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_WU start_WU stop_WU reference_WU variant_WU type_WU gene_name_WU transcript_name_WU transcript_species_WU transcript_source_WU transcript_version_WU strand_WU transcript_status_WU trv_type_WU c_position_WU amino_acid_change_WU ucsc_cons_WU domain_WU all_domains_WU deletion_substructures_WU transcript_error_WU default_gene_name_WU gene_name_source_WU ensembl_gene_id normal_ref_reads normal_var_reads normal_vaf tumor_ref_reads tumors_var_reads tumor_vaf EVS_EA EVS_AA EVS_All A2ML1 0 genome.wustl.edu 37 12 8975820 8975820 + Silent SNP C C A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 12 8975820 8975820 C A SNP A2ML1 ENST00000299698 human ensembl 69_37n +1 known silent c.105 p.S35 0.801 NULL pfam_A2M_comp,pfam_Macroglobln_a2,pfam_A2M_N_2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors A2ML1 HGNC ENSG00000166535 227 0 0.00 184 79 30.04 - - - ALG9 0 genome.wustl.edu 37 11 111740957 111740957 + RNA SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 11 111740957 111740957 G A SNP ALG9 ENST00000524386 human ensembl 69_37n -1 known rna NULL NULL 1.000 - - - no_errors ALG9 HGNC ENSG00000086848 72 0 0.00 80 10 11.11 - - - ATG2A 0 genome.wustl.edu 37 11 64668020 64668020 + Missense_Mutation SNP C C T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 11 64668020 64668020 C T SNP ATG2A ENST00000418259 human ensembl 69_37n -1 novel missense c.3820 p.A1274T 0.008 NULL pfam_Autophagy-rel_C - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region ATG2A HGNC ENSG00000110046 54 0 0.00 28 17 37.78 - - - C1orf194 0 genome.wustl.edu 37 1 109649198 109649198 + Missense_Mutation SNP T T C TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 1 109649198 109649198 T C SNP C1orf194 ENST00000369948 human ensembl 69_37n -1 known missense c.398 p.N133S 1.000 NULL pfam_DUF3695 - no_errors C1orf194 HGNC ENSG00000179902 342 0 0.00 248 123 32.71 - - - C6 0 genome.wustl.edu 37 5 41149444 41149444 + Missense_Mutation SNP C C T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 5 41149444 41149444 C T SNP C6 ENST00000263413 human ensembl 69_37n -1 known missense c.2522 p.R841H 0.177 NULL pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C6 HGNC ENSG00000039537 293 0 0.00 241 95 28.19 - - - CACNA1E 0 genome.wustl.edu 37 1 181702838 181702838 + Missense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 1 181702838 181702838 G A SNP CACNA1E ENST00000367573 human ensembl 69_37n +1 known missense c.3214 p.V1072I 0.891 prints_VDCC_R_a1su pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su - no_errors CACNA1E HGNC ENSG00000198216 32 0 0.00 43 6 12.24 - - - CAST 0 genome.wustl.edu 37 5 96086348 96086348 + Nonsense_Mutation SNP T T A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 5 96086348 96086348 T A SNP CAST ENST00000437034 human ensembl 69_37n +1 novel nonsense c.492 p.C164* 1.000 pfam_Prot_inh_calpain pfam_Prot_inh_calpain - no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region CAST HGNC ENSG00000153113 191 0 0.00 104 62 37.35 - - - CC2D1B 0 genome.wustl.edu 37 1 52820569 52820569 + Missense_Mutation SNP C C T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 1 52820569 52820569 C T SNP CC2D1B ENST00000371586 human ensembl 69_37n -1 known missense c.2300 p.R767Q 1.000 pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep - no_errors CC2D1B HGNC ENSG00000154222 463 0 0.00 316 159 33.47 - - - DSC3 0 genome.wustl.edu 37 18 28574329 28574329 + Nonsense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 18 28574329 28574329 G A SNP DSC3 ENST00000360428 human ensembl 69_37n -1 known nonsense c.2503 p.R835* 0.000 pfam_Cadherin_cytoplasmic-dom pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,prints_Desmocollin,prints_Desmo_cadherin,pfscan_Cadherin - no_errors DSC3 HGNC ENSG00000134762 88 0 0.00 111 42 27.45 - - - EDN1 0 genome.wustl.edu 37 6 12294560 12294560 + Silent SNP G G T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 6 12294560 12294560 G T SNP EDN1 ENST00000379375 human ensembl 69_37n +1 known silent c.456 p.G152 0.008 NULL pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D - no_errors EDN1 HGNC ENSG00000078401 467 0 0.00 305 141 31.61 - - - EPDR1 0 genome.wustl.edu 37 7 37960286 37960286 + Frame_Shift_Del DEL A A - TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 7 37960286 37960286 A - DEL EPDR1 ENST00000559325 human ensembl 69_37n +1 known frame_shift_del c.105 p.A36fs 0.042 NULL pfam_Ependymin,smart_Ependymin,prints_Ependymin - no_errors EPDR1 HGNC ENSG00000086289 37 0 0.00 38 5 11.11 - - - FLT1 0 genome.wustl.edu 37 13 29005430 29005430 + Silent SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 13 29005430 29005430 G A SNP FLT1 ENST00000282397 human ensembl 69_37n -1 known silent c.831 p.S277 0.000 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR1_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N - no_errors FLT1 HGNC ENSG00000102755 328 0 0.00 105 128 54.94 - - - FRMPD2 0 genome.wustl.edu 37 10 49431219 49431219 + Silent SNP G G T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 10 49431219 49431219 G T SNP FRMPD2 ENST00000374201 human ensembl 69_37n -1 known silent c.1263 p.T421 0.994 pfam_FERM_N,smart_Band_41_domain,pfscan_FERM_domain pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_PDZ,superfamily_FERM_central,superfamily_Kinase-like_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,pfscan_FERM_domain,pfscan_PDZ,prints_Band_41_fam - no_errors FRMPD2 HGNC ENSG00000170324 163 0 0.00 143 29 16.86 - - - KIAA0146 0 genome.wustl.edu 37 8 48508402 48508402 + Missense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 8 48508402 48508402 G A SNP KIAA0146 ENST00000297423 human ensembl 69_37n +1 known missense c.1127 p.C376Y 0.964 NULL NULL - no_errors KIAA0146 HGNC ENSG00000164808 446 1 0.22 284 127 30.90 - - - MOCOS 0 genome.wustl.edu 37 18 33785222 33785222 + Missense_Mutation SNP A A G TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 18 33785222 33785222 A G SNP MOCOS ENST00000261326 human ensembl 69_37n +1 known missense c.1201 p.I401V 0.001 pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom - no_errors MOCOS HGNC ENSG00000075643 299 0 0.00 260 86 24.78 - - - MSL2 0 genome.wustl.edu 37 3 135870774 135870774 + Missense_Mutation SNP T T C TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 3 135870774 135870774 T C SNP MSL2 ENST00000309993 human ensembl 69_37n -1 known missense c.949 p.M317V 0.997 NULL pfscan_Znf_RING - no_errors MSL2 HGNC ENSG00000174579 255 0 0.00 300 94 23.86 - - - NDUFS3 0 genome.wustl.edu 37 11 47605938 47605938 + Missense_Mutation SNP G G T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 11 47605938 47605938 G T SNP NDUFS3 ENST00000263774 human ensembl 69_37n +1 known missense c.700 p.D234Y 1.000 NULL pfam_NADH_UbQ_OxRdtase_30kDa_su,tigrfam_NADH_DH_suC - no_errors NDUFS3 HGNC ENSG00000213619 193 0 0.00 138 47 25.41 - - - NOTCH3 0 genome.wustl.edu 37 19 15281153 15281153 + Silent SNP C C T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 19 15281153 15281153 C T SNP NOTCH3 ENST00000263388 human ensembl 69_37n -1 known silent c.5103 p.A1701 0.323 pirsf_Notch pfam_EGF-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_dom,pfam_Notch_NODP_dom,pfam_Notch_NOD_dom,pfam_EGF_extracell,pfam_DUF3454_notch,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EGF-like,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_3,prints_Notch_dom - no_errors NOTCH3 HGNC ENSG00000074181 32 0 0.00 18 9 33.33 - - - PIK3CA 0 genome.wustl.edu 37 3 178952085 178952085 + Missense_Mutation SNP A A G TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 3 178952085 178952085 A G SNP PIK3CA ENST00000263967 human ensembl 69_37n +1 known missense c.3140 p.H1047R 1.000 superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom - no_errors PIK3CA HGNC ENSG00000121879 235 0 0.00 163 409 71.50 - - - PLEKHA5 0 genome.wustl.edu 37 12 19459905 19459905 + RNA SNP C C A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 12 19459905 19459905 C A SNP PLEKHA5 ENST00000510738 human ensembl 69_37n +1 known rna NULL NULL 0.803 - - - no_errors PLEKHA5 HGNC ENSG00000052126 240 0 0.00 246 62 20.13 - - - RAB3GAP1 0 genome.wustl.edu 37 2 135848702 135848702 + Splice_Site SNP T T C TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 2 135848702 135848702 T C SNP RAB3GAP1 ENST00000264158 human ensembl 69_37n +1 known splice_site c.283+2 e4+2 1.000 - - - no_errors RAB3GAP1 HGNC ENSG00000115839 181 0 0.00 101 84 45.41 - - - RYR3 0 genome.wustl.edu 37 15 33873763 33873763 + Missense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 15 33873763 33873763 G A SNP RYR3 ENST00000389232 human ensembl 69_37n +1 known missense c.1492 p.V498I 0.902 pfam_Ca-rel_channel pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR,superfamily_ConA-like_lec_gl,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif - no_errors RYR3 HGNC ENSG00000198838 223 0 0.00 187 28 13.02 - - - SH3KBP1 0 genome.wustl.edu 37 X 19568118 19568118 + Missense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 X 19568118 19568118 G A SNP SH3KBP1 ENST00000397821 human ensembl 69_37n -1 known missense c.1468 p.R490W 1.000 NULL pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain,prints_p67phox,prints_SH3_domain,prints_Spectrin_alpha_SH3 - no_errors SH3KBP1 HGNC ENSG00000147010 345 1 0.29 222 105 31.72 - - - SLC30A10 0 genome.wustl.edu 37 1 220089061 220089061 + Missense_Mutation SNP T T A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 1 220089061 220089061 T A SNP SLC30A10 ENST00000366926 human ensembl 69_37n -1 known missense c.1188 p.L396F 0.000 NULL pfam_Cation_efflux,tigrfam_Cation_efflux - no_errors SLC30A10 HGNC ENSG00000196660 132 0 0.00 158 107 40.38 - - - SUPT5H 0 genome.wustl.edu 37 19 39949691 39949691 + Missense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 19 39949691 39949691 G A SNP SUPT5H ENST00000359191 human ensembl 69_37n +1 known missense c.436 p.A146T 1.000 pfam_Spt5_N,pirsf_TF_Spt5 pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5 - no_errors SUPT5H HGNC ENSG00000196235 137 0 0.00 105 16 13.22 - - - TEX15 0 genome.wustl.edu 37 8 30705650 30705650 + Missense_Mutation SNP C C T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 8 30705650 30705650 C T SNP TEX15 ENST00000256246 human ensembl 69_37n -1 known missense c.884 p.S295N 0.000 NULL NULL - no_errors TEX15 HGNC ENSG00000133863 127 0 0.00 85 35 29.17 - - - TFAP2B 0 genome.wustl.edu 37 6 50811097 50811097 + Missense_Mutation SNP A A G TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 A A Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 6 50811097 50811097 A G SNP TFAP2B ENST00000263046 human ensembl 69_37n +1 known missense c.1402 p.R468G 1.000 NULL pfam_TF_AP2_C,prints_TF_AP2_beta,prints_TF_AP2_C - no_errors TFAP2B HGNC ENSG00000008196 45 0 0.00 35 18 33.96 - - - USP14 0 genome.wustl.edu 37 18 210024 210024 + Silent SNP T T C TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 T T Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 18 210024 210024 T C SNP USP14 ENST00000261601 human ensembl 69_37n +1 known silent c.1218 p.F406 1.000 pfam_Peptidase_C19,pfscan_Peptidase_C19 pfam_Peptidase_C19,smart_Ubiquitin,pfscan_Peptidase_C19,pfscan_Ubiquitin_supergroup - no_errors USP14 HGNC ENSG00000101557 545 0 0.00 343 170 33.14 - - - VLDLR 0 genome.wustl.edu 37 9 2643403 2643403 + Missense_Mutation SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 9 2643403 2643403 G A SNP VLDLR ENST00000382100 human ensembl 69_37n +1 known missense c.692 p.R231H 1.000 superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt - no_errors VLDLR HGNC ENSG00000147852 33 0 0.00 25 10 28.57 - - - YTHDF1 0 genome.wustl.edu 37 20 61835025 61835025 + Silent SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 20 61835025 61835025 G A SNP YTHDF1 ENST00000370339 human ensembl 69_37n -1 known silent c.267 p.Y89 0.258 NULL pfam_YTH_domain,pfscan_YTH_domain - no_errors YTHDF1 HGNC ENSG00000149658 260 0 0.00 171 162 48.65 - - - ZFP28 0 genome.wustl.edu 37 19 57061548 57061548 + Missense_Mutation SNP C C T TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 C C Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 19 57061548 57061548 C T SNP ZFP28 ENST00000301318 human ensembl 69_37n +1 known missense c.800 p.A267V 0.000 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZFP28 HGNC ENSG00000196867 156 0 0.00 236 60 20.27 - - - ZSWIM5 0 genome.wustl.edu 37 1 45501826 45501826 + Silent SNP G G A TCGA-C8-A12Y-01A-11D-A12B-09 TCGA-C8-A12Y-10A-01D-A12B-09 G G Unknown Untested Somatic Phase_IV WXS none 1 dbGAP Illumina GAIIx d5c0a1a0-3d38-497b-9f47-107f06659cb1 9fdfe86f-477c-410d-8258-c253254ffe13 1 45501826 45501826 G A SNP ZSWIM5 ENST00000359600 human ensembl 69_37n -1 known silent c.2040 p.Y680 0.309 NULL pfscan_Znf_SWIM - no_errors ZSWIM5 HGNC ENSG00000162415 122 0 0.00 95 56 36.84 - - -