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 SLCO3A1 0 genome.wustl.edu 37 15 92647634 92647634 + Missense_Mutation SNP C C A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 15 92647634 92647634 C A SNP SLCO3A1 ENST00000318445 human ensembl 74_37 +1 known missense c.871 p.P291T 0.995 pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter pfam_OA_transporter,pfam_MFS,pfam_Kazal_dom,superfamily_MFS_dom_general_subst_transpt,tigrfam_OA_transporter - no_errors SLCO3A1 HGNC ENSG00000176463 tier1 - - 90 0 0.00 61 24 27.91 64 0 0.00 36 9 20.00 HIST1H1B 0 genome.wustl.edu 37 6 27834759 27834759 + Silent SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 6 27834759 27834759 C T SNP HIST1H1B ENST00000331442 human ensembl 74_37 -1 known silent c.549 p.P183 0.634 prints_Histone_H5 pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1B HGNC ENSG00000184357 tier1 - - 64 0 0.00 21 18 46.15 85 0 0.00 50 19 27.54 STAT2 0 genome.wustl.edu 37 12 56743168 56743168 + Nonsense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 12 56743168 56743168 C T SNP STAT2 ENST00000418572 human ensembl 74_37 -1 putative nonsense c.1371 p.W457* 0.000 NULL pfam_STAT_TF_alpha,pfam_STAT_TF_D-bd,pfam_STAT_TF_prot_interaction,superfamily_STAT_TF_coiled-coil,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction - no_errors STAT2 HGNC ENSG00000170581 tier1 - - 97 0 0.00 112 1257 91.82 153 0 0.00 131 2157 94.07 RAVER2 0 genome.wustl.edu 37 1 65247087 65247087 + Missense_Mutation SNP G G A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 1 65247087 65247087 G A SNP RAVER2 ENST00000294428 human ensembl 74_37 +1 known missense c.811 p.V271I 0.016 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom - no_errors RAVER2 HGNC ENSG00000162437 tier1 - - 68 0 0.00 51 34 40.00 83 0 0.00 64 29 31.18 STAT2 0 genome.wustl.edu 37 12 56743279 56743279 + Silent SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 12 56743279 56743279 C T SNP STAT2 ENST00000314128 human ensembl 74_37 -1 known silent c.1272 p.V424 0.990 pfam_STAT_TF_D-bd,superfamily_p53-like_TF_D-bd pfam_STAT_TF_D-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_D-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2 - no_errors STAT2 HGNC ENSG00000170581 tier1 - - 79 0 0.00 73 1135 93.88 106 1 0.93 123 1769 93.45 POLN 0 genome.wustl.edu 37 4 2181178 2181178 + Missense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 4 2181178 2181178 C T SNP POLN ENST00000382865 human ensembl 74_37 -1 known missense c.1036 p.G346R 0.564 superfamily_RNaseH-like_dom pfam_D-dir_D_pol_A_palm_dom,superfamily_RNaseH-like_dom,smart_D-dir_D_pol_A_palm_dom,prints_D_polymerase_A - no_errors POLN HGNC ENSG00000130997 tier1 - - 37 0 0.00 26 9 25.71 130 1 0.76 68 34 33.33 AP2A2 0 genome.wustl.edu 37 11 993375 993375 + Missense_Mutation SNP G G C TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 11 993375 993375 G C SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1547 p.R516T 0.970 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 tier1 - - 54 0 0.00 56 9 13.85 51 0 0.00 29 4 11.76 DCLK3 0 genome.wustl.edu 37 3 36759633 36759633 + Missense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 3 36759633 36759633 C T SNP DCLK3 ENST00000416516 human ensembl 74_37 -1 known missense c.1621 p.V541M 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,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors DCLK3 HGNC ENSG00000163673 tier1 - - 40 0 0.00 32 16 33.33 78 0 0.00 59 28 32.18 DGCR2 0 genome.wustl.edu 37 22 19026588 19026588 + Silent SNP C C A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 22 19026588 19026588 C A SNP DGCR2 ENST00000263196 human ensembl 74_37 -1 known silent c.1443 p.G481 0.306 NULL pfam_LDrepeatLR_classA_rpt,superfamily_C-type_lectin_fold,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_C-type_lectin,smart_VWF_C,pfscan_LDrepeatLR_classA_rpt,pfscan_C-type_lectin - no_errors DGCR2 HGNC ENSG00000070413 tier1 - - 109 0 0.00 64 36 35.64 46 0 0.00 48 24 33.33 SENP2 0 genome.wustl.edu 37 3 185316763 185316763 + Missense_Mutation SNP A A T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 3 185316763 185316763 A T SNP SENP2 ENST00000439684 human ensembl 74_37 +1 known missense c.175 p.I59F 0.965 NULL NULL - no_errors SENP2 HGNC ENSG00000163904 tier1 - - 48 0 0.00 20 38 65.52 132 0 0.00 27 38 58.46 BAI3 0 genome.wustl.edu 37 6 70034783 70034783 + Missense_Mutation SNP C C A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 6 70034783 70034783 C A SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2834 p.T945N 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 122 0 0.00 106 40 27.40 69 0 0.00 53 29 35.37 RYR1 0 genome.wustl.edu 37 19 38951142 38951142 + Missense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 19 38951142 38951142 C T SNP RYR1 ENST00000359596 human ensembl 74_37 +1 known missense c.2488 p.R830W 0.739 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 rs142548565 - 65 0 0.00 28 15 34.88 20 0 0.00 22 12 35.29 AKAP6 0 genome.wustl.edu 37 14 33147640 33147640 + Missense_Mutation SNP A A G TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 A A A G A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 14 33147640 33147640 A G SNP AKAP6 ENST00000280979 human ensembl 74_37 +1 known missense c.2854 p.K952E 1.000 NULL smart_Spectrin/alpha-actinin - no_errors AKAP6 HGNC ENSG00000151320 tier1 - - 58 0 0.00 46 16 25.81 152 0 0.00 45 21 30.88 SENP1 0 genome.wustl.edu 37 12 48459425 48459425 + Missense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 12 48459425 48459425 C T SNP SENP1 ENST00000004980 human ensembl 74_37 -1 known missense c.1073 p.R358H 1.000 NULL pfam_Peptidase_C48,pfscan_Peptidase_C48 - no_errors SENP1 HGNC ENSG00000079387 tier1 - - 42 0 0.00 25 8 23.53 111 1 0.89 59 35 37.23 PKLR 0 genome.wustl.edu 37 1 155269901 155269901 + Missense_Mutation SNP T T C TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 1 155269901 155269901 T C SNP PKLR ENST00000342741 human ensembl 74_37 -1 known missense c.271 p.I91V 1.000 pfam_Pyrv_Knase_brl,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,tigrfam_Pyr_Knase pfam_Pyrv_Knase_brl,pfam_Pyrv_Knase_C,superfamily_Pyrv/PenolPyrv_Kinase-like_dom,superfamily_Pyrv_Knase_C,superfamily_Pyrv_Knase-like_insert_dom,prints_Pyr_Knase,tigrfam_Pyr_Knase - no_errors PKLR HGNC ENSG00000143627 tier1 - - 70 0 0.00 42 24 36.36 111 0 0.00 66 40 37.74 LINC00029 0 genome.wustl.edu 37 20 61665964 61665964 + R SNP A A T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 A A A T A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 20 61665964 61665964 A T SNP LINC00029 ENST00000370341 human ensembl 74_37 -1 known rna NULL NULL 0.001 - - - no_errors LINC00029 HGNC ENSG00000125514 tier1 - - 45 0 0.00 27 12 30.77 78 0 0.00 34 21 38.18 GAL3ST1 0 genome.wustl.edu 37 22 30950947 30950947 + Missense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 22 30950947 30950947 C T SNP GAL3ST1 ENST00000338911 human ensembl 74_37 -1 known missense c.1265 p.R422Q 0.346 NULL pfam_Gal-3-0_sulfotransfrase,superfamily_P-loop_NTPase - no_errors GAL3ST1 HGNC ENSG00000128242 tier1 - - 49 0 0.00 30 23 43.40 49 0 0.00 20 22 52.38 EPHB1 0 genome.wustl.edu 37 3 134644703 134644703 + Missense_Mutation SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 3 134644703 134644703 C T SNP EPHB1 ENST00000398015 human ensembl 74_37 +1 known missense c.104 p.T35M 1.000 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHB1 HGNC ENSG00000154928 tier1 - - 35 0 0.00 19 30 61.22 104 0 0.00 38 51 57.30 ASTN1 0 genome.wustl.edu 37 1 176903441 176903441 + Missense_Mutation SNP T T C TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 T T T C T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 1 176903441 176903441 T C SNP ASTN1 ENST00000367654 human ensembl 74_37 -1 known missense c.2542 p.T848A 0.998 smart_MACPF superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3 - no_errors ASTN1 HGNC ENSG00000152092 tier1 - - 28 0 0.00 33 15 31.25 113 0 0.00 53 30 36.14 SLC4A4 0 genome.wustl.edu 37 4 72412086 72412086 + Nonsense_Mutation SNP T T A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 T T T A T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 4 72412086 72412086 T A SNP SLC4A4 ENST00000425175 human ensembl 74_37 +1 known nonsense c.2462 p.L821* 1.000 pfam_HCO3_transpt_C,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 SLC4A4 HGNC ENSG00000080493 tier1 - - 117 0 0.00 62 23 27.06 81 0 0.00 61 20 24.69 TNPO3 0 genome.wustl.edu 37 7 128640525 128640525 + Silent SNP A A C TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 A A A C A A Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 7 128640525 128640525 A C SNP TNPO3 ENST00000393245 human ensembl 74_37 -1 known silent c.969 p.T323 0.999 superfamily_ARM-type_fold pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold - no_errors TNPO3 HGNC ENSG00000064419 tier1 - - 22 0 0.00 26 8 23.53 92 0 0.00 64 34 34.69 EPHB2 0 genome.wustl.edu 37 1 23233390 23233390 + Silent SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 1 23233390 23233390 C T SNP EPHB2 ENST00000400191 human ensembl 74_37 +1 known silent c.2076 p.S692 1.000 pirsf_Tyr_kinase_ephrin_rcpt,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 pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHB2 HGNC ENSG00000133216 tier1 - - 35 0 0.00 28 22 44.00 74 0 0.00 45 27 37.50 AP2A2 0 genome.wustl.edu 37 11 993284 993284 + Missense_Mutation SNP G G A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 11 993284 993284 G A SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1456 p.A486T 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 tier1 - - 61 0 0.00 54 10 15.62 52 0 0.00 36 6 14.29 ENSG00000250992 0 genome.wustl.edu 37 5 175467785 175467785 + R SNP G G A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 5 175467785 175467785 G A SNP ENSG00000250992 ENST00000509643 human ensembl 74_37 +1 known rna NULL NULL 0.037 - - - no_errors RP11-826N14.1 Clone_based_vega_gene ENSG00000250992 tier1 rs187668175 GMAF=0.0005 134 0 0.00 138 20 12.66 129 0 0.00 116 16 12.12 CXorf22 0 genome.wustl.edu 37 X 35969300 35969300 + Missense_Mutation SNP G G T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G G T G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 X 35969300 35969300 G T SNP CXorf22 ENST00000297866 human ensembl 74_37 +1 known missense c.709 p.V237F 0.923 NULL superfamily_PapD-like - no_errors CXorf22 HGNC ENSG00000165164 tier1 - - 18 0 0.00 5 12 70.59 38 0 0.00 13 20 60.61 NKX2-2 0 genome.wustl.edu 37 20 21492811 21492811 + Missense_Mutation SNP C C A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 20 21492811 21492811 C A SNP NKX2-2 ENST00000377142 human ensembl 74_37 -1 known missense c.572 p.G191V 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-2 HGNC ENSG00000125820 tier1 - - 120 0 0.00 54 36 40.00 36 0 0.00 19 7 26.92 RNF43 0 genome.wustl.edu 37 17 56435245 56435245 + Missense_Mutation SNP C C A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C A C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 17 56435245 56435245 C A SNP RNF43 ENST00000407977 human ensembl 74_37 -1 known missense c.1892 p.S631I 0.002 NULL pfam_Znf_C3HC4_RING-type,superfamily_PAS,smart_Znf_RING,pfscan_Znf_RING - no_errors RNF43 HGNC ENSG00000108375 tier1 - - 68 0 0.00 32 29 47.54 49 0 0.00 13 14 51.85 GLT8D2 0 genome.wustl.edu 37 12 104397053 104397053 + Missense_Mutation SNP T T G TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 T T T G T T Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 12 104397053 104397053 T G SNP GLT8D2 ENST00000360814 human ensembl 74_37 -1 known missense c.144 p.E48D 0.171 NULL pfam_Glyco_trans_8 - no_errors GLT8D2 HGNC ENSG00000120820 tier1 - - 47 0 0.00 39 27 40.30 142 0 0.00 54 36 40.00 XYLB 0 genome.wustl.edu 37 3 38411731 38411732 + R INS - - CACACACACA TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 - - - CACACACACA - - Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 3 38411731 38411732 - CACACACACA INS XYLB ENST00000487569 human ensembl 74_37 +1 putative rna NULL NULL 0.000:0.000 - - - no_errors XYLB HGNC ENSG00000093217 tier1 15 0 0.00 12 2 14.29 15 0 0.00 12 2 14.29 DCX 0 genome.wustl.edu 37 X 110644349 110644349 + Missense_Mutation SNP G G A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G G A G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 X 110644349 110644349 G A SNP DCX ENST00000338081 human ensembl 74_37 -1 known missense c.817 p.R273W 1.000 smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom pfam_Doublecortin_dom,smart_Doublecortin_dom,pirsf_Doublecortin_chordata,pfscan_Doublecortin_dom - no_errors DCX HGNC ENSG00000077279 tier1 rs104894780 - 27 0 0.00 17 31 63.27 34 0 0.00 4 22 84.62 HFM1 0 genome.wustl.edu 37 1 91818856 91818856 + Silent SNP C C T TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 C C C T C C Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 1 91818856 91818856 C T SNP HFM1 ENST00000370425 human ensembl 74_37 -1 known silent c.1686 p.R562 1.000 superfamily_P-loop_NTPase,pfscan_Helicase_C pfam_Sec63-dom,pfam_D/R_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors HFM1 HGNC ENSG00000162669 tier1 - - 34 0 0.00 37 8 17.78 114 0 0.00 78 6 7.14 AP2A2 0 genome.wustl.edu 37 11 993358 993358 + Missense_Mutation SNP G G C TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G G C G G Unknown Valid Somatic Phase_IV WXS Hybrid_Capture_Illumina_Seq Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 11 993358 993358 G C SNP AP2A2 ENST00000332231 human ensembl 74_37 +1 known missense c.1530 p.L510F 1.000 pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP2_complex_asu pfam_Clathrin/coatomer_adapt-like_N,pfam_Clathrin_a-adaptin_app_sub_C,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP2_complex_asu - no_errors AP2A2 HGNC ENSG00000183020 tier1 - - 62 0 0.00 65 11 14.29 54 0 0.00 41 4 8.89 FAM182B 0 genome.wustl.edu 37 20 25840516 25840516 + R SNP T T C TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 20 25840516 25840516 T C SNP FAM182B ENST00000584356 human ensembl 74_37 -1 known rna NULL NULL 0.024 - - - no_errors FAM182B HGNC ENSG00000175170 tier1 - - 63 0 0.00 37 5 11.90 9 0 0.00 7 0 0.00 LOR 0 genome.wustl.edu 37 1 153233991 153233992 + In_Frame_Ins INS - - CTCTGGCGGCGG TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 1 153233991 153233992 - CTCTGGCGGCGG INS LOR ENST00000368742 human ensembl 74_37 +1 known in_frame_ins c.566_567 p.193in_frame_insGSGG 0.014:0.200 NULL NULL - no_errors LOR HGNC ENSG00000203782 tier1 0 0 0.00 3 0 0.00 0 0 0.00 3 0 0.00 SPPL2B 0 genome.wustl.edu 37 19 2341094 2341101 + R DEL CTCCCTGG CTCCCTGG - TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 CTCCCTGG CTCCCTGG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 19 2341094 2341101 CTCCCTGG - DEL SPPL2B ENST00000592738 human ensembl 74_37 +1 known rna NULL NULL 0.000:0.000:0.010:0.001:0.000:0.000:0.001:0.000 - - - no_errors SPPL2B HGNC ENSG00000005206 tier1 0 0 0.00 0 0 0.00 0 0 0.00 0 0 0.00 WASH4P 0 genome.wustl.edu 37 16 64458 64458 + Missense_Mutation SNP G G A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 16 64458 64458 G A SNP WASH4P ENST00000326592 human ensembl 74_37 -1 novel missense c.1357 p.R453C 1.000 NULL pfam_WASH1_WAHD - no_errors WASH4P HGNC ENSG00000234769 tier1 rs12444477 - 58 0 0.00 47 5 9.62 0 0 0.00 0 0 0.00 GPR78 0 genome.wustl.edu 37 4 8583114 8583114 + Silent SNP G G A TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 4 8583114 8583114 G A SNP GPR78 ENST00000382487 human ensembl 74_37 +1 known silent c.405 p.L135 1.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR78 HGNC ENSG00000155269 tier1 - - 29 0 0.00 10 3 23.08 4 0 0.00 1 2 66.67 PGBD2 0 genome.wustl.edu 37 1 249212342 249212348 + Frame_Shift_Del DEL TTGCCTG TTGCCTG - TCGA-DX-A3LT-01A-12D-A21Q-09 TCGA-DX-A3LT-10A-01D-A21Q-09 TTGCCTG TTGCCTG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq a2f02ff7-8433-4cb5-9324-34f13edeaca1 c31a8d8b-6d3a-4e91-a25a-0a4791b3a0c2 1 249212342 249212348 TTGCCTG - DEL PGBD2 ENST00000329291 human ensembl 74_37 +1 known frame_shift_del c.1559_1565 p.I520fs 0.060:0.048:0.922:0.964:0.963:0.966:0.961 NULL NULL - no_errors PGBD2 HGNC ENSG00000185220 tier1 59 0 0.00 48 3 5.88 59 0 0.00 48 3 5.88