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 AFF2 0 genome.wustl.edu 37 X 148038143 148038143 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d X 148038143 148038143 G T SNP AFF2 ENST00000370460 human ensembl 74_37 +1 known missense c.2568 p.K856N 1.000 pfam_TF_AF4/FMR2 pfam_TF_AF4/FMR2 - no_errors AFF2 HGNC ENSG00000155966 tier1 - - 35 0 0.00 43 4 8.51 SH3GLB1 0 genome.wustl.edu 37 1 87194113 87194113 + Missense_Mutation SNP G G C TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 87194113 87194113 G C SNP SH3GLB1 ENST00000482504 human ensembl 74_37 +1 known missense c.598 p.D200H 1.000 pfam_BAR_dom,pfam_BAR_dom-cont,smart_BAR_dom,pfscan_BAR_dom pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain - no_errors SH3GLB1 HGNC ENSG00000097033 tier1 - - 46 0 0.00 44 4 8.33 MMP3 0 genome.wustl.edu 37 11 102713509 102713509 + Missense_Mutation SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 11 102713509 102713509 C T SNP MMP3 ENST00000299855 human ensembl 74_37 -1 known missense c.244 p.D82N 0.000 pirsf_Pept_M10A_Metazoans,pfam_Peptidoglycan-bd-like,superfamily_Peptidoglycan-bd-like pirsf_Pept_M10A_Metazoans,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,prints_Pept_M10A - no_errors MMP3 HGNC ENSG00000149968 tier1 - - 44 0 0.00 44 4 8.33 JAG1 0 genome.wustl.edu 37 20 10620502 10620502 + Missense_Mutation SNP T T C TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 20 10620502 10620502 T C SNP JAG1 ENST00000254958 human ensembl 74_37 -1 known missense c.3301 p.S1101G 1.000 NULL pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd_dom,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom - no_errors JAG1 HGNC ENSG00000101384 tier1 - - 56 0 0.00 66 9 12.00 PCLO 0 genome.wustl.edu 37 7 82784690 82784690 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 7 82784690 82784690 G T SNP PCLO ENST00000333891 human ensembl 74_37 -1 known missense c.1267 p.Q423K 0.826 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 - - 30 0 0.00 42 4 8.70 NEB 0 genome.wustl.edu 37 2 152512817 152512817 + Silent SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 2 152512817 152512817 G T SNP NEB ENST00000397345 human ensembl 74_37 -1 known silent c.6345 p.T2115 0.951 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 tier1 - - 30 0 0.00 31 4 11.11 MBOAT4 0 genome.wustl.edu 37 8 29989494 29989494 + Silent SNP A A G TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 8 29989494 29989494 A G SNP MBOAT4 ENST00000320542 human ensembl 74_37 -1 known silent c.1273 p.L425 0.060 NULL pfam_MBOAT_fam - no_errors MBOAT4 HGNC ENSG00000177669 tier1 - - 41 0 0.00 39 5 11.36 TP53 0 genome.wustl.edu 37 17 7577142 7577142 + Missense_Mutation SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 17 7577142 7577142 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.796 p.G266R 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 - - 23 0 0.00 46 9 16.36 STK3 0 genome.wustl.edu 37 8 99539036 99539036 + Silent SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 8 99539036 99539036 G T SNP STK3 ENST00000419617 human ensembl 74_37 -1 known silent c.1251 p.P417 0.996 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Mst1_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH_dom,pfscan_Prot_kinase_dom - no_errors STK3 HGNC ENSG00000104375 tier1 - - 44 0 0.00 25 3 10.34 TM9SF2 0 genome.wustl.edu 37 13 100192902 100192902 + R DEL T T - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 13 100192902 100192902 T - DEL TM9SF2 ENST00000466555 human ensembl 74_37 +1 known rna NULL NULL 0.045 - - - no_errors TM9SF2 HGNC ENSG00000125304 tier1 24 0 0.00 20 4 16.67 SCAP 0 genome.wustl.edu 37 3 47470002 47470002 + Splice_Site SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 3 47470002 47470002 C T SNP SCAP ENST00000265565 human ensembl 74_37 -1 known splice_site c.410+1 e3+1 1.000 - - - no_errors SCAP HGNC ENSG00000114650 tier1 - - 75 0 0.00 106 10 8.55 VANGL2 0 genome.wustl.edu 37 1 160394931 160394931 + Silent SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 160394931 160394931 G A SNP VANGL2 ENST00000368061 human ensembl 74_37 +1 known silent c.1329 p.A443 0.077 pfam_Strabismus,pirsf_Strabismus pfam_Strabismus,pirsf_Strabismus - no_errors VANGL2 HGNC ENSG00000162738 tier1 rs146767141 GMAF=0.0005 56 0 0.00 58 10 14.71 FSIP2 0 genome.wustl.edu 37 2 186657269 186657269 + Silent SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 2 186657269 186657269 C A SNP FSIP2 ENST00000343098 human ensembl 74_37 +1 known silent c.5673 p.L1891 0.013 NULL NULL - no_errors FSIP2 HGNC ENSG00000188738 tier1 - - 60 0 0.00 29 3 9.38 CX3CL1 0 genome.wustl.edu 37 16 57416150 57416150 + Missense_Mutation SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 16 57416150 57416150 G A SNP CX3CL1 ENST00000006053 human ensembl 74_37 +1 known missense c.400 p.E134K 0.000 NULL pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CX3CL1 - no_errors CX3CL1 HGNC ENSG00000006210 tier1 - - 109 0 0.00 118 14 10.53 FMO5 0 genome.wustl.edu 37 1 146658796 146658796 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 146658796 146658796 G T SNP FMO5 ENST00000254090 human ensembl 74_37 -1 known missense c.1285 p.Q429K 1.000 pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2 pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/D,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1 - no_errors FMO5 HGNC ENSG00000131781 tier1 - - 28 0 0.00 21 3 12.50 APPL2 0 genome.wustl.edu 37 12 105597501 105597501 + Silent SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 12 105597501 105597501 G A SNP APPL2 ENST00000551662 human ensembl 74_37 -1 known silent c.702 p.S234 0.806 NULL pfam_PTB/PI_dom,pfam_Pleckstrin_homology,pfam_PTB,smart_Pleckstrin_homology,smart_PTB/PI_dom,pfscan_Pleckstrin_homology,pfscan_PTB/PI_dom - no_errors APPL2 HGNC ENSG00000136044 tier1 - - 151 0 0.00 198 18 8.33 ATAD2B 0 genome.wustl.edu 37 2 24149446 24149446 + Silent SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 2 24149446 24149446 G T SNP ATAD2B ENST00000238789 human ensembl 74_37 -1 known silent c.195 p.G65 0.895 NULL pfam_ATPase_AAA_core,pfam_Bromodomain,pfam_IstB_ATP-bd,superfamily_P-loop_NTPase,superfamily_Bromodomain,smart_AAA+_ATPase,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain - no_errors ATAD2B HGNC ENSG00000119778 tier1 - - 10 0 0.00 6 4 36.36 XYLB 0 genome.wustl.edu 37 3 38411731 38411732 + R INS - - CACA TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 3 38411731 38411732 - CACA INS XYLB ENST00000487569 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors XYLB HGNC ENSG00000093217 tier1 10 0 0.00 18 4 18.18 UCHL3 0 genome.wustl.edu 37 13 76179970 76179970 + R DEL A A - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 13 76179970 76179970 A - DEL UCHL3 ENST00000606347 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors UCHL3 HGNC ENSG00000118939 tier1 24 0 0.00 21 2 8.70 DEAF1 0 genome.wustl.edu 37 11 680002 680003 + R INS - - ACCAGGATG TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 11 680002 680003 - ACCAGGATG INS DEAF1 ENST00000525904 human ensembl 74_37 -1 known rna NULL NULL 0.000:0.000 - - - no_errors DEAF1 HGNC ENSG00000177030 tier1 ENSG00000273192 0 genome.wustl.edu 37 22 50297769 50297769 + R SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 22 50297769 50297769 C T SNP ENSG00000273192 ENST00000610245 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors CITF22-1A6.3 Clone_based_vega_gene ENSG00000273192 tier1 - - 141 0 0.00 185 19 9.31 AGBL5 0 genome.wustl.edu 37 2 27282286 27282286 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 2 27282286 27282286 G T SNP AGBL5 ENST00000323064 human ensembl 74_37 +1 known missense c.2103 p.W701C 1.000 NULL pfam_Peptidase_M14 - no_errors AGBL5 HGNC ENSG00000084693 tier1 - - 73 0 0.00 102 14 12.07 LRTM1 0 genome.wustl.edu 37 3 54952751 54952751 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 3 54952751 54952751 G T SNP LRTM1 ENST00000273286 human ensembl 74_37 -1 known missense c.773 p.P258H 0.001 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C - no_errors LRTM1 HGNC ENSG00000144771 tier1 - - 41 0 0.00 46 4 8.00 PEG3 0 genome.wustl.edu 37 19 57327590 57327590 + Silent SNP A A T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 19 57327590 57327590 A T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2220 p.P740 0.056 NULL 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 PEG3 HGNC ENSG00000198300 tier1 - - 37 0 0.00 53 5 8.62 ABCA1 0 genome.wustl.edu 37 9 107576725 107576725 + Missense_Mutation SNP A A G TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 9 107576725 107576725 A G SNP ABCA1 ENST00000374736 human ensembl 74_37 -1 known missense c.3770 p.V1257A 1.000 NULL pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCA1 HGNC ENSG00000165029 tier1 - - 36 0 0.00 64 6 8.57 LRRK2 0 genome.wustl.edu 37 12 40677723 40677723 + Missense_Mutation SNP A A G TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 12 40677723 40677723 A G SNP LRRK2 ENST00000298910 human ensembl 74_37 +1 known missense c.2288 p.N763S 0.002 superfamily_ARM-type_fold pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_MIRO-like,pfam_Small_GTPase,pfam_Leu-rich_rpt,pfam_Small_GTPase_ARF/SAR,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Small_GTPase_Rab_type,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Small_GTPase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom,tigrfam_Small_GTP-bd_dom - no_errors LRRK2 HGNC ENSG00000188906 tier1 - - 34 0 0.00 22 3 12.00 PLEKHG1 0 genome.wustl.edu 37 6 151125824 151125824 + Missense_Mutation SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 6 151125824 151125824 G A SNP PLEKHG1 ENST00000358517 human ensembl 74_37 +1 known missense c.859 p.A287T 1.000 pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain - no_errors PLEKHG1 HGNC ENSG00000120278 tier1 - - 32 0 0.00 45 4 8.16 C1orf35 0 genome.wustl.edu 37 1 228289201 228289201 + R SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 228289201 228289201 C A SNP C1orf35 ENST00000469781 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors C1orf35 HGNC ENSG00000143793 tier1 - - 34 0 0.00 46 4 8.00 ALG3 0 genome.wustl.edu 37 3 183960782 183960782 + R SNP T T G TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 3 183960782 183960782 T G SNP ALG3 ENST00000463495 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors ALG3 HGNC ENSG00000214160 tier1 rs200645083 GMAF=0.0005 38 0 0.00 29 5 14.71 GDPD5 0 genome.wustl.edu 37 11 75153941 75153941 + R DEL C C - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 11 75153941 75153941 C - DEL GDPD5 ENST00000527322 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors GDPD5 HGNC ENSG00000158555 tier1 8 0 0.00 11 2 15.38 NDUFA9 0 genome.wustl.edu 37 12 4794302 4794302 + Frame_Shift_Del DEL A A - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 12 4794302 4794302 A - DEL NDUFA9 ENST00000540688 human ensembl 74_37 +1 putative frame_shift_del c.51 p.K20fs 0.000 NULL NULL - no_errors NDUFA9 HGNC ENSG00000139180 tier1 15 0 0.00 19 3 13.64 GSG1 0 genome.wustl.edu 37 12 13243611 13243611 + Nonsense_Mutation SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 12 13243611 13243611 C A SNP GSG1 ENST00000324458 human ensembl 74_37 -1 known nonsense c.190 p.E64* 1.000 pfam_GSG-1 pfam_GSG-1 - no_errors GSG1 HGNC ENSG00000111305 tier1 - - 30 0 0.00 46 4 8.00 PKHD1 0 genome.wustl.edu 37 6 51609282 51609282 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 6 51609282 51609282 G T SNP PKHD1 ENST00000371117 human ensembl 74_37 -1 known missense c.10057 p.L3353I 1.000 NULL pfam_IPT,pfam_G8_domain,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,smart_IPT,smart_PbH1 - no_errors PKHD1 HGNC ENSG00000170927 tier1 - - 33 0 0.00 38 4 9.52 ZNF674 0 genome.wustl.edu 37 X 46360436 46360436 + Frame_Shift_Del DEL A A - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d X 46360436 46360436 A - DEL ZNF674 ENST00000523374 human ensembl 74_37 -1 known frame_shift_del c.588 p.F196fs 0.054 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 ZNF674 HGNC ENSG00000251192 tier1 11 0 0.00 18 2 10.00 WDR55 0 genome.wustl.edu 37 5 140048683 140048683 + Missense_Mutation SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 5 140048683 140048683 G A SNP WDR55 ENST00000358337 human ensembl 74_37 +1 known missense c.680 p.C227Y 1.000 superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat_dom pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_WD_repeat_p55,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR55 HGNC ENSG00000120314 tier1 - - 65 0 0.00 76 8 9.52 WRB 0 genome.wustl.edu 37 21 40768975 40768975 + R DEL T T - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 21 40768975 40768975 T - DEL WRB ENST00000466787 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors WRB HGNC ENSG00000182093 tier1 29 0 0.00 23 5 17.86 DJC13 0 genome.wustl.edu 37 3 132165329 132165329 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 3 132165329 132165329 G T SNP DJC13 ENST00000260818 human ensembl 74_37 +1 known missense c.79 p.V27F 1.000 NULL pfam_DnaJ_domain,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_domain,pfscan_DnaJ_domain - no_errors DJC13 HGNC ENSG00000138246 tier1 - - 67 0 0.00 45 4 8.16 ALDH9A1 0 genome.wustl.edu 37 1 165638239 165638239 + Silent SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 165638239 165638239 C A SNP ALDH9A1 ENST00000354775 human ensembl 74_37 -1 known silent c.1131 p.V377 0.795 pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH - no_errors ALDH9A1 HGNC ENSG00000143149 tier1 - - 42 0 0.00 37 4 9.76 SLC18A2 0 genome.wustl.edu 37 10 119001250 119001250 + Missense_Mutation SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 10 119001250 119001250 C A SNP SLC18A2 ENST00000298472 human ensembl 74_37 +1 known missense c.46 p.R16S 1.000 superfamily_MFS_dom_general_subst_transpt pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A2 HGNC ENSG00000165646 tier1 - - 17 0 0.00 17 4 19.05 LUZP1 0 genome.wustl.edu 37 1 23420544 23420544 + Silent SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 23420544 23420544 G T SNP LUZP1 ENST00000302291 human ensembl 74_37 -1 known silent c.211 p.R71 1.000 NULL NULL - no_errors LUZP1 HGNC ENSG00000169641 tier1 - - 30 0 0.00 43 4 8.51 ENSG00000221810 0 genome.wustl.edu 37 5 92053196 92053197 + R INS - - ATAC TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 5 92053196 92053197 - ATAC INS ENSG00000221810 ENST00000408883 human ensembl 74_37 -1 novel rna NULL NULL 0.000:0.001 - - - no_errors AC026781.1 Clone_based_ensembl_gene ENSG00000221810 tier1 19 0 0.00 15 3 16.67 TES 0 genome.wustl.edu 37 7 115897455 115897455 + Missense_Mutation SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 7 115897455 115897455 C A SNP TES ENST00000358204 human ensembl 74_37 +1 known missense c.1185 p.S395R 1.000 pfam_Znf_LIM,smart_Znf_LIM pfam_PET_domain,pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM - no_errors TES HGNC ENSG00000135269 tier1 - - 32 0 0.00 19 3 13.64 PTPRU 0 genome.wustl.edu 37 1 29644393 29644393 + Missense_Mutation SNP A A T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 29644393 29644393 A T SNP PTPRU ENST00000345512 human ensembl 74_37 +1 known missense c.3677 p.D1226V 0.972 pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom - no_errors PTPRU HGNC ENSG00000060656 tier1 - - 50 0 0.00 73 8 9.88 UBN2 0 genome.wustl.edu 37 7 138968377 138968377 + Missense_Mutation SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 7 138968377 138968377 C A SNP UBN2 ENST00000473989 human ensembl 74_37 +1 known missense c.2726 p.S909Y 1.000 NULL NULL - no_errors UBN2 HGNC ENSG00000157741 tier1 - - 45 0 0.00 37 4 9.76 NDST4 0 genome.wustl.edu 37 4 115749050 115749050 + Silent SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 4 115749050 115749050 C A SNP NDST4 ENST00000264363 human ensembl 74_37 -1 known silent c.2541 p.V847 1.000 superfamily_P-loop_NTPase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST4 HGNC ENSG00000138653 tier1 - - 44 0 0.00 31 4 11.43 TTN 0 genome.wustl.edu 37 2 179539093 179539093 + Silent SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 2 179539093 179539093 G T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.30753 p.I10251 0.999 superfamily_Calpain_domain_III,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 - - 77 0 0.00 53 5 8.62 PRPF3 0 genome.wustl.edu 37 1 150315720 150315728 + R DEL AAAAAATAT AAAAAATAT - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 AAAAAATAT AAAAAATAT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 150315720 150315728 AAAAAATAT - DEL PRPF3 ENST00000493553 human ensembl 74_37 +1 known rna NULL NULL 0.001:0.001:0.000:0.001:0.000:0.001:0.001:0.002:0.004 - - - no_errors PRPF3 HGNC ENSG00000117360 tier1 RNF220 0 genome.wustl.edu 37 1 45097823 45097823 + R SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 45097823 45097823 G A SNP RNF220 ENST00000471494 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors RNF220 HGNC ENSG00000187147 tier1 - - 127 0 0.00 217 21 8.79 DGKH 0 genome.wustl.edu 37 13 42793907 42793907 + Missense_Mutation SNP A A C TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 13 42793907 42793907 A C SNP DGKH ENST00000337343 human ensembl 74_37 +1 known missense c.3419 p.K1140T 1.000 NULL pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd - no_errors DGKH HGNC ENSG00000102780 tier1 - - 37 0 0.00 40 5 11.11 LAMA2 0 genome.wustl.edu 37 6 129637283 129637283 + Missense_Mutation SNP A A G TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 6 129637283 129637283 A G SNP LAMA2 ENST00000421865 human ensembl 74_37 +1 known missense c.4025 p.K1342R 1.000 pfam_Laminin_B_type_IV,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV pfam_Laminin_G,pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_I,pfam_Laminin_B_type_IV,pfam_Laminin_II,superfamily_ConA-like_lec_gl_sf,superfamily_Galactose-bd-like,superfamily_t-SRE,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 LAMA2 HGNC ENSG00000196569 tier1 - - 54 0 0.00 65 7 9.72 CYP19A1 0 genome.wustl.edu 37 15 51503060 51503060 + Frame_Shift_Del DEL T T - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 15 51503060 51503060 T - DEL CYP19A1 ENST00000260433 human ensembl 74_37 -1 known frame_shift_del c.1457 p.N486fs 0.000 superfamily_Cyt_P450 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP19A1 HGNC ENSG00000137869 tier1 32 0 0.00 28 3 9.68 CIDEA 0 genome.wustl.edu 37 18 12254562 12254563 + Frame_Shift_Ins INS - - CCGCGCACACACCCAT TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 18 12254562 12254563 - CCGCGCACACACCCAT INS CIDEA ENST00000522713 human ensembl 74_37 +1 known frame_shift_ins c.180_181 p.H64fs 0.077:0.122 NULL NULL - no_errors CIDEA HGNC ENSG00000176194 tier1 ZDHHC11B 0 genome.wustl.edu 37 5 711614 711614 + R SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 5 711614 711614 C A SNP ZDHHC11B ENST00000522356 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors ZDHHC11B HGNC ENSG00000206077 tier1 - - 20 0 0.00 15 3 16.67 STAM 0 genome.wustl.edu 37 10 17738849 17738849 + Silent SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 10 17738849 17738849 C A SNP STAM ENST00000377524 human ensembl 74_37 +1 known silent c.804 p.L268 0.971 superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain pfam_VHS,pfam_SH3_domain,pfam_SH3_2,pfam_Ubiquitin-int_motif,superfamily_ENTH_VHS,superfamily_SH3_domain,smart_VHS_subgr,smart_SH3_domain,pfscan_SH3_domain,pfscan_Ubiquitin-int_motif,pfscan_VHS,prints_SH3_domain,prints_p67phox - no_errors STAM HGNC ENSG00000136738 tier1 - - 30 0 0.00 30 4 11.43 SGTA 0 genome.wustl.edu 37 19 2757763 2757763 + Missense_Mutation SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 19 2757763 2757763 G A SNP SGTA ENST00000221566 human ensembl 74_37 -1 known missense c.755 p.S252L 0.964 NULL pfam_TPR_1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors SGTA HGNC ENSG00000104969 tier1 - - 113 0 0.00 151 14 8.43 BPIFB3 0 genome.wustl.edu 37 20 31652609 31652609 + Silent SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 20 31652609 31652609 G T SNP BPIFB3 ENST00000375494 human ensembl 74_37 +1 known silent c.882 p.L294 1.000 pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_C pfam_Lipid-bd_serum_glycop_N,pfam_Lipid-bd_serum_glycop_C,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C - no_errors BPIFB3 HGNC ENSG00000186190 tier1 - - 28 0 0.00 57 5 8.06 POLE 0 genome.wustl.edu 37 12 133208932 133208932 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 12 133208932 133208932 G T SNP POLE ENST00000320574 human ensembl 74_37 -1 known missense c.6299 p.P2100H 1.000 NULL pfam_D_pol_e_suA_C,pfam_D-dir_D_pol_B_exonuc,pfam_D-dir_D_pol_B_multi_dom,pfam_3'-5'_exonuclease_PolB-like,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_B - no_errors POLE HGNC ENSG00000177084 tier1 - - 30 0 0.00 39 4 9.30 ITPR1 0 genome.wustl.edu 37 3 4836803 4836803 + Missense_Mutation SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 3 4836803 4836803 C T SNP ITPR1 ENST00000302640 human ensembl 74_37 +1 known missense c.6818 p.S2273L 1.000 NULL pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif - no_errors ITPR1 HGNC ENSG00000150995 tier1 - - 101 0 0.00 125 11 8.09 ZC3H18 0 genome.wustl.edu 37 16 88643648 88643648 + Silent SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 16 88643648 88643648 C T SNP ZC3H18 ENST00000301011 human ensembl 74_37 +1 known silent c.117 p.D39 0.063 NULL smart_Znf_CCCH - no_errors ZC3H18 HGNC ENSG00000158545 tier1 - - 84 0 0.00 113 14 10.94 KIAA1731 0 genome.wustl.edu 37 11 93432279 93432279 + Frame_Shift_Del DEL C C - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 11 93432279 93432279 C - DEL KIAA1731 ENST00000411936 human ensembl 74_37 +1 known frame_shift_del c.4201 p.P1401fs 0.000 NULL NULL - no_errors KIAA1731 HGNC ENSG00000166004 tier1 13 0 0.00 17 2 10.53 LCN8 0 genome.wustl.edu 37 9 139649957 139649957 + Missense_Mutation SNP T T A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 9 139649957 139649957 T A SNP LCN8 ENST00000371688 human ensembl 74_37 -1 known missense c.238 p.I80F 0.991 pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like pfam_Lipocln_cytosolic_FA-bd_dom,superfamily_Calycin-like - no_errors LCN8 HGNC ENSG00000204001 tier1 - - 112 0 0.00 175 18 9.33 THADA 0 genome.wustl.edu 37 2 43458367 43458367 + Missense_Mutation SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 2 43458367 43458367 C T SNP THADA ENST00000405006 human ensembl 74_37 -1 known missense c.5582 p.R1861H 0.000 NULL pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold - no_errors THADA HGNC ENSG00000115970 tier1 - - 56 0 0.00 69 8 10.26 FGD6 0 genome.wustl.edu 37 12 95603287 95603287 + Missense_Mutation SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 12 95603287 95603287 G T SNP FGD6 ENST00000343958 human ensembl 74_37 -1 known missense c.1773 p.N591K 0.001 NULL pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain - no_errors FGD6 HGNC ENSG00000180263 tier1 - - 30 0 0.00 44 4 8.33 LGALS9C 0 genome.wustl.edu 37 17 18380164 18380165 + R DEL GA GA - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 GA GA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 17 18380164 18380165 GA - DEL LGALS9C ENST00000578983 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.001 - - - no_errors LGALS9C HGNC ENSG00000171916 tier1 110 0 0.00 123 19 13.38 TMEFF1 0 genome.wustl.edu 37 9 103271362 103271362 + Missense_Mutation SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 9 103271362 103271362 G A SNP TMEFF1 ENST00000374879 human ensembl 74_37 +1 known missense c.382 p.A128T 1.000 pfam_Kazal_dom,smart_Kazal_dom pfam_Kazal_dom,smart_Kazal_dom,pfscan_EG-like_dom - no_errors TMEFF1 HGNC ENSG00000241697 tier1 - - 41 0 0.00 39 4 9.30 CHD9 0 genome.wustl.edu 37 16 53190179 53190179 + Missense_Mutation SNP C C A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 16 53190179 53190179 C A SNP CHD9 ENST00000398510 human ensembl 74_37 +1 known missense c.178 p.P60T 0.960 NULL pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,pfam_D/R_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow - no_errors CHD9 HGNC ENSG00000177200 tier1 - - 51 0 0.00 35 4 10.26 ELMO2 0 genome.wustl.edu 37 20 45017815 45017815 + Silent SNP G G A TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 20 45017815 45017815 G A SNP ELMO2 ENST00000439931 human ensembl 74_37 -1 known silent c.288 p.N96 0.998 superfamily_ARM-type_fold pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold - no_errors ELMO2 HGNC ENSG00000062598 tier1 - - 32 0 0.00 37 4 9.76 STOML2 0 genome.wustl.edu 37 9 35101135 35101135 + Missense_Mutation SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 9 35101135 35101135 C T SNP STOML2 ENST00000356493 human ensembl 74_37 -1 known missense c.721 p.A241T 0.999 NULL pfam_Band_7,smart_Band_7,prints_Stomatin - no_errors STOML2 HGNC ENSG00000165283 tier1 - - 46 0 0.00 58 6 9.38 LRIG2 0 genome.wustl.edu 37 1 113667283 113667283 + R DEL T T - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 1 113667283 113667283 T - DEL LRIG2 ENST00000466161 human ensembl 74_37 +1 known rna NULL NULL 0.014 - - - no_errors LRIG2 HGNC ENSG00000198799 tier1 12 0 0.00 20 5 20.00 TRPC3 0 genome.wustl.edu 37 4 122824166 122824166 + Silent SNP G G T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d 4 122824166 122824166 G T SNP TRPC3 ENST00000379645 human ensembl 74_37 -1 known silent c.2304 p.S768 0.819 tigrfam_TRP_channel pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel - no_errors TRPC3 HGNC ENSG00000138741 tier1 - - 54 0 0.00 41 4 8.89 GPR143 0 genome.wustl.edu 37 X 9728813 9728813 + Missense_Mutation SNP C C T TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d X 9728813 9728813 C T SNP GPR143 ENST00000380929 human ensembl 74_37 -1 known missense c.364 p.V122I 0.612 pfam_Ocular_alb1,pfam_GPCR_2_secretin-like pfam_Ocular_alb1,pfam_GPCR_2_secretin-like,prints_Ocular_alb1 - no_errors GPR143 HGNC ENSG00000101850 tier1 - - 50 0 0.00 56 7 11.11 VMA21 0 genome.wustl.edu 37 X 150565816 150565816 + Frame_Shift_Del DEL G G - TCGA-K1-A6RT-01A-32D-A33E-09 TCGA-K1-A6RT-10A-01D-A33H-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 2500 7d8c3144-ea5e-4383-9875-36d81b7fec6f 1fa603b9-e9b3-4f9d-b3fc-688e7b46617d X 150565816 150565816 G - DEL VMA21 ENST00000330374 human ensembl 74_37 +1 known frame_shift_del c.36 p.Q13fs 0.999 NULL pfam_VMA21-like_domain - no_errors VMA21 HGNC ENSG00000160131 tier1 11 0 0.00 17 2 10.53