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 FYB 0 genome.wustl.edu 37 5 39119670 39119670 + Missense_Mutation SNP T T G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 5 39119670 39119670 T G SNP FYB ENST00000540520 human ensembl 74_37 -1 known missense c.2235 p.E745D 1.000 superfamily_SH3_domain pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain - no_errors FYB HGNC ENSG00000082074 tier1 - - 49 0 0.00 48 32 40.00 37 0 0.00 35 31 46.97 RYR2 0 genome.wustl.edu 37 1 237863631 237863631 + Silent SNP G G A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 237863631 237863631 G A SNP RYR2 ENST00000360064 human ensembl 74_37 +1 known silent c.9225 p.Q3075 1.000 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 - - 50 0 0.00 130 69 34.67 128 0 0.00 122 50 29.07 TFDP3 0 genome.wustl.edu 37 X 132352121 132352121 + Missense_Mutation SNP T T A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 132352121 132352121 T A SNP TFDP3 ENST00000310125 human ensembl 74_37 -1 known missense c.167 p.Q56L 1.000 pirsf_Transcrpt_fac_DP pfam_Transc_factor_DP_C,pfam_E2F_TDP,pirsf_Transcrpt_fac_DP - no_errors TFDP3 HGNC ENSG00000183434 tier1 - - 135 0 0.00 156 102 39.53 65 0 0.00 48 29 37.66 FCGR2B 0 genome.wustl.edu 37 1 161641251 161641251 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 161641251 161641251 C T SNP FCGR2B ENST00000358671 human ensembl 74_37 +1 known missense c.203 p.T68I 0.932 smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FCGR2B HGNC ENSG00000072694 tier1 - - 200 0 0.00 503 59 10.50 62 0 0.00 77 12 13.33 ANKEF1 0 genome.wustl.edu 37 20 10030397 10030397 + Nonsense_Mutation SNP G G T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 20 10030397 10030397 G T SNP ANKEF1 ENST00000378380 human ensembl 74_37 +1 known nonsense c.1180 p.E394* 0.995 pfscan_Ankyrin_rpt-contain_dom pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_hand_dom,prints_Ankyrin_rpt - no_errors ANKEF1 HGNC ENSG00000132623 tier1 - - 37 0 0.00 52 34 39.53 61 0 0.00 36 31 46.27 KIAA2018 0 genome.wustl.edu 37 3 113374951 113374951 + Missense_Mutation SNP G G C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 3 113374951 113374951 G C SNP KIAA2018 ENST00000316407 human ensembl 74_37 -1 known missense c.5578 p.P1860A 0.940 NULL pfam_bHLH_dom,superfamily_bHLH_dom,smart_bHLH_dom,pfscan_bHLH_dom - no_errors KIAA2018 HGNC ENSG00000176542 tier1 - - 69 0 0.00 69 43 38.39 76 0 0.00 53 39 42.39 CYP2E1 0 genome.wustl.edu 37 10 135350749 135350749 + Missense_Mutation SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 10 135350749 135350749 C A SNP CYP2E1 ENST00000252945 human ensembl 74_37 +1 known missense c.1150 p.P384T 1.000 pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_B pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B - no_errors CYP2E1 HGNC ENSG00000130649 tier1 - - 40 0 0.00 15 50 76.92 101 0 0.00 22 57 72.15 CXCR2P1 0 genome.wustl.edu 37 2 218924727 218924727 + R SNP T T G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 2 218924727 218924727 T G SNP CXCR2P1 ENST00000439871 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors CXCR2P1 HGNC ENSG00000229754 tier1 - - 14 0 0.00 16 7 30.43 60 0 0.00 29 28 49.12 PRKCD 0 genome.wustl.edu 37 3 53218939 53218939 + Silent SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 3 53218939 53218939 C T SNP PRKCD ENST00000330452 human ensembl 74_37 +1 known silent c.837 p.L279 1.000 pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom - no_errors PRKCD HGNC ENSG00000163932 tier1 - - 34 0 0.00 40 37 48.05 49 0 0.00 20 24 54.55 TFPI 0 genome.wustl.edu 37 2 188349667 188349667 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 2 188349667 188349667 C T SNP TFPI ENST00000233156 human ensembl 74_37 -1 known missense c.406 p.G136S 1.000 pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m pirsf_Prot_inhib_I2_TFPI,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,smart_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m,pfscan_Prot_inh_Kunz-m - no_errors TFPI HGNC ENSG00000003436 tier1 - - 71 0 0.00 75 72 48.98 98 0 0.00 65 61 48.41 AEBP1 0 genome.wustl.edu 37 7 44153323 44153323 + Missense_Mutation SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 7 44153323 44153323 C A SNP AEBP1 ENST00000223357 human ensembl 74_37 +1 known missense c.2940 p.F980L 0.997 superfamily_CarboxyPept-like_regulatory,smart_Peptidase_M14 pfam_Peptidase_M14,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_CarboxyPept-like_regulatory,smart_Coagulation_fac_5/8-C_type_dom,smart_Peptidase_M14,pfscan_Coagulation_fac_5/8-C_type_dom,prints_Peptidase_M14 - no_errors AEBP1 HGNC ENSG00000106624 tier1 - - 53 0 0.00 52 52 50.00 57 1 1.72 22 23 50.00 C20orf194 0 genome.wustl.edu 37 20 3276587 3276587 + R SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 20 3276587 3276587 C T SNP C20orf194 ENST00000498079 human ensembl 74_37 -1 known rna NULL NULL 0.016 - - - no_errors C20orf194 HGNC ENSG00000088854 tier1 - - 12 0 0.00 15 12 44.44 37 0 0.00 26 15 36.59 PTGS2 0 genome.wustl.edu 37 1 186648506 186648506 + Missense_Mutation SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 186648506 186648506 C A SNP PTGS2 ENST00000367468 human ensembl 74_37 -1 known missense c.117 p.Q39H 0.620 pfscan_EG-like_dom pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_EG-like_dom,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr - no_errors PTGS2 HGNC ENSG00000073756 tier1 - - 35 0 0.00 98 38 27.94 136 0 0.00 182 77 29.73 BBS4 0 genome.wustl.edu 37 15 73022025 73022025 + Silent SNP G G A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 15 73022025 73022025 G A SNP BBS4 ENST00000395205 human ensembl 74_37 +1 known silent c.735 p.K245 1.000 pfscan_TPR-contain_dom pfam_TPR_2,pfam_TPR_1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors BBS4 HGNC ENSG00000140463 tier1 - - 71 0 0.00 92 58 38.67 81 0 0.00 55 37 40.22 TUBAL3 0 genome.wustl.edu 37 10 5436364 5436364 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 10 5436364 5436364 C T SNP TUBAL3 ENST00000380419 human ensembl 74_37 -1 known missense c.457 p.G153S 0.996 pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin - no_errors TUBAL3 HGNC ENSG00000178462 tier1 - - 29 0 0.00 57 16 21.92 106 1 0.93 112 27 19.29 TRPA1 0 genome.wustl.edu 37 8 72952031 72952031 + Missense_Mutation SNP G G A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 8 72952031 72952031 G A SNP TRPA1 ENST00000262209 human ensembl 74_37 -1 known missense c.2063 p.A688V 1.000 NULL pfam_Ankyrin_rpt,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt - no_errors TRPA1 HGNC ENSG00000104321 tier1 - - 28 0 0.00 24 8 25.00 111 0 0.00 75 47 38.21 DENND4A 0 genome.wustl.edu 37 15 65982790 65982790 + Nonsense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 15 65982790 65982790 C T SNP DENND4A ENST00000443035 human ensembl 74_37 -1 known nonsense c.4139 p.W1380* 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 - - 154 0 0.00 184 139 43.03 134 0 0.00 66 75 53.19 F13B 0 genome.wustl.edu 37 1 197024914 197024914 + Missense_Mutation SNP A A G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 197024914 197024914 A G SNP F13B ENST00000367412 human ensembl 74_37 -1 known missense c.1285 p.Y429H 0.434 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors F13B HGNC ENSG00000143278 tier1 rs201427054 - 28 0 0.00 52 26 33.33 102 0 0.00 79 41 34.17 AP3B2 0 genome.wustl.edu 37 15 83328314 83328314 + Nonstop_Mutation SNP A A C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 15 83328314 83328314 A C SNP AP3B2 ENST00000261722 human ensembl 74_37 -1 known nonstop c.3247 p.*1083G 1.000 NULL 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 - - 36 0 0.00 50 52 50.98 75 1 1.32 48 40 44.94 RFPL3 0 genome.wustl.edu 37 22 32754084 32754084 + Missense_Mutation SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 22 32754084 32754084 C A SNP RFPL3 ENST00000249007 human ensembl 74_37 +1 known missense c.26 p.T9N 0.003 NULL pfam_RDM_domain_RFPL,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin - no_errors RFPL3 HGNC ENSG00000128276 tier1 - - 121 0 0.00 149 103 40.87 71 0 0.00 40 39 49.37 FABP1 0 genome.wustl.edu 37 2 88423901 88423901 + R SNP G G A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 2 88423901 88423901 G A SNP FABP1 ENST00000495375 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FABP1 HGNC ENSG00000163586 tier1 - - 31 0 0.00 35 38 52.05 60 0 0.00 39 42 51.85 ZCCHC18 0 genome.wustl.edu 37 X 103360279 103360279 + R SNP T T A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 103360279 103360279 T A SNP ZCCHC18 ENST00000422784 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors ZCCHC18 HGNC ENSG00000166707 tier1 - - 64 0 0.00 84 67 44.37 123 0 0.00 91 44 32.59 LRRIQ3 0 genome.wustl.edu 37 1 74648303 74648303 + Silent SNP T T A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 74648303 74648303 T A SNP LRRIQ3 ENST00000354431 human ensembl 74_37 -1 known silent c.492 p.I164 0.990 NULL pfscan_IQ_motif_EF-hand-BS - no_errors LRRIQ3 HGNC ENSG00000162620 tier1 - - 63 0 0.00 87 55 38.73 63 0 0.00 43 36 45.57 NEFM 0 genome.wustl.edu 37 8 24774755 24774755 + Nonsense_Mutation SNP G G T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 8 24774755 24774755 G T SNP NEFM ENST00000221166 human ensembl 74_37 +1 known nonsense c.1387 p.E463* 1.000 NULL pfam_IF,pfam_Intermed_filament_D-bd,superfamily_Prefoldin,prints_Keratin_I - no_errors NEFM HGNC ENSG00000104722 tier1 - - 31 0 0.00 33 30 47.62 124 0 0.00 73 40 35.40 ATRNL1 0 genome.wustl.edu 37 10 117059564 117059564 + Silent SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 10 117059564 117059564 C A SNP ATRNL1 ENST00000355044 human ensembl 74_37 +1 known silent c.2436 p.G812 1.000 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 - - 81 0 0.00 10 68 87.18 137 0 0.00 19 64 77.11 RAET1K 0 genome.wustl.edu 37 6 150322718 150322718 + R SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 6 150322718 150322718 C T SNP RAET1K ENST00000533735 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors RAET1K HGNC ENSG00000218358 tier1 - - 124 0 0.00 133 107 44.58 49 0 0.00 34 29 46.03 DLG3 0 genome.wustl.edu 37 X 69699100 69699100 + Missense_Mutation SNP G G T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 69699100 69699100 G T SNP DLG3 ENST00000194900 human ensembl 74_37 +1 known missense c.1560 p.R520S 1.000 superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase,pfscan_SH3_domain pfam_GK/Ca_channel_bsu,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,superfamily_P-loop_NTPase,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_GK/Ca_channel_bsu,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin-like - no_errors DLG3 HGNC ENSG00000082458 tier1 - - 87 0 0.00 67 56 45.16 127 0 0.00 58 63 52.07 FRMPD3 0 genome.wustl.edu 37 X 106803532 106803532 + Missense_Mutation SNP C C G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 106803532 106803532 C G SNP FRMPD3 ENST00000276185 human ensembl 74_37 +1 known missense c.907 p.P303A 1.000 pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ - no_errors FRMPD3 HGNC ENSG00000147234 tier1 - - 27 0 0.00 36 25 40.98 91 0 0.00 59 36 37.89 STAB2 0 genome.wustl.edu 37 12 104054498 104054498 + Missense_Mutation SNP G G C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 12 104054498 104054498 G C SNP STAB2 ENST00000388887 human ensembl 74_37 +1 known missense c.1826 p.R609T 0.827 pfam_FAS1_domain,superfamily_FAS1_domain,smart_FAS1_domain,pfscan_FAS1_domain pfam_FAS1_domain,pfam_Link,superfamily_C-type_lectin_fold,superfamily_FAS1_domain,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,smart_EGF_laminin,smart_EGF-like_Ca-bd_dom,smart_FAS1_domain,smart_Link,pfscan_EG-like_dom,pfscan_FAS1_domain,pfscan_Link - no_errors STAB2 HGNC ENSG00000136011 tier1 - - 75 0 0.00 74 57 43.51 120 0 0.00 81 54 40.00 DNHD1 0 genome.wustl.edu 37 11 6569107 6569107 + Missense_Mutation SNP A A G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 11 6569107 6569107 A G SNP DNHD1 ENST00000254579 human ensembl 74_37 +1 known missense c.6742 p.S2248G 0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SRE - no_errors DNHD1 HGNC ENSG00000179532 tier1 - - 55 0 0.00 4 29 87.88 126 0 0.00 13 61 82.43 GIMAP6 0 genome.wustl.edu 37 7 150325422 150325422 + Silent SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 7 150325422 150325422 C A SNP GIMAP6 ENST00000328902 human ensembl 74_37 -1 known silent c.264 p.G88 0.008 pfam_AIG1,superfamily_P-loop_NTPase pfam_AIG1,superfamily_P-loop_NTPase - no_errors GIMAP6 HGNC ENSG00000133561 tier1 - - 51 0 0.00 46 45 49.45 117 0 0.00 64 49 43.36 EB1BP2 0 genome.wustl.edu 37 1 43637075 43637075 + R SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 43637075 43637075 C A SNP EB1BP2 ENST00000472982 human ensembl 74_37 -1 known rna NULL NULL 0.002 - - - no_errors EB1BP2 HGNC ENSG00000117395 tier1 - - 14 0 0.00 20 16 44.44 138 0 0.00 51 53 50.96 PLS3 0 genome.wustl.edu 37 X 114863597 114863597 + Missense_Mutation SNP A A T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 114863597 114863597 A T SNP PLS3 ENST00000355899 human ensembl 74_37 +1 known missense c.325 p.T109S 1.000 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_EF_hand_dom,smart_CH-domain,pfscan_CH-domain,pfscan_EF_hand_dom - no_errors PLS3 HGNC ENSG00000102024 tier1 - - 53 0 0.00 67 51 43.22 140 0 0.00 96 97 50.00 TSHZ2 0 genome.wustl.edu 37 20 51870593 51870593 + Missense_Mutation SNP G G A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 20 51870593 51870593 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.596 p.R199Q 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 rs139565246 - 51 0 0.00 47 59 55.66 65 0 0.00 42 48 53.33 ZAN 0 genome.wustl.edu 37 7 100364861 100364861 + Missense_Mutation SNP T T C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 7 100364861 100364861 T C SNP ZAN ENST00000546292 human ensembl 74_37 +1 known missense c.4841 p.L1614P 0.774 pfam_VWF_type-D,smart_VWF_type-D pfam_VWF_type-D,pfam_MAM_dom,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_ConA-like_lec_gl_sf,superfamily_TIL_dom,smart_MAM_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_MAM_dom - no_errors ZAN HGNC ENSG00000146839 tier1 - - 62 0 0.00 51 36 41.38 71 0 0.00 32 30 48.39 SYNCRIP 0 genome.wustl.edu 37 6 86333723 86333723 + Missense_Mutation SNP C C G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 6 86333723 86333723 C G SNP SYNCRIP ENST00000369622 human ensembl 74_37 -1 known missense c.774 p.Q258H 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP_R/Q_splicing_fac - no_errors SYNCRIP HGNC ENSG00000135316 tier1 - - 55 0 0.00 61 55 47.41 114 0 0.00 68 44 38.94 PCDH19 0 genome.wustl.edu 37 X 99662489 99662489 + Silent SNP G G C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 99662489 99662489 G C SNP PCDH19 ENST00000373034 human ensembl 74_37 -1 known silent c.1107 p.A369 0.312 pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH19 HGNC ENSG00000165194 tier1 - - 24 0 0.00 39 22 36.07 23 0 0.00 13 7 35.00 PRKD3 0 genome.wustl.edu 37 2 37483997 37483997 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 2 37483997 37483997 C T SNP PRKD3 ENST00000234179 human ensembl 74_37 -1 known missense c.2221 p.A741T 1.000 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,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors PRKD3 HGNC ENSG00000115825 tier1 - - 56 0 0.00 51 56 52.34 142 0 0.00 67 65 49.24 PLX2 0 genome.wustl.edu 37 1 208200207 208200207 + R SNP T T C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 208200207 208200207 T C SNP PLX2 ENST00000483048 human ensembl 74_37 -1 known rna NULL NULL 0.866 - - - no_errors PLX2 HGNC ENSG00000076356 tier1 - - 106 0 0.00 292 130 30.81 109 0 0.00 106 72 40.45 APOB 0 genome.wustl.edu 37 2 21231998 21231998 + Missense_Mutation SNP A A T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 2 21231998 21231998 A T SNP APOB ENST00000233242 human ensembl 74_37 -1 known missense c.7742 p.V2581E 0.991 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 - - 21 0 0.00 1 22 88.00 109 0 0.00 11 54 83.08 CD163 0 genome.wustl.edu 37 12 7640492 7640492 + Nonsense_Mutation SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 12 7640492 7640492 C A SNP CD163 ENST00000359156 human ensembl 74_37 -1 known nonsense c.1612 p.G538* 0.979 pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_SRCR pfam_SRCR,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,prints_SRCR,pfscan_SRCR - no_errors CD163 HGNC ENSG00000177575 tier1 - - 78 0 0.00 66 71 51.82 90 0 0.00 49 28 36.36 IKZF3 0 genome.wustl.edu 37 17 37922593 37922593 + Missense_Mutation SNP G G A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 17 37922593 37922593 G A SNP IKZF3 ENST00000346872 human ensembl 74_37 -1 known missense c.980 p.P327L 0.998 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors IKZF3 HGNC ENSG00000161405 tier1 - - 46 0 0.00 46 41 47.13 51 0 0.00 22 19 46.34 PCDHB13 0 genome.wustl.edu 37 5 140595974 140595974 + Missense_Mutation SNP G G T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 5 140595974 140595974 G T SNP PCDHB13 ENST00000341948 human ensembl 74_37 +1 known missense c.2279 p.G760V 0.015 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB13 HGNC ENSG00000187372 tier1 - - 134 0 0.00 141 103 42.21 24 0 0.00 24 18 42.86 GEMIN5 0 genome.wustl.edu 37 5 154282137 154282137 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 5 154282137 154282137 C T SNP GEMIN5 ENST00000285873 human ensembl 74_37 -1 known missense c.2828 p.G943E 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors GEMIN5 HGNC ENSG00000082516 tier1 - - 54 0 0.00 43 40 48.19 60 0 0.00 40 42 51.22 UGT1A5 0 genome.wustl.edu 37 2 234621847 234621847 + Missense_Mutation SNP A A C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 2 234621847 234621847 A C SNP UGT1A5 ENST00000373414 human ensembl 74_37 +1 known missense c.210 p.K70N 0.005 pfam_UDP_glucos_trans pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C - no_errors UGT1A5 HGNC ENSG00000240224 tier1 - - 63 0 0.00 74 58 43.94 83 0 0.00 55 34 38.20 ZP4 0 genome.wustl.edu 37 1 238048788 238048788 + Silent SNP T T G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 238048788 238048788 T G SNP ZP4 ENST00000366570 human ensembl 74_37 -1 known silent c.1063 p.R355 0.844 pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom pfam_ZP_dom,pfam_P_trefoil,superfamily_P_trefoil,smart_P_trefoil,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom - no_errors ZP4 HGNC ENSG00000116996 tier1 - - 57 0 0.00 121 42 25.77 75 0 0.00 113 53 31.93 CHDC2 0 genome.wustl.edu 37 X 36117934 36117934 + Missense_Mutation SNP A A G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 36117934 36117934 A G SNP CHDC2 ENST00000313548 human ensembl 74_37 +1 known missense c.790 p.M264V 0.003 NULL pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain - no_errors CHDC2 HGNC ENSG00000176034 tier1 - - 103 0 0.00 109 102 48.11 143 0 0.00 84 47 35.88 APOB 0 genome.wustl.edu 37 2 21231996 21231996 + Frame_Shift_Del DEL C C - TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C - C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 2 21231996 21231996 C - DEL APOB ENST00000233242 human ensembl 74_37 -1 known frame_shift_del c.7744 p.E2582fs 1.000 NULL pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N - no_errors APOB HGNC ENSG00000084674 tier1 21 0 0.00 3 21 87.50 107 0 0.00 13 52 80.00 MEST 0 genome.wustl.edu 37 7 130140375 130140375 + Splice_Site DEL T T - TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T - T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 7 130140375 130140375 T - DEL MEST ENST00000223215 human ensembl 74_37 +1 known splice_site_del c.647+2 e8+2 1.000 - - - no_errors MEST HGNC ENSG00000106484 tier1 46 0 0.00 57 42 42.42 79 0 0.00 54 29 34.94 PKHD1L1 0 genome.wustl.edu 37 8 110499030 110499030 + Frame_Shift_Del DEL A A - TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A - A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 8 110499030 110499030 A - DEL PKHD1L1 ENST00000378402 human ensembl 74_37 +1 known frame_shift_del c.9860 p.N3288fs 0.077 superfamily_Pectin_lyase_fold/virulence pfam_IPT,pfam_G8_domain,pfam_PA14,superfamily_Ig_E-set,superfamily_Pectin_lyase_fold/virulence,superfamily_Cupredoxin,smart_IPT,smart_PA14,smart_PbH1 - no_errors PKHD1L1 HGNC ENSG00000205038 tier1 82 0 0.00 100 82 45.05 95 0 0.00 49 56 53.33 DEFB107A 0 genome.wustl.edu 37 8 7673081 7673081 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 8 7673081 7673081 C T SNP DEFB107A ENST00000335021 human ensembl 74_37 -1 known missense c.70 p.A24T 0.998 NULL NULL - no_errors DEFB107A HGNC ENSG00000186572 tier1 - - 54 0 0.00 95 15 13.64 10 0 0.00 7 2 22.22 MBL1P 0 genome.wustl.edu 37 10 81680246 81680246 + R SNP A A T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 10 81680246 81680246 A T SNP MBL1P ENST00000480805 human ensembl 74_37 +1 known rna NULL NULL 0.997 - - - no_errors MBL1P HGNC ENSG00000242600 tier1 - - 64 0 0.00 12 59 81.94 87 0 0.00 4 44 91.67 TNF 0 genome.wustl.edu 37 6 31543603 31543603 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 6 31543603 31543603 C T SNP TNF ENST00000449264 human ensembl 74_37 +1 known missense c.85 p.R29W 0.008 prints_TNF_alpha pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_TNF_alpha,prints_TNF - no_errors TNF HGNC ENSG00000232810 tier1 - - 57 0 0.00 7 44 86.27 22 0 0.00 6 10 62.50 TP53 0 genome.wustl.edu 37 17 7578457 7578457 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 17 7578457 7578457 C T SNP TP53 ENST00000269305 human ensembl 74_37 -1 known missense c.473 p.R158H 0.989 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 - - 31 0 0.00 9 36 80.00 57 0 0.00 1 30 96.77 TRIM21 0 genome.wustl.edu 37 11 4409555 4409555 + Missense_Mutation SNP T T C TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 11 4409555 4409555 T C SNP TRIM21 ENST00000254436 human ensembl 74_37 -1 known missense c.710 p.H237R 0.016 NULL pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Ubox_domain,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin,prints_Znf_B-box_chordata - no_errors TRIM21 HGNC ENSG00000132109 tier1 - - 46 0 0.00 11 41 78.85 45 0 0.00 5 19 79.17 TTC40 0 genome.wustl.edu 37 10 134755529 134755529 + Silent SNP G G A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 10 134755529 134755529 G A SNP TTC40 ENST00000368582 human ensembl 74_37 -1 known silent c.129 p.S43 1.000 NULL NULL - no_errors TTC40 HGNC ENSG00000171811 tier1 - - 70 0 0.00 15 45 75.00 97 0 0.00 5 54 91.53 SLC5A4 0 genome.wustl.edu 37 22 32617002 32617002 + Missense_Mutation SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 22 32617002 32617002 C A SNP SLC5A4 ENST00000266086 human ensembl 74_37 -1 known missense c.1673 p.R558L 0.999 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A4 HGNC ENSG00000100191 tier1 - - 87 0 0.00 143 14 8.92 101 0 0.00 107 10 8.55 PRKDC 0 genome.wustl.edu 37 8 48746783 48746783 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 8 48746783 48746783 C T SNP PRKDC ENST00000314191 human ensembl 74_37 -1 known missense c.8123 p.G2708E 0.962 NULL pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom - no_errors PRKDC HGNC ENSG00000253729 tier1 - - 117 0 0.00 233 22 8.63 84 0 0.00 122 12 8.96 RIMS1 0 genome.wustl.edu 37 6 73043425 73043425 + Missense_Mutation SNP C C G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C G C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 6 73043425 73043425 C G SNP RIMS1 ENST00000521978 human ensembl 74_37 +1 known missense c.4253 p.T1418R 1.000 NULL pfam_C2_dom,pfam_PDZ,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,superfamily_PDZ,smart_PDZ,smart_C2_dom,pfscan_C2_dom,pfscan_PDZ,pfscan_Znf_FYVE-typ,pfscan_Znf_FYVE-rel - no_errors RIMS1 HGNC ENSG00000079841 tier1 - - 59 0 0.00 97 11 10.19 102 0 0.00 115 9 7.26 FOXO4 0 genome.wustl.edu 37 X 70320816 70320816 + Missense_Mutation SNP A A G TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 70320816 70320816 A G SNP FOXO4 ENST00000374259 human ensembl 74_37 +1 known missense c.736 p.N246D 0.990 NULL pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXO4 HGNC ENSG00000184481 tier1 - - 41 0 0.00 87 10 10.20 74 1 1.33 75 8 9.64 DUSP12 0 genome.wustl.edu 37 1 161726620 161726639 + Frame_Shift_Del DEL GTATGGTGAACAGTGCTCTT GTATGGTGAACAGTGCTCTT - TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 GTATGGTGAACAGTGCTCTT GTATGGTGAACAGTGCTCTT GTATGGTGAACAGTGCTCTT - GTATGGTGAACAGTGCTCTT GTATGGTGAACAGTGCTCTT Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 1 161726620 161726639 GTATGGTGAACAGTGCTCTT - DEL DUSP12 ENST00000367943 human ensembl 74_37 +1 known frame_shift_del c.906_925 p.Y303fs 1.000:1.000:1.000:1.000:1.000:1.000:0.997:1.000:1.000:0.997:1.000:1.000:1.000:1.000:1.000:1.000:1.000:0.996:0.000:0.951 pirsf_DUSP12 pfam_Dual-sp_phosphatase_cat-dom,smart_Dual-sp_phosphatase_subgr_cat,pirsf_DUSP12,pfscan_Znf_C2H2,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat - no_errors DUSP12 HGNC ENSG00000081721 tier1 149 0 0.00 171 8 4.47 149 0 0.00 171 8 4.47 SRL 0 genome.wustl.edu 37 16 4257305 4257305 + Missense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 16 4257305 4257305 C T SNP SRL ENST00000572111 human ensembl 74_37 -1 known missense c.862 p.A288T 0.000 NULL NULL - no_errors SRL HGNC ENSG00000185739 tier1 - - 27 0 0.00 41 41 50.00 35 1 2.78 24 11 31.43 AR 0 genome.wustl.edu 37 X 66765155 66765155 + Missense_Mutation SNP T T A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 66765155 66765155 T A SNP AR ENST00000374690 human ensembl 74_37 +1 known missense c.167 p.L56Q 0.942 pfam_Andrgn_rcpt pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt - no_errors AR HGNC ENSG00000169083 tier1 - - 57 0 0.00 70 7 9.09 6 0 0.00 4 0 0.00 ENSG00000256616 0 genome.wustl.edu 37 18 12076541 12076542 + R INS - - CGCCGCCGCCGC TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 18 12076541 12076542 - CGCCGCCGCCGC INS ENSG00000256616 ENST00000591780 human ensembl 74_37 -1 known rna NULL NULL 0.834:0.844 - - - no_errors RP11-815J4.6 Clone_based_vega_gene ENSG00000256616 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 ENSG00000270726 0 genome.wustl.edu 37 X 155252987 155252988 + R INS - - CAGCACCAC TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 X 155252987 155252988 - CAGCACCAC INS ENSG00000270726 ENST00000285718 human ensembl 74_37 +1 known rna NULL NULL 0.959:1.000 - - - no_errors AJ271736.10 Clone_based_vega_gene ENSG00000270726 tier1 0 0 0.00 0 1 100.00 0 0 0.00 0 1 100.00 GOLGA6L6 0 genome.wustl.edu 37 15 20739541 20739541 + Nonsense_Mutation SNP C C A TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 15 20739541 20739541 C A SNP GOLGA6L6 ENST00000427390 human ensembl 74_37 -1 known nonsense c.2209 p.E737* 0.002 NULL superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin - no_errors GOLGA6L6 HGNC ENSG00000215405 tier1 - - 27 0 0.00 35 24 40.68 0 0 0.00 0 0 0.00 PCNT 0 genome.wustl.edu 37 21 47848501 47848501 + Nonsense_Mutation SNP C C T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 21 47848501 47848501 C T SNP PCNT ENST00000359568 human ensembl 74_37 +1 known nonsense c.7687 p.Q2563* 1.000 NULL pfam_PACT_domain - no_errors PCNT HGNC ENSG00000160299 tier1 - - 12 0 0.00 10 11 52.38 3 0 0.00 3 2 40.00 RNF212 0 genome.wustl.edu 37 4 1087327 1087328 + In_Frame_Ins INS - - CTGCCCAGGCTGGAGCCAGCC TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 4 1087327 1087328 - CTGCCCAGGCTGGAGCCAGCC INS RNF212 ENST00000333673 human ensembl 74_37 -1 known in_frame_ins c.722_721 p.S241in_frame_insWLAPAWAA 0.085:0.000 NULL pfscan_Znf_RING - no_errors RNF212 HGNC ENSG00000178222 tier1 2 0 0.00 7 4 36.36 2 0 0.00 7 4 36.36 ENSG00000223697 0 genome.wustl.edu 37 8 133854714 133854715 + R INS - - T TCGA-DX-A48O-01A-11D-A307-09 TCGA-DX-A48O-10A-01D-A307-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 6e58860a-9757-4492-9d72-d8c3cfec34f4 8d3565e0-e65b-4328-bdf5-e1424e9d0ba8 8 133854714 133854715 - T INS ENSG00000223697 ENST00000608375 human ensembl 74_37 -1 known rna NULL NULL 0.014:0.003 - - - no_errors AF230666.2 Clone_based_vega_gene ENSG00000223697 tier1 24 0 0.00 42 5 10.64 48 0 0.00 64 2 3.03