 tier1 - - 38 0 0.00 28 4 12.50 104 1 0.95 70 23 24.73 SIGLEC10 0 genome.wustl.edu 37 19 51919600 51919600 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 51919600 51919600 C T SNP SIGLEC10 ENST00000339313 human ensembl 74_37 -1 known missense c.718 p.D240N 0.004 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors SIGLEC10 HGNC ENSG00000142512 tier1 - - 334 0 0.00 160 57 26.27 39 0 0.00 35 8 18.60 PAOX 0 genome.wustl.edu 37 10 135197628 135197628 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 135197628 135197628 G A SNP PAOX ENST00000278060 human ensembl 74_37 +1 known missense c.1033 p.D345N 1.000 pfam_Amino_oxidase pfam_Amino_oxidase - no_errors PAOX HGNC ENSG00000148832 tier1 - - 53 0 0.00 26 8 23.53 57 0 0.00 28 5 15.15 LOC101928401 0 genome.wustl.edu 37 7 56604444 56604444 + R SNP T T A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 56604444 56604444 T A SNP LOC101928401 ENST00000429367 human ensembl 74_37 -1 known rna NULL NULL 0.255 - - - no_errors RP11-760D2.5 Clone_based_vega_gene ENSG00000233288 tier1 - - 8 0 0.00 4 6 60.00 83 0 0.00 78 19 19.59 OSBPL6 0 genome.wustl.edu 37 2 179260225 179260225 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 179260225 179260225 C T SNP OSBPL6 ENST00000315022 human ensembl 74_37 +1 known missense c.2756 p.T919I 1.000 pfam_Oxysterol-bd pfam_Oxysterol-bd,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology - no_errors OSBPL6 HGNC ENSG00000079156 tier1 - - 117 0 0.00 59 10 14.49 139 0 0.00 147 21 12.50 OR11H6 0 genome.wustl.edu 37 14 20692781 20692781 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 20692781 20692781 C T SNP OR11H6 ENST00000315519 human ensembl 74_37 +1 known missense c.913 p.P305S 0.999 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR11H6 HGNC ENSG00000176219 tier1 - - 48 0 0.00 26 9 25.71 137 0 0.00 128 37 22.42 ABL1 0 genome.wustl.edu 37 9 133750394 133750394 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 133750394 133750394 G A SNP ABL1 ENST00000372348 human ensembl 74_37 +1 known missense c.1282 p.E428K 1.000 pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom pfam_F-actin_binding,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH2,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_F-actin_binding,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2 - no_errors ABL1 HGNC ENSG00000097007 tier1 - - 86 0 0.00 52 10 15.87 105 0 0.00 94 26 21.67 TMEM183A 0 genome.wustl.edu 37 1 202984051 202984051 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 202984051 202984051 C T SNP TMEM183A ENST00000367242 human ensembl 74_37 +1 known silent c.402 p.P134 1.000 superfamily_F-box_dom superfamily_F-box_dom - no_errors TMEM183A HGNC ENSG00000163444 tier1 - - 92 0 0.00 43 18 29.51 17 0 0.00 33 6 15.38 MMD 0 genome.wustl.edu 37 17 53488776 53488776 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 17 53488776 53488776 G A SNP MMD ENST00000262065 human ensembl 74_37 -1 known silent c.111 p.F37 1.000 pfam_HlyIII-related,tigrfam_HylIII pfam_HlyIII-related,tigrfam_HylIII - no_errors MMD HGNC ENSG00000108960 tier1 - - 65 0 0.00 36 12 25.00 137 0 0.00 111 23 17.16 LYST 0 genome.wustl.edu 37 1 235929493 235929493 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 235929493 235929493 G A SNP LYST ENST00000389793 human ensembl 74_37 -1 known missense c.6007 p.P2003S 1.000 superfamily_ARM-type_fold pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors LYST HGNC ENSG00000143669 tier1 - - 41 0 0.00 29 4 12.12 100 0 0.00 89 30 25.00 MURC 0 genome.wustl.edu 37 9 103348641 103348641 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 9 103348641 103348641 C T SNP MURC ENST00000307584 human ensembl 74_37 +1 known missense c.1003 p.P335S 0.000 NULL NULL - no_errors MURC HGNC ENSG00000170681 tier1 - - 83 0 0.00 38 10 20.83 132 0 0.00 100 15 13.04 PIM2 0 genome.wustl.edu 37 X 48771445 48771445 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 48771445 48771445 C T SNP PIM2 ENST00000376509 human ensembl 74_37 -1 known missense c.899 p.G300E 0.074 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors PIM2 HGNC ENSG00000102096 tier1 - - 93 0 0.00 25 34 57.63 47 0 0.00 29 20 40.82 ZNF264 0 genome.wustl.edu 37 19 57705380 57705380 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 57705380 57705380 C T SNP ZNF264 ENST00000599653 human ensembl 74_37 +1 putative silent c.171 p.F57 0.000 superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box - no_errors ZNF264 HGNC ENSG00000083844 tier1 - - 97 0 0.00 55 17 23.61 70 0 0.00 65 14 17.72 ZC3H15 0 genome.wustl.edu 37 2 187368861 187368861 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 187368861 187368861 C T SNP ZC3H15 ENST00000337859 human ensembl 74_37 +1 known missense c.637 p.P213S 1.000 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H15 HGNC ENSG00000065548 tier1 - - 58 0 0.00 50 12 19.35 52 0 0.00 56 19 25.33 DJC10 0 genome.wustl.edu 37 2 183616419 183616419 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 183616419 183616419 C T SNP DJC10 ENST00000264065 human ensembl 74_37 +1 known silent c.1341 p.A447 1.000 superfamily_Thioredoxin-like_fold,pirsf_DnaJ_homolog_subfam-C pfam_Thioredoxin_domain,pfam_DnaJ_domain,superfamily_Thioredoxin-like_fold,superfamily_DnaJ_domain,smart_DnaJ_domain,pirsf_DnaJ_homolog_subfam-C,pfscan_DnaJ_domain,prints_DnaJ_domain,prints_Thioredoxin - no_errors DJC10 HGNC ENSG00000077232 tier1 - - 92 0 0.00 51 7 12.07 135 1 0.74 129 28 17.83 DDX21 0 genome.wustl.edu 37 10 70719688 70719688 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 70719688 70719688 C T SNP DDX21 ENST00000354185 human ensembl 74_37 +1 known missense c.214 p.P72S 0.999 NULL pfam_D/R_helicase_DEAD/DEAH_N,pfam_GUCT,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors DDX21 HGNC ENSG00000165732 tier1 - - 58 0 0.00 24 6 20.00 162 0 0.00 81 31 27.68 CSMD1 0 genome.wustl.edu 37 8 2820869 2820869 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 2820869 2820869 C T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.9332 p.G3111E 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 - - 39 0 0.00 20 6 23.08 79 0 0.00 68 18 20.69 COL7A1 0 genome.wustl.edu 37 3 48626427 48626427 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 48626427 48626427 G A SNP COL7A1 ENST00000328333 human ensembl 74_37 -1 known silent c.2316 p.A772 1.000 superfamily_Fibronectin_type3 pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m - no_errors COL7A1 HGNC ENSG00000114270 tier1 - - 30 0 0.00 15 4 21.05 72 0 0.00 55 12 17.91 RUNX1T1 0 genome.wustl.edu 37 8 93017458 93017458 + Missense_Mutation SNP T T A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 93017458 93017458 T A SNP RUNX1T1 ENST00000436581 human ensembl 74_37 -1 known missense c.659 p.Q220L 1.000 pfam_TAFH_NHR1,smart_TAFH_NHR1,pfscan_TAFH_NHR1,prints_ETO pfam_NHR2,pfam_TAFH_NHR1,pfam_Znf_MYND,smart_TAFH_NHR1,pfscan_TAFH_NHR1,pfscan_Znf_MYND,prints_ETO,prints_MTG8 - no_errors RUNX1T1 HGNC ENSG00000079102 tier1 - - 26 0 0.00 10 3 23.08 49 0 0.00 49 8 14.04 LINC00617 0 genome.wustl.edu 37 14 96389338 96389338 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 96389338 96389338 C T SNP LINC00617 ENST00000503525 human ensembl 74_37 +1 known rna NULL NULL 0.646 - - - no_errors LINC00617 HGNC ENSG00000250366 tier1 - - 19 0 0.00 8 7 46.67 91 0 0.00 81 13 13.83 FBN2 0 genome.wustl.edu 37 5 127627260 127627260 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 127627260 127627260 G A SNP FBN2 ENST00000262464 human ensembl 74_37 -1 known missense c.6253 p.P2085S 0.964 pirsf_FBN,pfam_EGF-like_Ca-bd_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom pirsf_FBN,pfam_EGF-like_Ca-bd_dom,pfam_EG-like_dom,pfam_TB_dom,superfamily_TB_dom,superfamily_Cadherin-like,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom - no_errors FBN2 HGNC ENSG00000138829 tier1 - - 45 0 0.00 41 11 21.15 120 1 0.83 91 27 22.88 CASP8AP2 0 genome.wustl.edu 37 6 90576756 90576756 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 90576756 90576756 C T SNP CASP8AP2 ENST00000237177 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CASP8AP2 HGNC ENSG00000118412 tier1 - - 25 0 0.00 10 8 44.44 39 0 0.00 34 5 12.82 GPR63 0 genome.wustl.edu 37 6 97247514 97247514 + Missense_Mutation SNP G G C TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 97247514 97247514 G C SNP GPR63 ENST00000229955 human ensembl 74_37 -1 known missense c.94 p.P32A 0.895 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR63 HGNC ENSG00000112218 tier1 - - 79 0 0.00 34 13 27.66 121 1 0.82 74 16 17.78 PRG4 0 genome.wustl.edu 37 1 186281401 186281401 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 186281401 186281401 G A SNP PRG4 ENST00000445192 human ensembl 74_37 +1 known silent c.3888 p.T1296 0.000 superfamily_Hemopexin-like_dom pfam_Somatomedin_B_dom,pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Somatomedin_B_dom,smart_Hemopexin-like_repeat,prints_Somatomedin_B_chordata,pfscan_Somatomedin_B_dom - no_errors PRG4 HGNC ENSG00000116690 tier1 - - 95 0 0.00 54 14 20.29 131 0 0.00 117 28 19.31 ZNF385D 0 genome.wustl.edu 37 3 21706429 21706429 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 21706429 21706429 G A SNP ZNF385D ENST00000281523 human ensembl 74_37 -1 known silent c.114 p.P38 0.767 NULL pfam_Znf_C2H2_jaz,smart_Znf_U1,smart_Znf_C2H2-like - no_errors ZNF385D HGNC ENSG00000151789 tier1 - - 92 0 0.00 38 12 24.00 75 0 0.00 70 19 21.35 CAPN3 0 genome.wustl.edu 37 15 42678475 42678475 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 42678475 42678475 C T SNP CAPN3 ENST00000397163 human ensembl 74_37 +1 known missense c.490 p.H164Y 1.000 pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_EF_hand_dom,pfscan_EF_hand_dom,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease - no_errors CAPN3 HGNC ENSG00000092529 tier1 - - 42 0 0.00 31 12 27.91 81 0 0.00 104 19 15.45 MUC5B 0 genome.wustl.edu 37 11 1270733 1270733 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 1270733 1270733 G A SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known missense c.12632 p.G4211E 0.096 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 96 0 0.00 59 8 11.94 70 1 1.41 61 15 19.74 GRB14 0 genome.wustl.edu 37 2 165365038 165365038 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 165365038 165365038 C T SNP GRB14 ENST00000263915 human ensembl 74_37 -1 known missense c.950 p.R317Q 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_BPS-dom,pfam_SH2,pfam_Ras-assoc,pfam_Pleckstrin_homology,smart_Ras-assoc,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SH2,prints_SH2 - no_errors GRB14 HGNC ENSG00000115290 tier1 - - 32 0 0.00 15 5 25.00 93 0 0.00 89 34 27.42 ZNF613 0 genome.wustl.edu 37 19 52443920 52443920 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 52443920 52443920 C T SNP ZNF613 ENST00000293471 human ensembl 74_37 +1 known missense c.193 p.P65S 0.002 smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF613 HGNC ENSG00000176024 tier1 - - 53 0 0.00 35 6 14.63 96 0 0.00 78 14 14.89 RB1 0 genome.wustl.edu 37 13 49039374 49039374 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 49039374 49039374 C T SNP RB1 ENST00000267163 human ensembl 74_37 +1 known nonsense c.2359 p.R787* 1.000 pfam_RB_C pfam_RB_C,pfam_RB_A,pfam_RB_B,pfam_RB_N,superfamily_Cyclin-like,smart_Cyclin-like - no_errors RB1 HGNC ENSG00000139687 tier1 rs137853293 - 69 0 0.00 33 6 15.38 200 0 0.00 157 32 16.84 CASC5 0 genome.wustl.edu 37 15 40913904 40913904 + Missense_Mutation SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 40913904 40913904 A G SNP CASC5 ENST00000346991 human ensembl 74_37 +1 known missense c.1520 p.E507G 0.991 NULL NULL - no_errors CASC5 HGNC ENSG00000137812 tier1 - - 43 0 0.00 25 6 19.35 112 0 0.00 88 23 20.72 ACSM4 0 genome.wustl.edu 37 12 7459150 7459150 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 7459150 7459150 C T SNP ACSM4 ENST00000399422 human ensembl 74_37 +1 novel missense c.223 p.P75S 1.000 NULL pfam_AMP-dep_Synth/Lig - no_errors ACSM4 HGNC ENSG00000215009 tier1 - - 106 0 0.00 44 14 24.14 102 0 0.00 65 17 20.73 DENND2A 0 genome.wustl.edu 37 7 140273686 140273686 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 140273686 140273686 G A SNP DENND2A ENST00000275884 human ensembl 74_37 -1 known silent c.1368 p.S456 0.990 NULL pfam_DENN_dom,pfam_uDENN_dom,pfam_dDENN_dom,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom - no_errors DENND2A HGNC ENSG00000146966 tier1 - - 100 0 0.00 74 22 22.92 135 0 0.00 139 31 18.24 SLC22A24 0 genome.wustl.edu 37 11 62849038 62849038 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 62849038 62849038 G A SNP SLC22A24 ENST00000417740 human ensembl 74_37 -1 putative silent c.1386 p.T462 0.004 pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC22A24 HGNC ENSG00000197658 tier1 - - 68 0 0.00 25 8 24.24 131 0 0.00 107 17 13.71 LAMB1 0 genome.wustl.edu 37 7 107626666 107626666 + Missense_Mutation SNP A A T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 107626666 107626666 A T SNP LAMB1 ENST00000222399 human ensembl 74_37 -1 known missense c.566 p.I189N 1.000 pfam_Laminin_N,smart_Laminin_N,pfscan_Laminin_N pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SRE,superfamily_P-loop_NTPase,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N - no_errors LAMB1 HGNC ENSG00000091136 tier1 - - 81 0 0.00 26 14 35.00 142 0 0.00 134 30 18.29 CHL1 0 genome.wustl.edu 37 3 419527 419527 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 419527 419527 C T SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.1778 p.T593I 0.996 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 43 0 0.00 20 8 28.57 110 0 0.00 73 25 25.51 OR2A14 0 genome.wustl.edu 37 7 143826735 143826736 + Frame_Shift_Del DEL TC TC - TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 TC TC TC - TC TC Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 143826735 143826736 TC - DEL OR2A14 ENST00000408899 human ensembl 74_37 +1 known frame_shift_del c.530_531 p.F177fs 1.000:1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2A14 HGNC ENSG00000221938 tier1 57 0 0.00 42 6 12.50 19 0 0.00 17 4 19.05 C20orf196 0 genome.wustl.edu 37 20 5843685 5843686 + Frame_Shift_Del DEL AT AT - TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 AT AT AT - AT AT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 5843685 5843686 AT - DEL C20orf196 ENST00000303142 human ensembl 74_37 +1 known frame_shift_del c.194_195 p.I66fs 0.004:0.003 NULL NULL - no_errors C20orf196 HGNC ENSG00000171984 tier1 28 0 0.00 26 7 21.21 84 0 0.00 103 16 13.45 LEO1 0 genome.wustl.edu 37 15 52246731 52246731 + Frame_Shift_Del DEL T T - TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 52246731 52246731 T - DEL LEO1 ENST00000299601 human ensembl 74_37 -1 known frame_shift_del c.1287 p.G430fs 1.000 pfam_Leo1 pfam_Leo1 - no_errors LEO1 HGNC ENSG00000166477 tier1 42 0 0.00 23 4 14.81 76 0 0.00 68 18 20.93 ADCK5 0 genome.wustl.edu 37 8 145616875 145616875 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 145616875 145616875 C T SNP ADCK5 ENST00000308860 human ensembl 74_37 +1 known silent c.894 p.V298 0.074 pfam_UbiB_dom,superfamily_Kinase-like_dom pfam_UbiB_dom,superfamily_Kinase-like_dom - no_errors ADCK5 HGNC ENSG00000173137 tier1 - - 33 0 0.00 18 4 18.18 18 0 0.00 9 7 43.75 CREBZF 0 genome.wustl.edu 37 11 85375532 85375532 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 85375532 85375532 G A SNP CREBZF ENST00000525639 human ensembl 74_37 -1 known missense c.388 p.L130F 0.998 NULL pfam_bZIP - no_errors CREBZF HGNC ENSG00000137504 tier1 - - 68 0 0.00 31 6 16.22 15 0 0.00 7 3 30.00 DRP2 0 genome.wustl.edu 37 X 100513530 100513530 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 100513530 100513530 C T SNP DRP2 ENST00000395209 human ensembl 74_37 +1 known silent c.2623 p.L875 1.000 pirsf_Dystrophin-related_2 pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,pfam_Spectrin_repeat,pfam_WW_dom,superfamily_WW_dom,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin-related_2,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DRP2 HGNC ENSG00000102385 tier1 - - 29 0 0.00 9 8 47.06 8 0 0.00 9 7 43.75 ENSG00000237265 0 genome.wustl.edu 37 X 70884068 70884068 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 70884068 70884068 G A SNP ENSG00000237265 ENST00000422194 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-402P6.9 Clone_based_vega_gene ENSG00000237265 tier1 - - 93 0 0.00 41 34 45.33 6 0 0.00 6 8 57.14 ENSG00000237265 0 genome.wustl.edu 37 X 70884069 70884069 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 70884069 70884069 G A SNP ENSG00000237265 ENST00000422194 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RP11-402P6.9 Clone_based_vega_gene ENSG00000237265 tier1 - - 93 0 0.00 41 35 46.05 8 0 0.00 6 8 57.14 ENSG00000265002 0 genome.wustl.edu 37 15 20563401 20563401 + R SNP C C G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 20563401 20563401 C G SNP ENSG00000265002 ENST00000581090 human ensembl 74_37 +1 novel rna NULL NULL 0.068 - - - no_errors AC026495.1 Clone_based_ensembl_gene ENSG00000265002 tier1 - - 51 0 0.00 39 7 15.22 10 0 0.00 4 3 42.86 ENSG00000265002 0 genome.wustl.edu 37 15 20563402 20563402 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 20563402 20563402 C T SNP ENSG00000265002 ENST00000581090 human ensembl 74_37 +1 novel rna NULL NULL 0.067 - - - no_errors AC026495.1 Clone_based_ensembl_gene ENSG00000265002 tier1 - - 49 0 0.00 38 7 15.56 11 0 0.00 4 3 42.86 ENSG00000271959 0 genome.wustl.edu 37 8 142447003 142447003 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 142447003 142447003 C T SNP ENSG00000271959 ENST00000606664 human ensembl 74_37 +1 known rna NULL NULL 0.035 - - - no_errors CTD-3064M3.7 Clone_based_vega_gene ENSG00000271959 tier1 - - 19 0 0.00 13 7 35.00 15 0 0.00 7 2 22.22 ENSG00000271959 0 genome.wustl.edu 37 8 142447004 142447004 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 8 142447004 142447004 C T SNP ENSG00000271959 ENST00000606664 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CTD-3064M3.7 Clone_based_vega_gene ENSG00000271959 tier1 - - 19 0 0.00 12 7 36.84 15 0 0.00 8 2 20.00 LOXL3 0 genome.wustl.edu 37 2 74776523 74776523 + Missense_Mutation SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 74776523 74776523 T G SNP LOXL3 ENST00000264094 human ensembl 74_37 -1 known missense c.665 p.E222A 0.996 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_Lysyl_oxidase,pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR,prints_Lysyl_oxidase,prints_SRCR - no_errors LOXL3 HGNC ENSG00000115318 tier1 - - 101 0 0.00 51 7 12.07 13 0 0.00 8 3 27.27 PTMAP5 0 genome.wustl.edu 37 13 82264753 82264753 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 82264753 82264753 G A SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 - - 89 0 0.00 33 9 21.43 11 0 0.00 4 2 33.33 PTMAP5 0 genome.wustl.edu 37 13 82264754 82264754 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 82264754 82264754 G A SNP PTMAP5 ENST00000607242 human ensembl 74_37 +1 known rna NULL NULL 0.996 - - - no_errors PTMAP5 HGNC ENSG00000214182 tier1 - - 89 0 0.00 35 9 20.45 10 0 0.00 4 2 33.33 SPANXC 0 genome.wustl.edu 37 X 140336558 140336558 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 140336558 140336558 C T SNP SPANXC ENST00000358993 human ensembl 74_37 -1 known silent c.33 p.K11 0.001 pfam_SPANX_prot pfam_SPANX_prot - no_errors SPANXC HGNC ENSG00000198573 tier1 - - 187 0 0.00 70 48 40.68 23 0 0.00 9 9 50.00 SUMF1 0 genome.wustl.edu 37 3 4452607 4452607 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 4452607 4452607 C T SNP SUMF1 ENST00000448413 human ensembl 74_37 -1 known nonsense c.896 p.W299* 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 tier1 - - 53 0 0.00 39 6 13.33 163 0 0.00 159 15 8.62 IBA57 0 genome.wustl.edu 37 1 228362718 228362718 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 228362718 228362718 C T SNP IBA57 ENST00000366711 human ensembl 74_37 +1 known nonsense c.667 p.R223* 1.000 pfam_GCV_T_N,tigrfam_YgfZ/GcvT_CS pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC ENSG00000181873 tier1 - - 72 0 0.00 40 13 24.53 31 0 0.00 41 4 8.89 NPHP1 0 genome.wustl.edu 37 2 110917745 110917745 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 110917745 110917745 G A SNP NPHP1 ENST00000316534 human ensembl 74_37 -1 known missense c.1210 p.L404F 0.987 NULL pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain - no_errors NPHP1 HGNC ENSG00000144061 tier1 - - 90 0 0.00 49 11 18.33 115 0 0.00 76 8 9.52 TTN 0 genome.wustl.edu 37 2 179636198 179636198 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 179636198 179636198 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.7856 p.G2619D 1.000 superfamily_RNaseH-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 - - 93 0 0.00 52 15 22.39 128 1 0.78 111 11 9.02 TTN 0 genome.wustl.edu 37 2 179636199 179636199 + Splice_Site SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 179636199 179636199 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known splice_site c.7856-1 e33-1 1.000 - - - no_errors TTN HGNC ENSG00000155657 tier1 - - 93 0 0.00 52 15 22.39 129 0 0.00 111 11 9.02 ANKS1B 0 genome.wustl.edu 37 12 99145269 99145269 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 99145269 99145269 C T SNP ANKS1B ENST00000329257 human ensembl 74_37 -1 known missense c.3536 p.G1179E 1.000 pfam_PTB/PI_dom,smart_PTB/PI_dom,pfscan_PTB/PI_dom pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_PTB/PI_dom,pfam_SAM_2,pfam_PTB,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,smart_PTB/PI_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PTB/PI_dom,pfscan_SAM,prints_Ankyrin_rpt - no_errors ANKS1B HGNC ENSG00000185046 tier1 - - 87 0 0.00 40 6 13.04 102 0 0.00 88 8 8.33 IBA57 0 genome.wustl.edu 37 1 228362717 228362717 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 228362717 228362717 C T SNP IBA57 ENST00000366711 human ensembl 74_37 +1 known silent c.666 p.H222 1.000 pfam_GCV_T_N,tigrfam_YgfZ/GcvT_CS pfam_GCV_T_N,pfam_GCV_T_C,tigrfam_YgfZ/GcvT_CS - no_errors IBA57 HGNC ENSG00000181873 tier1 - - 73 0 0.00 40 13 24.53 30 0 0.00 41 4 8.89 CDC25B 0 genome.wustl.edu 37 20 3781928 3781928 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 3781928 3781928 G A SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known missense c.733 p.V245M 0.001 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 tier1 - - 71 0 0.00 35 13 27.08 64 0 0.00 76 7 8.43 ZSCAN2 0 genome.wustl.edu 37 15 85165025 85165025 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 85165025 85165025 C T SNP ZSCAN2 ENST00000448803 human ensembl 74_37 +1 known silent c.1599 p.L533 0.249 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN2 HGNC ENSG00000176371 tier1 - - 42 0 0.00 20 4 16.67 38 0 0.00 38 4 9.52 GUCY2C 0 genome.wustl.edu 37 12 14825853 14825853 + Missense_Mutation SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 12 14825853 14825853 A G SNP GUCY2C ENST00000261170 human ensembl 74_37 -1 known missense c.1124 p.V375A 0.459 pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,superfamily_A/G_cyclase,superfamily_Peripla_BP_I,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,pfscan_A/G_cyclase - no_errors GUCY2C HGNC ENSG00000070019 tier1 rs147742759 GMAF=0 57 0 0.00 47 7 12.96 126 0 0.00 173 13 6.99 TOX3 0 genome.wustl.edu 37 16 52473609 52473609 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 52473609 52473609 C T SNP TOX3 ENST00000219746 human ensembl 74_37 -1 known missense c.1259 p.G420E 0.998 NULL pfam_HMG_box_dom,superfamily_HMG_box_dom,smart_HMG_box_dom,pfscan_HMG_box_dom - no_errors TOX3 HGNC ENSG00000103460 tier1 - - 61 0 0.00 45 9 16.67 71 0 0.00 68 4 5.48 CDC25B 0 genome.wustl.edu 37 20 3781927 3781927 + Silent SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 3781927 3781927 A G SNP CDC25B ENST00000245960 human ensembl 74_37 +1 known silent c.732 p.E244 0.007 pfam_MPI_Phosphatase pfam_MPI_Phosphatase,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,smart_Rhodanese-like_dom,pfscan_Rhodanese-like_dom,prints_MPI_Phosphatase - no_errors CDC25B HGNC ENSG00000101224 tier1 - - 72 0 0.00 35 13 27.08 64 0 0.00 76 7 8.43 SUMF1 0 genome.wustl.edu 37 3 4452606 4452606 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 4452606 4452606 C T SNP SUMF1 ENST00000448413 human ensembl 74_37 -1 known nonsense c.897 p.W299* 1.000 pfam_FGE_dom,superfamily_C-type_lectin_fold pfam_FGE_dom,superfamily_C-type_lectin_fold - no_errors SUMF1 HGNC ENSG00000144455 tier1 - - 52 0 0.00 37 6 13.95 165 0 0.00 157 15 8.72 TGFBR2 0 genome.wustl.edu 37 3 30713642 30713642 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 30713642 30713642 C T SNP TGFBR2 ENST00000359013 human ensembl 74_37 +1 known silent c.1042 p.L348 1.000 pirsf_Transform_growth_fac-b_typ-2,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 pirsf_Transform_growth_fac-b_typ-2,pfam_Transforming_GF_b_rcpt_2_ecto,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,prints_TGFB_receptor,pfscan_Prot_kinase_dom - no_errors TGFBR2 HGNC ENSG00000163513 tier1 - - 42 0 0.00 30 5 14.29 70 0 0.00 61 6 8.96 CLN3 0 genome.wustl.edu 37 16 28497920 28497920 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 28497920 28497920 G A SNP CLN3 ENST00000359984 human ensembl 74_37 -1 known missense c.512 p.S171F 0.846 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 pfam_Battenin_disease_Cln3,superfamily_MFS_dom_general_subst_transpt,pirsf_Battenin_disease_Cln3_subgr,prints_Battenin_disease_Cln3 - no_errors CLN3 HGNC ENSG00000188603 tier1 - - 71 0 0.00 31 6 16.22 75 0 0.00 39 4 9.30 PARP8 0 genome.wustl.edu 37 5 50137955 50137955 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 50137955 50137955 G A SNP PARP8 ENST00000503561 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors PARP8 HGNC ENSG00000151883 tier1 - - 153 0 0.00 80 7 8.05 114 0 0.00 112 10 8.20 SMCHD1 0 genome.wustl.edu 37 18 2762122 2762122 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 18 2762122 2762122 C T SNP SMCHD1 ENST00000320876 human ensembl 74_37 +1 known missense c.4454 p.P1485L 1.000 NULL pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_HATPase_ATP-bd,smart_SMC_hinge - no_errors SMCHD1 HGNC ENSG00000101596 tier1 - - 48 0 0.00 16 3 15.79 148 0 0.00 102 11 9.73 BCL9 0 genome.wustl.edu 37 1 147094275 147094275 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 147094275 147094275 G A SNP BCL9 ENST00000234739 human ensembl 74_37 +1 known missense c.3106 p.D1036N 1.000 NULL pfam_BCL9_beta-catenin-bd_dom - no_errors BCL9 HGNC ENSG00000116128 tier1 - - 55 0 0.00 39 5 11.11 126 0 0.00 111 10 8.26 MPHOSPH10 0 genome.wustl.edu 37 2 71360032 71360032 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 71360032 71360032 C T SNP MPHOSPH10 ENST00000244230 human ensembl 74_37 +1 known nonsense c.94 p.Q32* 1.000 pfam_Mpp10,pirsf_snoRNP_Mpp10 pfam_Mpp10,pirsf_snoRNP_Mpp10 - no_errors MPHOSPH10 HGNC ENSG00000124383 tier1 - - 85 0 0.00 66 14 17.50 56 0 0.00 65 6 8.45 C22orf24 0 genome.wustl.edu 37 22 32334105 32334105 + Frame_Shift_Del DEL A A - TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 22 32334105 32334105 A - DEL C22orf24 ENST00000543051 human ensembl 74_37 -1 known frame_shift_del c.149 p.F50fs 0.000 NULL NULL - no_errors C22orf24 HGNC ENSG00000128254 tier1 47 0 0.00 21 3 12.50 99 0 0.00 120 4 3.23 PLCL1 0 genome.wustl.edu 37 2 198949937 198949937 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 198949937 198949937 C T SNP PLCL1 ENST00000428675 human ensembl 74_37 +1 known nonsense c.1696 p.R566* 1.000 superfamily_PLC-like_Pdiesterase_TIM-brl pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_dom,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_dom,pfscan_C2_dom,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C - no_errors PLCL1 HGNC ENSG00000115896 tier1 - - 78 0 0.00 42 13 23.64 102 2 1.92 121 23 15.97 FCGBP 0 genome.wustl.edu 37 19 40362864 40362864 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 40362864 40362864 G A SNP FCGBP ENST00000221347 human ensembl 74_37 -1 known missense c.15206 p.P5069L 0.998 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out - no_errors FCGBP HGNC ENSG00000090920 tier1 - - 54 0 0.00 25 8 24.24 45 1 2.17 28 15 34.88 PCDHGC3 0 genome.wustl.edu 37 5 140855792 140855792 + Missense_Mutation SNP A A T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 5 140855792 140855792 A T SNP PCDHGC3 ENST00000308177 human ensembl 74_37 +1 known missense c.109 p.I37F 1.000 pfam_Cadherin_N,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHGC3 HGNC ENSG00000240184 tier1 - - 29 0 0.00 21 7 25.00 44 1 2.22 51 11 17.74 SUPT5H 0 genome.wustl.edu 37 19 39961028 39961028 + Frame_Shift_Del DEL C C - TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 39961028 39961028 C - DEL SUPT5H ENST00000432763 human ensembl 74_37 +1 known frame_shift_del c.1542 p.R516fs 0.993 superfamily_Translation_prot_SH3-like,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N_dom,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 tier1 44 0 0.00 33 10 23.26 23 1 4.17 22 9 29.03 ENSG00000269895 0 genome.wustl.edu 37 11 86544271 86544271 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 86544271 86544271 C T SNP ENSG00000269895 ENST00000602510 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors AP000654.4 Clone_based_vega_gene ENSG00000269895 tier1 - - 117 0 0.00 52 18 25.71 7 0 0.00 2 0 0.00 HPN 0 genome.wustl.edu 37 19 35550807 35550807 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 19 35550807 35550807 G A SNP HPN ENST00000262626 human ensembl 74_37 +1 known missense c.320 p.R107Q 0.886 pfam_Hepsin-SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel pfam_Peptidase_S1,pfam_Hepsin-SRCR,superfamily_Trypsin-like_Pept_dom,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors HPN HGNC ENSG00000105707 tier1 - - 33 0 0.00 17 7 29.17 7 0 0.00 7 0 0.00 KIF26A 0 genome.wustl.edu 37 14 104639375 104639375 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 104639375 104639375 C T SNP KIF26A ENST00000423312 human ensembl 74_37 +1 known silent c.1482 p.C494 0.984 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,prints_Kinesin_motor_dom,pfscan_Kinesin_motor_dom - no_errors KIF26A HGNC ENSG00000066735 tier1 - - 37 0 0.00 36 4 10.00 5 0 0.00 8 0 0.00 PRSS50 0 genome.wustl.edu 37 3 46759225 46759226 + In_Frame_Ins INS - - ATA TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 46759225 46759226 - ATA INS PRSS50 ENST00000315170 human ensembl 74_37 -1 known in_frame_ins c.90_89 p.31in_frame_insM 0.978:0.984 NULL pfam_Peptidase_S1,pfam_Peptidase_S1A_nudel,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A - no_errors PRSS50 HGNC ENSG00000206549 tier1 29 0 0.00 9 2 18.18 10 0 0.00 9 0 0.00 ARGLU1 0 genome.wustl.edu 37 13 107220058 107220058 + Silent SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 107220058 107220058 C T SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known silent c.210 p.R70 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 tier1 - - 44 0 0.00 24 7 22.58 4 0 0.00 0 0 0.00 ARGLU1 0 genome.wustl.edu 37 13 107220059 107220059 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 13 107220059 107220059 C T SNP ARGLU1 ENST00000400198 human ensembl 74_37 -1 known missense c.209 p.R70Q 1.000 NULL NULL - no_errors ARGLU1 HGNC ENSG00000134884 tier1 - - 46 0 0.00 24 7 22.58 4 0 0.00 0 0 0.00 BRD7 0 genome.wustl.edu 37 16 50383335 50383336 + R INS - - A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 50383335 50383336 - A INS BRD7 ENST00000401491 human ensembl 74_37 -1 known rna NULL NULL 0.993:0.995 - - - no_errors BRD7 HGNC ENSG00000166164 tier1 8 0 0.00 7 2 22.22 0 0 0.00 0 0 0.00 CTAGE8 0 genome.wustl.edu 37 7 143965765 143965765 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 7 143965765 143965765 G A SNP CTAGE8 ENST00000487179 human ensembl 74_37 -1 known silent c.579 p.I193 0.094 NULL NULL - no_errors CTAGE8 HGNC ENSG00000244693 tier1 - - 21 0 0.00 9 3 25.00 0 0 0.00 0 1 100.00 ENSG00000203496 0 genome.wustl.edu 37 10 38754946 38754946 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 10 38754946 38754946 C T SNP ENSG00000203496 ENST00000428915 human ensembl 74_37 +1 known rna NULL NULL 0.002 - - - no_errors RP11-291L22.4 Clone_based_vega_gene ENSG00000203496 tier1 - - 434 0 0.00 168 79 31.98 0 0 0.00 0 0 0.00 ENSG00000203849 0 genome.wustl.edu 37 1 142713836 142713844 + R DEL AATTTTCAT AATTTTCAT - TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 AATTTTCAT AATTTTCAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 142713836 142713844 AATTTTCAT - DEL ENSG00000203849 ENST00000369381 human ensembl 74_37 -1 known rna NULL NULL 0.107:0.108:0.114:0.112:0.099:0.091:0.068:0.052:0.040 - - - no_errors RP11-417J8.6 Clone_based_vega_gene ENSG00000203849 tier1 2 0 0.00 3 1 25.00 2 0 0.00 3 1 25.00 ENSG00000233487 0 genome.wustl.edu 37 3 196713812 196713812 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 196713812 196713812 G A SNP ENSG00000233487 ENST00000445739 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors AC011322.1 Clone_based_vega_gene ENSG00000233487 tier1 - - 67 0 0.00 27 13 32.50 0 0 0.00 1 0 0.00 ENSG00000233487 0 genome.wustl.edu 37 3 196713813 196713813 + R SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 3 196713813 196713813 G A SNP ENSG00000233487 ENST00000445739 human ensembl 74_37 -1 putative rna NULL NULL 1.000 - - - no_errors AC011322.1 Clone_based_vega_gene ENSG00000233487 tier1 - - 67 0 0.00 28 12 30.00 0 0 0.00 1 0 0.00 FAM120C 0 genome.wustl.edu 37 X 54209302 54209303 + In_Frame_Ins INS - - GGCGGC TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e X 54209302 54209303 - GGCGGC INS FAM120C ENST00000375180 human ensembl 74_37 -1 known in_frame_ins c.330_329 p.112in_frame_insPP 0.999:0.998 NULL NULL - no_errors FAM120C HGNC ENSG00000184083 tier1 0 0 0.00 1 0 0.00 0 0 0.00 1 0 0.00 FSCB 0 genome.wustl.edu 37 14 44974210 44974210 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 14 44974210 44974210 G A SNP FSCB ENST00000340446 human ensembl 74_37 -1 known missense c.1981 p.P661S 0.074 NULL NULL - no_errors FSCB HGNC ENSG00000189139 tier1 - - 81 0 0.00 42 13 23.64 0 0 0.00 0 0 0.00 NBPF9 0 genome.wustl.edu 37 1 144822954 144822954 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 144822954 144822954 C T SNP NBPF9 ENST00000473761 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors NBPF9 HGNC ENSG00000168614 tier1 - - 108 0 0.00 54 17 23.94 4 0 0.00 0 0 0.00 NRXN1 0 genome.wustl.edu 37 2 50147836 50147845 + R DEL GTGTGTGTGT GTGTGTGTGT - TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 GTGTGTGTGT GTGTGTGTGT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 50147836 50147845 GTGTGTGTGT - DEL NRXN1 ENST00000484192 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.001:0.005:0.106:0.113:0.127:0.107:0.109:0.093:0.096 - - - no_errors NRXN1 HGNC ENSG00000179915 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 POTEB 0 genome.wustl.edu 37 15 22077588 22077588 + Silent SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 15 22077588 22077588 A G SNP POTEB ENST00000439682 human ensembl 74_37 -1 known silent c.642 p.D214 0.003 pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors POTEB HGNC ENSG00000233917 tier1 rs201906481 - 14 0 0.00 15 10 40.00 2 0 0.00 0 0 0.00 ADGB 0 genome.wustl.edu 37 6 147136210 147136210 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 6 147136210 147136210 G A SNP ADGB ENST00000397944 human ensembl 74_37 +1 known missense c.4861 p.E1621K 0.992 NULL pfam_Peptidase_C2_calpain_cat,superfamily_Globin-like,smart_Peptidase_C2_calpain_cat,pfscan_IQ_motif_EF-hand-BS,pfscan_Peptidase_C2_calpain_cat - no_errors ADGB HGNC ENSG00000118492 tier1 - - 91 0 0.00 48 8 14.29 3 0 0.00 2 6 75.00 GS 0 genome.wustl.edu 37 20 57430110 57430110 + Missense_Mutation SNP A A G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 20 57430110 57430110 A G SNP GS ENST00000371100 human ensembl 74_37 +1 putative missense c.1790 p.N597S 0.000 NULL pfam_Gprotein_alpha_su,pfam_Small_GTPase_ARF/SAR,superfamily_P-loop_NTPase,superfamily_GproteinA_insert,smart_Gprotein_alpha_su,prints_Gprotein_alpha_S,prints_Gprotein_alpha_su - no_errors GS HGNC ENSG00000087460 tier1 - - 47 0 0.00 26 4 13.33 55 0 0.00 49 2 3.92 TBL3 0 genome.wustl.edu 37 16 2027654 2027654 + Nonsense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 2027654 2027654 C T SNP TBL3 ENST00000568546 human ensembl 74_37 +1 known nonsense c.1882 p.R628* 0.398 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom pfam_WD40_repeat,pfam_SSU_processome_Utp13,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors TBL3 HGNC ENSG00000183751 tier1 - - 54 0 0.00 25 5 16.67 14 0 0.00 19 2 9.52 WWC2-AS2 0 genome.wustl.edu 37 4 184019230 184019230 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 184019230 184019230 C T SNP WWC2-AS2 ENST00000506413 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WWC2-AS2 HGNC ENSG00000251359 tier1 - - 59 0 0.00 28 5 15.15 30 0 0.00 28 2 6.67 CAC1E 0 genome.wustl.edu 37 1 181701549 181701549 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 181701549 181701549 C T SNP CAC1E ENST00000367573 human ensembl 74_37 +1 known missense c.2327 p.S776F 0.999 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CAC1E HGNC ENSG00000198216 tier1 - - 46 0 0.00 27 8 22.86 15 0 0.00 28 3 9.68 FLG2 0 genome.wustl.edu 37 1 152323447 152323447 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 1 152323447 152323447 G A SNP FLG2 ENST00000388718 human ensembl 74_37 -1 known missense c.6815 p.S2272L 0.231 NULL pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG2 HGNC ENSG00000143520 tier1 - - 138 0 0.00 74 18 19.57 32 0 0.00 40 2 4.76 CABP2 0 genome.wustl.edu 37 11 67287292 67287292 + Silent SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 11 67287292 67287292 G A SNP CABP2 ENST00000294288 human ensembl 74_37 -1 known silent c.609 p.L203 1.000 pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom pfam_EF_hand_dom,smart_EF_hand_dom,pfscan_EF_hand_dom - no_errors CABP2 HGNC ENSG00000167791 tier1 - - 47 0 0.00 20 5 20.00 75 0 0.00 56 3 5.08 CYorf17 0 genome.wustl.edu 37 Y 23545489 23545489 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e Y 23545489 23545489 G A SNP CYorf17 ENST00000382764 human ensembl 74_37 -1 known missense c.283 p.P95S 0.202 NULL pfam_DUF1725 - no_errors CYorf17 HGNC ENSG00000183146 tier1 - - 82 0 0.00 24 20 45.45 29 0 0.00 23 2 8.00 WWC2-AS2 0 genome.wustl.edu 37 4 184019229 184019229 + R SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 4 184019229 184019229 C T SNP WWC2-AS2 ENST00000506413 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors WWC2-AS2 HGNC ENSG00000251359 tier1 - - 59 0 0.00 28 5 15.15 29 0 0.00 28 2 6.67 NLRC3 0 genome.wustl.edu 37 16 3614928 3614928 + Missense_Mutation SNP C C T TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 16 3614928 3614928 C T SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.251 p.S84N 0.079 NULL superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_CHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 19 0 0.00 18 8 30.77 19 0 0.00 24 2 7.69 CYorf17 0 genome.wustl.edu 37 Y 23545488 23545488 + Missense_Mutation SNP G G A TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e Y 23545488 23545488 G A SNP CYorf17 ENST00000382764 human ensembl 74_37 -1 known missense c.284 p.P95L 0.208 NULL pfam_DUF1725 - no_errors CYorf17 HGNC ENSG00000183146 tier1 - - 82 0 0.00 24 20 45.45 28 0 0.00 23 2 8.00 SCTR 0 genome.wustl.edu 37 2 120223381 120223381 + Missense_Mutation SNP T T G TCGA-QQ-A5VD-01A-21D-A32I-09 TCGA-QQ-A5VD-10A-01D-A32I-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2c9fa8fc-5b5a-438e-882c-ff14c5a3405a e9ecae33-6999-4f53-a303-69e56ddb9c3e 2 120223381 120223381 T G SNP SCTR ENST00000019103 human ensembl 74_37 -1 known missense c.487 p.I163L 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like,prints_GPCR_2_secretin_rcpt,prints_GPCR_2_VIP_rcpt_1 - no_errors SCTR HGNC ENSG00000080293 tier1 - - 113 0 0.00 59 6 9.23 78 0 0.00 80 3 3.61